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 SLC35E2B 728661 broad.mit.edu 37 1 1599899 1599899 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:1599899T>C uc001ahf.3 - 9 1768 c.847A>G c.(847-849)ATC>GTC p.I283V CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc009vkl.1_Missense_Mutation_p.D200G|SLC35E2B_uc001ahe.3_Missense_Mutation_p.D65G|SLC35E2B_uc001ahg.3_Missense_Mutation_p.I283V|SLC35E2B_uc001ahh.3_Missense_Mutation_p.I283V NM_001110781 NP_001104251 P0CK96 S352B_HUMAN similar to solute carrier family 35, member E2 283 Helical; (Potential). integral to membrane 0 CTCCTCCCGATCACTGGGACG 0.542 NA 14 69 0 0 0.008871 0 0 PRDM2 7799 broad.mit.edu 37 1 14142945 14142945 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:14142945G>A uc001avi.2 + 9 5916 c.5060G>A c.(5059-5061)CGA>CAA p.R1687Q PRDM2_uc001avg.2_Missense_Mutation_p.D179N|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1687 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTGGCGTCCCGATGCTCTCCA 0.587 NA 19 38 0 0 0.001882 0 0 MST1P2 11209 broad.mit.edu 37 1 16975289 16975289 + Splice_Site SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:16975289T>A uc010och.1 + 8 c.1656_splice c.e8+2 MST1P2_uc001azl.3_Splice_Site|MST1P2_uc009vox.2_Splice_Site|MST1P2_uc001azm.3_RNA NR_027504 Homo sapiens cDNA FLJ43241 fis, clone HEART1000010, weakly similar to Hepatocyte growth factor-like protein precursor. 0 CCCCCCCAGGTTAGGAGTTGG 0.577 NA 14 74 0 0 0.004007 0 0 UBR4 23352 broad.mit.edu 37 1 19448475 19448475 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:19448475G>A uc001bbi.2 - 67 9852 c.9848C>T c.(9847-9849)GCC>GTC p.A3283V UBR4_uc001bbk.1_Missense_Mutation_p.A930V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3283 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCGCTGGGCGGCAATCTCTGC 0.443 NA 3 30 0 0 0.004672 0 0 INADL 10207 broad.mit.edu 37 1 62349930 62349930 + Missense_Mutation SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:62349930A>G uc001dab.2 + 22 3095 c.2981A>G c.(2980-2982)CAA>CGA p.Q994R INADL_uc009waf.1_Missense_Mutation_p.Q994R|INADL_uc001daa.2_Missense_Mutation_p.Q994R|INADL_uc001dad.3_Missense_Mutation_p.Q691R|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 994 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AATGATGTCCAAGGTCCTAGC 0.398 NA 56 130 0 0 0.00361 0 0 DBT 1629 broad.mit.edu 37 1 100676288 100676288 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:100676288C>A uc001dta.2 - 8 1012 c.979G>T c.(979-981)GCT>TCT p.A327S DBT_uc010oug.1_Missense_Mutation_p.A146S NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 327 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding p.A327T(1) pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCACAGAAGCGTTAAGGATA 0.338 NA 20 75 1.50039e-11 1.94098e-11 0.001882 1 0 KIAA1324 57535 broad.mit.edu 37 1 109707159 109707159 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:109707159G>T uc001dwq.2 + 4 449 c.313G>T c.(313-315)GAC>TAC p.D105Y KIAA1324_uc009wex.1_Missense_Mutation_p.D105Y|KIAA1324_uc009wey.2_Missense_Mutation_p.D105Y|KIAA1324_uc010ovg.1_Missense_Mutation_p.D3Y NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 105 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.D105E(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGATATGAAGGACCAGTCATG 0.587 NA 36 114 6.97489e-18 9.55384e-18 0.004878 1 0 NBPF15 284565 broad.mit.edu 37 1 148594621 148594621 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:148594621G>A uc001esc.2 + 19 2483 c.1994G>A c.(1993-1995)GGA>GAA p.G665E NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 665 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) TTCCAGATGGGAGTCATATTC 0.443 NA 5 191 0 0 0.001984 0 0 FAM5C 339479 broad.mit.edu 37 1 190068054 190068054 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:190068054G>T uc001gse.1 - 8 1627 c.1395C>A c.(1393-1395)ACC>ACA p.T465T FAM5C_uc010pot.1_Silent_p.T363T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 465 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GCATGTAGCCGGTGTTGCAGG 0.597 NA 52 109 1.42923e-14 1.92532e-14 0.00361 1 0 SLC41A1 254428 broad.mit.edu 37 1 205760707 205760707 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:205760707T>A uc001hdh.1 - 11 2368 c.1496A>T c.(1495-1497)CAT>CTT p.H499L SLC41A1_uc001hdg.1_Missense_Mutation_p.H120L NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 499 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCAGAGAACATGGAAGCTGAG 0.552 NA OREG0014162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 0.000248 0 0 KCNK2 3776 broad.mit.edu 37 1 215342563 215342563 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:215342563G>T uc001hkq.2 + 4 666 c.497G>T c.(496-498)CGC>CTC p.R166L KCNK2_uc001hko.2_Missense_Mutation_p.R162L|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.R151L NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 166 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCACCACGCACAGAAGGC 0.294 NA 33 92 8.73648e-17 1.18671e-16 0.004289 1 0 RAB3GAP2 25782 broad.mit.edu 37 1 220345342 220345342 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:220345342C>A uc010puk.1 - 23 2630 c.2466G>T c.(2464-2466)CAG>CAT p.Q822H RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q402H NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 822 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TGCGCATCTGCTGCCACCATG 0.468 NA 20 41 1.33834e-09 1.66526e-09 0.007413 1 0 GPR137B 7107 broad.mit.edu 37 1 236343183 236343183 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:236343183C>T uc001hxq.2 + 4 783 c.692C>T c.(691-693)TCC>TTC p.S231F GPR137B_uc001hxr.1_Missense_Mutation_p.S13F|GPR137B_uc009xge.2_RNA NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 231 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TTCCAGGGCTCCTCCGTGTGT 0.547 NA 59 151 0 0 0.00361 0 0 COL13A1 1305 broad.mit.edu 37 10 71716763 71716763 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:71716763G>A uc001jpr.1 + 38 2652 c.2116G>A c.(2116-2118)GAA>AAA p.E706K COL13A1_uc001jqj.1_Missense_Mutation_p.E679K|COL13A1_uc001jps.1_Missense_Mutation_p.E677K|COL13A1_uc001jpt.1_Missense_Mutation_p.E665K|COL13A1_uc001jpu.1_Missense_Mutation_p.E675K|COL13A1_uc001jpv.1_Missense_Mutation_p.E680K|COL13A1_uc001jpx.1_Missense_Mutation_p.E657K|COL13A1_uc001jpw.1_Missense_Mutation_p.E653K|COL13A1_uc001jpy.1_Missense_Mutation_p.E644K|COL13A1_uc001jpz.1_Missense_Mutation_p.E649K|COL13A1_uc001jqa.1_Missense_Mutation_p.E646K|COL13A1_uc001jqc.1_Missense_Mutation_p.E691K|COL13A1_uc001jqb.1_Missense_Mutation_p.E599K|COL13A1_uc001jql.2_Missense_Mutation_p.E706K|COL13A1_uc001jqd.1_Missense_Mutation_p.E694K|COL13A1_uc001jqe.1_Missense_Mutation_p.E689K|COL13A1_uc001jqf.1_Missense_Mutation_p.E687K|COL13A1_uc001jqg.1_Missense_Mutation_p.E684K|COL13A1_uc001jqh.1_Missense_Mutation_p.E694K|COL13A1_uc001jqi.1_Missense_Mutation_p.E692K|COL13A1_uc010qjf.1_Missense_Mutation_p.E481K NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 706 Extracellular (Potential).