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 filter EXTL1 2134 broad.mit.edu 37 1 26360343 26360343 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:26360343C>G uc001blf.2 + 9 2542 c.1675C>G c.(1675-1677)CAT>GAT p.H559D NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 559 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CGCCTTCTACCATAGGTACAG 0.493 38 21 --- --- --- --- PASS THRAP3 9967 broad.mit.edu 37 1 36755344 36755344 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:36755344C>G uc001cae.3 + 5 1948 c.1724C>G c.(1723-1725)TCT>TGT p.S575C THRAP3_uc001caf.3_Missense_Mutation_p.S575C|THRAP3_uc001cag.1_Missense_Mutation_p.S575C NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 575 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGATGGACTCTTTTGATGAG 0.517 T USP6 aneurysmal bone cysts 59 46 --- --- --- --- PASS DMBX1 127343 broad.mit.edu 37 1 46976739 46976739 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:46976739C>A uc001cpx.2 + 3 496 c.481C>A c.(481-483)CAG>AAG p.Q161K DMBX1_uc001cpw.2_Missense_Mutation_p.Q156K NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 161 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCCAGATACCCAGCTGGACAC 0.637 55 52 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104120396 104120396 + Nonsense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:104120396T>A uc001duq.2 + 11 1891 c.1275T>A c.(1273-1275)TAT>TAA p.Y425* AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Nonsense_Mutation_p.Y425*|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 425 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CAAACTGGTATGATAATGGGA 0.338 35 217 --- --- --- --- PASS ACP6 51205 broad.mit.edu 37 1 147131642 147131642 + Splice_Site SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:147131642C>T uc001epr.2 - 3 813 c.349_splice c.e3-1 p.G117_splice ACP6_uc009wjj.1_Splice_Site_p.G74_splice NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) ACATGCCCCCCTAAAGTAGGG 0.507 38 49 --- --- --- --- PASS TCHH 7062 broad.mit.edu 37 1 152080826 152080826 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:152080826C>T uc001ezp.2 - 2 4867 c.4867G>A c.(4867-4869)GAA>AAA p.E1623K TCHH_uc009wne.1_Missense_Mutation_p.E1623K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1623 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTCGTCTTCGCGGAATTTT 0.597 10 189 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152325922 152325922 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:152325922T>C uc001ezw.3 - 3 4413 c.4340A>G c.(4339-4341)CAT>CGT p.H1447R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1447 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCTTGGCCATGAGTTTGTTC 0.522 262 434 --- --- --- --- PASS PYGO2 90780 broad.mit.edu 37 1 154931905 154931905 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:154931905C>A uc001fft.2 - 3 777 c.571G>T c.(571-573)GGT>TGT p.G191C NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 191 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATCATGGGACCAAATCCCCCC 0.592 20 119 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158590100 158590100 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:158590100C>A uc001fst.1 - 44 6476 c.6277G>T c.(6277-6279)GCT>TCT p.A2093S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2093 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGAGCCCTAGCCAGGGAGGCC 0.493 59 77 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158590101 158590101 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:158590101C>A uc001fst.1 - 44 6475 c.6276G>T c.(6274-6276)CTG>CTT p.L2092L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2092 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GAGCCCTAGCCAGGGAGGCCA 0.498 59 75 --- --- --- --- PASS NPHS2 7827 broad.mit.edu 37 1 179528818 179528818 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:179528818T>G uc001gmq.3 - 4 615 c.530A>C c.(529-531)CAT>CCT p.H177P NPHS2_uc009wxi.2_Missense_Mutation_p.H177P NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 177 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GCTTACCTCATGAAAAGGTAT 0.373 5 18 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183086559 183086559 + Silent SNP C A A rs150392886 by1000genomes TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:183086559C>A uc001gpy.3 + 9 1926 c.1669C>A c.(1669-1671)CGG>AGG p.R557R NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 557 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTACTTTCCTCGGTACTTCAT 0.517 3 76 --- --- --- --- PASS NR5A2 2494 broad.mit.edu 37 1 200017366 200017366 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:200017366C>A uc001gvb.2 + 5 736 c.530C>A c.(529-531)GCC>GAC p.A177D NR5A2_uc001gvc.2_Missense_Mutation_p.A131D|NR5A2_uc009wzh.2_Missense_Mutation_p.A137D|NR5A2_uc010pph.1_Missense_Mutation_p.A105D NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 177 FTZ-F1 box. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) AGAGACAGGGCCCTGAAGCAA 0.537 87 126 --- --- --- --- PASS PLEKHA6 22874 broad.mit.edu 37 1 204199696 204199696 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:204199696C>T uc001hau.2 - 18 2745 c.2428G>A c.(2428-2430)GTG>ATG p.V810M NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 810 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCAGGAAACACAGCACTCTTG 0.572 11 11 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243328002 243328002 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:243328002C>A uc001hzs.2 - 13 3668 c.3260G>T c.(3259-3261)AGT>ATT p.S1087I CEP170_uc001hzt.2_Missense_Mutation_p.S989I|CEP170_uc001hzu.2_Missense_Mutation_p.S989I|CEP170_uc001hzv.1_Missense_Mutation_p.S465I NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1087 Targeting to microtubules. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GGTTGATTTACTAGATGAACC 0.488 40 82 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247751962 247751962 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:247751962T>A uc010pyy.1 + 1 301 c.301T>A c.(301-303)TTG>ATG p.L101M NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGTGGCTGTTTGGTTCACCT 0.552 89 191 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1652640 1652640 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:1652640A>G uc002qxa.2 - 17 2976 c.2912T>C c.(2911-2913)TTC>TCC p.F971S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 971 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCCGGCCAGGAAGCAGGGGAT 0.697 3 18 --- --- --- --- PASS ROCK2 9475 broad.mit.edu 37 2 11337440 11337440 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:11337440A>G uc002rbd.1 - 27 3763 c.3314T>C c.(3313-3315)CTG>CCG p.L1105P NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 1105 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TGTCATCTGCAGTTCAATTCG 0.393 6 183 --- --- --- --- PASS PKDCC 91461 broad.mit.edu 37 2 42281206 42281206 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:42281206C>A uc002rsg.2 + 3 972 c.793C>A c.(793-795)CAC>AAC p.H265N NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 265 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 CCTCCTCCACCACCTGGCCCA 0.627 9 130 --- --- --- --- PASS ANXA4 307 broad.mit.edu 37 2 70015273 70015273 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:70015273G>T uc002sfr.3 + 3 324 c.97G>T c.(97-99)GGC>TGC p.G33C ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.G33C|ANXA4_uc010yqo.1_Intron NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 31 Annexin 1. anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 GAAAGGGCTCGGTATGTGTCC 0.547 35 76 --- --- --- --- PASS RAB11FIP5 26056 broad.mit.edu 37 2 73303202 73303202 + Silent SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:73303202G>C uc002siu.3 - 4 1918 c.1677C>G c.(1675-1677)CTC>CTG p.L559L RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.L481L NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 559 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 TGACTGTTTTGAGCTTCTCCA 0.632 204 315 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73718019 73718019 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:73718019A>G uc002sje.1 + 12 9047 c.8936A>G c.(8935-8937)GAC>GGC p.D2979G ALMS1_uc002sjf.1_Missense_Mutation_p.D2935G|ALMS1_uc002sjg.2_Missense_Mutation_p.D2365G|ALMS1_uc002sjh.1_Missense_Mutation_p.D2365G NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2977 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGTGTAGATGACCAAATGAAT 0.403 111 213 --- --- --- --- PASS TXNDC9 10190 broad.mit.edu 37 2 99938551 99938551 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:99938551G>T uc002szz.2 - 4 621 c.430C>A c.(430-432)CCC>ACC p.P144T MRPL30_uc002szl.1_Intron|TXNDC9_uc010yvp.1_Missense_Mutation_p.P161T|TXNDC9_uc002taa.1_Missense_Mutation_p.P144T NM_005783 NP_005774 O14530 TXND9_HUMAN thioredoxin domain containing 9 144 Thioredoxin. cell redox homeostasis protein binding 0 GCTAGTGTGGGAATGACTTTG 0.393 96 228 --- --- --- --- PASS LONRF2 164832 broad.mit.edu 37 2 100915388 100915388 + Silent SNP C G G rs114518866 by1000genomes TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:100915388C>G uc002tal.3 - 7 2026 c.1386G>C c.(1384-1386)ACG>ACC p.T462T LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 462 RING-type.|TPR 6. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GTCCACAGGGCGTAGTGACAG 0.448 44 127 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130832979 130832979 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:130832979T>C uc010fmh.2 - 17 2466 c.2066A>G c.(2065-2067)AAT>AGT p.N689S NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 689 Potential. cell cortex ATP binding skin(3)|ovary(2) 5 CTTTAAAAGATTATCATTCCT 0.433 46 42 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155098615 155098615 + Nonsense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:155098615G>A uc002tyr.3 + 5 951 c.384G>A c.(382-384)TGG>TGA p.W128* GALNT13_uc002tyt.3_Nonsense_Mutation_p.W128*|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 128 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ATGAAGCTTGGAGCACTCTCC 0.398 55 55 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163059394 163059394 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:163059394G>A uc002ucd.2 - 14 1419 c.1211C>T c.(1210-1212)ACA>ATA p.T404I FAP_uc010zct.1_Missense_Mutation_p.T379I|FAP_uc010fpd.2_Intron NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 404 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TGAATCCTGTGTTACTCTGAA 0.368 43 167 --- --- --- --- PASS WIPF1 7456 broad.mit.edu 37 2 175436644 175436644 + Missense_Mutation SNP T C C rs146135868 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:175436644T>C uc002uiy.2 - 6 1221 c.889A>G c.(889-891)ACT>GCT p.T297A uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T297A|WIPF1_uc010fqt.1_Missense_Mutation_p.T297A|WIPF1_uc002ujc.1_Missense_Mutation_p.T297A|WIPF1_uc002uiz.2_Missense_Mutation_p.T297A|WIPF1_uc002ujb.1_Missense_Mutation_p.T297A|WIPF1_uc010zep.1_Missense_Mutation_p.T297A NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 297 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGCCGCGGAGTGGAAGGCACT 0.682 21 11 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098957 178098957 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:178098957G>A uc002ulh.3 - 2 643 c.88C>T c.(88-90)CTT>TTT p.L30F NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTACTCCAAGATCTATATCT 0.368 Mis NSCLC|HNSCC HNSCC(56;0.16) 40 30 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179489294 179489294 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:179489294T>C uc010zfg.1 - 191 37233 c.37009A>G c.(37009-37011)AGG>GGG p.R12337G TTN_uc010zfh.1_Missense_Mutation_p.R6032G|TTN_uc010zfi.1_Missense_Mutation_p.R5965G|TTN_uc010zfj.1_Missense_Mutation_p.R5840G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13264 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) TTTCTGACCCTGCCATCAGCA 0.393 63 43 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179579804 179579804 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:179579804C>A uc010zfg.1 - 87 22601 c.22377G>T c.(22375-22377)CTG>CTT p.L7459L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L4120L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8386 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) CATCGACATTCAGGATGTGGA 0.448 207 99 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200298128 200298128 + Silent SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:200298128A>G uc002uuy.1 - 3 1096 c.279T>C c.