Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ASAP3 55616 broad.mit.edu 37 1 23759729 23759729 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:23759729C>T uc001bha.2 - 22 2288 c.2164G>A c.(2164-2166)GCC>ACC p.A722T ASAP3_uc001bgy.1_Missense_Mutation_p.A226T|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.A612T|ASAP3_uc010oea.1_Missense_Mutation_p.A713T|ASAP3_uc001bhb.2_Missense_Mutation_p.A245T NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 722 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CTCCCACTGGCCCAGTGAGCC 0.642 NA 39 148 0 0 0 0 ASAP3 55616 broad.mit.edu 37 1 23763755 23763755 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:23763755C>T uc001bha.2 - 14 1334 c.1210G>A c.(1210-1212)GAG>AAG p.E404K ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.E273K|ASAP3_uc010oea.1_Missense_Mutation_p.E395K|ASAP3_uc001bhb.2_5'UTR NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 404 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 GCGCTGGGCTCCCCGAGGAAG 0.662 NA 5 15 0 0 0 0 HECTD3 79654 broad.mit.edu 37 1 45475780 45475780 + Missense_Mutation SNP T T C TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:45475780T>C uc009vxk.2 - 4 735 c.637A>G c.(637-639)ACA>GCA p.T213A HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Intron|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank|UROD_uc010olj.1_5'Flank|UROD_uc001cnc.1_5'Flank NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 213 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) TAGGTCCATGTCGGGGGTACA 0.567 NA 21 85 0 0 0 0 CCDC17 149483 broad.mit.edu 37 1 46087966 46087966 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:46087966C>T uc010olt.1 - 7 1062 c.914G>A c.(913-915)CGC>CAC p.R305H CCDC17_uc009vxy.2_Missense_Mutation_p.R273H|CCDC17_uc010ols.1_Missense_Mutation_p.R296H|CCDC17_uc001com.3_Missense_Mutation_p.R126H|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 305 Potential. ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGCCTCCAAGCGCCGGTTTTC 0.582 NA 10 25 0 0 0 0 RBM15 64783 broad.mit.edu 37 1 110882129 110882129 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:110882129C>T uc001dzl.1 + 1 185 c.102C>T c.(100-102)CTC>CTT p.L34L RBM15_uc001dzm.1_Silent_p.L34L|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 34 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TTACTCAGCTCCGCGGAGACG 0.677 NA T MKL1 acute megakaryocytic leukemia 14 36 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114092242 114092242 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:114092242G>A uc001edk.2 + 2 603 c.422G>A c.(421-423)AGA>AAA p.R141K MAGI3_uc001edh.3_Missense_Mutation_p.R141K|MAGI3_uc001edi.3_Missense_Mutation_p.R141K|MAGI3_uc010owm.1_Missense_Mutation_p.R141K NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 141 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCTACTTGAGAACCATTCCA 0.338 NA 4 78 0 0 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473666 145473666 + Missense_Mutation SNP C C G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:145473666C>G uc001enq.1 + 4 1631 c.338C>G c.(337-339)TCG>TGG p.S113W NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 113 ANK 4. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGGGCGCCTCGGCTCTTGTC 0.711 NA 15 42 0 0 0 0 CRNN 49860 broad.mit.edu 37 1 152382225 152382225 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:152382225C>T uc001ezx.2 - 3 1407 c.1333G>A c.(1333-1335)GAC>AAC p.D445N NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 445 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGAGTGGTCATCAACCCAT 0.577 NA 25 87 0 0 0 0 CD1A 909 broad.mit.edu 37 1 158226066 158226066 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:158226066C>T uc001frt.2 + 3 1131 c.598C>T c.(598-600)CGG>TGG p.R200W NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 200 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACATCTCCAGCGGCAAGGTCA 0.463 NA 8 123 0 0 0 0 FCRLB 127943 broad.mit.edu 37 1 161692465 161692465 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:161692465G>A uc001gbh.2 + 3 237 c.3G>A c.(1-3)ATG>ATA p.M1I FCRLB_uc009wus.2_Missense_Mutation_p.M1I|FCRLB_uc001gbj.2_Missense_Mutation_p.M1I|FCRLB_uc001gbk.2_Missense_Mutation_p.M1I|FCRLB_uc001gbl.2_Missense_Mutation_p.M1I|FCRLB_uc001gbm.2_Missense_Mutation_p.M1I|FCRLB_uc001gbi.2_Missense_Mutation_p.M1I NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 1 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GATCCATCATGTGGCCACTGA 0.557 NA 84 250 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200950187 200950187 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:200950187G>A uc001gvs.1 - 29 4197 c.3880C>T c.(3880-3882)CGG>TGG p.R1294W KIF21B_uc001gvr.1_Missense_Mutation_p.R1281W|KIF21B_uc009wzl.1_Missense_Mutation_p.R1294W|KIF21B_uc010ppn.1_Missense_Mutation_p.R1281W NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1294 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GGGGCCGTCCGTGCACCCTTG 0.622 NA 52 64 0 0 0 0 GPATCH2 55105 broad.mit.edu 37 1 217665079 217665079 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:217665079C>T uc001hlf.1 - 8 1316 c.1220G>A c.