|Nonhelical region 4 (NC4). E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CTTGCAGGGCGAAGATGGCTT 0.557 NA 14 36 0 0 0.00499 0 0 TH 7054 broad.mit.edu 37 11 2189322 2189322 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:2189322G>T uc001lvq.2 - 5 687 c.668C>A c.(667-669)CCG>CAG p.P223Q TH_uc001lvp.2_Missense_Mutation_p.P219Q|TH_uc001lvr.2_Missense_Mutation_p.P192Q|TH_uc010qxj.1_Missense_Mutation_p.P196Q|TH_uc001lvs.2_Missense_Mutation_p.P192Q|TH_uc001lvt.2_Missense_Mutation_p.P196Q|TH_uc009ydh.1_RNA NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 223 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACCACTCACCGGGTGGTCCAA 0.597 NA 10 52 0.000442599 0.000494135 0.006214 1 0 OR2AG2 338755 broad.mit.edu 37 11 6789746 6789746 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:6789746G>C uc001meq.1 - 1 443 c.443C>G c.(442-444)TCC>TGC p.S148C NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGATCCAGGATGTGGCCAC 0.507 NA 12 56 0 0 0.001368 0 0 EXT2 2132 broad.mit.edu 37 11 44135768 44135768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:44135768G>T uc001mxz.2 + 4 994 c.660G>T c.(658-660)TGG>TGT p.W220C EXT2_uc010rfo.1_Missense_Mutation_p.W248C|EXT2_uc001mxy.2_Missense_Mutation_p.W233C|EXT2_uc009ykt.2_Missense_Mutation_p.W220C|EXT2_uc001mya.2_Missense_Mutation_p.W253C NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 220 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 TTTCTACGTGGACTTACCGGC 0.473 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 43 116 3.43241e-23 4.74139e-23 0.002222 1 0 PGR 5241 broad.mit.edu 37 11 100962496 100962496 + Missense_Mutation SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:100962496A>C uc001pgh.2 - 3 2644 c.1901T>G c.(1900-1902)CTT>CGT p.L634R PGR_uc001pgi.2_Missense_Mutation_p.L634R|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_Intron NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 634 Nuclear receptor. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATTACCTCCAAGGACCATGCC 0.363 Pancreas(124;2271 2354 21954 22882) NA 11 25 0 0 0.001855 0 0 AMICA1 120425 broad.mit.edu 37 11 118081271 118081271 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:118081271G>A uc001psk.2 - 4 529 c.355C>T c.(355-357)CGC>TGC p.R119C AMICA1_uc001psh.2_Missense_Mutation_p.R80C|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.R109C|AMICA1_uc001psj.2_Missense_Mutation_p.R119C|AMICA1_uc010rxw.1_Missense_Mutation_p.R80C|AMICA1_uc010rxx.1_Missense_Mutation_p.R119C|AMICA1_uc001psl.1_Missense_Mutation_p.R75C NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 119 Ig-like V-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTTTGAGGCGGATTTCACAG 0.522 NA 28 88 0 0 0.008361 0 0 ROBO4 54538 broad.mit.edu 37 11 124756661 124756661 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:124756661G>A uc001qbg.2 - 16 2633 c.2493C>T c.(2491-2493)ATC>ATT p.I831I ROBO4_uc010sas.1_Silent_p.I686I|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.I389I NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 831 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TTGGGACGCTGATGTACCCAT 0.622 NA 26 43 0 0 0.005443 0 0 KCNA6 3742 broad.mit.edu 37 12 4920464 4920464 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:4920464A>T uc001qng.2 + 1 2123 c.1257A>T c.(1255-1257)ACA>ACT p.T419T NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 419 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CAGTGGTTACAATGACCACGG 0.587 NA HNSCC(72;0.22) 21 79 0 0 0.001882 0 0 DIP2B 57609 broad.mit.edu 37 12 51065071 51065071 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:51065071G>A uc001rwv.2 + 5 686 c.530G>A c.(529-531)CGT>CAT p.R177H DIP2B_uc001rwu.2_Missense_Mutation_p.R177H|DIP2B_uc009zls.1_Missense_Mutation_p.R59H NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 177 Ser-rich. nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TGGATCAACCGTTCAATTCAG 0.527 NA 17 112 0 0 0.004007 0 0 OR10P1 121130 broad.mit.edu 37 12 56031203 56031203 + Silent SNP G G T rs147317388 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:56031203G>T uc010spq.1 + 1 528 c.528G>T c.(526-528)CCG>CCT p.P176P NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CGATCATCCCGCACTTTCTCT 0.562 NA 20 100 1.01871e-10 1.29727e-10 0.008871 1 0 TPCN1 53373 broad.mit.edu 37 12 113710467 113710467 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:113710467C>T uc001tuw.2 + 8 1050 c.753C>T c.(751-753)TTC>TTT p.F251F TPCN1_uc001tux.2_Silent_p.F323F|TPCN1_uc010syt.1_Silent_p.F183F NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 251 Helical; Name=S5 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TTCTAGGTTTCTACTTGTTCT 0.468 NA 131 251 0 0 0.00361 0 0 TPCN1 53373 broad.mit.edu 37 12 113717996 113717996 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:113717996C>T uc001tuw.2 + 15 1635 c.1338C>T c.(1336-1338)TTC>TTT p.F446F TPCN1_uc001tux.2_Silent_p.F518F|TPCN1_uc010syt.1_Silent_p.F378F NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 446 Helical; Name=S1 of repeat II; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TCCAGTATTTCATGTGTAAGT 0.423 NA 13 49 0 0 0.001855 0 0 LOC647288 647288 broad.mit.edu 37 13 75814192 75814192 + Silent SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr13:75814192T>C uc010ths.1 - 1 326 c.285A>G c.(283-285)AAA>AAG p.K95K NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 TAAGGCTAAATTTTTCAAGTA 0.393 NA 12 200 0 0 0.000978 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328860 88328860 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr13:88328860C>T uc001vln.2 + 2 1436 c.1217C>T c.(1216-1218)CCC>CTC p.P406L SLITRK5_uc010tic.1_Missense_Mutation_p.P165L NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 406 Extracellular (Potential).|LRRNT. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAACTGCAGCCCAAGCCCTAC 0.567 NA 14 32 0 0 0.001855 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352570 51352570 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:51352570G>C uc001wys.2 + 7 634 c.619G>C c.(619-621)GGC>CGC p.G207R ABHD12B_uc001wyq.2_Missense_Mutation_p.G100R|ABHD12B_uc001wyr.2_Missense_Mutation_p.G130R|ABHD12B_uc010any.2_Intron NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 207 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) GGCAAGAAGTGGCATCACTCC 0.522 NA 47 124 0 0 0.003214 0 0 NID2 22795 broad.mit.edu 37 14 52507564 52507564 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:52507564C>A uc001wzo.2 - 8 2065 c.1831G>T c.