Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut C1orf127 148345 broad.mit.edu 37 1 11008207 11008207 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:11008207G>A uc010oao.1 - 8 1543 c.1538C>T c.(1537-1539)GCG>GTG p.A513V C1orf127_uc001arr.1_Missense_Mutation_p.A495V|C1orf127_uc001ars.1_Missense_Mutation_p.A487V NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 513 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GGCATCCCTCGCTGGCAGGAT 0.647 NA 13 58 0 0 0.00245 0 0 INSRR 3645 broad.mit.edu 37 1 156816537 156816537 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:156816537G>A uc010pht.1 - 8 1838 c.1584C>T c.(1582-1584)AAC>AAT p.N528N NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 528 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTGTGGCGTTCTGGAATG 0.617 NA 6 41 0 0 0.001168 0 0 MR1 3140 broad.mit.edu 37 1 181019198 181019198 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:181019198G>A uc001goq.1 + 3 385 c.380G>A c.(379-381)AGC>AAC p.S127N MR1_uc001gop.2_Missense_Mutation_p.S127N|MR1_uc001gor.1_Intron|MR1_uc001gos.1_Missense_Mutation_p.S127N|MR1_uc010pns.1_Missense_Mutation_p.S127N NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 127 Extracellular (Potential).|Ligand-binding.|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 GAGGATGGAAGCACCACAGGA 0.522 Colon(174;1412 1962 45296 46549 47110) NA 3 86 0 0 0.004672 0 0 LIN9 286826 broad.mit.edu 37 1 226421197 226421197 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:226421197C>T uc001hqa.2 - 13 1631 c.1321G>A c.(1321-1323)GCA>ACA p.A441T LIN9_uc001hqb.2_Missense_Mutation_p.A406T|LIN9_uc001hqc.2_Missense_Mutation_p.A373T|LIN9_uc009xel.1_Missense_Mutation_p.A406T NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 425 cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGCTGATCTGCAGGCTGGAGC 0.483 Ovarian(197;1696 2974 11248 14117) NA 16 97 0 0 0.003163 0 0 ZNF488 118738 broad.mit.edu 37 10 48371096 48371096 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:48371096C>T uc001jex.2 + 2 726 c.564C>T c.(562-564)GCC>GCT p.A188A ZNF488_uc001jey.2_Silent_p.A81A NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGCAGATGCCCTGGGGGAGC 0.537 NA 8 58 0 0 0.004482 0 0 UNC5B 219699 broad.mit.edu 37 10 73051404 73051404 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:73051404G>T uc001jro.2 + 10 1955 c.1510G>T c.(1510-1512)GGG>TGG p.G504W UNC5B_uc001jrp.2_Missense_Mutation_p.G493W NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 504 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 TGACCTGCTGGGGGTCTTGCC 0.657 NA 28 85 5.61819e-17 7.59381e-17 0.005443 1 0 ECD 11319 broad.mit.edu 37 10 74899220 74899220 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:74899220A>G uc001jtn.2 - 11 1511 c.1268T>C c.(1267-1269)CTG>CCG p.L423P ECD_uc009xqx.2_Missense_Mutation_p.L456P|ECD_uc009xqy.2_Missense_Mutation_p.L380P|ECD_uc001jto.2_Missense_Mutation_p.L122P NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 423 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) CAGCTGGTCCAGCTGATCTGG 0.453 NA 15 56 0 0 0.00499 0 0 PI4K2A 55361 broad.mit.edu 37 10 99400513 99400513 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr10:99400513G>A uc001kog.1 + 1 71 c.14G>A c.(13-15)AGC>AAC p.S5N PI4K2A_uc010qoy.1_Intron NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 5 phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GACGAGACGAGCCCACTAGTG 0.736 NA 6 42 0 0 0.004482 0 0 MUC5B 727897 broad.mit.edu 37 11 1272788 1272788 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:1272788C>T uc009ycr.1 + 52 15770 c.15644C>T c.(15643-15645)ACG>ATG p.T5215M MUC5B_uc001ltb.2_Missense_Mutation_p.T4896M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4893 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTGCCTCCACGGTTCCCAGC 0.662 NA 4 27 0 0 0.000602 0 0 PDE3B 5140 broad.mit.edu 37 11 14666460 14666460 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:14666460G>A uc001mln.2 + 1 1192 c.839G>A c.(838-840)AGT>AAT p.S280N PDE3B_uc001mlm.2_Missense_Mutation_p.S280N|PDE3B_uc010rcr.1_Missense_Mutation_p.S280N|PSMA1_uc001mll.2_5'Flank NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 280 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 CGACTGTCCAGTGCCGCCGAA 0.587 NA 17 56 0 0 0.006122 0 0 KCNC1 3746 broad.mit.edu 37 11 17757663 17757663 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:17757663G>A uc001mnk.3 + 1 169 c.114G>A c.(112-114)GCG>GCA p.A38A KCNC1_uc009yhc.1_Silent_p.A38A NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 38 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 CCTGGCTGGCGGAGCCCGACG 0.682 NA 4 18 0 0 0.009096 0 0 INPPL1 3636 broad.mit.edu 37 11 71949338 71949338 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:71949338G>T uc001osf.2 + 28 3865 c.3718G>T c.(3718-3720)GGG>TGG p.G1240W INPPL1_uc001osg.2_Missense_Mutation_p.G998W NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1240 SAM. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 GGAGGAGGCTGGGGTGCAGGA 0.637 NA OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 46 2.27111e-07 2.82168e-07 0.013537 1 0 SPCS2 9789 broad.mit.edu 37 11 74676882 74676882 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:74676882C>T uc001ovu.2 + 3 312 c.273C>T c.