(1219-1221)AGA>AAA p.R407K GPATCH2_uc009xdq.1_RNA NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 407 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TCGATTATCTCTCAGAAGCTG 0.313 NA 16 84 0 0 0 0 PCNXL2 80003 broad.mit.edu 37 1 233270852 233270852 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:233270852C>T uc001hvl.2 - 21 3979 c.3744G>A c.(3742-3744)TTG>TTA p.L1248L PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1248 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CAGTGAAGCTCAAGTTAATAA 0.398 NA 13 50 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237895442 237895442 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr1:237895442G>A uc001hyl.1 + 78 11152 c.11032G>A c.(11032-11034)GAG>AAG p.E3678K RYR2_uc010pya.1_Missense_Mutation_p.E74K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3678 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCTTTAACAGAGAAATGGTA 0.453 NA 11 74 0 0 0 0 OIT3 170392 broad.mit.edu 37 10 74673159 74673159 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr10:74673159G>A uc001jte.1 + 6 1102 c.884G>A c.(883-885)CGA>CAA p.R295Q OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 295 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) ACCTCCTGCCGAGGAGTGTCC 0.542 NA 62 149 0 0 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116057015 116057015 + Silent SNP G G A rs150853765 byFrequency TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr10:116057015G>A uc001lbn.2 - 17 2572 c.2271C>T c.(2269-2271)ACC>ACT p.T757T AFAP1L2_uc001lbo.2_Silent_p.T757T|AFAP1L2_uc010qse.1_Silent_p.T810T|AFAP1L2_uc001lbp.2_Silent_p.T785T|AFAP1L2_uc001lbm.2_Silent_p.T196T|AFAP1L2_uc010qsd.1_Silent_p.T323T|AFAP1L2_uc001lbq.1_Silent_p.T279T NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 757 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TGGTGTCCACGGTGGTGCCTA 0.652 NA 18 52 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17426127 17426127 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:17426127G>A uc001mnc.2 - 28 3615 c.3489C>T c.(3487-3489)TTC>TTT p.F1163F NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1163 Helical; Name=15; (By similarity).|ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGGCCACGAGGAACACAGGTG 0.627 NA 17 96 0 0 0 0 ASRGL1 80150 broad.mit.edu 37 11 62159699 62159699 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:62159699C>T uc001nte.3 + 7 1154 c.870C>T c.(868-870)GAC>GAT p.D290D ASRGL1_uc001ntf.3_Silent_p.D290D|ASRGL1_uc001ntg.3_Silent_p.D162D NM_025080 NP_079356 Q7L266 ASGL1_HUMAN asparaginase-like 1 290 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) CCGCCAAGGACGGCAAGCTGC 0.532 NA OREG0021023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 84 0 0 0 0 PLCB3 5331 broad.mit.edu 37 11 64033385 64033385 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:64033385G>A uc001nzb.2 + 26 3063 c.3063G>A c.(3061-3063)ACG>ACA p.T1021T PLCB3_uc009ypg.1_Silent_p.T1021T|PLCB3_uc009yph.1_Silent_p.T954T|PLCB3_uc009ypi.2_Silent_p.T1021T NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1021 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 TGGAGGACACGAAGGAGGGGG 0.662 NA 21 29 0 0 0 0 CTTN 2017 broad.mit.edu 37 11 70260656 70260656 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:70260656C>T uc001opv.3 + 6 506 c.300C>T c.(298-300)GTC>GTT p.V100V CTTN_uc001opu.2_Silent_p.V100V|CTTN_uc001opw.3_Silent_p.V100V NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 100 Cortactin 1. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) AGTCAGCTGTCGGCCACGAAT 0.557 NA 17 89 0 0 0 0 PDE2A 5138 broad.mit.edu 37 11 72292993 72292993 + Splice_Site SNP T T C TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:72292993T>C uc010rrc.1 - 22 2095 c.1852_splice c.e22-1 p.A618_splice PDE2A_uc001oso.2_Splice_Site_p.A597_splice|PDE2A_uc010rra.1_Splice_Site_p.A611_splice|PDE2A_uc001osn.2_Splice_Site_p.A362_splice|PDE2A_uc010rrb.1_Splice_Site_p.A609_splice|PDE2A_uc010rrd.1_Splice_Site_p.A503_splice NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CAGGATGGCCTGGAGAGGGCA 0.567 NA 3 65 0 0 0 0 DLAT 1737 broad.mit.edu 37 11 111916646 111916646 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr11:111916646C>T uc001pmo.2 + 10 2009 c.1350C>T c.(1348-1350)ATC>ATT p.I450I DLAT_uc009yyk.1_Silent_p.I345I|DLAT_uc010rwr.1_Silent_p.I323I NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 450 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) ACCTTTCTATCGATGTAAATA 0.299 NA 10 54 0 0 0 0 IFFO1 25900 broad.mit.edu 37 12 6665033 6665033 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr12:6665033C>T uc001qpd.1 - 1 197 c.163G>A c.(163-165)GGG>AGG p.G55R IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.G55R|IFFO1_uc001qpf.1_Missense_Mutation_p.G55R|IFFO1_uc001qpc.1_Missense_Mutation_p.G55R NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 55 intermediate filament 0 gggcccggcccgggcggcgAG 0.587 NA 4 64 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12315147 12315147 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr12:12315147G>A uc001rah.3 - 10 2401 c.2259C>T c.