(1831-1833)GCC>TCC p.A611S NID2_uc010tqs.1_Missense_Mutation_p.A611S|NID2_uc010tqt.1_Missense_Mutation_p.A611S|NID2_uc001wzp.2_Missense_Mutation_p.A611S NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 611 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGGGTAAAGGCAGCACCTGGA 0.473 NA 23 89 3.62473e-10 4.54486e-10 0.001882 1 0 KCNK10 54207 broad.mit.edu 37 14 88693778 88693778 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:88693778C>G uc001xwo.2 - 4 1064 c.607G>C c.(607-609)GGA>CGA p.G203R KCNK10_uc001xwm.2_Missense_Mutation_p.G208R|KCNK10_uc001xwn.2_Missense_Mutation_p.G208R NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 203 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 AGTTGGTCTCCAATTCCAGCC 0.403 NA 49 136 0 0 0.00361 0 0 JAG2 3714 broad.mit.edu 37 14 105609331 105609331 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:105609331G>A uc001yqg.2 - 26 3822 c.3418C>T c.(3418-3420)CGG>TGG p.R1140W JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.R544W|JAG2_uc001yqh.2_Missense_Mutation_p.R1102W NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1140 Cytoplasmic (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCCCCGGCCGCTCAATGGGG 0.483 NA 15 24 0 0 0.004007 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32915726 32915726 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:32915726C>G uc001zgy.1 + 3 956 c.234C>G c.(232-234)GAC>GAG p.D78E ARHGAP11A_uc010ubw.1_5'UTR|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.D78E|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.D78E|ARHGAP11A_uc010ubx.1_5'UTR NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 78 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CTTTAGAAGACCATATTCATA 0.373 Colon(45;757 1134 30003 36652) NA 17 93 0 0 0.001523 0 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:38791143G>A uc001zke.3 - 15 1903 c.1725C>T c.(1723-1725)TGC>TGT p.C575C RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Silent_p.C402C|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Silent_p.C540C NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 575 Phorbol-ester/DAG-type. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468 NA 5 331 0 0 0.001168 0 0 STRC 161497 broad.mit.edu 37 15 43892287 43892287 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:43892287G>A uc001zsf.2 - 28 5188 c.5110C>T c.(5110-5112)CAA>TAA p.Q1704* STRC_uc010bdl.2_Nonsense_Mutation_p.Q931*|STRC_uc001zse.2_Nonsense_Mutation_p.Q222* NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1704 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTAGATAGTTGGATGGGACTA 0.557 NA 17 35 0 0 0.007413 0 0 UNC13C 440279 broad.mit.edu 37 15 54793103 54793103 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:54793103G>A uc002ack.2 + 20 5228 c.5228G>A c.(5227-5229)AGC>AAC p.S1743N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1743 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGAATCAGAGCTTTGAAATT 0.408 NA 13 100 0 0 0.00245 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:72954797T>C uc010uks.1 + 11 1093 c.1052T>C c.(1051-1053)GTG>GCG p.V351A NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 351 Potential. 0 GAGCAGGAGGTGCAGAGAGTG 0.562 NA 3 0 0 0 0.000602 0 0 USP7 7874 broad.mit.edu 37 16 8993490 8993490 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:8993490T>A uc002czl.2 - 22 2633 c.2434A>T c.(2434-2436)ACG>TCG p.T812S USP7_uc010uyk.1_Missense_Mutation_p.T713S|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.T713S|USP7_uc002czk.2_Missense_Mutation_p.T796S NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 812 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TTTGATAACGTAACCACAAAT 0.363 NA 37 79 0 0 0.005524 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931885 11931885 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:11931885G>A uc002dbp.1 - 9 1305 c.1232C>T c.(1231-1233)CCA>CTA p.P411L RSL1D1_uc010buv.1_Missense_Mutation_p.P410L|RSL1D1_uc010uyw.1_Missense_Mutation_p.P191L NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 411 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 ctcagatgctggcaaagcctt 0.159 NA 18 501 0 0 0.006122 0 0 CCDC113 29070 broad.mit.edu 37 16 58312467 58312467 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:58312467G>A uc002ene.2 + 8 1052 c.973G>A c.(973-975)GTC>ATC p.V325I CCDC113_uc010vid.1_Missense_Mutation_p.V271I NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 325 Potential. protein complex 0 GATGACTTACGTCCGGGAGAA 0.587 NA 34 50 0 0 0.002836 0 0 NUP88 4927 broad.mit.edu 37 17 5317415 5317415 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:5317415G>A uc002gbo.1 - 3 533 c.507C>T c.(505-507)ACC>ACT p.T169T NUP88_uc010vsx.1_Silent_p.T169T|NUP88_uc010cle.1_Silent_p.T169T|NUP88_uc010vsy.1_Silent_p.T169T NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 169 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 GAGTCAGAGAGGTGGAACTGG 0.368 NA 14 12 0 0 0.001855 0 0 TP53 7157 broad.mit.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:7578536T>C uc002gim.2 - 5 588 c.394A>G c.(394-396)AAG>GAG p.K132E TP53_uc002gig.1_Missense_Mutation_p.K132E|TP53_uc002gih.2_Missense_Mutation_p.K132E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132E|TP53_uc010cni.1_Missense_Mutation_p.K132E|TP53_uc002gij.2_Missense_Mutation_p.K132E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39E|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (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.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131del(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(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) CAAAACATCTTGTTGAGGGCA 0.557 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 15 0 0 0.004482 0 0 CCL8 6355 broad.mit.edu 37 17 32646553 32646553 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:32646553G>T uc002hib.2 + 1 488 c.33G>T c.(31-33)CTG>CTT p.L11L NM_005623 NP_005614 P80075 CCL8_HUMAN small inducible cytokine A8 precursor 11 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) TGTGCCTGCTGCTCATGGCAG 0.512 NA 13 51 3.45872e-05 3.94245e-05 0.004007 1 0 Unknown 0 broad.mit.edu 37 17 45127332 45127332 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:45127332G>A uc010wkj.1 + 2 884 c.530G>A c.(529-531)CGC>CAC p.R177H uc010wkl.1_RNA SubName: Full=Putative uncharacterized protein LRRC37A3; NA ACTCGCTCCCGCATGACCCAC 0.418 NA 5 216 0 0 0.001168 0 0 KCTD2 23510 broad.mit.edu 37 17 73045381 73045381 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:73045381C>T uc002jmp.2 + 2 473 c.406C>T c.(406-408)CGC>TGC p.R136C KCTD2_uc010dfy.1_RNA|KCTD2_uc010dfz.2_RNA|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 136 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) CAACTACCTCCGCCACGGGAA 0.468 NA 8 84 0 0 0.00308 0 0 NPLOC4 55666 broad.mit.edu 37 17 79580446 79580446 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:79580446G>A uc002kat.3 - 4 466 c.284C>T c.