(271-273)TCC>TCT p.S91S NM_014752 NP_055567 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog 91 Helical; (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 GTACAATCTCCTGTTTCTTTG 0.393 NA 9 52 0 0 0.004482 0 0 CCDC90B 60492 broad.mit.edu 37 11 82972966 82972966 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:82972966C>G uc001pae.2 - 9 1114 c.752G>C c.(751-753)AGA>ACA p.R251T CCDC90B_uc001pac.2_Missense_Mutation_p.R150T|CCDC90B_uc001pad.2_Missense_Mutation_p.R150T|CCDC90B_uc001paf.2_Missense_Mutation_p.R242T NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B precursor 251 Helical; (Potential). integral to membrane|mitochondrion|mitochondrion 0 Acute lymphoblastic leukemia(157;0.103) CTTCCAGAATCTATAAAATCC 0.388 NA 5 99 0 0 0.000602 0 0 FLI1 2313 broad.mit.edu 37 11 128638032 128638032 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr11:128638032A>G uc010sbu.1 + 3 591 c.250A>G c.(250-252)AGC>GGC p.S84G FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.S51G|FLI1_uc009zci.2_Missense_Mutation_p.S18G|FLI1_uc001qen.2_Missense_Mutation_p.S51G NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 84 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GGTGGACTGCAGCGTTAGCAA 0.572 NA T EWSR1 Ewing sarcoma 5 13 0 0 0.001984 0 0 CSRNP2 81566 broad.mit.edu 37 12 51457744 51457744 + Missense_Mutation SNP A A C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:51457744A>C uc001rxu.1 - 5 1715 c.1417T>G c.(1417-1419)TCA>GCA p.S473A NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 473 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CCCACCTCTGATTTACAGAGG 0.527 NA 23 73 0 0 0.014323 0 0 LRP1 4035 broad.mit.edu 37 12 57605790 57605790 + Nonsense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:57605790C>T uc001snd.2 + 87 13805 c.13339C>T c.(13339-13341)CGA>TGA p.R4447* NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4447 Cytoplasmic (Potential).|Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTATAAGCGGCGAGTCCAAGG 0.527 NA 8 84 0 0 0.00308 0 0 DNAH10 196385 broad.mit.edu 37 12 124403278 124403278 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr12:124403278G>A uc001uft.3 + 64 10959 c.10934G>A c.(10933-10935)CGG>CAG p.R3645Q NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3645 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACAGGCTGCGGGATGGCTAC 0.572 NA 7 21 0 0 0.00308 0 0 SACS 26278 broad.mit.edu 37 13 23909353 23909353 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:23909353C>T uc001uon.2 - 10 9251 c.8662G>A c.(8662-8664)GCA>ACA p.A2888T SACS_uc001uoo.2_Missense_Mutation_p.A2741T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2888 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAATCCAGTGCAAAGTGGCCA 0.448 NA 5 22 0 0 0.001168 0 0 CENPJ 55835 broad.mit.edu 37 13 25487104 25487104 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:25487104C>G uc001upt.3 - 2 313 c.60G>C c.(58-60)TGG>TGC p.W20C CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 20 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GATTGGTCATCCACTGGGTTA 0.438 NA 6 45 0 0 0.006214 0 0 ATP8A2 51761 broad.mit.edu 37 13 26273402 26273402 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:26273402C>A uc001uqk.2 + 25 2445 c.2303C>A c.(2302-2304)ACC>AAC p.T768N ATP8A2_uc010tdi.1_Missense_Mutation_p.T728N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.T318N NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 728 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GATGGCCACACCCTGAAGTAC 0.547 NA 12 53 2.27111e-07 2.82168e-07 0.013537 1 0 ATP7B 540 broad.mit.edu 37 13 52509127 52509127 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:52509127G>A uc001vfw.2 - 21 4320 c.4163C>T c.(4162-4164)GCG>GTG p.A1388V ATP7B_uc010adv.2_Missense_Mutation_p.A958V|ATP7B_uc001vfx.2_Missense_Mutation_p.A1181V|ATP7B_uc001vfy.2_Missense_Mutation_p.A1277V|ATP7B_uc010tgt.1_Missense_Mutation_p.A1323V|ATP7B_uc010tgu.1_Missense_Mutation_p.A1340V|ATP7B_uc010tgv.1_Missense_Mutation_p.A1310V|ATP7B_uc001vfv.2_Missense_Mutation_p.A660V|ATP7B_uc010tgs.1_Missense_Mutation_p.A599V NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1388 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GTGGCCATGCGCCTGTGCCTC 0.547 NA Wilson_disease 11 45 0 0 0.013537 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454780 84454780 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:84454780G>T uc001vlk.2 - 1 1749 c.863C>A c.(862-864)ACT>AAT p.T288N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 288 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTGAAAGGAGTTGGCAGGGG 0.542 NA 11 43 4.84862e-15 6.34446e-15 0.010729 1 0 ERCC5 2073 broad.mit.edu 37 13 103528149 103528149 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:103528149G>A uc001vpw.2 + 15 3900 c.3457G>A c.(3457-3459)GAC>AAC p.D1153N NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 1153 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGATAGTGATGACGATGGAGG 0.493 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 13 21 0 0 0.003163 0 0 OXA1L 5018 broad.mit.edu 37 14 23235884 23235884 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:23235884G>A uc001wgn.2 + 1 154 c.154G>A c.(154-156)GCA>ACA p.A52T OXA1L_uc010tnc.1_Missense_Mutation_p.A52T|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.A52T|OXA1L_uc001wgp.2_5'Flank|OXA1L_uc001wgq.2_5'Flank NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like Error:Variant_position_missing_in_Q15070_after_alignment aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CTGCGCAGGCGCAAAAGCAAG 0.582 NA 14 124 0 0 0.00245 0 0 MYH7 4625 broad.mit.edu 37 14 23902380 23902380 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:23902380T>A uc001wjx.2 - 4 364 c.258A>T c.