(2257-2259)CTC>CTT p.L753L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.L753L NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 753 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 12. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GGTCCAACGCGAGAGCTCTGG 0.478 NA 13 199 0 0 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266897 85266897 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr12:85266897C>T uc001szv.2 - 7 1571 c.1078G>A c.(1078-1080)GCA>ACA p.A360T SLC6A15_uc010sul.1_Missense_Mutation_p.A253T|SLC6A15_uc001szw.1_Missense_Mutation_p.A68T NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 360 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ATGACATTTGCTTTGAAGCCC 0.333 NA 13 72 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101480443 101480443 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr12:101480443C>T uc010svm.1 + 17 2114 c.1542C>T c.(1540-1542)TGC>TGT p.C514C ANO4_uc001thw.2_Silent_p.C479C|ANO4_uc001thx.2_Silent_p.C514C|ANO4_uc001thy.2_Silent_p.C34C NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 514 Helical; (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GCCAGATCTGCGTGGTGATTG 0.507 NA HNSCC(74;0.22) 9 672 0 0 0 0 TXNRD1 7296 broad.mit.edu 37 12 104719127 104719127 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr12:104719127G>A uc010swk.1 + 11 1250 c.1228G>A c.(1228-1230)GAA>AAA p.E410K TXNRD1_uc010swl.1_Missense_Mutation_p.E260K|TXNRD1_uc010swm.1_Missense_Mutation_p.E312K|TXNRD1_uc010swn.1_Missense_Mutation_p.E260K|TXNRD1_uc010swo.1_Missense_Mutation_p.E260K|TXNRD1_uc010swp.1_Missense_Mutation_p.E222K|TXNRD1_uc010swq.1_Missense_Mutation_p.E310K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E326K NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 410 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TGAACAAATTGAAGCAGGGAC 0.418 NA 5 23 0 0 0 0 TBPL2 387332 broad.mit.edu 37 14 55903726 55903726 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr14:55903726G>A uc001xby.2 - 2 161 c.161C>T c.(160-162)GCC>GTC p.A54V NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 54 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 CCTGGGTGGGGCAAGGCCATC 0.483 NA 4 202 0 0 0 0 MTMR10 54893 broad.mit.edu 37 15 31234209 31234209 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr15:31234209C>T uc001zfh.1 - 16 1896 c.1798G>A c.(1798-1800)GAA>AAA p.E600K MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.E14K|MTMR10_uc001zfg.1_Missense_Mutation_p.E181K|MTMR10_uc010azx.1_Missense_Mutation_p.E352K|MTMR10_uc001zfi.1_3'UTR NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 600 Myotubularin phosphatase. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) GGAAGTAATTCTTGGTCACTG 0.408 NA 9 320 0 0 0 0 MFGE8 4240 broad.mit.edu 37 15 89450552 89450552 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr15:89450552G>A uc002bng.3 - 3 374 c.261C>T c.(259-261)GCC>GCT p.A87A MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Silent_p.A87A|MFGE8_uc010bnn.2_Silent_p.A79A|MFGE8_uc010upq.1_Silent_p.A43A|MFGE8_uc010upr.1_Silent_p.A87A|MFGE8_uc010bno.2_Silent_p.A43A NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 87 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) CAGACGAGGCGGCGATCTGTG 0.617 NA 23 38 0 0 0 0 PPL 5493 broad.mit.edu 37 16 4947769 4947769 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr16:4947769C>T uc002cyd.1 - 9 969 c.879G>A c.(877-879)GCG>GCA p.A293A NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 293 Potential.|Spectrin 1. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CCTCCATGTGCGCCTGCCAGG 0.612 NA 3 28 0 0 0 0 BCKDK 10295 broad.mit.edu 37 16 31122691 31122691 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr16:31122691G>A uc002eaw.3 + 10 1232 c.916G>A c.(916-918)GAT>AAT p.D306N BCKDK_uc002eav.3_Missense_Mutation_p.D306N|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Intron NM_005881 NP_005872 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 306 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity stomach(1)|breast(1) 2 CGCCAACAATGATGTCGATCT 0.507 NA 17 68 0 0 0 0 KIAA0664 23277 broad.mit.edu 37 17 2604101 2604101 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:2604101G>A uc002fuy.1 - 8 1016 c.930C>T c.(928-930)TTC>TTT p.F310F KIAA0664_uc002fux.1_Silent_p.F242F NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 310 binding breast(2) 2 CGATCCTCTCGAACGGGTGGC 0.682 NA 16 42 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10558189 10558189 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:10558189C>T uc002gmq.1 - 2 270 c.193G>A c.(193-195)GAG>AAG p.E65K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 65 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTGTTGTCCTCAGTTTCCACA 0.537 NA 84 300 0 0 0 0 AKAP10 11216 broad.mit.edu 37 17 19835244 19835244 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:19835244C>T uc002gwo.2 - 10 1652 c.1515G>A c.