(277-279)TTT>TTC p.F93F SATB2_uc010fsq.1_Silent_p.F93F|SATB2_uc002uuz.1_Silent_p.F93F|SATB2_uc002uva.1_Silent_p.F93F NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 93 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CCAGCTGGCTAAAAAGCACAT 0.547 3 119 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220405116 220405116 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr2:220405116C>T uc002vmc.3 - 4 1544 c.1317G>A c.(1315-1317)CCG>CCA p.P439P CHPF_uc010zlh.1_Silent_p.P277P NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 439 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCCGCAAGGCCGGGTGGTAGC 0.647 15 9 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39176662 39176662 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:39176662C>A uc003cjc.2 + 22 3139 c.2962C>A c.(2962-2964)CCA>ACA p.P988T TTC21A_uc003cje.2_Missense_Mutation_p.P989T|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.P940T|TTC21A_uc003cjf.2_Missense_Mutation_p.P109T NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 988 TPR 15. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGAGAAAGCGCCAGGTAATTC 0.517 61 27 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39176663 39176663 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:39176663C>A uc003cjc.2 + 22 3140 c.2963C>A c.(2962-2964)CCA>CAA p.P988Q TTC21A_uc003cje.2_Missense_Mutation_p.P989Q|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.P940Q|TTC21A_uc003cjf.2_Missense_Mutation_p.P109Q NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 988 TPR 15. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAGAAAGCGCCAGGTAATTCT 0.517 58 27 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39229489 39229489 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:39229489A>G uc003cjk.1 - 2 1669 c.1448T>C c.(1447-1449)GTG>GCG p.V483A XIRP1_uc003cji.2_Missense_Mutation_p.V483A|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 483 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CATGGCATACACTGGGGACCC 0.577 17 193 --- --- --- --- PASS C3orf23 285343 broad.mit.edu 37 3 44438258 44438258 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:44438258C>G uc010him.2 + 8 1062 c.817C>G c.(817-819)CGT>GGT p.R273G C3orf23_uc003cnd.3_Missense_Mutation_p.R273G|C3orf23_uc003cne.3_Missense_Mutation_p.R129G NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 273 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) ATTTACAGACCGTTCTGGCAT 0.408 7 104 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48607725 48607725 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:48607725C>T uc003ctz.2 - 97 7424 c.7423G>A c.(7423-7425)GGG>AGG p.G2475R NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2475 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTGGCTCCCCACGCTCGCCT 0.607 65 39 --- --- --- --- PASS FEZF2 55079 broad.mit.edu 37 3 62357315 62357315 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:62357315G>C uc003dlh.2 - 2 1087 c.880C>G c.(880-882)CGC>GGC p.R294G FEZF2_uc003dli.2_Missense_Mutation_p.R294G NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 294 C2H2-type 1. transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GGCATGTGGCGGGTGAGATTA 0.597 54 29 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113379185 113379185 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:113379185C>G uc003eam.2 - 7 1755 c.1344G>C c.(1342-1344)CAG>CAC p.Q448H KIAA2018_uc003eal.2_Missense_Mutation_p.Q392H NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 448 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AAGATGGTGTCTGGCTTAAGG 0.438 65 195 --- --- --- --- PASS GTF2E1 2960 broad.mit.edu 37 3 120469462 120469462 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:120469462G>A uc003edz.3 + 2 177 c.63G>A c.(61-63)GTG>GTA p.V21V GTF2E1_uc003edy.2_Silent_p.V21V NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 21 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) CCAAGTATGTGATCCGGGGAT 0.463 208 144 --- --- --- --- PASS OSBPL11 114885 broad.mit.edu 37 3 125271293 125271293 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:125271293C>A uc003eic.2 - 9 2123 c.1386G>T c.(1384-1386)AAG>AAT p.K462N NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 462 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 TTTTTGGCATCTTCCAGGAAC 0.453 69 187 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379841 127379841 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:127379841G>T uc003ejq.2 + 3 994 c.970G>T c.(970-972)GAT>TAT p.D324Y NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 324 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 CCCAGATGAAGATCCCCTTGG 0.587 16 224 --- --- --- --- PASS ATP2C1 27032 broad.mit.edu 37 3 130685990 130685990 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:130685990T>G uc003enl.2 + 15 1346 c.1124T>G c.(1123-1125)GTT>GGT p.V375G ATP2C1_uc011blg.1_Missense_Mutation_p.V409G|ATP2C1_uc011blh.1_Missense_Mutation_p.V370G|ATP2C1_uc011bli.1_Missense_Mutation_p.V409G|ATP2C1_uc003enk.2_Missense_Mutation_p.V359G|ATP2C1_uc003enm.2_Missense_Mutation_p.V375G|ATP2C1_uc003enn.2_Missense_Mutation_p.V359G|ATP2C1_uc003eno.2_Missense_Mutation_p.V375G|ATP2C1_uc003enp.2_Missense_Mutation_p.V375G|ATP2C1_uc003enq.2_Missense_Mutation_p.V375G|ATP2C1_uc003enr.2_Missense_Mutation_p.V375G|ATP2C1_uc003ens.2_Missense_Mutation_p.V375G|ATP2C1_uc003ent.2_Missense_Mutation_p.V375G|ATP2C1_uc003enu.2_Missense_Mutation_p.V53G NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 375 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GATCTTTAGGTTACTGGAGTT 0.358 Hailey-Hailey_disease 185 488 --- --- --- --- PASS SLC33A1 9197 broad.mit.edu 37 3 155571667 155571667 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:155571667C>T uc003fan.3 - 1 501 c.120G>A c.(118-120)TTG>TTA p.L40L SLC33A1_uc003fao.1_Silent_p.L40L NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 40 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCGCTGAGTCCAAATGACTGT 0.602 22 154 --- --- --- --- PASS GMPS 8833 broad.mit.edu 37 3 155654155 155654155 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:155654155G>T uc003faq.2 + 15 2171 c.1836G>T c.(1834-1836)CCG>CCT p.P612P GMPS_uc011bom.1_Silent_p.P513P NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 612 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCCAGATGCCGGTGATTTTGA 0.413 T MLL AML 87 225 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 156979090 156979090 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:156979090G>A uc003fbj.1 - 14 2652 c.2335C>T c.(2335-2337)CGC>TGC p.R779C VEPH1_uc003fbk.1_Missense_Mutation_p.R779C|VEPH1_uc010hvu.1_Missense_Mutation_p.R734C NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 779 PH. plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CGGTCCCTGCGTTTCTTGGCC 0.488 8 271 --- --- --- --- PASS MLF1 4291 broad.mit.edu 37 3 158317959 158317959 + Nonsense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:158317959G>T uc003fcb.2 + 5 702 c.565G>T c.(565-567)GAA>TAA p.E189* MLF1_uc003fbz.2_Nonsense_Mutation_p.E164*|MLF1_uc003fca.2_Nonsense_Mutation_p.E164*|MLF1_uc003fbx.2_Nonsense_Mutation_p.E179*|MLF1_uc003fcc.2_Nonsense_Mutation_p.E220*|MLF1_uc003fby.2_Nonsense_Mutation_p.E115*|MLF1_uc010hvx.2_Nonsense_Mutation_p.E121* NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 189 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) CAATATGAATGAAAGTAAGTT 0.289 T NPM1 AML 86 66 --- --- --- --- PASS TNFSF10 8743 broad.mit.edu 37 3 172227050 172227050 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:172227050G>A uc003fid.2 - 4 470 c.375C>T c.(373-375)CAC>CAT p.H125H TNFSF10_uc003fie.2_Intron NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 125 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCCCAGTTATGTGAGCTGCTA 0.398 15 233 --- --- --- --- PASS PARL 55486 broad.mit.edu 37 3 183585724 183585724 + Nonsense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr3:183585724C>A uc003fmd.2 - 2 309 c.250G>T c.(250-252)GAA>TAA p.E84* PARL_uc003fme.2_Nonsense_Mutation_p.E84* NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 84 Mitochondrial matrix (Potential). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACTGTTTCTTCCACAGGAGGA 0.433 98 247 --- --- --- --- PASS SLC34A2 10568 broad.mit.edu 37 4 25665869 25665869 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:25665869G>T uc003grr.2 + 4 377 c.296G>T c.(295-297)GGG>GTG p.G99V SLC34A2_uc003grs.2_Missense_Mutation_p.G98V|SLC34A2_uc010iev.2_Missense_Mutation_p.G98V NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 99 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CAAGGGATTGGGAGATTGATT 0.473 19 175 --- --- --- --- PASS CCKAR 886 broad.mit.edu 37 4 26483565 26483565 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:26483565G>C uc003gse.1 - 5 1135 c.982C>G c.(982-984)CCC>GCC p.P328A NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 328 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) CTGAAGATGGGCATCCAGCAC 0.612 11 126 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44450422 44450422 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:44450422G>A uc003gwu.2 - 1 403 c.119C>T c.(118-120)TCG>TTG p.S40L NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 40 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 AGGGAAGGGCGAGGGTGCGCA 0.507 HNSCC(17;0.042) 14 8 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52942956 52942956 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:52942956G>A uc003gzl.2 + 7 1048 c.770G>A c.(769-771)AGC>AAC p.S257N SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.S225N|SPATA18_uc003gzk.1_Missense_Mutation_p.S257N NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 257 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCCTCCAGGAGCCGGTCTCCC 0.498 16 61 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56890686 56890686 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:56890686A>T uc003hbi.2 + 25 3574 c.3340A>T c.(3340-3342)ATG>TTG p.M1114L CEP135_uc003hbj.2_Missense_Mutation_p.M820L NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 1114 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) AATCCAAGAGATGCGTCGACA 0.388 80 360 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70146679 70146679 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:70146679T>G uc003hej.2 + 1 463 c.461T>G c.(460-462)TTT>TGT p.F154C UGT2B28_uc010ihr.2_Missense_Mutation_p.F154C NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 154 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GATGCTTTTTTTCCTTGTGGT 0.388 5 190 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113524783 113524783 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:113524783G>A uc003iau.2 - 10 3084 c.2873C>T c.(2872-2874)TCA>TTA p.S958L C4orf21_uc003iaw.2_Missense_Mutation_p.S958L NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TCCTAGCTGTGAGCTGTGTCC 0.408 48 76 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113524786 113524786 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:113524786C>T uc003iau.2 - 10 3081 c.2870G>A c.(2869-2871)AGC>AAC p.S957N C4orf21_uc003iaw.2_Missense_Mutation_p.S957N NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TAGCTGTGAGCTGTGTCCTCT 0.408 48 77 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134071539 134071539 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:134071539G>A uc003iha.2 + 1 1070 c.244G>A c.(244-246)GAA>AAA p.E82K uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E82K NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 82 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AATAGACCGCGAACAAATCTG 0.562 29 91 --- --- --- --- PASS CCRN4L 25819 broad.mit.edu 37 4 139966421 139966421 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:139966421C>T uc003ihl.2 + 3 1282 c.1089C>T c.(1087-1089)ACC>ACT p.T363T NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 363 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) CATACACTACCTGGAAGATCC 0.517 37 80 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141543385 141543385 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:141543385C>A uc010ioj.2 - 21 4037 c.3765G>T c.(3763-3765)TCG>TCT p.S1255S NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1255 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AGTCACTGGCCGAGGTGAGGG 0.572 4 109 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247367 153247367 + Nonsense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:153247367G>A uc003ims.2 - 10 1584 c.1435C>T c.