(256-258)AAA>AAT p.K86N NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 86 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTCCTCGATTTTGTCGAACT 0.587 NA 23 99 0 0 0.013726 0 0 ADCY4 196883 broad.mit.edu 37 14 24798353 24798353 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr14:24798353G>A uc001wov.2 - 10 1444 c.1438C>T c.(1438-1440)CGT>TGT p.R480C ADCY4_uc001wow.2_Missense_Mutation_p.R480C|ADCY4_uc010toh.1_Missense_Mutation_p.R166C|ADCY4_uc001wox.2_Missense_Mutation_p.R480C|ADCY4_uc001woy.2_Missense_Mutation_p.R480C NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 480 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) TCCAGGTAACGGGTCATCAGC 0.617 NA 9 55 0 0 0.006214 0 0 OR4N4 283694 broad.mit.edu 37 15 22383265 22383265 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:22383265T>A uc001yuc.1 + 7 1774 c.793T>A c.(793-795)TTA>ATA p.L265I LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.L265I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTCAGGGCCTTACCAGCTGA 0.433 NA 21 255 0 0 0.00278 0 0 LINGO1 84894 broad.mit.edu 37 15 77907402 77907402 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:77907402C>T uc002bct.1 - 2 899 c.847G>A c.(847-849)GTC>ATC p.V283I LINGO1_uc002bcu.1_Missense_Mutation_p.V277I NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 283 Extracellular (Potential).|LRR 8. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 AGGTGGCGGACGGCCAGGTAG 0.587 NA 3 57 0 0 0.009096 0 0 WASH3P 374666 broad.mit.edu 37 15 102516424 102516424 + Silent SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:102516424G>T uc002cdi.2 + 11 2170 c.750G>T c.(748-750)CCG>CCT p.P250P WASH3P_uc002cdl.2_Silent_p.P250P|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Silent_p.P250P|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGCCGCCACCGCAGCAGCCAC 0.647 NA 7 69 0.000157383 0.000179242 0.00308 1 0 TMC5 79838 broad.mit.edu 37 16 19485537 19485537 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr16:19485537A>T uc002dgc.3 + 12 2778 c.2029A>T c.(2029-2031)ATG>TTG p.M677L TMC5_uc010vaq.1_Missense_Mutation_p.M625L|TMC5_uc002dgb.3_Missense_Mutation_p.M677L|TMC5_uc010var.1_Missense_Mutation_p.M677L|TMC5_uc002dgd.1_Missense_Mutation_p.M431L|TMC5_uc002dge.3_Missense_Mutation_p.M431L|TMC5_uc002dgf.3_Missense_Mutation_p.M360L|TMC5_uc002dgg.3_Missense_Mutation_p.M318L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 677 Cytoplasmic (Potential). integral to membrane skin(1) 1 CATCTACTCCATGTTCAGGCT 0.552 NA 5 158 0 0 0.000602 0 0 SCARF1 8578 broad.mit.edu 37 17 1538814 1538814 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:1538814C>T uc002fsz.1 - 11 1781 c.1731G>A c.(1729-1731)CCG>CCA p.P577P SCARF1_uc002fsy.1_Missense_Mutation_p.R565H|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.P491P NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 577 Pro/Ser-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity p.P577S(1) skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGGAGGTGCGCGGGATGGCGA 0.672 NA 18 74 0 0 0.007413 0 0 DHX8 1659 broad.mit.edu 37 17 41569551 41569551 + Missense_Mutation SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:41569551A>T uc002idu.1 + 5 467 c.394A>T c.(394-396)ACC>TCC p.T132S DHX8_uc010wif.1_Missense_Mutation_p.T41S|DHX8_uc010wig.1_Missense_Mutation_p.T132S NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 132 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACCTCTGCAGACCATGTTGGA 0.443 NSCLC(56;1548 1661 49258 49987) NA 8 26 0 0 0.006214 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476905 42476905 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:42476905C>A uc002igw.1 - 8 2604 c.2540G>T c.(2539-2541)AGT>ATT p.S847I GPATCH8_uc002igv.1_Missense_Mutation_p.S769I|GPATCH8_uc010wiz.1_Missense_Mutation_p.S769I NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 847 Ser-rich. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGAATGCTCACTGCCTGAATC 0.552 NA 31 65 5.45727e-16 7.29613e-16 0.008361 1 0 ANKFN1 162282 broad.mit.edu 37 17 54428148 54428148 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr17:54428148G>A uc002iun.1 + 4 254 c.219G>A c.(217-219)ACG>ACA p.T73T NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 73 large_intestine(1)|ovary(1) 2 TGAAAATGACGCAACAAATGC 0.388 NA 10 44 0 0 0.006214 0 0 CLUL1 27098 broad.mit.edu 37 18 641426 641426 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:641426G>A uc002kkp.2 + 7 1239 c.1094G>A c.(1093-1095)CGG>CAG p.R365Q CLUL1_uc010wys.1_Missense_Mutation_p.R417Q|CLUL1_uc002kkq.2_Missense_Mutation_p.R365Q NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 365 cell death extracellular region ovary(2) 2 CAGATGACCCGGAAGCACTTG 0.522 NA 15 110 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 6956680 6956680 + Silent SNP G G A rs145856205 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:6956680G>A uc002knm.2 - 56 8143 c.8049C>T c.(8047-8049)CCC>CCT p.P2683P LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.P136P|LAMA1_uc010wzj.1_Silent_p.P2159P NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2683 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCTGCATCGGGAGCCAGCT 0.542 NA 6 48 0 0 0.001168 0 0 ZNF521 25925 broad.mit.edu 37 18 22807567 22807567 + Silent SNP G G A rs145068263 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:22807567G>A uc002kvk.2 - 4 562 c.315C>T c.