(1513-1515)TTG>TTA p.L505L AKAP10_uc002gwp.1_Silent_p.L505L|AKAP10_uc010cqw.1_Intron NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 505 RGS 2. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TGAGATCATTCAAATATTTAT 0.418 NA 15 107 0 0 0 0 FOXN1 8456 broad.mit.edu 37 17 26851658 26851658 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:26851658C>T uc010crm.2 + 3 459 c.261C>T c.(259-261)GGC>GGT p.G87G FOXN1_uc002hbj.2_Silent_p.G87G NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 87 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CCGGCCCCGGCCCTGGGCCCT 0.682 NA 18 93 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36491542 36491542 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:36491542G>A uc002hpz.2 - 6 1359 c.1338C>T c.(1336-1338)ATC>ATT p.I446I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 446 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGCGAAGAGCGATGCAGCGGA 0.443 NA 15 63 0 0 0 0 GSDMA 284110 broad.mit.edu 37 17 38133088 38133088 + Missense_Mutation SNP A A G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:38133088A>G uc002htl.1 + 12 1233 c.1115A>G c.(1114-1116)CAG>CGG p.Q372R GSDMA_uc002htm.1_Missense_Mutation_p.Q372R NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 372 apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 ACGATGGAACAGAACTTCCTG 0.517 NA 30 183 0 0 0 0 KRT39 390792 broad.mit.edu 37 17 39122694 39122694 + Silent SNP G G A rs144576097 byFrequency TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:39122694G>A uc002hvo.1 - 1 451 c.415C>T c.(415-417)CTA>TTA p.L139L KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 139 Linker 1.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) TCAGGACATAGAACAGGGAGC 0.423 NA 55 189 0 0 0 0 C17orf57 124989 broad.mit.edu 37 17 45473259 45473259 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:45473259G>A uc002iln.2 + 17 2272 c.1861G>A c.(1861-1863)GAC>AAC p.D621N C17orf57_uc002ilm.2_Missense_Mutation_p.D525N NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 621 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GAGTGTTTCTGACCTGTGGAA 0.373 NA 27 112 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67186544 67186544 + Nonsense_Mutation SNP C C A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:67186544C>A uc010dfa.1 - 19 2965 c.2086G>T c.(2086-2088)GAA>TAA p.E696* ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Nonsense_Mutation_p.E297* NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 696 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) AAGAATACTTCATTCAGAGAT 0.333 NA 19 98 3.52e-12 3.88e-12 1 0 KCNJ16 3773 broad.mit.edu 37 17 68129405 68129405 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:68129405G>A uc002jin.2 + 5 1663 c.1177G>A c.(1177-1179)GCC>ACC p.A393T KCNJ16_uc002jio.2_Missense_Mutation_p.A393T|KCNJ16_uc002jip.2_Missense_Mutation_p.A393T|KCNJ16_uc002jiq.2_Missense_Mutation_p.A425T NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 393 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CACCACTTCCGCCACACATGA 0.458 NA 23 107 0 0 0 0 FDXR 2232 broad.mit.edu 37 17 72862630 72862630 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:72862630C>T uc002jly.2 - 4 418 c.331G>A c.(331-333)GTG>ATG p.V111M FDXR_uc010wri.1_Missense_Mutation_p.V59M|FDXR_uc010wrj.1_Missense_Mutation_p.V109M|FDXR_uc002jlw.2_Translation_Start_Site|FDXR_uc002jlx.2_Missense_Mutation_p.V111M|FDXR_uc002jmc.2_Missense_Mutation_p.V112M|FDXR_uc010wrk.1_Missense_Mutation_p.V142M|FDXR_uc010wrl.1_Missense_Mutation_p.V154M|FDXR_uc002jma.2_Missense_Mutation_p.V112M|FDXR_uc010wrm.1_Intron|FDXR_uc002jlz.2_Missense_Mutation_p.V103M|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 111 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) CCCACCTCCACGTTGCCCCAG 0.652 NA 18 44 0 0 0 0 PGS1 9489 broad.mit.edu 37 17 76388715 76388715 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr17:76388715C>T uc002jvm.2 + 2 314 c.302C>T c.(301-303)TCT>TTT p.S101F PGS1_uc010wtt.1_RNA NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 101 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) AGGGTGCTTTCTTCCCCGGCA 0.502 NA 27 141 0 0 0 0 MAPK4 5596 broad.mit.edu 37 18 48190638 48190638 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr18:48190638G>A uc002lev.2 + 2 1310 c.310G>A c.(310-312)GTC>ATC p.V104I MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.V104I NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 104 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) GGCGTACATCGTCCAGGAGTA 0.612 NA 26 105 0 0 0 0 SALL3 27164 broad.mit.edu 37 18 76753935 76753935 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr18:76753935G>A uc002lmt.2 + 2 1944 c.1944G>A c.(1942-1944)CCG>CCA p.P648P SALL3_uc010dra.2_Silent_p.P255P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCAGTTTCCGTTCGGGGGGC 0.652 NA 3 15 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77246917 77246917 + Missense_Mutation SNP A A G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr18:77246917A>G uc010xfg.1 + 9 3215 c.2762A>G c.