(1435-1437)CGA>TGA p.R479* FBXW7_uc011cii.1_Nonsense_Mutation_p.R479*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R479*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R303*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R399*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R361* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 479 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R479Q(31)|p.R479L(6)|p.R479G(3) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTGGCATCTCGAGAACCGCTA 0.398 Mis|N|D|F colorectal|endometrial|T-ALL 32 58 --- --- --- --- PASS NPY5R 4889 broad.mit.edu 37 4 164272519 164272519 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:164272519G>T uc003iqn.2 + 4 1276 c.1094G>T c.(1093-1095)AGT>ATT p.S365I NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 365 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) AGATCTCGAAGTGTTTTCTAC 0.353 45 100 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177032751 177032751 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:177032751T>A uc003iuj.2 + 3 248 c.92T>A c.(91-93)GTG>GAG p.V31E WDR17_uc003iuk.2_Missense_Mutation_p.V7E|WDR17_uc003ium.3_Missense_Mutation_p.V7E|WDR17_uc003iul.1_Missense_Mutation_p.V7E NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 31 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTAAGGCAAGTGGGATTGCTG 0.408 33 66 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177098633 177098633 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:177098633A>T uc003iuj.2 + 30 3833 c.3677A>T c.(3676-3678)GAC>GTC p.D1226V WDR17_uc003iuk.2_Missense_Mutation_p.D1202V|WDR17_uc003ium.3_Missense_Mutation_p.D1187V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.D437V NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1226 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCATTAGAAGACTCTCCGTAT 0.299 29 138 --- --- --- --- PASS SPATA4 132851 broad.mit.edu 37 4 177113789 177113789 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr4:177113789T>C uc003iuo.1 - 4 786 c.677A>G c.(676-678)AAA>AGA p.K226R NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 226 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) TGGATTCAATTTTCTGCCTAA 0.398 28 57 --- --- --- --- PASS NKD2 85409 broad.mit.edu 37 5 1038076 1038076 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:1038076G>C uc003jbt.1 + 10 949 c.944G>C c.(943-945)CGG>CCG p.R315P NKD2_uc010itf.1_3'UTR NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 315 Interaction with TGFA. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CCTGCTGCCCGGGCCCTGGAC 0.701 12 21 --- --- --- --- PASS IRX1 79192 broad.mit.edu 37 5 3601130 3601130 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:3601130C>G uc003jde.2 + 4 1471 c.1419C>G c.(1417-1419)ATC>ATG p.I473M NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 473 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CGCCGCGGATCCTAGCAGCCC 0.627 42 111 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7706904 7706904 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:7706904T>C uc003jdz.1 + 8 1224 c.1157T>C c.(1156-1158)GTG>GCG p.V386A ADCY2_uc011cmo.1_Missense_Mutation_p.V206A NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 386 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGCGTGGGCGTGCATTCTGGG 0.473 81 300 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181646 41181646 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:41181646C>A uc003jmk.2 - 7 952 c.742G>T c.(742-744)GAT>TAT p.D248Y C6_uc003jml.1_Missense_Mutation_p.D248Y NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 248 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTCAAGTCATCTTCTGCAGTT 0.348 34 109 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42719278 42719278 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:42719278C>G uc003jmt.2 + 10 1712 c.1669C>G c.(1669-1671)CAG>GAG p.Q557E GHR_uc011cpq.1_Missense_Mutation_p.Q370E NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 557 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATCACACATACAGCCAAGCTT 0.483 59 42 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262556 45262556 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:45262556C>A uc003jok.2 - 8 2165 c.2140G>T c.(2140-2142)GCT>TCT p.A714S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 714 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AAAGTTCGAGCGGCCAGAGGG 0.483 38 38 --- --- --- --- PASS DIMT1L 27292 broad.mit.edu 37 5 61690317 61690317 + Silent SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:61690317T>A uc003jta.2 - 7 693 c.564A>T c.(562-564)CTA>CTT p.L188L DIMT1L_uc011cqq.1_Silent_p.L188L NM_014473 NP_055288 Q9UNQ2 DIMT1_HUMAN dimethyladenosine transferase 188 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity central_nervous_system(1) 1 Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.122) TTACTTTCATTAGATGGTCCA 0.239 63 34 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475948 140475948 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:140475948C>T uc003lil.2 + 1 1712 c.1574C>T c.(1573-1575)GCC>GTC p.A525V PCDHB2_uc003lim.1_Missense_Mutation_p.A186V NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 525 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTACGAGGCCCTGCAGGCG 0.716 79 37 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594268 140594268 + Silent SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:140594268A>G uc003lja.1 + 1 760 c.573A>G c.(571-573)AAA>AAG p.K191K NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 191 Cadherin 2.|Extracellular (Potential). 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) ATGGCAGGAAATACCCAGAGC 0.517 45 34 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140755620 140755620 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:140755620C>A uc003ljy.1 + 1 1970 c.1970C>A c.(1969-1971)ACT>AAT p.T657N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T657N NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 657 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCCGCCACTGTCACGCTC 0.701 21 8 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169502994 169502994 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:169502994T>A uc003maf.2 + 47 4852 c.4772T>A c.(4771-4773)GTG>GAG p.V1591E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V1083E|DOCK2_uc003mah.2_Missense_Mutation_p.V147E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1591 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGAAAAGGGTGTCAGATAAC 0.517 144 71 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51524724 51524724 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:51524724C>A uc003pah.1 - 61 10476 c.10200G>T c.(10198-10200)ATG>ATT p.M3400I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3400 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGAATCCTTGCATCAGAAATT 0.343 38 29 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51524725 51524725 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:51524725A>G uc003pah.1 - 61 10475 c.10199T>C c.(10198-10200)ATG>ACG p.M3400T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3400 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAATCCTTGCATCAGAAATTG 0.343 38 29 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76580384 76580384 + Silent SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:76580384G>C uc003pih.1 + 19 2244 c.1965G>C c.(1963-1965)CTG>CTC p.L655L MYO6_uc003pig.1_Silent_p.L655L|MYO6_uc003pii.1_Silent_p.L655L NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 655 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ATTTGCTTCTGGATAAACTTC 0.318 28 29 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112537599 112537599 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:112537599G>C uc003pvu.2 - 3 576 c.267C>G c.(265-267)AAC>AAG p.N89K LAMA4_uc003pvv.2_Missense_Mutation_p.N89K|LAMA4_uc003pvt.2_Missense_Mutation_p.N89K|LAMA4_uc003pvw.2_Missense_Mutation_p.N89K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 89 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCAAACACTCGTTGGAATTGC 0.458 53 78 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121481233 121481233 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:121481233G>C uc003pyo.1 - 24 2764 c.2696C>G c.(2695-2697)CCT>CGT p.P899R C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.P459R NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 899 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) CATTGGCCAAGGATATGGATT 0.308 38 142 --- --- --- --- PASS GPR126 57211 broad.mit.edu 37 6 142691627 142691627 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:142691627G>T uc010khc.2 + 4 1177 c.766G>T c.(766-768)GTT>TTT p.V256F GPR126_uc010khd.2_Missense_Mutation_p.V256F|GPR126_uc010khe.2_Missense_Mutation_p.V256F|GPR126_uc010khf.2_Missense_Mutation_p.V256F|GPR126_uc003qix.2_Missense_Mutation_p.V256F NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 256 Pentaxin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTCTGCCTTGTTTGGAATAA 0.333 4 137 --- --- --- --- PASS RAET1G 353091 broad.mit.edu 37 6 150239492 150239492 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:150239492G>T uc010kii.1 - 4 728 c.660C>A c.(658-660)GCC>GCA p.A220A uc003qni.1_Intron|RAET1G_uc003qnm.2_Intron NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 220 Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CCCTGGGTTGGGCTGTGCCTG 0.587 25 69 --- --- --- --- PASS MTHFD1L 25902 broad.mit.edu 37 6 151331065 151331065 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:151331065G>A uc003qob.2 + 21 2504 c.2236G>A c.(2236-2238)GCT>ACT p.A746T MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.A747T|MTHFD1L_uc003qoc.2_Missense_Mutation_p.A694T NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 746 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) AACGGTGCGAGCTCTGAAGAT 0.478 8 114 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152163791 152163791 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:152163791A>T uc003qom.3 + 4 882 c.512A>T c.(511-513)AAG>ATG p.K171M ESR1_uc010kin.2_Missense_Mutation_p.K171M|ESR1_uc010kio.2_Missense_Mutation_p.K171M|ESR1_uc010kip.2_Missense_Mutation_p.K171M|ESR1_uc003qon.3_Missense_Mutation_p.K171M|ESR1_uc003qoo.3_Missense_Mutation_p.K171M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Translation_Start_Site|ESR1_uc011eew.1_Missense_Mutation_p.R3W NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 171 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ACCAATGACAAGGGAAGTATG 0.473 36 37 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152163792 152163792 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:152163792G>A uc003qom.3 + 4 883 c.513G>A c.(511-513)AAG>AAA p.K171K ESR1_uc010kin.2_Silent_p.K171K|ESR1_uc010kio.2_Silent_p.K171K|ESR1_uc010kip.2_Silent_p.K171K|ESR1_uc003qon.3_Silent_p.K171K|ESR1_uc003qoo.3_Silent_p.K171K|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_5'UTR|ESR1_uc011eew.1_Missense_Mutation_p.R3K NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 171 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CCAATGACAAGGGAAGTATGG 0.468 34 37 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152674504 152674504 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:152674504G>A uc010kiw.2 - 69 11749 c.11147C>T c.(11146-11148)TCC>TTC p.S3716F SYNE1_uc003qot.3_Missense_Mutation_p.S3701F|SYNE1_uc003qou.3_Missense_Mutation_p.S3716F|SYNE1_uc010kja.1_Missense_Mutation_p.S421F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3716 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCAGAATAGGAACTGAGGGA 0.368 HNSCC(10;0.0054) 50 178 --- --- --- --- PASS RBM16 22828 broad.mit.edu 37 6 155153569 155153569 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:155153569C>T uc003qqa.2 + 21 3088 c.2856C>T c.(2854-2856)ATC>ATT p.I952I TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Silent_p.I1018I|RBM16_uc011efk.1_Silent_p.I997I|RBM16_uc003qpz.2_Silent_p.I952I|RBM16_uc010kji.2_Intron NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 952 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) AACGGGGAATCCCACCCCCAT 0.498 164 234 --- --- --- --- PASS WDR27 253769 broad.mit.edu 37 6 170058390 170058390 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr6:170058390C>G uc003qwx.2 - 13 1904 c.1384G>C c.(1384-1386)GCT>CCT p.A462P WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.A462P|WDR27_uc003qwy.2_Missense_Mutation_p.A335P|WDR27_uc003qwz.1_Missense_Mutation_p.A195P A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 432 pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TGTTCACTAGCAGCCTTGGTA 0.512 2 10 --- --- --- --- PASS HEATR2 54919 broad.mit.edu 37 7 796505 796505 + Silent SNP C A A rs141887568 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:796505C>A uc010krz.1 + 6 1364 c.1344C>A c.