(313-315)TGC>TGT p.C105C ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C105C|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 105 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTCCAAAATCGCAACCTTCTC 0.517 NA T PAX5 ALL 4 59 0 0 0.009096 0 0 ELP2 55250 broad.mit.edu 37 18 33734899 33734899 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr18:33734899C>T uc002kzk.1 + 12 1222 c.1212C>T c.(1210-1212)ATC>ATT p.I404I ELP2_uc010xcg.1_Silent_p.I469I|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.I378I|ELP2_uc010xch.1_Silent_p.I399I|ELP2_uc002kzn.1_Silent_p.I334I|ELP2_uc002kzo.1_Silent_p.I334I NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 404 WD 8. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 AATTTATTATCACTGTTGGTA 0.368 NA 7 42 0 0 0.006214 0 0 PRAM1 84106 broad.mit.edu 37 19 8564620 8564620 + Silent SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:8564620G>C uc002mkd.2 - 2 92 c.72C>G c.(70-72)GCC>GCG p.A24A PRAM1_uc002mkc.2_Silent_p.A24A NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 24 lipid binding|protein binding 0 CCGGCTGAGAGGCCTGGAACT 0.562 NA 5 13 0 0 0.000602 0 0 ZNF91 7644 broad.mit.edu 37 19 23545333 23545333 + Nonsense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:23545333G>A uc002nre.2 - 4 561 c.448C>T c.(448-450)CAG>TAG p.Q150* ZNF91_uc010xrj.1_Nonsense_Mutation_p.Q118* NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 150 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACTTTGCTCTGGGCAGTTGTG 0.323 NA 13 37 0 0 0.00245 0 0 ZFP82 284406 broad.mit.edu 37 19 36884215 36884215 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:36884215A>G uc002ody.1 - 5 1262 c.1027T>C c.(1027-1029)TGC>CGC p.C343R NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 343 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GCCTTCCCGCATTCCTTACAT 0.423 NA 9 90 0 0 0.006214 0 0 RYR1 6261 broad.mit.edu 37 19 38979989 38979989 + Missense_Mutation SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:38979989A>G uc002oit.2 + 35 5850 c.5720A>G c.(5719-5721)GAA>GGA p.E1907G RYR1_uc002oiu.2_Missense_Mutation_p.E1907G NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1907 Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) gaagatgaggaaaaagaggaa 0.224 NA 13 33 0 0 0.001855 0 0 ZNF285 26974 broad.mit.edu 37 19 44891618 44891618 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:44891618G>A uc002ozd.3 - 4 876 c.789C>T c.(787-789)GAC>GAT p.D263D ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.D270D NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 263 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 TTCCATACTGGTCACATTTAT 0.433 NA 35 81 0 0 0.003271 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388248 46388248 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:46388248G>A uc002pds.1 - 1 1129 c.785C>T c.(784-786)ACT>ATT p.T262I NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) AGGACGGGCAGTAGCATCGAA 0.627 NA 3 77 0 0 0.004672 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994907 51994907 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:51994907G>A uc002pwx.1 - 8 1832 c.1776C>T c.(1774-1776)AAC>AAT p.N592N SIGLEC12_uc002pww.1_Silent_p.N474N|SIGLEC12_uc010eoy.1_Silent_p.N319N NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 592 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACTTGGGGATGTTGATCTCGG 0.532 NA 32 115 0 0 0.004878 0 0 ZNF613 79898 broad.mit.edu 37 19 52447726 52447726 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:52447726C>A uc002pxz.1 + 6 1013 c.590C>A c.(589-591)ACT>AAT p.T197N ZNF613_uc002pya.1_Missense_Mutation_p.T161N NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) CATCAGCGAACTCAAAACATA 0.408 NA 52 193 3.4597e-24 4.72826e-24 0.01441 1 0 SRD5A2 6716 broad.mit.edu 37 2 31805965 31805965 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:31805965T>A uc002rnw.1 - 1 76 c.5A>T c.(4-6)CAG>CTG p.Q2L NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 2 androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GCACTGAACCTGCATCGCGCC 0.697 NA 6 35 0 0 0.001168 0 0 DHX57 90957 broad.mit.edu 37 2 39085937 39085937 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:39085937C>A uc002rrf.2 - 6 1552 c.1453G>T c.(1453-1455)GGT>TGT p.G485C DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.G485C NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 485 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) GGTGCAGGACCGTCATCCTCA 0.378 Melanoma(191;1090 2095 4375 23729 47341) NA 12 31 2.27111e-07 2.82168e-07 0.013537 1 0 GPR45 11250 broad.mit.edu 37 2 105858611 105858611 + Missense_Mutation SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:105858611G>A uc002tco.1 + 1 412 c.296G>A c.(295-297)CGC>CAC p.R99H NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 99 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 ATCACCGTGCGCTGGCACTTT 0.632 NA 33 140 0 0 0.004289 0 0 LRP1B 53353 broad.mit.edu 37 2 141291668 141291668 + Missense_Mutation SNP G G T rs151047433 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:141291668G>T uc002tvj.1 - 47 8656 c.7684C>A c.(7684-7686)CGC>AGC p.R2562S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2562 Extracellular (Potential).