(283-285)CCG>CTG p.P95L NPLOC4_uc002kau.3_Missense_Mutation_p.P95L|NPLOC4_uc010wur.1_5'UTR NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 95 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTTGAAGCCCGGTGGAACTGA 0.517 NA 33 29 0 0 0.003271 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:14542693C>T uc010dln.2 - 1 907 c.453G>A c.(451-453)AAG>AAA p.K151K POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 151 ANK 1. skin(3) 3 TTCTGGGGACCTTACCCCACC 0.592 NA 6 171 0 0 0.008291 0 0 ZNF521 25925 broad.mit.edu 37 18 22804461 22804462 + Missense_Mutation DNP AG AG TA TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:22804461_22804462AG>TA uc002kvk.2 - 4 3667_3668 c.3420_3421CT>TA c.(3418-3423)TGCTCT>TGTACT p.S1141T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S1141T|ZNF521_uc002kvl.2_Missense_Mutation_p.S921T NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1141 C2H2-type 26. 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) TTGCAGCTAGAGCAGCGTGTCT 0.53 NA T PAX5 ALL 25 45 0 0 0.004672 0 0 TCF4 6925 broad.mit.edu 37 18 52901847 52901847 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:52901847G>T uc002lfz.2 - 16 2030 c.1418C>A c.(1417-1419)CCG>CAG p.P473Q TCF4_uc002lfw.3_Missense_Mutation_p.P313Q|TCF4_uc010xdu.1_Missense_Mutation_p.P343Q|TCF4_uc010xdv.1_Missense_Mutation_p.P343Q|TCF4_uc002lfx.2_Missense_Mutation_p.P402Q|TCF4_uc010xdw.1_Missense_Mutation_p.P343Q|TCF4_uc002lfy.2_Missense_Mutation_p.P431Q|TCF4_uc010xdx.1_Missense_Mutation_p.P449Q|TCF4_uc010dph.1_Missense_Mutation_p.P473Q|TCF4_uc010xdy.1_Missense_Mutation_p.P449Q|TCF4_uc002lga.2_Missense_Mutation_p.P575Q|TCF4_uc002lgb.1_Missense_Mutation_p.P313Q|TCF4_uc010dpi.2_Missense_Mutation_p.P479Q|TCF4_uc002lfv.2_Missense_Mutation_p.P256Q NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 473 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CTGTGGAACCGGAACCTGGTT 0.597 NA OREG0024990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 1.01871e-10 1.29727e-10 0.008871 1 0 STK11 6794 broad.mit.edu 37 19 1220685 1220685 + Nonsense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:1220685A>T uc002lrl.1 + 5 1818 c.703A>T c.(703-705)AAG>TAG p.K235* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 235 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.?(2) 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) CTCCGGCTTCAAGGTGGACAT 0.697 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 12 17 0 0 0.000978 0 0 KEAP1 9817 broad.mit.edu 37 19 10610285 10610285 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:10610285G>A uc002moq.1 - 2 581 c.425C>T c.(424-426)ACG>ATG p.T142M KEAP1_uc002mor.1_Missense_Mutation_p.T142M NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 142 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GATGGAGGCCGTGTAGGCGAA 0.587 NA 17 22 0 0 0.00499 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 NA 3 47 0 0 0.004672 0 0 ZNF254 9534 broad.mit.edu 37 19 24310436 24310436 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:24310436C>G uc002nru.2 + 4 1768 c.1634C>G c.(1633-1635)CCC>CGC p.P545R ZNF254_uc010xrk.1_Missense_Mutation_p.P460R NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 545 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GAAGAGAAACCCTACAAATGT 0.363 NA 13 26 0 0 0.001368 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769002 31769002 + Nonsense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:31769002G>T uc002nsy.3 - 2 1762 c.1697C>A c.(1696-1698)TCG>TAG p.S566* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 566 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M566I(1) ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CTTCCCCGACGAGCCCAGGGA 0.587 NA 38 56 1.67305e-13 2.21713e-13 0.00623 1 0 LSM14A 26065 broad.mit.edu 37 19 34712504 34712504 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:34712504G>A uc002nvb.3 + 9 1425 c.1229G>A c.(1228-1230)AGA>AAA p.R410K LSM14A_uc002nva.3_Missense_Mutation_p.R410K|LSM14A_uc010xru.1_Missense_Mutation_p.R369K|LSM14A_uc002nvc.3_Missense_Mutation_p.R216K NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 410 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) GGGGGATACAGAGGCAGAGGA 0.537 NA 12 32 0 0 0.001855 0 0 CD37 951 broad.mit.edu 37 19 49843570 49843570 + Silent SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:49843570C>A uc002pnd.2 + 8 952 c.831C>A c.(829-831)CTC>CTA p.L277L uc002pnb.1_5'Flank|CD37_uc002pnc.2_RNA|CD37_uc002pne.2_Silent_p.L209L NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 277 Cytoplasmic (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) ACAACCGGCTCGCTCGATACC 0.577 NA 20 24 1.22574e-08 1.5136e-08 0.002299 1 0 KLK7 5650 broad.mit.edu 37 19 51483661 51483661 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:51483661G>C uc002puo.2 - 4 406 c.304C>G c.(304-306)CCC>GCC p.P102A KLK7_uc002pup.2_Missense_Mutation_p.P102A|KLK7_uc010yco.1_5'UTR|KLK7_uc010eok.2_Missense_Mutation_p.P30A NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 102 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GAGTAGCCGGGGTGGCGGAAT 0.572 NA 17 22 0 0 0.00499 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340832 55340832 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:55340832G>A uc002qhk.3 + 7 1080 c.1017G>A c.(1015-1017)CTG>CTA p.L339L KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.L264L|KIR3DL1_uc010esf.2_Silent_p.L244L|KIR3DL1_uc010yfo.1_Silent_p.L281L|KIR3DL1_uc002qhl.3_Intron NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 339 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CCAGACACCTGCACATTCTGA 0.338 NA 2 0 0 0 0.004672 0 0 LTBP1 4052 broad.mit.edu 37 2 33359878 33359878 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:33359878G>A uc002ros.2 + 5 1052 c.1052G>A c.(1051-1053)CGC>CAC p.R351H LTBP1_uc002rot.2_Missense_Mutation_p.R25H|LTBP1_uc002rou.2_Missense_Mutation_p.R25H|LTBP1_uc002rov.2_Missense_Mutation_p.R25H|LTBP1_uc010ymz.1_Missense_Mutation_p.R25H|LTBP1_uc010yna.1_Missense_Mutation_p.R25H NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 351 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACACTGGCCGCATCAAGGTG 0.478 NA 4 141 0 0 0.000602 0 0 EPCAM 4072 broad.mit.edu 37 2 47606164 47606164 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:47606164G>A uc002rvx.2 + 6 986 c.628G>A c.(628-630)GCT>ACT p.A210T EPCAM_uc002rvw.2_Missense_Mutation_p.A238T NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 210 Extracellular (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 TGTGGACATAGCTGATGTGGC 0.294 NA Lynch_syndrome 20 68 0 0 0.001882 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848037 48848037 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:48848037G>T uc010yol.1 + 3 2228 c.2181G>T c.