(1342-1344)CCC>CCA p.P448P HEATR2_uc003siz.2_Silent_p.P316P NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 448 protein binding p.P448P(1) skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) AGAAGACGCCCTCTGCCTCCG 0.627 67 107 --- --- --- --- PASS MMD2 221938 broad.mit.edu 37 7 4947205 4947205 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:4947205A>G uc003sno.3 - 7 831 c.635T>C c.(634-636)CTG>CCG p.L212P MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.L188P|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 212 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) TCCGGTCACCAGCTCCCAGAT 0.602 43 99 --- --- --- --- PASS AUTS2 26053 broad.mit.edu 37 7 70255532 70255532 + Silent SNP C T T rs141714268 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:70255532C>T uc003tvw.3 + 19 4073 c.3330C>T c.(3328-3330)TAC>TAT p.Y1110Y AUTS2_uc003tvx.3_Silent_p.Y1086Y|AUTS2_uc011keg.1_Silent_p.Y562Y NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1110 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCGGCTGTACGAAGCCGACC 0.562 6 9 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70597840 70597840 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:70597840G>T uc003tvy.2 + 1 52 c.52G>T c.(52-54)GTA>TTA p.V18L NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 18 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTTGATCGCGGTAGCCGGCTT 0.677 29 32 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70885948 70885948 + Silent SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:70885948C>G uc003tvy.2 + 5 819 c.819C>G c.(817-819)CCC>CCG p.P273P WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 273 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGATCCTCCCCTCCATTGACA 0.542 118 265 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 87005147 87005147 + Nonsense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:87005147C>T uc003uit.2 + 9 999 c.754C>T c.(754-756)CGA>TGA p.R252* CROT_uc003uiu.2_Nonsense_Mutation_p.R280* NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 252 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) CCTTTAGGCACGAGAATATCT 0.353 7 173 --- --- --- --- PASS C7orf63 79846 broad.mit.edu 37 7 89937162 89937162 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:89937162G>T uc010lep.2 + 21 2795 c.2544G>T c.(2542-2544)ACG>ACT p.T848T C7orf63_uc011khj.1_Silent_p.T830T|C7orf63_uc011khk.1_Silent_p.T364T NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 848 binding ovary(1) 1 ACGCTAAAACGTTAAAGGTAG 0.343 12 28 --- --- --- --- PASS DLX5 1749 broad.mit.edu 37 7 96650141 96650141 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:96650141C>G uc003uon.2 - 3 985 c.777G>C c.(775-777)TGG>TGC p.W259C NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 259 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CACTTGTGTACCAGGATGCAG 0.647 39 80 --- --- --- --- PASS MCM7 4176 broad.mit.edu 37 7 99695279 99695279 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:99695279C>A uc003usw.1 - 9 1585 c.1075G>T c.(1075-1077)GTC>TTC p.V359F MCM7_uc003usv.1_Missense_Mutation_p.V183F|MCM7_uc003usx.1_Missense_Mutation_p.V183F NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 359 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) ACACCCCCGACTAGCAGGAGC 0.507 230 357 --- --- --- --- PASS EPHB4 2050 broad.mit.edu 37 7 100403230 100403230 + Nonsense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:100403230C>T uc003uwn.1 - 15 3062 c.2571G>A c.(2569-2571)TGG>TGA p.W857* EPHB4_uc003uwm.1_Nonsense_Mutation_p.W764*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W857* NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 857 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) GGTCTTTCTGCCAACAGTCCA 0.637 10 266 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100607832 100607832 + RNA SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:100607832C>A uc003uxk.1 + 4 c.2363C>A uc003uxl.1_Missense_Mutation_p.T560N|uc003uxm.1_RNA|uc003uxn.1_RNA|uc010lhn.1_5'Flank Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. CAGGTGAAGACCACGCTGAAG 0.647 7 155 --- --- --- --- PASS C7orf60 154743 broad.mit.edu 37 7 112579794 112579794 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:112579794C>A uc003vgo.1 - 1 139 c.12G>T c.(10-12)GGG>GGT p.G4G C7orf60_uc011kms.1_Silent_p.G4G NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 4 ovary(2)|skin(1) 3 GGCCGCCGGCCCCTGGCTCCA 0.612 4 10 --- --- --- --- PASS AKR1B15 441282 broad.mit.edu 37 7 134253073 134253073 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:134253073G>T uc011kpr.1 + 4 613 c.314G>T c.(313-315)AGC>ATC p.S105I AKR1B15_uc003vrt.2_Missense_Mutation_p.S77I|AKR1B15_uc011kps.1_Missense_Mutation_p.S77I NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 105 oxidoreductase activity ovary(1) 1 TTCATCGTCAGCAAGGTGCAC 0.527 8 244 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135309982 135309982 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:135309982C>G uc003vsw.2 + 32 4581 c.4550C>G c.(4549-4551)TCT>TGT p.S1517C NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1517 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TTGTATCTTTCTAACAGTGGC 0.448 10 246 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141036 143141036 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:143141036A>T uc011ktg.1 + 1 491 c.491A>T c.(490-492)CAC>CTC p.H164L uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 164 Extracellular (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) ATAGGCAACCACAGAATGTAT 0.448 108 215 --- --- --- --- PASS ARHGEF5 7984 broad.mit.edu 37 7 144062298 144062298 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:144062298G>A uc003wel.2 + 2 2654 c.2536G>A c.(2536-2538)GAC>AAC p.D846N ARHGEF5_uc003wek.2_Missense_Mutation_p.D846N|ARHGEF5_uc003wem.2_5'Flank NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 846 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) ACCCATCATAGACCCTCCCAC 0.597 17 36 --- --- --- --- PASS INSIG1 3638 broad.mit.edu 37 7 155090172 155090172 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr7:155090172G>T uc003wly.2 + 2 388 c.177G>T c.(175-177)GCG>GCT p.A59A INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Silent_p.A59A NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 59 Cytoplasmic. cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGACCCCGCGCCCAGGGGCC 0.721 8 8 --- --- --- --- PASS ARHGEF10 9639 broad.mit.edu 37 8 1808301 1808301 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:1808301C>T uc003wpr.2 + 4 610 c.432C>T c.(430-432)CCC>CCT p.P144P ARHGEF10_uc003wpq.1_Silent_p.P168P|ARHGEF10_uc003wps.2_Silent_p.P144P|ARHGEF10_uc003wpt.2_Silent_p.P58P|ARHGEF10_uc010lrd.1_Silent_p.P58P|ARHGEF10_uc003wpu.2_Silent_p.P58P NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 168 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TCCTGCTGCCCGCCTACTCCA 0.652 27 81 --- --- --- --- PASS RHOBTB2 23221 broad.mit.edu 37 8 22861981 22861981 + Missense_Mutation SNP G A A rs144645186 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:22861981G>A uc003xcq.2 + 2 571 c.34G>A c.(34-36)GTA>ATA p.V12I RHOBTB2_uc003xcp.2_Missense_Mutation_p.V34I|RHOBTB2_uc011kzp.1_Missense_Mutation_p.V19I NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 12 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) AAGGCCAAACGTAGAGACCAT 0.597 OREG0018628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 83 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37756795 37756795 + Silent SNP G T T rs78017237 byFrequency TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:37756795G>T uc003xkm.1 - 1 209 c.165C>A c.(163-165)TCC>TCA p.S55S RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Silent_p.S55S NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 55 C2. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GCTCCGACACGGAGGTGGCGT 0.751 9 23 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53074075 53074075 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:53074075G>T uc003xqz.2 - 9 1610 c.1454C>A c.(1453-1455)TCT>TAT p.S485Y ST18_uc011ldq.1_Missense_Mutation_p.S132Y|ST18_uc011ldr.1_Missense_Mutation_p.S450Y|ST18_uc011lds.1_Missense_Mutation_p.S390Y|ST18_uc003xra.2_Missense_Mutation_p.S485Y|ST18_uc003xrb.2_Missense_Mutation_p.S485Y NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 485 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGCTCTGGGAGAGGTGATGGC 0.423 60 124 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55537321 55537321 + Silent SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:55537321T>G uc003xsd.1 + 4 1027 c.879T>G c.(877-879)TCT>TCG p.S293S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 293 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGACTATTCTTTTGTTCCTG 0.303 9 165 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72968009 72968009 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:72968009G>T uc003xza.2 - 11 1451 c.1276C>A c.(1276-1278)CCT>ACT p.P426T NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 426 ANK 10.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ACAGAACCAGGGCCCCCCTGT 0.408 46 70 --- --- --- --- PASS HNF4G 3174 broad.mit.edu 37 8 76463627 76463627 + Silent SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:76463627A>T uc003yaq.2 + 5 516 c.246A>T c.(244-246)GTA>GTT p.V82V HNF4G_uc003yar.2_Silent_p.V119V NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 82 Nuclear receptor. endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CCCTAGCTGTACAAAATGAAC 0.378 35 49 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 101117606 101117606 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:101117606T>A uc003yjb.1 - 2 245 c.50A>T c.(49-51)GAA>GTA p.E17V RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.E17V|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 17 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACTTACAAATTCTTCTTCTGT 0.328 5 193 --- --- --- --- PASS EIF3H 8667 broad.mit.edu 37 8 117671117 117671117 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:117671117C>A uc003yoa.2 - 3 418 c.392G>T c.(391-393)CGG>CTG p.R131L EIF3H_uc003yob.2_Missense_Mutation_p.R145L|EIF3H_uc011lhz.1_Missense_Mutation_p.R131L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 131 MPN. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CAGGAGTGCCCGGGTAACGAA 0.428 75 99 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133144497 133144497 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:133144497A>T uc003ytj.2 - 14 2039 c.1814T>A c.(1813-1815)GTA>GAA p.V605E KCNQ3_uc010mdt.2_Missense_Mutation_p.V593E NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 605 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGGTCTGGCTACATATGGTTC 0.398 39 81 --- --- --- --- PASS TRAPPC9 83696 broad.mit.edu 37 8 140744269 140744269 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:140744269G>A uc003yvj.2 - 22 3366 c.3232C>T c.(3232-3234)CAC>TAC p.H1078Y TRAPPC9_uc003yvh.2_Missense_Mutation_p.H1176Y NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 1078 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 ACGGTGTCGTGCAGGTCGTAG 0.657 12 10 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144995111 144995111 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr8:144995111T>G uc003zaf.1 - 32 9459 c.9289A>C c.(9289-9291)ATC>CTC p.I3097L PLEC_uc003zab.1_Missense_Mutation_p.I2960L|PLEC_uc003zac.1_Missense_Mutation_p.I2964L|PLEC_uc003zad.2_Missense_Mutation_p.I2960L|PLEC_uc003zae.1_Missense_Mutation_p.I2928L|PLEC_uc003zag.1_Missense_Mutation_p.I2938L|PLEC_uc003zah.2_Missense_Mutation_p.I2946L|PLEC_uc003zaj.2_Missense_Mutation_p.I2987L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3097 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACCACCGTGATGATGATCTTG 0.622 9 81 --- --- --- --- PASS RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:6012658T>G uc003zjr.2 - 1 2961 c.2950A>C c.(2950-2952)ATA>CTA p.I984L RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 984 HEAT 7. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363 3 109 --- --- --- --- PASS MURC 347273 broad.mit.edu 37 9 103348698 103348698 + Nonsense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:103348698G>T uc004bba.2 + 2 1150 c.1060G>T c.(1060-1062)GAA>TAA p.E354* NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 354 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) AGAGGATGATGAATCTCTTTT 0.398 23 91 --- --- --- --- PASS ZNF618 114991 broad.mit.edu 37 9 116769663 116769663 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:116769663A>G uc004bid.2 + 7 683 c.584A>G c.