|LDL-receptor class A 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R2562C(1) lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCAGCGGCGATTATAGCAT 0.363 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 31 5.9392e-07 7.23289e-07 0.001168 1 0 LRP2 4036 broad.mit.edu 37 2 170101363 170101363 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr2:170101363G>A uc002ues.2 - 22 3483 c.3270C>T c.(3268-3270)AAC>AAT p.N1090N LRP2_uc010zdf.1_Silent_p.N953N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1090 LDL-receptor class A 9.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCACACAGTCGTTGCGTTTGT 0.512 NA 31 134 0 0 0.013726 0 0 ZMYND8 23613 broad.mit.edu 37 20 45875019 45875019 + Missense_Mutation SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr20:45875019G>C uc002xta.1 - 14 2211 c.1957C>G c.(1957-1959)CCA>GCA p.P653A ZMYND8_uc010ghq.1_Missense_Mutation_p.P330A|ZMYND8_uc010ghr.1_Missense_Mutation_p.P628A|ZMYND8_uc002xst.1_Missense_Mutation_p.P581A|ZMYND8_uc002xsu.1_Missense_Mutation_p.P653A|ZMYND8_uc002xsv.1_Missense_Mutation_p.P581A|ZMYND8_uc002xsw.1_Missense_Mutation_p.P405A|ZMYND8_uc002xsx.1_Missense_Mutation_p.P405A|ZMYND8_uc002xsy.1_Missense_Mutation_p.P628A|ZMYND8_uc002xsz.1_Missense_Mutation_p.P590A|ZMYND8_uc010zxy.1_Missense_Mutation_p.P680A|ZMYND8_uc002xtb.1_Missense_Mutation_p.P673A|ZMYND8_uc002xss.2_Missense_Mutation_p.P653A|ZMYND8_uc010zxz.1_Missense_Mutation_p.P648A|ZMYND8_uc002xtc.1_Missense_Mutation_p.P673A|ZMYND8_uc002xtd.1_Missense_Mutation_p.P648A|ZMYND8_uc002xte.1_Missense_Mutation_p.P653A|ZMYND8_uc010zya.1_Missense_Mutation_p.P653A|ZMYND8_uc002xtf.1_Missense_Mutation_p.P673A|ZMYND8_uc002xtg.2_Missense_Mutation_p.P647A|ZMYND8_uc010ghs.1_Missense_Mutation_p.P647A NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 653 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) TCGCTGGCTGGTGACGTGCTT 0.507 NA 24 83 0 0 0.004656 0 0 SCN11A 11280 broad.mit.edu 37 3 38988324 38988324 + Silent SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:38988324A>G uc011ays.1 - 2 541 c.342T>C c.(340-342)CCT>CCC p.P114P NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 114 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGAATTGAAAGGCCCAAAAA 0.383 NA 4 65 0 0 0.009096 0 0 ZNF619 285267 broad.mit.edu 37 3 40528959 40528959 + Nonsense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:40528959G>T uc011azb.1 + 6 1356 c.1078G>T c.(1078-1080)GAA>TAA p.E360* ZNF619_uc010hhz.2_Nonsense_Mutation_p.E311*|ZNF619_uc003ckj.2_Nonsense_Mutation_p.E304*|ZNF619_uc011azc.1_Nonsense_Mutation_p.E320*|ZNF619_uc011azd.1_Nonsense_Mutation_p.E276*|ZNF619_uc011aza.1_Nonsense_Mutation_p.E262* NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 360 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TAAATGTAAGGAATGTGGGAA 0.423 NA 16 33 5.01169e-05 5.87084e-05 0.00499 1 0 CXCR6 10663 broad.mit.edu 37 3 45988860 45988860 + Missense_Mutation SNP G G A rs141955108 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:45988860G>A uc003cpc.1 + 2 968 c.887G>A c.(886-888)CGA>CAA p.R296Q FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.R296Q NM_006564 NP_006555 O00574 CXCR6_HUMAN G protein-coupled receptor TYMSTR 296 Cytoplasmic (Potential). viral genome replication integral to plasma membrane coreceptor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTGAAGTTTCGAAAGAACTTC 0.473 Esophageal Squamous(63;1005 1117 15521 45762 47089) NA 5 39 0 0 0.001168 0 0 STAB1 23166 broad.mit.edu 37 3 52556586 52556586 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:52556586T>A uc003dej.2 + 61 6700 c.6626T>A c.(6625-6627)GTT>GAT p.V2209D STAB1_uc003dek.1_Missense_Mutation_p.V224D|STAB1_uc003del.2_Missense_Mutation_p.V96D NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2209 Extracellular (Potential).|Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGGCTGGCGTTTTCCACCTC 0.612 NA 3 93 0 0 0.004672 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828895 125828895 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:125828895C>T uc003eim.1 - 20 2429 c.2239G>A c.(2239-2241)GGG>AGG p.G747R ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G646R|ALDH1L1_uc003ein.1_Missense_Mutation_p.G282R NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 747 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCTGCGGCCCGTGGTCGGTG 0.607 NA 25 45 0 0 0.00632 0 0 LRCH3 84859 broad.mit.edu 37 3 197518157 197518157 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:197518157C>T uc011bul.1 + 1 13 c.8C>T c.(7-9)GCC>GTC p.A3V LRCH3_uc003fyj.1_Missense_Mutation_p.A3V|LRCH3_uc011bum.1_Missense_Mutation_p.A3V|LRCH3_uc011bun.1_Missense_Mutation_p.A3V NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 3 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GAAATGGCGGCCGCGGGCTTG 0.716 NA 6 9 0 0 0.004482 0 0 KDR 3791 broad.mit.edu 37 4 55981108 55981109 + Missense_Mutation DNP CA CA AT TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:55981108_55981109CA>AT uc003has.2 - 5 892_893 c.590_591TG>AT c.(589-591)ATG>AAT p.M197N KDR_uc003hat.1_Missense_Mutation_p.M197N|KDR_uc011bzx.1_Missense_Mutation_p.M197N NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 197 Ig-like C2-type 2.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACAGAAGACCATGCCAGCATA 0.381 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 3 27 0 0 0.004672 0 0 FAT4 79633 broad.mit.edu 37 4 126372162 126372162 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:126372162G>T uc003ifj.3 + 9 9991 c.9991G>T c.