(2761-2763)GAC>GGC p.D921G NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.D449G|NFATC1_uc002lnf.2_Missense_Mutation_p.D908G|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 921 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAAGAGTTGGACCAGTTGTAC 0.637 NA 3 122 0 0 0 0 ABCA7 10347 broad.mit.edu 37 19 1058700 1058700 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:1058700C>T uc002lqw.3 + 38 5464 c.5233C>T c.(5233-5235)CTT>TTT p.L1745F ABCA7_uc002lqy.2_Missense_Mutation_p.L198F|ABCA7_uc010dsc.2_RNA NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1745 Helical; (Potential). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCCTCTTCCTTCTCTTCAC 0.572 NA 31 189 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9065980 9065980 + Missense_Mutation SNP T T C TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:9065980T>C uc002mkp.2 - 3 21670 c.21466A>G c.(21466-21468)AGC>GGC p.S7156G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7158 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAGTGTGGCTCAGCTTTGGA 0.502 NA 32 139 0 0 0 0 C19orf66 55337 broad.mit.edu 37 19 10202783 10202783 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:10202783G>A uc002mmu.3 + 8 979 c.681G>A c.(679-681)AAG>AAA p.K227K C19orf66_uc002mmv.3_Silent_p.K191K|C19orf66_uc002mmw.3_Silent_p.K176K NM_018381 NP_060851 Q9NUL5 CS066_HUMAN hypothetical protein LOC55337 227 0 CTCACCCCAAGAGCCGGAAGC 0.642 NA 29 139 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19654523 19654523 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:19654523G>A uc002nmv.3 + 8 1254 c.1169G>A c.(1168-1170)CGA>CAA p.R390Q CILP2_uc002nmw.3_Missense_Mutation_p.R396Q NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 390 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CCCCGGCCCCGAGAGTACCTG 0.662 NA 125 491 0 0 0 0 DHX34 9704 broad.mit.edu 37 19 47856613 47856613 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:47856613C>T uc010xyn.1 + 2 667 c.326C>T c.(325-327)TCT>TTT p.S109F DHX34_uc010elc.1_Missense_Mutation_p.S109F NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 109 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ATCAACCTCTCTGTTCTTGGC 0.637 NA 52 282 0 0 0 0 VRK3 51231 broad.mit.edu 37 19 50482394 50482394 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:50482394C>T uc002prg.2 - 14 1480 c.1382G>A c.(1381-1383)CGT>CAT p.R461H VRK3_uc002prh.1_Missense_Mutation_p.R461H|VRK3_uc002pri.1_Missense_Mutation_p.R411H|VRK3_uc010ens.2_Missense_Mutation_p.R461H|VRK3_uc010ybl.1_Missense_Mutation_p.R411H|VRK3_uc010ybm.1_Missense_Mutation_p.R230H NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 461 nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TGGAGACACACGCAGATCCTG 0.572 NA 53 113 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 5 19 1.24e-05 1.33e-05 1 0 ACOXL 55289 broad.mit.edu 37 2 111666365 111666365 + Splice_Site SNP G G A rs2974746 TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr2:111666365G>A uc002tgr.3 + 11 1013 c.789_splice c.e11-1 p.S263_splice ACOXL_uc010fkc.2_Splice_Site_p.S263_splice|ACOXL_uc010yxk.1_Splice_Site_p.S263_splice NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ATTCCCTCTAGCCGGAGGCAG 0.522 NA 23 79 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167162315 167162315 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr2:167162315C>T uc010fpl.2 - 5 924 c.583G>A c.(583-585)GTC>ATC p.V195I SCN9A_uc002udr.1_Missense_Mutation_p.V66I|SCN9A_uc002uds.1_Missense_Mutation_p.V66I|SCN9A_uc002udt.1_Missense_Mutation_p.V66I NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 195 Helical; Name=S3 of repeat I; (Potential).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity p.V195I(1) ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) AAAACAATGACGACAAAATCC 0.398 NA 13 44 0 0 0 0 HOXD3 3232 broad.mit.edu 37 2 177033995 177033995 + Silent SNP A A C rs141168805 byFrequency TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr2:177033995A>C uc002ukt.1 + 2 329 c.153A>C c.(151-153)CCA>CCC p.P51P NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 51 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) AGCCCTACCCACCCCCTGCTG 0.587 NA 8 101 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179582457 179582457 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr2:179582457G>A uc010zfg.1 - 84 21636 c.21412C>T c.(21412-21414)CGC>TGC p.R7138C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3799C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8065 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) CCATTGATGCGGCATTCAAAT 0.413 NA 6 46 0 0 0 0 ATG16L1 55054 broad.mit.edu 37 2 234171780 234171780 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr2:234171780G>A uc002vty.2 + 3 471 c.214G>A c.