(583-585)AAG>AGG p.K195R ZNF618_uc004bib.1_Missense_Mutation_p.K163R|ZNF618_uc004bic.2_Missense_Mutation_p.K163R|ZNF618_uc011lxi.1_Missense_Mutation_p.K163R|ZNF618_uc011lxj.1_Missense_Mutation_p.K163R NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 195 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCTGCGGGAAGAAGTACAAA 0.532 28 28 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117139707 117139707 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:117139707C>T uc004biq.3 - 2 515 c.380G>A c.(379-381)GGG>GAG p.G127E AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.G46E|AKNA_uc004bir.3_Missense_Mutation_p.G127E|AKNA_uc004bis.3_Missense_Mutation_p.G127E|AKNA_uc010mve.2_Missense_Mutation_p.G8E|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.G127E|AKNA_uc004biw.1_Missense_Mutation_p.G127E NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TCCGAGGGTCCCATCTGGCTC 0.607 59 49 --- --- --- --- PASS DFNB31 25861 broad.mit.edu 37 9 117188587 117188587 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:117188587T>C uc004biz.3 - 4 1719 c.1070A>G c.(1069-1071)AAG>AGG p.K357R DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.K357R NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 357 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 CCCGACGTCCTTCACTGTCAG 0.592 17 68 --- --- --- --- PASS NEK6 10783 broad.mit.edu 37 9 127088623 127088623 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:127088623G>C uc004bog.2 + 6 569 c.420G>C c.(418-420)CAG>CAC p.Q140H NEK6_uc004bof.2_Missense_Mutation_p.Q158H|NEK6_uc004boh.2_Missense_Mutation_p.Q174H|NEK6_uc010mwj.2_Missense_Mutation_p.Q93H|NEK6_uc010mwk.2_Missense_Mutation_p.Q140H|NEK6_uc004boi.2_Missense_Mutation_p.Q140H NM_014397 NP_055212 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 isoform 2 140 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|kidney(1) 3 TTAAGAAGCAGAAGCGGCTCA 0.602 46 41 --- --- --- --- PASS FCN2 2220 broad.mit.edu 37 9 137774436 137774436 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:137774436G>T uc004cfg.1 + 2 175 c.165G>T c.(163-165)CTG>CTT p.L55L FCN2_uc004cfh.1_Intron NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 55 Collagen-like. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GTCCGGGGCTGCCTGGGGCCC 0.607 35 149 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139909524 139909524 + Silent SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr9:139909524T>A uc011mem.1 - 24 3868 c.3720A>T c.(3718-3720)CCA>CCT p.P1240P ABCA2_uc011mel.1_Silent_p.P1241P|ABCA2_uc004ckl.1_Silent_p.P1171P|ABCA2_uc004ckm.1_Silent_p.P1271P|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1240 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGGCCCGACCTGGGGGGCTGG 0.662 33 68 --- --- --- --- PASS USP6NL 9712 broad.mit.edu 37 10 11504618 11504618 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:11504618G>A uc001ikt.3 - 15 2630 c.2309C>T c.(2308-2310)GCA>GTA p.A770V USP6NL_uc001iks.1_Missense_Mutation_p.A787V NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 770 intracellular Rab GTPase activator activity 0 CTGAAAGGGTGCGAGTTGAAA 0.493 141 84 --- --- --- --- PASS NMT2 9397 broad.mit.edu 37 10 15154953 15154953 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:15154953C>T uc001inz.1 - 10 1264 c.1180G>A c.(1180-1182)GGT>AGT p.G394S NMT2_uc001ioa.1_Missense_Mutation_p.G381S|NMT2_uc009xjo.1_Missense_Mutation_p.G394S|NMT2_uc010qbz.1_Missense_Mutation_p.G206S NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 394 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 GTCAGTTTACCGTTGGGGCTC 0.512 27 126 --- --- --- --- PASS MASTL 84930 broad.mit.edu 37 10 27459555 27459555 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:27459555C>G uc001itm.2 + 8 2306 c.1667C>G c.(1666-1668)TCT>TGT p.S556C MASTL_uc001itl.2_Missense_Mutation_p.S556C|MASTL_uc009xkw.1_Missense_Mutation_p.S556C|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 556 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TTTCTATGTTCTGATGATGAT 0.328 4 138 --- --- --- --- PASS FZD8 8325 broad.mit.edu 37 10 35929155 35929155 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:35929155C>A uc001iyz.1 - 1 1208 c.1203G>T c.(1201-1203)TTG>TTT p.L401F NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 401 Helical; Name=3; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 AGTAGACCAGCAAGAAGACCA 0.567 23 25 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508589 37508589 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:37508589G>C uc001iza.1 + 34 3880 c.3781G>C c.(3781-3783)GAG>CAG p.E1261Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1317 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TGAACAGCAGGAGTCTCTAGA 0.368 4 45 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50960229 50960229 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:50960229C>T uc001jie.2 - 5 686 c.544G>A c.(544-546)GGG>AGG p.G182R OGDHL_uc009xog.2_Missense_Mutation_p.G209R|OGDHL_uc010qgt.1_Missense_Mutation_p.G125R|OGDHL_uc010qgu.1_5'UTR|OGDHL_uc009xoh.2_5'UTR NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 182 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TCAGAGCCCCCAATGAAGGTG 0.607 20 13 --- --- --- --- PASS MYOZ1 58529 broad.mit.edu 37 10 75393825 75393825 + Splice_Site SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:75393825T>A uc001jur.2 - 5 868 c.503_splice c.e5-1 p.G168_splice NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) CCTGGTCTCCTGGTAGCCATG 0.488 3 31 --- --- --- --- PASS ZNF518A 9849 broad.mit.edu 37 10 97919827 97919827 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:97919827A>G uc001klp.2 + 6 4605 c.3748A>G c.(3748-3750)ACT>GCT p.T1250A ZNF518A_uc001klo.1_Missense_Mutation_p.T720A|ZNF518A_uc001klq.2_Missense_Mutation_p.T1250A|ZNF518A_uc001klr.2_Missense_Mutation_p.T1250A NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TAGAAAAAAGACTTCCAAAAA 0.338 5 69 --- --- --- --- PASS KCNK18 338567 broad.mit.edu 37 10 118969568 118969568 + Nonsense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:118969568G>T uc010qsr.1 + 3 913 c.913G>T c.(913-915)GAG>TAG p.E305* NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 305 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CCCCTTCTGGGAGACACAGTT 0.488 7 244 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124390004 124390004 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr10:124390004G>A uc001lgk.1 + 45 5742 c.5636G>A c.(5635-5637)AGC>AAC p.S1879N DMBT1_uc001lgl.1_Missense_Mutation_p.S1869N|DMBT1_uc001lgm.1_Missense_Mutation_p.S1251N|DMBT1_uc009xzz.1_Missense_Mutation_p.S1879N|DMBT1_uc010qtx.1_Missense_Mutation_p.S599N|DMBT1_uc009yab.1_Missense_Mutation_p.S582N|DMBT1_uc009yac.1_Missense_Mutation_p.S173N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1879 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCTTCCCAAGCGGTAAGTGC 0.463 10 47 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 674723 674723 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:674723G>A uc001lqq.1 - 10 2009 c.1316C>T c.(1315-1317)CCC>CTC p.P439L DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 439 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GACCAACGCGGGAGGTGCCGC 0.562 88 133 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1264922 1264922 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:1264922C>A uc009ycr.1 + 48 8852 c.8726C>A c.(8725-8727)ACC>AAC p.T2909N MUC5B_uc001ltb.2_Missense_Mutation_p.T2274N NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2271 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGGGACGACCACCCCGGGC 0.682 34 196 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1267380 1267380 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:1267380C>A uc009ycr.1 + 49 11145 c.11019C>A c.(11017-11019)ACC>ACA p.T3673T MUC5B_uc001ltb.2_Silent_p.T3093T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3090 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCATGGCCACCATGTCCACAA 0.612 37 56 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 3877612 3877612 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:3877612G>A uc001lyv.2 + 1 680 c.112G>A c.(112-114)GCC>ACC p.A38T STIM1_uc009yef.2_Missense_Mutation_p.A38T NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 38 Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CAGCTCGGGGGCCAACTCTGA 0.637 6 144 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6646574 6646574 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:6646574G>A uc001mem.1 - 19 7411 c.7001C>T c.(7000-7002)ACG>ATG p.T2334M NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2334 Cadherin 22.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGGCCCCGTGAGGGAGAC 0.612 23 39 --- --- --- --- PASS OR10A5 144124 broad.mit.edu 37 11 6867073 6867073 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:6867073C>A uc001met.1 + 1 160 c.160C>A c.(160-162)CCC>ACC p.P54T NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTAGCTGACCCCATGCTACA 0.453 157 335 --- --- --- --- PASS OR4A47 403253 broad.mit.edu 37 11 48510836 48510836 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:48510836C>A uc010rhx.1 + 1 492 c.492C>A c.(490-492)CTC>CTA p.L164L NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTATGGGCTCCCATTCTGTG 0.448 153 226 --- --- --- --- PASS CTTN 2017 broad.mit.edu 37 11 70260667 70260667 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:70260667A>G uc001opv.3 + 6 517 c.311A>G c.(310-312)TAT>TGT p.Y104C CTTN_uc001opu.2_Missense_Mutation_p.Y104C|CTTN_uc001opw.3_Missense_Mutation_p.Y104C NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 104 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) GGCCACGAATATCAGTCGAAA 0.547 34 92 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73753101 73753101 + Silent SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:73753101G>C uc001ouu.2 - 29 5885 c.5658C>G c.(5656-5658)CTC>CTG p.L1886L C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1886 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AGCCTCACCTGAGAGAAGTCA 0.488 3 108 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76922973 76922973 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:76922973C>T uc001oyb.2 + 46 6617 c.6345C>T c.(6343-6345)TTC>TTT p.F2115F MYO7A_uc001oyc.2_Silent_p.F2077F|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 2115 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CAGCCTTCTTCGAGGTGAAGG 0.557 3 58 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107299903 107299903 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:107299903T>A uc010rvp.1 - 8 1085 c.1055A>T c.(1054-1056)AAC>ATC p.N352I CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 352 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTGCCTTGGGTTAGATTCTCT 0.358 59 117 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120998686 120998686 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:120998686C>A uc010rzo.1 + 8 2000 c.2000C>A c.(1999-2001)GCC>GAC p.A667D NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 667 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTCTTCTGGGCCACGGCCAAC 0.642 5 98 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676802 123676802 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:123676802C>T uc010rzz.1 - 1 256 c.256G>A c.(256-258)GAA>AAA p.E86K NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GTTTTCTCTTCTCCTAGGAGG 0.433 13 139 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 416829 416829 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:416829G>A uc001qif.1 - 23 4084 c.3721C>T c.(3721-3723)CCT>TCT p.P1241S KDM5A_uc001qie.1_Missense_Mutation_p.P1241S NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1241 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TCTCCTTCAGGCAACCGTACG 0.532 T NUP98 AML 91 105 --- --- --- --- PASS PRH2 5555 broad.mit.edu 37 12 11082904 11082904 + Splice_Site SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:11082904G>A uc009zhr.2 + 2 138 c.100_splice c.e2+1 p.D34_splice PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Splice_Site_p.D34_splice|PRH2_uc001qzi.3_Splice_Site_p.D34_splice NM_001110213 NP_001103683 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 extracellular space protein binding 0 GTAATATCAGGTAAATCCCAA 0.383 69 132 --- --- --- --- PASS SPRYD3 84926 broad.mit.edu 37 12 53473103 53473103 + Silent SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:53473103C>G uc001sbt.1 - 1 36 c.15G>C c.(13-15)CGG>CGC p.R5R SPRYD3_uc010snw.1_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 5 central_nervous_system(1) 1 ACCGGGGCCGCCGCGTCCTCC 0.716 10 4 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54912482 54912482 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:54912482C>A uc001sgc.3 + 14 1465 c.1386C>A c.