(9991-9993)GGG>TGG p.G3331W FAT4_uc011cgp.1_Missense_Mutation_p.G1629W|FAT4_uc003ifi.1_Missense_Mutation_p.G809W NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3331 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGGCACTGATGGGGAGGTACA 0.383 NA 8 57 3.09899e-07 3.81175e-07 0.004482 1 0 GLRB 2743 broad.mit.edu 37 4 158060005 158060005 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:158060005G>T uc003ipj.2 + 7 857 c.655G>T c.(655-657)GAT>TAT p.D219Y NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 219 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GCAGTCAGGAGATCCTGTGCA 0.274 NA 8 37 1.58986e-06 1.91719e-06 0.008291 1 0 CPE 1363 broad.mit.edu 37 4 166408697 166408698 + Missense_Mutation DNP AA AA TT TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr4:166408697_166408698AA>TT uc003irg.3 + 6 1358_1359 c.1081_1082AA>TT c.(1081-1083)AAC>TTC p.N361F NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 361 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGGGAGGATAACAAAAACTCC 0.441 NA 3 32 0 0 0.004672 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627195 140627195 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:140627195C>T uc003lje.2 + 1 2049 c.2049C>T c.(2047-2049)GCC>GCT p.A683A NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 683 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCCCAGGCCGACTCGCTTA 0.672 NA 46 132 0 0 0.013114 0 0 C5orf54 63920 broad.mit.edu 37 5 159822295 159822295 + Missense_Mutation SNP T T A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:159822295T>A uc003lye.1 - 2 667 c.203A>T c.(202-204)CAT>CTT p.H68L C5orf54_uc003lyf.1_Missense_Mutation_p.H68L NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 68 pancreas(1) 1 tgctggcatatgcttcaggct 0 NA 16 99 0 0 0.00499 0 0 THOC3 84321 broad.mit.edu 37 5 175387036 175387036 + Missense_Mutation SNP C C A rs139761351 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:175387036C>A uc003mdg.3 - 6 1326 c.992G>T c.(991-993)GGC>GTC p.G331V NM_032361 NP_115737 Q96J01 THOC3_HUMAN THO complex 3 331 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing transcription export complex RNA binding 0 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) GTCATATTTGCCGTCTTTGTC 0.557 NA 4 31 0.000219431 0.000247615 0.00245 1 0 ZNF354B 117608 broad.mit.edu 37 5 178310482 178310482 + Silent SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr5:178310482A>G uc003mjl.2 + 5 1255 c.1029A>G c.(1027-1029)GGA>GGG p.G343G ZNF354B_uc003mjm.2_Silent_p.G343G NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTTTCTGGAAGTCAGAAAA 0.398 NA 11 38 0 0 0.010729 0 0 ATXN1 6310 broad.mit.edu 37 6 16328069 16328069 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:16328069G>T uc003nbt.2 - 8 1444 c.473C>A c.(472-474)GCA>GAA p.A158E ATXN1_uc010jpi.2_Missense_Mutation_p.A158E|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 158 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGAGGCCACTGCACTGGTGAC 0.627 NA 34 115 1.90571e-15 2.52045e-15 0.004289 1 0 HIST1H2AK 8330 broad.mit.edu 37 6 27806013 27806013 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:27806013G>A uc003njs.2 - 1 105 c.105C>T c.(103-105)CTC>CTT p.L35L HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 35 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 TGCCCTTGCGGAGCAGTCGGT 0.662 NA 6 60 0 0 0.001168 0 0 SCAND3 114821 broad.mit.edu 37 6 28542473 28542473 + Missense_Mutation SNP T T G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:28542473T>G uc003nlo.2 - 3 2627 c.2009A>C c.(2008-2010)AAA>ACA p.K670T NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 670 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTTTAGCATTTTGGAAGGTTT 0.423 NA 17 121 0 0 0.006122 0 0 ZBTB9 221504 broad.mit.edu 37 6 33424182 33424182 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:33424182A>T uc003oeq.2 + 2 1573 c.1305A>T c.(1303-1305)GGA>GGT p.G435G NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCCATGCTGGAGCCCTGCATG 0.607 NA 14 100 0 0 0.004007 0 0 VEGFA 7422 broad.mit.edu 37 6 43745332 43745332 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:43745332G>T uc003owc.2 + 3 1276 c.245G>T c.(244-246)CGA>CTA p.R82L VEGFA_uc003owb.2_Missense_Mutation_p.R82L|VEGFA_uc003owd.2_Missense_Mutation_p.R262L|VEGFA_uc003owf.2_Missense_Mutation_p.R262L|VEGFA_uc003owe.2_Missense_Mutation_p.R262L|VEGFA_uc003owg.2_Missense_Mutation_p.R262L|VEGFA_uc003owh.2_Missense_Mutation_p.R262L|VEGFA_uc003owi.2_Missense_Mutation_p.R262L|VEGFA_uc003owj.2_Missense_Mutation_p.R262L|VEGFA_uc010jyx.2_Missense_Mutation_p.R82L|VEGFA_uc003owk.2_5'Flank NM_001025370 NP_001020541 P15692 VEGFA_HUMAN vascular endothelial growth factor A isoform f 82 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding ovary(1)|breast(1) 2 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) CCCCTGATGCGATGCGGGGGC 0.587 NA 18 59 1.33834e-09 1.71474e-09 0.007413 1 0 OPN5 221391 broad.mit.edu 37 6 47749807 47749807 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:47749807C>T uc003ozc.2 + 1 10 c.5C>T c.(4-6)GCG>GTG p.A2V NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 2 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 AACAGAATGGCGTTAAATCAC 0.498 Melanoma(28;740 973 10870 42660 45347) NA 11 71 0 0 0.001855 0 0 EYS 346007 broad.mit.edu 37 6 66205100 66205100 + Silent SNP A A T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:66205100A>T uc011dxu.1 - 4 742 c.204T>A c.