(214-216)GGA>AGA p.G72R ATG16L1_uc002vtx.1_Intron|ATG16L1_uc002vua.2_Missense_Mutation_p.G72R|ATG16L1_uc002vub.2_5'UTR|ATG16L1_uc002vtz.2_Intron|ATG16L1_uc002vud.3_5'UTR NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 72 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) ATTTAGTCCCGGACATGATGG 0.438 NA 7 31 0 0 0 0 SNRPB 6628 broad.mit.edu 37 20 2443804 2443804 + Missense_Mutation SNP C C A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr20:2443804C>A uc002wfz.1 - 5 653 c.490G>T c.(490-492)GCT>TCT p.A164S SNRPB_uc002wga.1_Missense_Mutation_p.A164S|SNRPB_uc010zpv.1_Missense_Mutation_p.A85S|SNRPB_uc002wgb.2_Missense_Mutation_p.A164S|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 164 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 TGGGTTGGAGCCCCGGCAATA 0.592 NA 66 154 1.6e-33 1.77e-33 1 0 RPN2 6185 broad.mit.edu 37 20 35827572 35827572 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr20:35827572C>T uc002xgp.2 + 4 727 c.423C>T c.(421-423)TCC>TCT p.S141S RPN2_uc002xgo.3_Silent_p.S141S|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Silent_p.S109S NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 141 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CCTTGGCATCCCAAGAAGCAC 0.527 NA 11 254 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57428501 57428501 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr20:57428501G>A uc002xzw.2 + 1 466 c.181G>A c.(181-183)GTC>ATC p.V61I GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCCCATCCCCGTCGAGAATGA 0.642 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 10 39 0 0 0 0 SIK1 150094 broad.mit.edu 37 21 44841623 44841623 + Missense_Mutation SNP G G T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr21:44841623G>T uc002zdf.2 - 5 521 c.394C>A c.(394-396)CAA>AAA p.Q132K NM_173354 NP_775490 P57059 SIK1_HUMAN salt-inducible kinase 1 132 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1) 7 GACAGGATTTGCCAGAACTTC 0.552 NA 15 36 2.32e-09 2.55e-09 1 0 GRAMD4 23151 broad.mit.edu 37 22 47062766 47062766 + Missense_Mutation SNP C C G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr22:47062766C>G uc003bhx.2 + 9 893 c.854C>G c.(853-855)CCC>CGC p.P285R GRAMD4_uc010had.2_Missense_Mutation_p.P224R NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 285 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GTGTCTGAGCCCGTGGTAAGT 0.617 NA 3 151 0 0 0 0 ACR 49 broad.mit.edu 37 22 51183225 51183225 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr22:51183225G>A uc003bnh.3 + 5 868 c.856G>A c.(856-858)GCC>ACC p.A286T NM_001097 NP_001088 P10323 ACRO_HUMAN acrosin precursor 286 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) GAACTGGATCGCCTCCAAGAT 0.622 NA 9 12 0 0 0 0 SCN5A 6331 broad.mit.edu 37 3 38647495 38647495 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr3:38647495C>T uc003cio.2 - 10 1479 c.1285G>A c.(1285-1287)GAG>AAG p.E429K SCN5A_uc003cin.2_Missense_Mutation_p.E429K|SCN5A_uc003cil.3_Missense_Mutation_p.E429K|SCN5A_uc010hhi.2_Missense_Mutation_p.E429K|SCN5A_uc010hhk.2_Missense_Mutation_p.E429K|SCN5A_uc011ayr.1_Missense_Mutation_p.E429K|SCN5A_uc010hhj.1_Missense_Mutation_p.E40K NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 429 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTTTCCTTCTCCTCGGTCTCA 0.567 NA 4 143 0 0 0 0 RHO 6010 broad.mit.edu 37 3 129251103 129251103 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr3:129251103C>T uc003emt.2 + 3 635 c.540C>T c.(538-540)CCC>CCT p.P180P NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 180 Extracellular. protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) GGTACATCCCCGAGGGCCTGC 0.587 NA 14 90 0 0 0 0 GHSR 2693 broad.mit.edu 37 3 172165615 172165615 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr3:172165615C>T uc003fib.1 - 1 589 c.589G>A c.(589-591)GAG>AAG p.E197K GHSR_uc011bpv.1_Missense_Mutation_p.E197K NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 197 Extracellular (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GGGCGGCACTCGTTGGTGTCC 0.622 NA 17 76 0 0 0 0 WDR53 348793 broad.mit.edu 37 3 196288329 196288329 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr3:196288329C>T uc003fwt.2 - 3 489 c.18G>A c.(16-18)ACG>ACA p.T6T NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 6 breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) AATGCCCACCCGTCCACTTGA 0.522 NA 15 89 0 0 0 0 BMP2K 55589 broad.mit.edu 37 4 79792071 79792071 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr4:79792071C>T uc003hlk.2 + 11 1532 c.1366C>T c.(1366-1368)CGT>TGT p.R456C BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.R456C|BMP2K_uc003hll.2_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 456 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 TTTACAGCATCGTCATCCTCA 0.294 NA 4 35 0 0 0 0 FRG1 2483 broad.mit.edu 37 4 190878594 190878594 + Missense_Mutation SNP A A T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr4:190878594A>T uc003izs.2 + 6 665 c.474A>T c.(472-474)AGA>AGT p.R158S NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 158 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTTTATTAGATGCAATGAAG 0.368 NA 4 46 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41008798 41008798 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:41008798G>A uc003jmj.3 - 33 4008 c.3518C>T c.