(1384-1386)TTC>TTA p.F462L NCKAP1L_uc010sox.1_Missense_Mutation_p.F4L|NCKAP1L_uc010soy.1_Missense_Mutation_p.F412L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 462 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGTCCTCATTCGTCAGTATCC 0.473 89 75 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77220766 77220766 + Missense_Mutation SNP G C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:77220766G>C uc001syk.1 + 9 1139 c.976G>C c.(976-978)GAT>CAT p.D326H ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 326 Helical; (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 CCTAAATATTGATTCTTGGCT 0.338 10 170 --- --- --- --- PASS SLC6A15 55117 broad.mit.edu 37 12 85257356 85257356 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:85257356C>A uc001szv.2 - 11 2173 c.1680G>T c.(1678-1680)ATG>ATT p.M560I SLC6A15_uc010sul.1_Missense_Mutation_p.M453I|SLC6A15_uc001szw.1_Missense_Mutation_p.M268I NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 560 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 CAAAGCCCAGCATATCTTTTA 0.289 91 74 --- --- --- --- PASS FAM71C 196472 broad.mit.edu 37 12 100042517 100042517 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:100042517G>A uc001tgn.2 + 1 987 c.565G>A c.(565-567)GGG>AGG p.G189R ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 189 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) TATCCTAGCTGGGAACACATT 0.512 15 40 --- --- --- --- PASS TCHP 84260 broad.mit.edu 37 12 110340868 110340868 + Nonsense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:110340868C>T uc001tpn.2 + 2 190 c.37C>T c.(37-39)CAG>TAG p.Q13* TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Nonsense_Mutation_p.Q13* NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 13 Potential. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 CTGGTGCAGCCAGCAGCGCCT 0.607 20 89 --- --- --- --- PASS ABCB9 23457 broad.mit.edu 37 12 123444664 123444664 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr12:123444664T>A uc001udm.3 - 2 429 c.119A>T c.(118-120)CAC>CTC p.H40L ABCB9_uc009zxr.2_Missense_Mutation_p.H40L|ABCB9_uc001udo.3_Missense_Mutation_p.H40L|ABCB9_uc010taj.1_Missense_Mutation_p.H40L|ABCB9_uc001udp.2_Missense_Mutation_p.H40L|ABCB9_uc001udq.2_5'UTR|ABCB9_uc001udr.2_Missense_Mutation_p.H40L NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 40 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GATGTTGAAGTGGCGGATGTC 0.597 24 106 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26343289 26343289 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr13:26343289G>T uc001uqk.2 + 26 2632 c.2490G>T c.(2488-2490)CAG>CAT p.Q830H ATP8A2_uc010tdi.1_Missense_Mutation_p.Q790H|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.Q380H NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 790 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGATGATCCAGACAGCCCACG 0.592 5 185 --- --- --- --- PASS STARD13 90627 broad.mit.edu 37 13 33704002 33704002 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr13:33704002G>T uc001uuw.2 - 5 938 c.812C>A c.(811-813)GCC>GAC p.A271D STARD13_uc001uuu.2_Missense_Mutation_p.A263D|STARD13_uc001uuv.2_Missense_Mutation_p.A153D|STARD13_uc001uux.2_Missense_Mutation_p.A236D|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.A256D NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 271 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CCTCCCGTGGGCTCCCTTCCC 0.577 73 134 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60566683 60566683 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr13:60566683G>A uc001vht.2 - 10 1268 c.1049C>T c.(1048-1050)ACA>ATA p.T350I DIAPH3_uc001vhu.2_Missense_Mutation_p.T87I|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.T339I|DIAPH3_uc010aed.1_Missense_Mutation_p.T304I|DIAPH3_uc010aee.1_Missense_Mutation_p.T280I NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 350 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATCAGGAGATGTAACCAGGGC 0.403 9 67 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612368 20612368 + Silent SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:20612368A>T uc010tla.1 + 1 474 c.474A>T c.(472-474)GTA>GTT p.V158V NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATTCCATTGTACAAGTAGCCC 0.488 115 262 --- --- --- --- PASS OR11G2 390439 broad.mit.edu 37 14 20665821 20665821 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:20665821A>G uc010tlb.1 + 1 327 c.327A>G c.(325-327)ATA>ATG p.I109M NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 109 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TCTTGGAGATATGTTATGTCA 0.522 44 94 --- --- --- --- PASS RNASE3 6037 broad.mit.edu 37 14 21360032 21360032 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:21360032C>A uc001vyj.2 + 2 241 c.187C>A c.(187-189)CGT>AGT p.R63S NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 63 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) TTATCGATGGCGTTGCAAAAA 0.438 126 145 --- --- --- --- PASS TOX4 9878 broad.mit.edu 37 14 21960829 21960829 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:21960829G>A uc001waz.2 + 7 1157 c.1054G>A c.(1054-1056)GCA>ACA p.A352T TOX4_uc001way.2_Missense_Mutation_p.A222T|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.A329T|TOX4_uc010tlv.1_Missense_Mutation_p.A222T NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 352 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) ATCCTATGTGGCAAACCAGGC 0.488 5 326 --- --- --- --- PASS LRP10 26020 broad.mit.edu 37 14 23342656 23342656 + Splice_Site SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:23342656G>T uc001whd.2 + 3 768 c.215_splice c.e3+1 p.R72_splice LRP10_uc001whe.2_5'Flank NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TCACCATCAGGTGAGAAGCAG 0.522 36 75 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24524479 24524479 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:24524479C>A uc001wlj.2 + 8 722 c.565C>A c.(565-567)CGG>AGG p.R189R NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 189 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) TGAAGATAACCGGGAGTTCAA 0.552 42 315 --- --- --- --- PASS JKAMP 51528 broad.mit.edu 37 14 59970688 59970688 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:59970688G>T uc001xei.3 + 7 1378 c.876G>T c.(874-876)TTG>TTT p.L292F JKAMP_uc001xef.3_Missense_Mutation_p.L278F|JKAMP_uc001xeh.3_Missense_Mutation_p.L272F|JKAMP_uc001xeg.3_Missense_Mutation_p.L286F|JKAMP_uc010try.1_Missense_Mutation_p.L215F|JKAMP_uc001xej.3_Missense_Mutation_p.L215F NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN JNK1-associated membrane protein isoform 2 293 Helical; (Potential). ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1) 1 AGCAAGATTTGCCCCTTTTGG 0.418 75 132 --- --- --- --- PASS PSEN1 5663 broad.mit.edu 37 14 73659524 73659524 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:73659524C>T uc001xnr.2 + 7 1005 c.721C>T c.(721-723)CTC>TTC p.L241F PSEN1_uc001xnv.2_Missense_Mutation_p.L237F|PSEN1_uc010ark.2_Missense_Mutation_p.L237F|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 241 Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TATCAAGTACCTCCCTGAATG 0.468 155 182 --- --- --- --- PASS TMEM90A 646658 broad.mit.edu 37 14 74874667 74874667 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:74874667T>C uc001xpx.2 - 3 691 c.443A>G c.(442-444)GAA>GGA p.E148G NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 148 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) GTCTTCACTTTCACTCTCCGT 0.488 7 76 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 78710064 78710064 + RNA SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:78710064G>T uc001xum.1 + 2 c.1421G>T Q9Y4C0 NRX3A_HUMAN Homo sapiens mRNA for KIAA0743 protein, partial cds. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTGTGAAAATGGTGGGATCTG 0.587 45 124 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92922946 92922946 + Missense_Mutation SNP G A A rs138624260 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:92922946G>A uc001yak.2 + 12 1222 c.1198G>A c.(1198-1200)GTG>ATG p.V400M SLC24A4_uc001yai.2_Missense_Mutation_p.V353M|SLC24A4_uc010twm.1_Missense_Mutation_p.V398M|SLC24A4_uc001yaj.2_Missense_Mutation_p.V381M|SLC24A4_uc010auj.2_Missense_Mutation_p.V289M|SLC24A4_uc010twn.1_Missense_Mutation_p.V173M|SLC24A4_uc001yan.2_Missense_Mutation_p.V111M NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 417 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCCCTTCTCCGTGCCGGGTGA 0.622 OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 47 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105406002 105406002 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr14:105406002G>T uc010axc.1 - 7 15906 c.15786C>A c.(15784-15786)AGC>AGA p.S5262R AHNAK2_uc001ypx.2_Missense_Mutation_p.S5162R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5262 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGATGATTTGCTCTCAGAAG 0.502 153 291 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25940142 25940142 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:25940142C>T uc010ayu.2 - 14 3018 c.2912G>A c.(2911-2913)AGC>AAC p.S971N NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 971 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GATCACGAGGCTGGGTCTGCG 0.602 44 87 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28377918 28377918 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:28377918C>T uc001zbj.2 - 80 12395 c.12289G>A c.(12289-12291)GCT>ACT p.A4097T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4097 RCC1 15. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCGCCAGCAGCAACATCGACC 0.557 7 192 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48058151 48058151 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:48058151A>G uc010bek.2 + 14 1873 c.1513A>G c.(1513-1515)AGC>GGC p.S505G SEMA6D_uc001zvw.2_Missense_Mutation_p.S505G|SEMA6D_uc001zvy.2_Missense_Mutation_p.S505G|SEMA6D_uc001zvz.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwa.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwb.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwc.2_Missense_Mutation_p.S505G NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 505 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGCGTTCTCTAGCTGCATTAT 0.438 73 141 --- --- --- --- PASS TRPM7 54822 broad.mit.edu 37 15 50904852 50904852 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:50904852T>C uc001zyt.3 - 16 2209 c.1945A>G c.(1945-1947)ATG>GTG p.M649V TRPM7_uc010bew.1_Missense_Mutation_p.M649V|TRPM7_uc001zyu.2_Missense_Mutation_p.M207V NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 649 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GCTTTAGCCATTGATTCTTCA 0.403 74 112 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54307273 54307273 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:54307273G>A uc002ack.2 + 1 2173 c.2173G>A c.(2173-2175)GGC>AGC p.G725S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 725 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) TCCATGCCCTGGCTTGGATAA 0.418 22 30 --- --- --- --- PASS RPL4 6124 broad.mit.edu 37 15 66793358 66793358 + Silent SNP T C C rs143921047 byFrequency TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:66793358T>C uc002apv.2 - 7 818 c.762A>G c.(760-762)GAA>GAG p.E254E RPL4_uc010bhr.2_Silent_p.E160E|RPL4_uc002apw.2_Silent_p.E160E|RPL4_uc002apx.2_Silent_p.E160E|RPL4_uc010ujq.1_3'UTR NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 254 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 GGAAAGCACTTTCAGTCCAAA 0.423 59 129 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79058102 79058102 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:79058102T>C uc002bej.3 - 19 4362 c.4151A>G c.(4150-4152)AAC>AGC p.N1384S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1384 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TCTGTGGCTGTTGGCGGGGCT 0.692 3 61 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89401084 89401084 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:89401084C>T uc010upo.1 + 12 5642 c.5268C>T c.(5266-5268)AGC>AGT p.S1756S ACAN_uc010upp.1_Silent_p.S1756S|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1756 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGAGCTTAGCGGGCTGTCCT 0.493 8 213 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90347586 90347586 + Silent SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr15:90347586C>T uc002bop.3 - 6 1369 c.1077G>A c.