(202-204)ACT>ACA p.T68T EYS_uc003peq.2_Silent_p.T68T|EYS_uc003per.1_Silent_p.T68T|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 68 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GATTGCCTGAAGTATCTATTT 0.368 NA 8 80 0 0 0.004482 0 0 SYNE1 23345 broad.mit.edu 37 6 152623099 152623099 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:152623099G>A uc010kiw.2 - 92 18048 c.17446C>T c.(17446-17448)CTG>TTG p.L5816L SYNE1_uc010kiv.2_Silent_p.L340L|SYNE1_uc003qos.3_Silent_p.L340L|SYNE1_uc003qot.3_Silent_p.L5745L|SYNE1_uc003qou.3_Silent_p.L5816L|SYNE1_uc010kiy.1_Silent_p.L38L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5816 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTCACCGTCAGCAGCATGGTG 0.597 NA HNSCC(10;0.0054) 15 28 0 0 0.00499 0 0 GNA12 2768 broad.mit.edu 37 7 2834581 2834581 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:2834581C>T uc003smu.2 - 2 670 c.506G>A c.(505-507)CGG>CAG p.R169Q GNA12_uc011jwb.1_Missense_Mutation_p.R169Q|GNA12_uc003smt.2_Missense_Mutation_p.R110Q NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 169 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) CTCGCTTCTCCGGCTGAAAGC 0.552 NA 4 99 0 0 0.000602 0 0 CAMK2B 816 broad.mit.edu 37 7 44268445 44268445 + Missense_Mutation SNP C C G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:44268445C>G uc003tkq.2 - 19 1628 c.1418G>C c.(1417-1419)GGG>GCG p.G473A CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Missense_Mutation_p.G106A NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 473 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 GGGCGGGGGCCCCGCTGAGAG 0.677 NA 5 0 0 0 0.000602 0 0 STYXL1 51657 broad.mit.edu 37 7 75634594 75634594 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:75634594G>A uc003uej.3 - 6 755 c.582C>T c.(580-582)TCC>TCT p.S194S STYXL1_uc003uef.2_5'UTR|STYXL1_uc011kgf.1_Silent_p.S56S|STYXL1_uc011kgg.1_Silent_p.S46S|STYXL1_uc003ueh.2_Silent_p.S56S|STYXL1_uc003uek.3_Silent_p.S98S|STYXL1_uc003uel.2_Silent_p.S194S|STYXL1_uc003uem.2_Silent_p.S194S|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.S194S|STYXL1_uc003uen.1_Silent_p.S194S NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 194 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 CTGTATCCATGGAGACATTGA 0.313 NA 6 23 0 0 0.00308 0 0 ARPC1B 10095 broad.mit.edu 37 7 98984357 98984357 + Silent SNP C C T rs144704984 TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:98984357C>T uc003upz.2 + 3 203 c.114C>T c.(112-114)AGC>AGT p.S38S ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.S38S|ARPC1B_uc003uqb.2_Silent_p.S38S|ARPC1B_uc003uqc.2_Silent_p.S38S NM_005720 NP_005711 O15143 ARC1B_HUMAN actin related protein 2/3 complex subunit 1B 38 WD 1. cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ATGAAAAGAGCGGTGCCAAAT 0.572 NA 19 146 0 0 0.014323 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558434 113558434 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr7:113558434C>A uc010ljy.1 - 1 649 c.618G>T c.(616-618)GAG>GAT p.E206D NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 206 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GTATACAAAACTCAACTTTAC 0.343 NA 4 19 0.00024832 0.000277667 0.009096 1 0 FAM49B 51571 broad.mit.edu 37 8 130883703 130883703 + Missense_Mutation SNP T T C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr8:130883703T>C uc003yss.2 - 7 662 c.113A>G c.(112-114)CAG>CGG p.Q38R FAM49B_uc003yst.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysu.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysv.2_5'UTR|FAM49B_uc003ysw.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysx.2_Missense_Mutation_p.Q38R|FAM49B_uc003ysy.1_Missense_Mutation_p.Q38R NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 38 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TACATTCACCTGATTATAAAT 0.388 NA 4 45 0 0 0.000602 0 0 FREM1 158326 broad.mit.edu 37 9 14848737 14848737 + Missense_Mutation SNP C C A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:14848737C>A uc003zlm.2 - 7 1777 c.1187G>T c.(1186-1188)AGG>ATG p.R396M FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 396 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AGGTGCACTCCTTTCAAAGAA 0.438 NA 6 29 8.12818e-05 9.34361e-05 0.001984 1 0 TLE4 7091 broad.mit.edu 37 9 82323092 82323092 + Silent SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:82323092G>T uc004ald.2 + 13 1920 c.1071G>T c.(1069-1071)GCG>GCT p.A357A TLE4_uc004alc.2_Silent_p.A332A|TLE4_uc010mpr.2_Silent_p.A211A|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.A300A|TLE4_uc010mps.2_Silent_p.A256A|TLE4_uc004alf.2_Silent_p.A271A NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 GAACTGATGCGCCCACCCCAG 0.438 NA 12 75 5.50884e-06 6.57851e-06 0.013537 1 0 PBX3 5090 broad.mit.edu 37 9 128724493 128724493 + Silent SNP G G A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:128724493G>A uc004bqb.2 + 7 1238 c.1122G>A c.(1120-1122)CAG>CAA p.Q374Q PBX3_uc004bqc.2_Silent_p.Q193Q|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Silent_p.Q299Q|PBX3_uc011lzx.1_Intron|PBX3_uc004bqe.2_Silent_p.Q282Q NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 374 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 TGCAATCACAGGTAGGAGAAA 0.507 NA 4 22 0 0 0.009096 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A A G TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 NA 4 52 0 0 0.000602 0 0 MSL3 10943 broad.mit.edu 37 X 11793130 11793130 + Missense_Mutation SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:11793130C>T uc004cuw.2 + 13 1603 c.1498C>T c.