(3517-3519)ACA>ATA p.T1173I HEATR7B2_uc003jmi.3_Missense_Mutation_p.T728I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1173 HEAT 13. binding ovary(6)|central_nervous_system(2) 8 CTGGCCCAGTGTGCAGCTAAC 0.567 NA 25 55 0 0 0 0 PRR16 51334 broad.mit.edu 37 5 120021719 120021719 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:120021719C>T uc003ksq.2 + 2 393 c.230C>T c.(229-231)ACG>ATG p.T77M PRR16_uc003ksp.2_Missense_Mutation_p.T54M|PRR16_uc003ksr.2_Missense_Mutation_p.T7M NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 77 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AGCTCCAAAACGGACACGCTG 0.502 NA 30 85 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248820 140248820 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:140248820C>T uc003lia.2 + 1 990 c.132C>T c.(130-132)TTC>TTT p.F44F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.F44F NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 44 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.652 NA 47 138 0 0 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347507 140347507 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:140347507G>A uc003lii.2 + 1 1396 c.1156G>A c.(1156-1158)GTT>ATT p.V386I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V386I NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 386 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTGTGGCCGTTCTCAGTGT 0.557 NA 4 139 0 0 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595079 140595079 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:140595079G>A uc003lja.1 + 1 1571 c.1384G>A c.(1384-1386)GAG>AAG p.E462K NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 462 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTCCGCGAGAACAACAG 0.602 NA 27 186 0 0 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731948 140731948 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr5:140731948C>T uc003ljo.1 + 1 2121 c.2121C>T c.(2119-2121)ATC>ATT p.I707I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Silent_p.I707I|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 707 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTAGCGATCGCCCTGCGCC 0.617 NA 61 214 0 0 0 0 BTNL2 56244 broad.mit.edu 37 6 32372831 32372831 + Missense_Mutation SNP C C G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr6:32372831C>G uc003obg.1 - 2 312 c.312G>C c.(310-312)AAG>AAC p.K104N BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 104 Ig-like V-type 1.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CCACATTTCCCTTTGCAATGC 0.507 NA 55 95 0 0 0 0 FUCA2 2519 broad.mit.edu 37 6 143825112 143825112 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr6:143825112G>A uc003qjm.2 - 3 782 c.690C>T c.(688-690)GAC>GAT p.D230D FUCA2_uc003qjn.2_5'Flank NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 230 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) GTGCTCCTCCGTCACCATCCG 0.463 NA 15 35 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 145069596 145069596 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr6:145069596G>A uc003qkt.2 + 54 8246 c.8154G>A c.(8152-8154)AAG>AAA p.K2718K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2718 Spectrin 20. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATGGCTGGAAGCCCGTGGGAG 0.473 NA 3 60 0 0 0 0 THBS2 7058 broad.mit.edu 37 6 169648954 169648954 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr6:169648954C>T uc003qwt.2 - 4 415 c.167G>A c.(166-168)CGC>CAC p.R56H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 56 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCGCACGAAGCGGTAAGCCGG 0.587 NA 14 31 0 0 0 0 FBXL18 80028 broad.mit.edu 37 7 5521496 5521496 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr7:5521496G>A uc003son.3 - 5 2161 c.2067C>T c.(2065-2067)GAC>GAT p.D689D NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 Error:Variant_position_missing_in_Q96ME1_after_alignment central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CCCGGATGACGTCGGTCAGGC 0.617 NA 64 161 0 0 0 0 CROT 54677 broad.mit.edu 37 7 87027901 87027901 + Nonsense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr7:87027901C>T uc003uit.2 + 18 2025 c.1780C>T c.(1780-1782)CAG>TAG p.Q594* CROT_uc003uiu.2_Nonsense_Mutation_p.Q622* NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 594 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AAAGCTAGTTCAGCTGACTTT 0.373 NA 20 70 0 0 0 0 ARF5 381 broad.mit.edu 37 7 127231136 127231136 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr7:127231136C>T uc003vmb.1 + 5 486 c.450C>T c.(448-450)AGC>AGT p.S150S FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 150 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 ACTTACGCAGCCGCACGGTAG 0.577 NA 13 192 0 0 0 0 DOCK5 80005 broad.mit.edu 37 8 25159858 25159858 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:25159858C>T uc003xeg.2 + 10 1001 c.864C>T c.