(1075-1077)CTG>CTA p.L359L NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 359 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGTAGGTCACCAGTCCCCAGT 0.627 65 89 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1391391 1391391 + Missense_Mutation SNP A C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr16:1391391A>C uc002clk.1 + 8 737 c.737A>C c.(736-738)AAG>ACG p.K246T BAIAP3_uc002clj.2_Missense_Mutation_p.K228T|BAIAP3_uc010uuz.1_Missense_Mutation_p.K211T|BAIAP3_uc010uva.1_Missense_Mutation_p.K183T|BAIAP3_uc010uvb.1_Missense_Mutation_p.K263T|BAIAP3_uc010uvc.1_Missense_Mutation_p.K211T NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 246 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) GGCTTCCGCAAGGGCAGCAAG 0.657 50 78 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49557637 49557637 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr16:49557637G>T uc002efs.2 - 8 4021 c.3723C>A c.(3721-3723)GCC>GCA p.A1241A ZNF423_uc010vgn.1_Silent_p.A1124A NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1241 C2H2-type 29. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCAACTTGTTGGCCTGGACGA 0.602 8 54 --- --- --- --- PASS TRPV3 162514 broad.mit.edu 37 17 3417227 3417227 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:3417227G>A uc002fvt.1 - 18 2679 c.2357C>T c.(2356-2358)CCG>CTG p.P786L SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P770L|TRPV3_uc010vri.1_Missense_Mutation_p.P741L|TRPV3_uc010vrj.1_Missense_Mutation_p.P770L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P771L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P787L NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 786 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CGAGGTTTCCGGGAATTCCTC 0.488 69 96 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C A A rs28934576 by1000genomes TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:7577120C>A uc002gim.2 - 8 1012 c.818G>T c.(817-819)CGT>CTT p.R273L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 37 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:7578469C>A uc002gim.2 - 5 655 c.461G>T c.(460-462)GGC>GTC p.G154V TP53_uc002gig.1_Missense_Mutation_p.G154V|TP53_uc002gih.2_Missense_Mutation_p.G154V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G22V|TP53_uc010cng.1_Missense_Mutation_p.G22V|TP53_uc002gii.1_Missense_Mutation_p.G22V|TP53_uc010cnh.1_Missense_Mutation_p.G154V|TP53_uc010cni.1_Missense_Mutation_p.G154V|TP53_uc002gij.2_Missense_Mutation_p.G154V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G61V|TP53_uc002gio.2_Missense_Mutation_p.G22V|TP53_uc010vug.1_Missense_Mutation_p.G115V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 154 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; 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.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(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) GACGCGGGTGCCGGGCGGGGG 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 55 76 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9823009 9823009 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:9823009C>T uc002gmg.1 - 12 1313 c.1152G>A c.(1150-1152)ATG>ATA p.M384I GAS7_uc010vvc.1_Missense_Mutation_p.M198I|GAS7_uc002gmh.1_Missense_Mutation_p.M244I|GAS7_uc010vvd.1_Missense_Mutation_p.M336I|GAS7_uc002gmi.2_Missense_Mutation_p.M320I|GAS7_uc002gmj.1_Missense_Mutation_p.M324I|GAS7_uc010coh.1_Missense_Mutation_p.M324I NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 384 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 CCACACAGCGCATGAGGTCGT 0.547 T MLL AML* 20 141 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10433387 10433387 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:10433387G>T uc010coi.2 - 23 2830 c.2702C>A c.(2701-2703)GCC>GAC p.A901D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A901D|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 901 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CAAGCCTTCGGCTTCCTTAAG 0.398 121 155 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11583141 11583141 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:11583141G>A uc002gne.2 + 18 3489 c.3421G>A c.(3421-3423)GAT>AAT p.D1141N DNAH9_uc010coo.2_Missense_Mutation_p.D435N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1141 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGAAAAAGGAGATTTCCAAGG 0.423 8 168 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29556400 29556400 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:29556400C>G uc002hgg.2 + 21 3100 c.2767C>G c.(2767-2769)CTA>GTA p.L923V NF1_uc002hgh.2_Missense_Mutation_p.L923V|NF1_uc010csn.1_Missense_Mutation_p.L783V|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 923 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTGGTGGGTCTAGAATTGAG 0.403 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 118 172 --- --- --- --- PASS AARSD1 80755 broad.mit.edu 37 17 41113248 41113248 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:41113248C>G uc002icc.2 - 3 295 c.292G>C c.(292-294)GAT>CAT p.D98H AARSD1_uc002icd.2_Missense_Mutation_p.D211H|AARSD1_uc002ice.2_Missense_Mutation_p.D181H|AARSD1_uc002icf.2_Missense_Mutation_p.D272H|AARSD1_uc010whg.1_Missense_Mutation_p.D272H|AARSD1_uc010cyu.1_Missense_Mutation_p.D98H NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 98 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CGCTCCCAATCTACCCGGACC 0.498 175 301 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901248 51901248 + Missense_Mutation SNP A T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:51901248A>T uc002iua.2 + 1 1010 c.854A>T c.(853-855)CAG>CTG p.Q285L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 285 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TTCACCGCCCAGCCACTGGTG 0.567 38 66 --- --- --- --- PASS TLK2 11011 broad.mit.edu 37 17 60642414 60642414 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:60642414G>A uc010ddp.2 + 11 1152 c.884G>A c.(883-885)AGA>AAA p.R295K TLK2_uc002izx.3_Missense_Mutation_p.R143K|TLK2_uc002izz.3_Missense_Mutation_p.R295K|TLK2_uc002jaa.3_Missense_Mutation_p.R263K|TLK2_uc010wpd.1_Missense_Mutation_p.R263K NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 295 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 GACCGCTTGAGACTGGGCCAC 0.408 74 122 --- --- --- --- PASS CD79B 974 broad.mit.edu 37 17 62007148 62007148 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:62007148G>T uc002jdq.1 - 4 614 c.531C>A c.(529-531)ATC>ATA p.I177I CD79B_uc002jdo.1_Silent_p.I151I|CD79B_uc002jdp.1_Silent_p.I178I|CD79B_uc002jdr.1_Silent_p.I73I NM_000626 NP_000617 P40259 CD79B_HUMAN CD79B antigen isoform 1 precursor 177 Helical; (Potential). cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity 0 GCAGCAGGAAGATAGGCACGA 0.572 Mis|O DLBCL 31 43 --- --- --- --- PASS CDC42EP4 23580 broad.mit.edu 37 17 71281750 71281750 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:71281750C>A uc002jjn.2 - 2 1037 c.890G>T c.(889-891)CGC>CTC p.R297L CDC42EP4_uc002jjo.2_Missense_Mutation_p.R297L|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R227L NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 297 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GCCCATGCTGCGGGCTGAGCC 0.711 12 36 --- --- --- --- PASS CANT1 124583 broad.mit.edu 37 17 76989728 76989728 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr17:76989728G>T uc002jwn.2 - 6 1549 c.1110C>A c.(1108-1110)GTC>GTA p.V370V CANT1_uc002jwk.2_Silent_p.V370V|CANT1_uc002jwj.2_Silent_p.V370V|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 370 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) TGTAGGAGGCGACTCTGCCGC 0.567 T ETV4 prostate OREG0024788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 75 --- --- --- --- PASS MC5R 4161 broad.mit.edu 37 18 13826522 13826522 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr18:13826522C>T uc010xaf.1 + 1 758 c.758C>T c.(757-759)CCG>CTG p.P253L NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 253 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGCTGGGCCCCGTTCTTCCTT 0.572 13 233 --- --- --- --- PASS DSC2 1824 broad.mit.edu 37 18 28659823 28659823 + Silent SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr18:28659823T>C uc002kwl.3 - 11 2107 c.1653A>G c.(1651-1653)GCA>GCG p.A551A DSC2_uc002kwk.3_Silent_p.A551A NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 551 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CTTGGTCTGATGCAAGGACTG 0.368 113 215 --- --- --- --- PASS LIPG 9388 broad.mit.edu 37 18 47107935 47107935 + Missense_Mutation SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr18:47107935G>A uc002ldv.2 + 6 1196 c.944G>A c.(943-945)CGT>CAT p.R315H LIPG_uc002ldu.1_Missense_Mutation_p.R315H|LIPG_uc010xdh.1_Missense_Mutation_p.R241H NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 315 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CGCAAGAACCGTTGTAATAGC 0.478 85 118 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50278668 50278668 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr18:50278668G>A uc002lfe.1 + 2 923 c.336G>A c.(334-336)GAG>GAA p.E112E DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 112 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCCAGATGAGGGACTTTACC 0.413 47 109 --- --- --- --- PASS SERPINB8 5271 broad.mit.edu 37 18 61654442 61654442 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr18:61654442C>A uc002ljv.2 + 7 1224 c.1055C>A c.(1054-1056)CCT>CAT p.P352H SERPINB8_uc002lju.2_Missense_Mutation_p.P352H|SERPINB8_uc010xex.1_Missense_Mutation_p.P170H NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 352 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) GCAGACCACCCTTTTCTTTTC 0.517 19 229 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602326 10602326 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:10602326C>A uc002moq.1 - 3 1408 c.1252G>T c.(1252-1254)GTG>TTG p.V418L KEAP1_uc002mop.1_Missense_Mutation_p.V136L|KEAP1_uc002mor.1_Missense_Mutation_p.V418L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 418 Kelch 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.V418M(1) 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) ATGACCCCCACCCCGATGCGG 0.662 12 28 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14273821 14273821 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:14273821G>A uc010xnn.1 - 6 1103 c.807C>T c.(805-807)GAC>GAT p.D269D LPHN1_uc010xno.1_Silent_p.D264D|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 269 Olfactomedin-like.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CCACCGCCAGGTCAATGTCGG 0.617 30 42 --- --- --- --- PASS DNAJB1 3337 broad.mit.edu 37 19 14627629 14627629 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:14627629G>A uc002myz.1 - 2 481 c.441C>T c.(439-441)GGC>GGT p.G147G DNAJB1_uc010xnr.1_Silent_p.G47G NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 147 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) AGCGGGAGCGGCCAAAGTTCA 0.582 5 203 --- --- --- --- PASS ZNF486 90649 broad.mit.edu 37 19 20278150 20278150 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:20278150C>A uc002nou.2 + 1 68 c.11C>A c.(10-12)CCC>CAC p.P4H NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGCCGGGACCCCTTAGAAGC 0.592 17 45 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936608 30936608 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:30936608C>G uc002nsu.1 + 2 2277 c.2139C>G c.(2137-2139)GAC>GAG p.D713E ZNF536_uc010edd.1_Missense_Mutation_p.D713E NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 713 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCCAGGAGGACAGCCCGCACC 0.677 17 47 --- --- --- --- PASS GPI 2821 broad.mit.edu 37 19 34884949 34884949 + Missense_Mutation SNP G A A rs137853583 TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:34884949G>A uc002nvg.1 + 12 1143 c.1040G>A c.(1039-1041)CGC>CAC p.R347H GPI_uc002nvf.2_Missense_Mutation_p.R386H|GPI_uc010xrv.1_Missense_Mutation_p.R358H|GPI_uc010xrw.1_Missense_Mutation_p.R319H|GPI_uc010edl.1_Missense_Mutation_p.R347H|GPI_uc002nvi.1_Missense_Mutation_p.R10H NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 347 R -> H (in HA-GPID).|R -> C (in HA-GPID; GPI Mount Scopus). angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) TACCTGCACCGCTTTGCTGCG 0.582 9 47 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36357069 36357069 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:36357069A>G uc002ocb.3 + 15 2014 c.1802A>G c.(1801-1803)AAC>AGC p.N601S KIRREL2_uc002obz.3_Missense_Mutation_p.N601S|KIRREL2_uc002oca.3_Missense_Mutation_p.N551S|KIRREL2_uc002occ.3_Missense_Mutation_p.N548S|KIRREL2_uc002ocd.3_Missense_Mutation_p.N563S|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 601 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCCAACCAACGGTTACTAC 0.592 82 183 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41627406 41627406 + Silent SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:41627406C>A uc002opu.1 + 5 584 c.528C>A c.