(1498-1500)CCA>TCA p.P500S MSL3_uc004cux.2_Missense_Mutation_p.P441S|MSL3_uc011mig.1_Missense_Mutation_p.P351S|MSL3_uc011mih.1_Missense_Mutation_p.P488S|MSL3_uc004cuy.2_Missense_Mutation_p.P334S NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 500 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGACTTCTTCCCAGAGTCGGC 0.423 NA 3 38 0 0 0.009096 0 0 USP9X 8239 broad.mit.edu 37 X 41077680 41077680 + Missense_Mutation SNP G G T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:41077680G>T uc004dfb.2 + 37 6898 c.6265G>T c.(6265-6267)GCT>TCT p.A2089S USP9X_uc004dfc.2_Missense_Mutation_p.A2089S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2089 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTTTTGGTTTGCTCATAACGT 0.373 Ovarian(172;1807 2695 35459 49286) NA 11 32 6.42651e-13 8.32064e-13 0.010729 1 0 SPRY3 10251 broad.mit.edu 37 X 155003947 155003947 + Silent SNP G G C TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chrX:155003947G>C uc004fnq.1 + 2 868 c.414G>C c.(412-414)GGG>GGC p.G138G SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 138 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATCTGCAGGGCACCCTAGTG 0.607 NA 17 67 0 0 0.004007 0 0 ODF2L 57489 broad.mit.edu 37 1 86841994 86841995 + Frame_Shift_Ins INS - - T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr1:86841994_86841995insT uc001dll.1 - 8 1071_1072 c.731_732insA c.(730-732)AAGfs p.K244fs ODF2L_uc001dlm.1_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.K113fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.K244fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.K244fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.K74fs|ODF2L_uc009wcr.1_Frame_Shift_Ins_p.K113fs NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 244 centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) CTTTAGATGCCTTTTTTAAAGC 0.347 NA 2 4 --- --- --- --- NA NA NA NA NA RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - - GG TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 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 7 160 --- --- --- --- NA NA NA NA NA GPR180 160897 broad.mit.edu 37 13 95254184 95254184 + Frame_Shift_Del DEL G G - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr13:95254184delG uc001vly.2 + 1 81 c.3delG c.(1-3)ATGfs p.M1fs GPR180_uc001vlz.2_Translation_Start_Site|GPR180_uc010afi.2_Translation_Start_Site NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 1 integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AGACGGGCATGGGGGGGCTGC 0.771 NA 3 3 --- --- --- --- NA NA NA NA NA MGA 23269 broad.mit.edu 37 15 42003214 42003220 + Frame_Shift_Del DEL CATTTTA CATTTTA - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 CATTTTA CATTTTA - - CATTTTA CATTTTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr15:42003214_42003220delCATTTTA uc001zog.1 + 8 2842_2848 c.2751_2757delCATTTTA c.(2749-2757)TCCATTTTAfs p.S917fs MGA_uc010ucy.1_Frame_Shift_Del_p.S917fs|MGA_uc010ucz.1_Frame_Shift_Del_p.S917fs NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 917_919 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTTATAAATCCATTTTACCATACCCTG 0.396 NA 9 91 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1207090 1207091 + Frame_Shift_Ins INS - - A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:1207090_1207091insA uc002lrl.1 + 1 1293_1294 c.178_179insA c.(178-180)TACfs p.Y60fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 60 ATP (By similarity).|Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)|p.G56fs*4(1)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGGCTCTTACGGCAAGGTG 0.629 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 12 34 --- --- --- --- NA NA NA NA NA MARK4 57787 broad.mit.edu 37 19 45797646 45797647 + Frame_Shift_Ins INS - - A TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr19:45797646_45797647insA uc002pbb.1 + 14 1539_1540 c.1534_1535insA c.(1534-1536)TACfs p.Y512fs MARK4_uc002pba.1_Frame_Shift_Ins_p.Y512fs Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 512 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGAAACACCTACGTTTGCACA 0.599 NA 12 79 --- --- --- --- NA NA NA NA NA CCDC13 152206 broad.mit.edu 37 3 42774410 42774410 + Frame_Shift_Del DEL A A - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:42774410delA uc003cly.3 - 12 1648 c.1564delT c.(1564-1566)TCCfs p.S522fs NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 522 ovary(1) 1 CTGGGCAGGGAAGGCCTCGTG 0.572 NA 2 4 --- --- --- --- NA NA NA NA NA RAD54L2 23132 broad.mit.edu 37 3 51624506 51624508 + In_Frame_Del DEL GAG GAG - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 GAG GAG - - GAG GAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr3:51624506_51624508delGAG uc011bdt.1 + 2 195_197 c.70_72delGAG c.(70-72)GAGdel p.E30del RAD54L2_uc003dbh.2_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 30 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) ggatgcggaagaggaggaggagg 0.429 NA 2 4 --- --- --- --- NA NA NA NA NA MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8dbe8f2d-38c0-4d35-bb53-d43e759784ee da990b8c-9ccd-4a64-811b-5a6a6177ac99 g.chr6:29455156_29455157delAC uc011dlq.1 - 1 523_524 c.523_524delGT c.(523-525)GTCfs p.V175fs NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 Cytoplasmic (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 GGGGAAGAGGACACACACACAC 0.495 NSCLC(153;755 1987 3859 11251 32945) NA 7 122 --- --- --- --- NA NA NA NA NA