(2179-2181)CGG>CGT p.R727R STON1-GTF2A1L_uc002rwp.1_Silent_p.R727R|GTF2A1L_uc002rws.1_Silent_p.R23R|GTF2A1L_uc010yom.1_Intron|GTF2A1L_uc002rwt.2_Silent_p.R23R NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 727 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGGAGTTCGGAATCTATTTG 0.289 NA 13 44 0.00316338 0.00350769 0.003163 1 0 RPL23AP32 56969 broad.mit.edu 37 2 54756736 54756736 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:54756736T>C uc010yot.1 + 1 378 c.254T>C c.(253-255)TTT>TCT p.F85S SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron NR_002229 SubName: Full=Putative uncharacterized protein DKFZp547I014; 0 ACCACTGAGTTTGCCATGAAG 0.483 NA 3 63 0 0 0.000248 0 0 RGPD4 285190 broad.mit.edu 37 2 108488692 108488692 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:108488692T>C uc010ywk.1 + 20 4314 c.4232T>C c.(4231-4233)ATA>ACA p.I1411T RGPD4_uc002tdu.2_Missense_Mutation_p.I598T|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1411 RanBD1 2. intracellular transport binding skin(2) 2 AATCACACAATAACTCCAGAC 0.358 NA 239 511 0 0 0.00361 0 0 LRP1B 53353 broad.mit.edu 37 2 141709451 141709451 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:141709451G>T uc002tvj.1 - 19 3918 c.2946C>A c.(2944-2946)AGC>AGA p.S982R LRP1B_uc010fnl.1_Missense_Mutation_p.S164R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 982 Extracellular (Potential).|LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) GCCATTTGCTGCTAATGCATC 0.443 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 20 31 7.92952e-12 1.03401e-11 0.003954 1 0 ARL5A 26225 broad.mit.edu 37 2 152663470 152663470 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:152663470C>G uc002txx.1 - 5 675 c.356G>C c.(355-357)GGA>GCA p.G119A ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.G82A|ARL5A_uc002txw.1_Missense_Mutation_p.G82A NM_012097 NP_036229 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A isoform 1 119 small GTPase mediated signal transduction intracellular GTP binding 0 BRCA - Breast invasive adenocarcinoma(221;0.153) AATCAGCAATCCAGCTTTTCT 0.318 NA 6 53 0 0 0.004482 0 0 GCA 25801 broad.mit.edu 37 2 163208879 163208879 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:163208879G>C uc002ucg.2 + 3 400 c.224G>C c.(223-225)AGA>ACA p.R75T GCA_uc010zcu.1_Missense_Mutation_p.R56T NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 75 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 GAACTTCAGAGATGTTTGACA 0.299 NA 20 69 0 0 0.001882 0 0 FIGN 55137 broad.mit.edu 37 2 164466086 164466086 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:164466086G>T uc002uck.1 - 3 2567 c.2256C>A c.(2254-2256)AAC>AAA p.N752K NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 752 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CAAACATTTTGTTCCATTCAA 0.378 NA 8 62 0.000157383 0.000176921 0.00308 1 0 SCN1A 6323 broad.mit.edu 37 2 166900385 166900385 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:166900385G>A uc010zcz.1 - 11 1855 c.1837C>T c.(1837-1839)CGA>TGA p.R613* SCN1A_uc002udo.3_Nonsense_Mutation_p.R482*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.R482* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 613 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCCGTGTCGTCGGGGCACA 0.542 NA 12 57 0 0 0.000978 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Silent SNP C C A rs144099662 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:168726189C>A uc002udz.1 + 2 991 c.640C>A c.(640-642)CGG>AGG p.R214R NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 214 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 AGGACCGATTCGGGATGTCCG 0.438 NA 9 75 7.48243e-07 8.90245e-07 0.006214 1 0 PLEKHA3 65977 broad.mit.edu 37 2 179358664 179358664 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179358664C>T uc002umn.2 + 4 796 c.398C>T c.(397-399)ACA>ATA p.T133I NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 133 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) CAAGTTCATACAATACAGGAA 0.403 NA 8 68 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179432140 179432140 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179432140C>A uc010zfg.1 - 275 71239 c.71015G>T c.(71014-71016)TGT>TTT p.C23672F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C17367F|TTN_uc010zfi.1_Missense_Mutation_p.C17300F|TTN_uc010zfj.1_Missense_Mutation_p.C17175F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24599 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTATTTCACATCTAGCAGA 0.388 NA 61 159 4.32865e-36 6.03051e-36 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179614601 179614601 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179614601T>A uc002unb.2 - 46 12750 c.12526A>T c.(12526-12528)ATC>TTC p.I4176F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAAGAATGATGGAATCCCCT 0.373 NA 22 45 0 0 0.001882 0 0 AOX1 316 broad.mit.edu 37 2 201468820 201468820 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:201468820G>T uc002uvx.2 + 8 770 c.669G>T c.(667-669)ATG>ATT p.M223I NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 223 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTGAGCTAATGGTGAGTAAAG 0.403 NA 19 33 2.94398e-08 3.58111e-08 0.007413 1 0 RBM44 375316 broad.mit.edu 37 2 238729761 238729761 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:238729761T>C uc002vxi.3 + 6 2096 c.1964T>C c.(1963-1965)CTG>CCG p.L655P NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 654 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TCAGCACTACTGTCTCTTTTG 0.378 NA 16 30 0 0 0.00499 0 0 AGXT 189 broad.mit.edu 37 2 241812439 241812439 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:241812439G>A uc002waa.3 + 5 689 c.568G>A c.(568-570)GGG>AGG p.G190R AGXT_uc010zoi.1_Missense_Mutation_p.G190R NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 190 G -> R (in HP1). glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATCCCTGGGCGGGACCCCCCT 0.662 NA 13 84 0 0 0.003163 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625875T>C uc010ztl.1 + 2 61 c.29T>C c.(28-30)ATC>ACC p.I10T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGTACAGAATCGCCCTGAAA 0.353 NA 3 79 0 0 0.00308 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625877G>A uc010ztl.1 + 2 63 c.31G>A c.(31-33)GCC>ACC p.A11T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GTACAGAATCGCCCTGAAATC 0.353 NA 5 79 0 0 0.00308 0 0 FRG1B 284802 broad.mit.edu 37 20 29625895 29625895 + Missense_Mutation SNP G G A rs76435412 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625895G>A uc010ztl.1 + 2 81 c.49G>A c.(49-51)GGA>AGA p.G17R FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATCTGGCTATGGAAAATATCT 0.343 NA 15 74 0 0 0.007413 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625941A>T uc010ztl.1 + 2 127 c.95A>T c.(94-96)GAT>GTT p.D32V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGGCATTCAGATGCAATTGGA 0.333 NA 6 70 0 0 0.008291 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29628263A>G uc010ztl.1 + 3 207 c.175A>G c.