(526-528)TCC>TCA p.S176S CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.S176S|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 176 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GCTCAGTGTCCAACATTATCT 0.522 70 151 --- --- --- --- PASS VRK3 51231 broad.mit.edu 37 19 50512642 50512642 + Missense_Mutation SNP C G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:50512642C>G uc002prg.2 - 4 238 c.140G>C c.(139-141)GGC>GCC p.G47A VRK3_uc002prh.1_Missense_Mutation_p.G47A|VRK3_uc002pri.1_Intron|VRK3_uc010ens.2_Missense_Mutation_p.G47A|VRK3_uc010ybl.1_Intron|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Intron|VRK3_uc002prk.1_Missense_Mutation_p.G47A|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.G47A|VRK3_uc010ybn.1_Missense_Mutation_p.G47A NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 47 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) TCTCTTTGAGCCTAAAGAAAG 0.498 66 115 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55399650 55399650 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:55399650T>A uc002qhr.1 + 4 835 c.638T>A c.(637-639)CTT>CAT p.L213H FCAR_uc002qhq.2_Missense_Mutation_p.L213H|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Missense_Mutation_p.L201H|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Missense_Mutation_p.L104H NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 213 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) GCCTTGGAGCTTGTGGTCACA 0.582 18 37 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286632 57286632 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:57286632G>A uc002qnr.2 - 11 1390 c.1008C>T c.(1006-1008)ACC>ACT p.T336T uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.T132T|ZIM2_uc010ygr.1_Silent_p.T132T|ZIM2_uc002qnq.2_Silent_p.T336T|ZIM2_uc010etp.2_Silent_p.T336T|ZIM2_uc010ygs.1_Silent_p.T336T NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 336 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GCGTACTAAAGGTTCGTTTGC 0.473 64 83 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640572 57640572 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr19:57640572G>T uc002qny.2 + 4 885 c.529G>T c.(529-531)GTA>TTA p.V177L NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 177 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCATCTGATGTACAGACAAA 0.368 81 117 --- --- --- --- PASS NOP56 10528 broad.mit.edu 37 20 2638918 2638918 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:2638918A>G uc002wgh.2 + 12 1816 c.1763A>G c.(1762-1764)CAT>CGT p.H588R NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.H422R|NOP56_uc002wgm.1_3'UTR NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 588 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 AAAAAGTTCCATAAAGCATCC 0.517 5 10 --- --- --- --- PASS LRRN4 164312 broad.mit.edu 37 20 6022379 6022379 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:6022379G>T uc002wmo.2 - 5 1736 c.1512C>A c.(1510-1512)CAC>CAA p.H504Q NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 504 Extracellular (Potential). integral to membrane skin(3) 3 GGGGTGTGGCGTGTGTCCTCT 0.647 85 244 --- --- --- --- PASS NXT1 29107 broad.mit.edu 37 20 23334882 23334882 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:23334882C>A uc002wsx.1 + 2 591 c.204C>A c.(202-204)AGC>AGA p.S68R NM_013248 NP_037380 Q9UKK6 NXT1_HUMAN NTF2-like export factor 1 68 NTF2. cytoplasm|nuclear pore ovary(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGCCTTCCAGCGAGTTCCAAA 0.507 19 189 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24523765 24523765 + Missense_Mutation SNP T A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:24523765T>A uc002wtw.1 + 2 665 c.32T>A c.(31-33)CTG>CAG p.L11Q NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 11 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 AAGAGCATGCTGGTGCACAGT 0.507 18 205 --- --- --- --- PASS ACSS1 84532 broad.mit.edu 37 20 25028754 25028754 + Missense_Mutation SNP T G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:25028754T>G uc002wub.2 - 2 1276 c.398A>C c.(397-399)GAT>GCT p.D133A ACSS1_uc002wuc.2_Missense_Mutation_p.D133A|ACSS1_uc010gdc.2_Missense_Mutation_p.D133A NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 133 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCCAGGCTCATCGCGCTCCCA 0.562 25 43 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48523097 48523097 + Missense_Mutation SNP A C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:48523097A>C uc010gie.2 - 3 972 c.622T>G c.(622-624)TCG>GCG p.S208A SPATA2_uc002xuw.2_Missense_Mutation_p.S208A|SPATA2_uc010zyn.1_Missense_Mutation_p.S71A NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 208 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGGGCGTCCGAGCAGCCGCGC 0.652 25 37 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57769016 57769016 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:57769016G>T uc002yan.2 + 1 2942 c.2942G>T c.(2941-2943)GGG>GTG p.G981V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 981 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCATTTGTTGGGTCAGGACTG 0.642 61 82 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62065210 62065210 + Missense_Mutation SNP T C C TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr20:62065210T>C uc002yey.1 - 8 1247 c.1070A>G c.(1069-1071)CAC>CGC p.H357R KCNQ2_uc002yez.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfa.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfb.1_Missense_Mutation_p.H357R|KCNQ2_uc011aax.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfc.1_Missense_Mutation_p.H357R NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 357 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCACGTGGAGTGCAGGTCTGT 0.622 57 88 --- --- --- --- PASS SLC25A18 83733 broad.mit.edu 37 22 18065400 18065400 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr22:18065400C>T uc002zmp.1 + 6 765 c.271C>T c.(271-273)CGG>TGG p.R91W SLC25A18_uc010gqx.2_Missense_Mutation_p.R91W|SLC25A18_uc002zmq.1_Missense_Mutation_p.R91W NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 91 Solcar 1. integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CTTTTTCCGGCGGCTGCTCAT 0.547 5 24 --- --- --- --- PASS CCDC116 164592 broad.mit.edu 37 22 21989177 21989177 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr22:21989177G>A uc002zve.2 + 4 918 c.825G>A c.(823-825)GAG>GAA p.E275E CCDC116_uc011aih.1_Silent_p.E275E NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 275 ovary(1)|skin(1) 2 Colorectal(54;0.105) TCAATAAGGAGATCAAGTCAT 0.602 40 232 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23114943 23114943 + RNA SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr22:23114943G>T uc011aim.1 + 237 c.11560G>T Parts of antibodies, mostly variable regions. 0 GATAGCAACCGGCCCTCAGGG 0.562 44 24 --- --- --- --- PASS C22orf30 253143 broad.mit.edu 37 22 32108241 32108241 + Missense_Mutation SNP C T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr22:32108241C>T uc003alp.3 - 4 5777 c.5584G>A c.(5584-5586)GGG>AGG p.G1862R C22orf30_uc003alo.1_Missense_Mutation_p.G1661R|C22orf30_uc010gwj.1_Missense_Mutation_p.G1661R NM_173566 NP_775837 Q5THK1 PR14L_HUMAN hypothetical protein LOC253143 1862 0 GACCGTAACCCTTTCAGGCCC 0.532 176 103 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42018068 42018068 + Silent SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr22:42018068A>G uc003bao.1 + 2 130 c.60A>G c.(58-60)CAA>CAG p.Q20Q PPPDE2_uc003ban.1_5'Flank|PPPDE2_uc011apb.1_5'Flank|XRCC6_uc003bap.1_Silent_p.Q20Q|XRCC6_uc011apc.1_Missense_Mutation_p.K8R|XRCC6_uc003baq.1_Silent_p.Q20Q|XRCC6_uc003bar.1_Silent_p.Q20Q|XRCC6_uc003bas.1_Missense_Mutation_p.K8R NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 20 Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation). Q -> D (in Ref. 8; AA sequence). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 AGGAAGAACAAGAAGAGAACC 0.478 Direct_reversal_of_damage|NHEJ 30 70 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3242456 3242456 + Missense_Mutation SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:3242456G>T uc004crg.3 - 5 1427 c.1270C>A c.(1270-1272)CAG>AAG p.Q424K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 424 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAAGAATCTGGGCTCTCACA 0.512 68 35 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31089811 31089811 + Missense_Mutation SNP C A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:31089811C>A uc004dcl.1 - 1 363 c.260G>T c.(259-261)AGG>ATG p.R87M NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 87 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 CTCTGGCTTCCTGATATCGTG 0.602 56 25 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138680615 138680615 + Missense_Mutation SNP A G G TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:138680615A>G uc004fau.2 - 17 2173 c.1879T>C c.(1879-1881)TAT>CAT p.Y627H MCF2_uc004fav.2_Missense_Mutation_p.Y643H|MCF2_uc011mwl.1_Missense_Mutation_p.Y604H|MCF2_uc010nsh.1_Missense_Mutation_p.Y627H|MCF2_uc011mwm.1_Missense_Mutation_p.Y588H|MCF2_uc011mwn.1_Missense_Mutation_p.Y772H|MCF2_uc004faw.2_Missense_Mutation_p.Y687H|MCF2_uc011mwo.1_Missense_Mutation_p.Y703H NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 627 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTGAGTAAATAGGAATCCAGT 0.284 32 11 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142716936 142716936 + Silent SNP G T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:142716936G>T uc004fbx.2 - 2 2365 c.1989C>A c.(1987-1989)TCC>TCA p.S663S SLITRK4_uc004fby.2_Silent_p.S663S NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 663 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GCAGCTGCATGGAGCCACAGT 0.458 194 55 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967583 142967583 + Silent SNP G A A TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:142967583G>A uc004fca.2 + 1 411 c.381G>A c.(379-381)GTG>GTA p.V127V NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 127 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) ATGATGTAGTGGAGCAGTGGA 0.448 118 16 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27094433 27094440 + Frame_Shift_Del DEL ACCTCTGG - - TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr1:27094433_27094440delACCTCTGG uc001bmv.1 + 11 3514_3521 c.3141_3148delACCTCTGG c.(3139-3150)AAACCTCTGGACfs p.K1047fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.K1047fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.K1047fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.K664fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1047_1050 ARID. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGGTAGGAAACCTCTGGACCTCTATCG 0.553 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 77 39 --- --- --- --- KCTD16 57528 broad.mit.edu 37 5 143586805 143586806 + Frame_Shift_Ins INS - T T TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr5:143586805_143586806insT uc003lnm.1 + 3 1157_1158 c.528_529insT c.(526-531)TTGGGCfs p.L176fs KCTD16_uc003lnn.1_Frame_Shift_Ins_p.L176fs NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 176_177 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CCTGCACCTTGGGCAGAGAGGG 0.530 39 60 --- --- --- --- MOGAT2 80168 broad.mit.edu 37 11 75438533 75438533 + Frame_Shift_Del DEL C - - TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chr11:75438533delC uc010rru.1 + 3 324 c.324delC c.(322-324)CACfs p.H108fs MOGAT2_uc001oww.1_Frame_Shift_Del_p.H108fs|MOGAT2_uc010rrv.1_Frame_Shift_Del_p.H26fs NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 108 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CGGGCTTCCACCCCCATGGAG 0.527 117 60 --- --- --- --- CTPS2 56474 broad.mit.edu 37 X 16711326 16711354 + Splice_Site DEL TTTGTTCTCCGGTAGCACTGAGCTGAAAA - - TCGA-51-4081-01A-01D-1458-08 TCGA-51-4081-11A-01D-1458-08 Somatic Phase_I Capture Illumina GAIIx 1492c429-1041-4d86-9358-c9b9babd1401 fd992c39-3a26-4982-8a8c-13fef6166372 g.chrX:16711326_16711354delTTTGTTCTCCGGTAGCACTGAGCTGAAAA uc004cxk.2 - 6 1300 c.556_splice c.e6-1 p.L186_splice CTPS2_uc004cxl.2_Splice_Site_p.L186_splice|CTPS2_uc004cxm.2_Splice_Site_p.L186_splice NM_001144002 NP_001137474 Q9NRF8 PYRG2_HUMAN cytidine triphosphate synthase II glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity ovary(1) 1 Hepatocellular(33;0.0997) GGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGT 0.485 18 23 --- --- --- ---