(862-864)GAC>GAT p.D288D DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.D2D|DOCK5_uc003xef.2_Silent_p.D288D NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 288 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GCAGCATGGACCTCATCCGGC 0.557 NA 24 27 0 0 0 0 EPHX2 2053 broad.mit.edu 37 8 27398085 27398085 + Missense_Mutation SNP A A G TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:27398085A>G uc003xfu.2 + 15 1372 c.1291A>G c.(1291-1293)AAT>GAT p.N431D EPHX2_uc010luu.2_Missense_Mutation_p.N399D|EPHX2_uc010luv.2_Missense_Mutation_p.N365D|EPHX2_uc003xfv.2_Missense_Mutation_p.N378D|EPHX2_uc010luw.2_Missense_Mutation_p.N365D NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 431 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ACTTTTTGTAAATAGCCCAGA 0.502 NA 43 91 0 0 0 0 PAG1 55824 broad.mit.edu 37 8 81897445 81897445 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:81897445C>T uc003ybz.2 - 7 1153 c.442G>A c.(442-444)GCG>ACG p.A148T NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 148 Cytoplasmic (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ACACTTCTCGCCGTGAGCATG 0.577 NA 14 129 0 0 0 0 FBXO43 286151 broad.mit.edu 37 8 101153320 101153320 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:101153320G>A uc003yjd.2 - 2 1875 c.1162C>T c.(1162-1164)CGG>TGG p.R388W FBXO43_uc003yje.2_Missense_Mutation_p.R354W|FBXO43_uc010mbp.1_Missense_Mutation_p.R388W NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 388 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CTTTGTTCCCGAAGGGTGGAC 0.483 NA 61 281 0 0 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961145 143961145 + Missense_Mutation SNP C C T rs144224988 byFrequency TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:143961145C>T uc003yxi.2 - 1 92 c.85G>A c.(85-87)GCC>ACC p.A29T CYP11B1_uc003yxj.2_Missense_Mutation_p.A29T|CYP11B1_uc010mey.2_Missense_Mutation_p.A29T NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 29 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGGACCCGGGCGGCTCTCGTG 0.642 NA Familial_Hyperaldosteronism_type_I 42 218 0 0 0 0 ZNF623 9831 broad.mit.edu 37 8 144733541 144733541 + Missense_Mutation SNP C C A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr8:144733541C>A uc003yzd.2 + 1 1588 c.1499C>A c.(1498-1500)ACA>AAA p.T500K ZNF623_uc011lkp.1_Missense_Mutation_p.T460K|ZNF623_uc003yzc.2_Missense_Mutation_p.T460K NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AACTCAACTACAAACGTTAAA 0.413 NA 8 287 0.00307968 0.0032948 1 0 SVEP1 79987 broad.mit.edu 37 9 113168736 113168736 + Silent SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr9:113168736G>A uc010mtz.2 - 38 9481 c.9144C>T c.(9142-9144)GCC>GCT p.A3048A SVEP1_uc010mty.2_Silent_p.A974A NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3048 Sushi 27. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACTGGCCATCGGCTTCACAGG 0.498 NA 49 31 0 0 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516492 138516492 + Silent SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr9:138516492C>T uc010nbd.1 - 5 536 c.282G>A c.(280-282)CCG>CCA p.P94P NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 94 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) AGTGTAGGAACGGCCTCAGGT 0.393 NA 22 84 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412263 139412263 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr9:139412263C>T uc004chz.2 - 8 1382 c.1382G>A c.(1381-1383)TGC>TAC p.C461Y NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 461 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCGTTCTGGCACGGGTTCGA 0.652 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 52 27 0 0 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840150 27840150 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chrX:27840150G>A uc004dbw.2 + 3 954 c.727G>A c.(727-729)GAG>AAG p.E243K NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 243 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 CATGTTTGGGGAGCCCAGGAA 0.453 NA 6 54 0 0 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952550 16952550 + Missense_Mutation SNP C C T TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chrY:16952550C>T uc004ftg.2 + 6 2111 c.1859C>T c.(1858-1860)TCA>TTA p.S620L NLGN4Y_uc004fte.2_Missense_Mutation_p.S452L|NLGN4Y_uc011nas.1_Missense_Mutation_p.S640L|NLGN4Y_uc004ftf.2_Missense_Mutation_p.S313L|NLGN4Y_uc004fth.2_Missense_Mutation_p.S620L NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 620 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 GACATGACATCATTTCCCTAT 0.493 NA 30 33 0 0 0 0 RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 85fb5611-0dee-4a73-8aa1-1629ad929173 8785ede1-b3db-431b-b0dd-1b96a322cc2c g.chr19:46299165_46299167delCCT uc002pdm.2 - 6 2257_2259 c.2114_2116delAGG c.(2113-2118)GAGGGC>GGC p.E705del RSPH6A_uc002pdl.2_In_Frame_Del_p.E441del NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 705 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 tcctcctcgccctcctcctcctc 0.438 NA 8 432 --- --- --- --- NA NA NA NA