(175-177)ATT>GTT p.I59V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TAGCTGCTTTATTAGATGCAA 0.363 NA 3 66 0 0 0.001984 0 0 PARD6B 84612 broad.mit.edu 37 20 49366455 49366455 + Silent SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:49366455A>G uc002xvo.2 + 3 792 c.549A>G c.(547-549)CCA>CCG p.P183P NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN PAR-6 beta 183 PDZ.|Interaction with PARD3 and CDC42 (By similarity). axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding kidney(1) 1 GGGTAACACCACATGGCTTAG 0.473 NA 22 41 0 0 0.001882 0 0 DIDO1 11083 broad.mit.edu 37 20 61541330 61541330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:61541330G>A uc002ydr.1 - 4 1146 c.882C>T c.(880-882)GGC>GGT p.G294G DIDO1_uc002yds.1_Silent_p.G294G|DIDO1_uc002ydt.1_Silent_p.G294G|DIDO1_uc002ydu.1_Silent_p.G294G|DIDO1_uc002ydv.1_Silent_p.G294G|DIDO1_uc002ydw.1_Silent_p.G294G|DIDO1_uc002ydx.1_Silent_p.G294G|DIDO1_uc011aao.1_Silent_p.G294G NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 294 PHD-type. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CCACACAATCGCCATGAAACC 0.448 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 23 35 0 0 0.003954 0 0 MN1 4330 broad.mit.edu 37 22 28194109 28194109 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr22:28194109C>G uc003adj.2 - 1 3378 c.2423G>C c.(2422-2424)GGC>GCC p.G808A NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 808 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GTTGAAGGAGCCCAGCGAGAG 0.677 NA T ETV6 AML|meningioma 22 39 0 0 0.001523 0 0 BOD1L 259282 broad.mit.edu 37 4 13604663 13604663 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:13604663C>T uc003gmz.1 - 10 3978 c.3861G>A c.(3859-3861)GTG>GTA p.V1287V BOD1L_uc010idr.1_Silent_p.V624V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1287 DNA binding ovary(5)|breast(1) 6 GCACAACAGTCACTGAACTTA 0.448 NA 17 37 0 0 0.004007 0 0 LRRC66 339977 broad.mit.edu 37 4 52861066 52861067 + Missense_Mutation DNP CC CC AA TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:52861066_52861067CC>AA uc003gzi.2 - 4 2134_2135 c.2121_2122GG>TT c.(2119-2124)GAGGGG>GATTGG p.707_708EG>DW NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 707_708 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 AACAGAGACCCCTCATCAGAGT 0.53 NA 31 61 0 0 0.004672 0 0 TECRL 253017 broad.mit.edu 37 4 65175604 65175604 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:65175604C>A uc003hcv.2 - 6 706 c.597G>T c.(595-597)TTG>TTT p.L199F TECRL_uc003hcw.2_Missense_Mutation_p.L199F NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 199 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 ATAAGGTTTCCAAAAGGTATC 0.338 NA 40 100 1.03484e-13 1.38261e-13 0.005524 1 0 EPHA5 2044 broad.mit.edu 37 4 66201731 66201731 + Missense_Mutation SNP T T G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:66201731T>G uc003hcy.2 - 16 2964 c.2771A>C c.(2770-2772)AAG>ACG p.K924T EPHA5_uc003hcx.2_Missense_Mutation_p.K856T|EPHA5_uc003hcz.2_Missense_Mutation_p.K902T|EPHA5_uc011cah.1_Missense_Mutation_p.K925T|EPHA5_uc011cai.1_Missense_Mutation_p.K903T|EPHA5_uc003hda.2_Missense_Mutation_p.K925T NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 924 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTCATCAAACTTGGGCCTGCT 0.488 NA TSP Lung(17;0.13) 14 76 0 0 0.00245 0 0 ANP32C 23520 broad.mit.edu 37 4 165118439 165118439 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:165118439T>A uc011cjk.1 - 1 425 c.425A>T c.(424-426)GAC>GTC p.D142V MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 142 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GTAACAGCTGTCGAGATATGT 0.507 NA 12 126 0 0 0.00245 0 0 SNX24 28966 broad.mit.edu 37 5 122281813 122281813 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr5:122281813G>A uc011cwo.1 + 3 377 c.208G>A c.(208-210)GTC>ATC p.V70I SNX24_uc003ktf.2_Missense_Mutation_p.V70I|SNX24_uc010jcy.2_Missense_Mutation_p.V70I NM_014035 NP_054754 Q9Y343 SNX24_HUMAN SBBI31 protein 70 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) GGTCCCCAAAGTCTTGGAACA 0.323 NA 7 41 0 0 0.004482 0 0 PCDHB18 54660 broad.mit.edu 37 5 140616088 140616088 + Silent SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr5:140616088C>A uc003ljc.1 + 1 2151 c.1803C>A c.(1801-1803)GCC>GCA p.A601A NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 CGCGCTCGGCCACCGCCACGC 0.716 NA 4 38 1.23904e-05 1.42228e-05 0.000602 1 0 HIST1H3D 8351 broad.mit.edu 37 6 26199202 26199202 + Translation_Start_Site SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:26199202G>A uc003ngv.2 - 1 263 c.-134C>T c.(-136--132)AACGA>AATGA HIST1H2AD_uc003ngw.2_Silent_p.N90N|HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) GCTCCTCGTCGTTGCGGATGG 0.597 GBM(108;3816 4467) NA 24 132 0 0 0.005443 0 0 BAI3 577 broad.mit.edu 37 6 69640468 69640468 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:69640468G>T uc003pev.3 + 4 1223 c.775G>T c.(775-777)GAT>TAT p.D259Y BAI3_uc010kak.2_Missense_Mutation_p.D259Y NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 259 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AATGATGGGAGATCATACAAT 0.368 NA 9 23 2.74318e-10 3.46619e-10 0.006214 1 0 GABRR1 2569 broad.mit.edu 37 6 89888768 89888768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:89888768G>T uc003pna.2 - 10 1616 c.1161C>A c.(1159-1161)AGC>AGA p.S387R GABRR1_uc011dzv.1_Missense_Mutation_p.S364R NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 387 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GAGGTAATCCGCTGGTGCAGG 0.542 NA 11 21 1.08611e-07 1.31137e-07 0.000978 1 0 ZBTB24 9841 broad.mit.edu 37 6 109802316 109802316 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:109802316T>C uc003ptl.1 - 2 1082 c.914A>G c.(913-915)TAC>TGC p.Y305C ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Y305C|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.Y305C NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 305 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AAAGTGATTGTACTTAAAGAC 0.473 NA 46 103 0 0 0.00361 0 0 DDO 8528 broad.mit.edu 37 6 110714107 110714107 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:110714107A>T uc003puc.2 - 5 985 c.981T>A c.(979-981)CCT>CCA p.P327P C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.P268P NM_003649 NP_003640 Q99489 OXDD_HUMAN D-aspartate oxidase isoform a 299 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity ovary(2)|breast(1) 3 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GGTGGACTACAGGCAGCCTCT 0.637 NA 28 35 0 0 0.004656 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894610 47894610 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:47894610C>A uc003tny.1 - 30 4729 c.4729G>T c.(4729-4731)GTA>TTA p.V1577L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1577 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CGAAGTAATACAAATGTCGTT 0.348 NA 18 60 5.01169e-05 5.67296e-05 0.00499 1 0 TYW1B 441250 broad.mit.edu 37 7 72081774 72081774 + Silent SNP A A G rs3015854 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:72081774A>G uc011kej.1 - 16 1827 c.1668T>C c.(1666-1668)CAT>CAC p.H556H TYW1B_uc011keh.1_Silent_p.H394H|TYW1B_uc011kei.1_Silent_p.H182H NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 556 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 GCCAGGGCACATGGGCCATGG 0.493 NA 7 77 0 0 0.001984 0 0 ACTR3B 57180 broad.mit.edu 37 7 152549330 152549330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:152549330G>A uc003wle.1 + 10 1188 c.1071G>A c.(1069-1071)AGG>AGA p.R357R ACTR3B_uc003wlf.1_Intron|ACTR3B_uc003wlg.1_Silent_p.R269R|ACTR3B_uc011kvp.1_Silent_p.R269R NM_020445 NP_065178 Q9P1U1 ARP3B_HUMAN actin-related protein 3-beta isoform 1 357 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding 0 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GCGGCGGGAGGATCAAGGTAG 0.637 NA 12 38 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10470626 10470626 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr8:10470626G>A uc003wtc.2 - 4 1211 c.982C>T c.(982-984)CGC>TGC p.R328C NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 328 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGTGGAAGCGGACTTTCATC 0.657 NA 31 52 0 0 0.001786 0 0 CSMD3 114788 broad.mit.edu 37 8 113694836 113694836 + Nonsense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr8:113694836C>A uc003ynu.2 - 16 2671 c.2512G>T c.(2512-2514)GGA>TGA p.G838* CSMD3_uc003yns.2_Nonsense_Mutation_p.G110*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G798*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G734* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 838 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATTGGTATTCCAGGATCAGGG 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 68 1.17739e-12 1.5477e-12 0.005443 1 0 CCBL1 883 broad.mit.edu 37 9 131605043 131605043 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr9:131605043C>T uc004bwh.2 - 3 276 c.91G>A c.(91-93)GTG>ATG p.V31M CCBL1_uc004bwf.2_Missense_Mutation_p.V65M|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.V31M|CCBL1_uc004bwj.2_Missense_Mutation_p.V31M|CCBL1_uc011mbl.1_Missense_Mutation_p.V125M|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.V31M NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 31 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CCCAAGTTCACGACGTCATGC 0.562 NA 21 23 0 0 0.002299 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821243 5821243 + Silent SNP C C T rs9785605 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:5821243C>T uc010ndh.2 - 5 1977 c.1476G>A c.(1474-1476)GAG>GAA p.E492E NLGN4X_uc004crp.2_Silent_p.E512E|NLGN4X_uc004crq.2_Silent_p.E492E|NLGN4X_uc010ndi.2_Silent_p.E529E|NLGN4X_uc004crr.2_Silent_p.E492E|NLGN4X_uc010ndj.2_Silent_p.E492E NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 492 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CATAGGGGACCTCATCACCAT 0.557 NA 28 40 0 0 0.004289 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821249 5821249 + Silent SNP A A G rs9785509 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:5821249A>G uc010ndh.2 - 5 1971 c.1470T>C c.(1468-1470)GGT>GGC p.G490G NLGN4X_uc004crp.2_Silent_p.G510G|NLGN4X_uc004crq.2_Silent_p.G490G|NLGN4X_uc010ndi.2_Silent_p.G527G|NLGN4X_uc004crr.2_Silent_p.G490G|NLGN4X_uc010ndj.2_Silent_p.G490G NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 490 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GGACCTCATCACCATGGGCCG 0.567 NA 24 38 0 0 0.003271 0 0 MAGEB6 158809 broad.mit.edu 37 X 26211971 26211971 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:26211971G>T uc004dbr.2 + 2 157 c.8G>T c.(7-9)CGG>CTG p.R3L MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 3 ovary(3) 3 ATCATGCCTCGGGGTCACAAG 0.572 NA 16 70 3.32936e-07 3.99033e-07 0.006122 1 0 AR 367 broad.mit.edu 37 X 66863200 66863200 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:66863200A>T uc004dwu.1 + 2 2834 c.1719A>T c.(1717-1719)GGA>GGT p.G573G AR_uc011mpd.1_Silent_p.G573G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G573G|AR_uc004dwv.1_Silent_p.G41G NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 572 Interaction with HIPK3 (By similarity).|NR C4-type.|Nuclear receptor. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GTCACTATGGAGCTCTCACAT 0.493 NA Androgen_Insensitivity_Syndrome 21 57 0 0 0.001523 0 0 MED12 9968 broad.mit.edu 37 X 70354597 70354597 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:70354597G>A uc004dyy.2 + 35 4961 c.4762G>A c.(4762-4764)GTG>ATG p.V1588M MED12_uc011mpq.1_Missense_Mutation_p.V1588M|MED12_uc004dyz.2_Missense_Mutation_p.V1588M|MED12_uc004dza.2_Missense_Mutation_p.V1435M|MED12_uc010nla.2_Missense_Mutation_p.V214M NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1588 androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CATGCTGAGCGTGCTCATCAA 0.483 NA 36 137 0 0 0.004289 0 0 ATP7A 538 broad.mit.edu 37 X 77286941 77286941 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:77286941G>T uc004ecx.3 + 16 3315 c.3155G>T c.(3154-3156)GGA>GTA p.G1052V NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1052 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 ATTACTCACGGAACCCCAGTG 0.378 NA 91 197 1.78623e-52 2.50996e-52 0.00361 1 0 GPRASP2 114928 broad.mit.edu 37 X 101969872 101969872 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:101969872G>A uc004ejk.2 + 4 1409 c.75G>A c.(73-75)GGG>GGA p.G25G GPRASP2_uc004ejl.2_Silent_p.G25G|GPRASP2_uc004ejm.2_Silent_p.G25G|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 25 cytoplasm protein binding ovary(1) 1 TTATCGCTGGGCCTGAGAGAG 0.483 NA 46 100 0 0 0.002522 0 0 HTR2C 3358 broad.mit.edu 37 X 113965913 113965913 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:113965913G>T uc004epu.1 + 4 974 c.246G>T c.(244-246)AAG>AAT p.K82N HTR2C_uc010nqc.1_Missense_Mutation_p.K82N|HTR2C_uc004epv.1_Missense_Mutation_p.K82N NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 82 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GCATGGAAAAGAAACTGCACA 0.448 NA 4 118 2.56e-06 2.98057e-06 0.000248 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904436 144904436 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:144904436C>T uc004fcd.2 + 5 1483 c.493C>T c.(493-495)CTG>TTG p.L165L SLITRK2_uc010nsp.2_Silent_p.L165L|SLITRK2_uc010nso.2_Silent_p.L165L|SLITRK2_uc011mwq.1_Silent_p.L165L|SLITRK2_uc011mwr.1_Silent_p.L165L|SLITRK2_uc011mws.1_Silent_p.L165L|SLITRK2_uc004fcg.2_Silent_p.L165L|SLITRK2_uc011mwt.1_Silent_p.L165L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 165 Extracellular (Potential).|LRR 5. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AGTGCTCATCCTGAATGACAA 0.502 NA 45 143 0 0 0.003214 0 0 AFF2 2334 broad.mit.edu 37 X 147924509 147924509 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:147924509C>T uc004fcp.2 + 6 1672 c.1193C>T c.(1192-1194)CCA>CTA p.P398L AFF2_uc004fco.2_Missense_Mutation_p.P365L|AFF2_uc004fcq.2_Missense_Mutation_p.P394L|AFF2_uc004fcr.2_Missense_Mutation_p.P365L|AFF2_uc011mxb.1_Missense_Mutation_p.P369L|AFF2_uc004fcs.2_Missense_Mutation_p.P365L|AFF2_uc011mxc.1_Missense_Mutation_p.P39L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 398 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CATCTGACCCCAGGATTCACC 0.348 NA 36 145 0 0 0.003271 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696766 153696766 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:153696766G>A uc004flm.2 + 23 4257 c.4084G>A c.(4084-4086)GGC>AGC p.G1362S NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1362 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGCGACCGCGGCACCGTGGC 0.667 NA 6 34 0 0 0.001168 0 0 RIT1 6016 broad.mit.edu 37 1 155874531 155874532 + In_Frame_Ins INS - - GTATCCAAA TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:155874531_155874532insGTATCCAAA uc001fmh.1 - 4 414_415 c.227_228insTTTGGATAC c.(226-228)ACA>ACTTTGGATACA p.76_76T>TLDT RIT1_uc010pgr.1_In_Frame_Ins_p.40_40T>TLDT NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 76 GTP (By similarity). nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CCTGTCCAGCTGTATCCAAAAT 0.401 NA 14 76 --- --- --- --- NA NA NA NA NA RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:70156583delT uc001job.2 - 4 784 c.457delA c.(457-459)ATGfs p.M153fs RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 167 RUN. nucleus metal ion binding ovary(1) 1 TAATCGGCCATTTTTTTTTGC 0.398 NA 8 86 --- --- --- --- NA NA NA NA NA LOC653544 653544 broad.mit.edu 37 10 135491036 135491036 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:135491036delG uc010qvi.1 + 1 758 c.647delG c.(646-648)AGGfs p.R216fs NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGGGTGGCAGGGCGCCCGCG 0.736 NA 7 269 --- --- --- --- NA NA NA NA NA ZDHHC13 54503 broad.mit.edu 37 11 19184974 19184974 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:19184974delG uc001mpi.2 + 11 1338 c.1233delG c.(1231-1233)GTGfs p.V411fs ZDHHC13_uc001mpj.2_Frame_Shift_Del_p.V281fs NM_019028 NP_061901 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC domain containing 13 isoform 411 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding 0 AAAAGAAAGTGGTGAGATTTC 0.358 NA 15 31 --- --- --- --- NA NA NA NA NA CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:125505377_125505378insA uc009zbo.2 + 7 1559_1560 c.667_668insA c.(667-669)GAAfs p.E223fs CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 NA Other_conserved_DNA_damage_response_genes 7 134 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 12 31270080 31270081 + In_Frame_Ins INS - - AAA rs112314315 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:31270080_31270081insAAA uc010sjy.1 - 28 3788_3789 c.3788_3789insTTT c.(3787-3789)ATC>ATTTTC p.1263_1264insF uc001rjy.2_Intron|uc001rjz.2_Intron RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA CGTTAAACTGGATCTCACTGGA 0.505 NA 8 20 --- --- --- --- NA NA NA NA NA SLITRK5 26050 broad.mit.edu 37 13 88328297 88328297 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr13:88328297delG uc001vln.2 + 2 873 c.654delG c.(652-654)GTGfs p.V218fs SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 218 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGCCCTACGTGGGGCTCTTGC 0.483 NA 36 58 --- --- --- --- NA NA NA NA NA JPH4 84502 broad.mit.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C rs144738828 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:24040435_24040436insC uc001wkq.2 - 6 2422_2423 c.1504_1505insG c.(1504-1506)GCAfs p.A502fs JPH4_uc010tnr.1_Frame_Shift_Ins_p.A167fs|JPH4_uc001wkr.2_Frame_Shift_Ins_p.A502fs NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 502 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane p.A502fs*12(1) ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CTGTGCGCCTGCCCCCCCCCAC 0.688 NA 8 179 --- --- --- --- NA NA NA NA NA KBTBD10 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:170366496delA uc002ueu.1 + 1 285 c.208delA c.(208-210)AAAfs p.K70fs KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 70 BTB. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TGATGAGGCGAAAAAAAAGGA 0.388 NA 8 135 --- --- --- --- NA NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 TCG TCG - - TCG TCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 7 105 --- --- --- --- NA NA NA NA NA ATR 545 broad.mit.edu 37 3 142274739 142274740 + Frame_Shift_Ins INS - - T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr3:142274739_142274740insT uc003eux.3 - 10 2442_2443 c.2320_2321insA c.(2320-2322)ATAfs p.I774fs NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 774 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TGGACTAGGTATTTTTTTTTTC 0.332 NA Other_conserved_DNA_damage_response_genes 10 128 --- --- --- --- NA NA NA NA NA UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:39515752_39515753insA uc003guk.1 - 3 530_531 c.214_215insT c.(214-216)TCTfs p.S72fs UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 NA 8 196 --- --- --- --- NA NA NA NA NA HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:29694802_29694803insT uc003nno.3 + 7 1303_1304 c.1179_1180insT c.(1177-1182)TTGTTTfs p.L393fs HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TGTGGATCTTGTTTTTTTTGTG 0.535 NA 10 346 --- --- --- --- NA NA NA NA NA ABCF1 23 broad.mit.edu 37 6 30545854 30545854 + Frame_Shift_Del DEL A A - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:30545854delA uc003nql.2 + 4 313 c.218delA c.(217-219)CAAfs p.Q73fs ABCF1_uc003nqk.2_Frame_Shift_Del_p.Q74fs|ABCF1_uc003nqm.2_Frame_Shift_Del_p.Q73fs|ABCF1_uc010jsb.2_Frame_Shift_Del_p.Q73fs NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 73 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 TCTCAGCAGCAAAAAAAAAAG 0.493 NA 10 82 --- --- --- --- NA NA NA NA NA KCND2 3751 broad.mit.edu 37 7 120385968 120385969 + Frame_Shift_Ins INS - - A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:120385968_120385969insA uc003vjj.1 + 5 2567_2568 c.1602_1603insA c.(1600-1605)CACAAAfs p.H534fs NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 534_535 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CACGACGACACAAAAAAACTTT 0.45 NA 11 119 --- --- --- --- NA NA NA NA NA ARMCX3 51566 broad.mit.edu 37 X 100880216 100880216 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:100880216delG uc004ehz.1 + 5 780 c.247delG c.(247-249)GGGfs p.G83fs ARMCX3_uc004eia.1_Frame_Shift_Del_p.G83fs|ARMCX3_uc004eib.1_Frame_Shift_Del_p.G83fs|ARMCX3_uc004eic.1_Frame_Shift_Del_p.G83fs NM_016607 NP_057691 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 83 integral to membrane binding ovary(1)|lung(1) 2 GGCTCGGATTGGGACTGAAGC 0.458 NA 25 157 --- --- --- --- NA NA NA NA NA