Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MRPL20 55052 broad.mit.edu 37 1 1342362 1342362 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:1342362G>A uc001afo.3 - 2 221 c.125C>T c.(124-126)GCG>GTG p.A42V MRPL20_uc010nyn.1_Missense_Mutation_p.A42V NM_017971 NP_060441 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 precursor 42 protein binding|rRNA binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGTTCTGACCGCCAACCTGTA 0.488 NA 6 422 0 0 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6521694 6521694 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:6521694G>A uc001ane.2 - 10 1142 c.1054C>T c.(1054-1056)CGC>TGC p.R352C TNFRSF25_uc001ana.2_Missense_Mutation_p.R169C|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R125C|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R315C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R307C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R361C NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 352 Death.|Cytoplasmic (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CCCAGCGTGCGCACGAACTCC 0.687 NA 8 35 0 0 0 0 MYCL1 4610 broad.mit.edu 37 1 40366778 40366778 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:40366778C>T uc001cer.1 - 2 546 c.329G>A c.(328-330)AGC>AAC p.S110N MYCL1_uc001ces.1_Missense_Mutation_p.S110N|MYCL1_uc001cet.1_Missense_Mutation_p.S110N NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 110 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAGCCGGTCGCTCACAGCTCT 0.726 NA A small cell lung 3 16 0 0 0 0 CRYZ 1429 broad.mit.edu 37 1 75172795 75172795 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:75172795G>A uc001dgk.2 - 8 1229 c.724C>T c.(724-726)CGA>TGA p.R242* CRYZ_uc001dgj.2_Nonsense_Mutation_p.R242*|CRYZ_uc001dgl.2_Intron|CRYZ_uc001dgm.2_Nonsense_Mutation_p.R105* NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 242 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) ACTATCACTCGTCCTCCATGT 0.274 NA 34 145 0 0 0 0 SNX7 51375 broad.mit.edu 37 1 99161197 99161197 + Missense_Mutation SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:99161197A>G uc010ouc.1 + 5 815 c.763A>G c.(763-765)AAC>GAC p.N255D SNX7_uc001dsa.2_Missense_Mutation_p.N191D|SNX7_uc010oud.1_Missense_Mutation_p.N200D NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 191 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) GGAAATGAATAACTTTATTGA 0.383 NA 23 113 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 3 171 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152187690 152187690 + Nonsense_Mutation SNP T T A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:152187690T>A uc001ezt.1 - 3 6491 c.6415A>T c.(6415-6417)AGA>TGA p.R2139* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2139 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGATCTAGAGCCGTGT 0.572 NA 17 699 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152191224 152191224 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:152191224C>T uc001ezt.1 - 3 2957 c.2881G>A c.(2881-2883)GGC>AGC p.G961S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 961 10 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTAGAGCCGTGTTGTTCG 0.537 NA 102 382 0 0 0 0 OR10T2 128360 broad.mit.edu 37 1 158368907 158368907 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:158368907G>A uc010pih.1 - 1 350 c.350C>T c.(349-351)GCT>GTT p.A117V NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TCCCATCACAGCAATGAGGAG 0.493 NA 4 155 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190423836 190423836 + Missense_Mutation SNP T T G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:190423836T>G uc001gse.1 - 2 417 c.185A>C c.(184-186)GAT>GCT p.D62A FAM5C_uc010pot.1_Missense_Mutation_p.I24L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 62 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GTCCACAAAATCTGTGTATTC 0.468 NA 18 64 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201012531 201012531 + Silent SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr1:201012531G>T uc001gvv.2 - 40 5153 c.4926C>A c.(4924-4926)GTC>GTA p.V1642V NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1642 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCCAAGAAGACAGGTGACT 0.542 NA OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 112 3.11e-16 3.57e-16 1 0 CDC123 8872 broad.mit.edu 37 10 12259436 12259436 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:12259436C>T uc001ill.2 + 6 694 c.410C>T c.(409-411)TCC>TTC p.S137F CDC123_uc001ilm.2_Missense_Mutation_p.S137F NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 137 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 TTCAAGAGTTCCGATTTCATC 0.368 NA 14 141 0 0 0 0 C10orf111 221060 broad.mit.edu 37 10 15138710 15138710 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:15138710C>T uc001inw.2 - 2 388 c.114G>A c.(112-114)AAG>AAA p.K38K RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank NM_153244 NP_694976 Q8N326 CJ111_HUMAN hypothetical protein LOC221060 38 integral to membrane 0 CTGCCTTTCTCTTTTCGGGCT 0.498 NA 36 268 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63852230 63852230 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:63852230C>T uc001jlt.1 + 10 3034 c.3008C>T c.(3007-3009)CCG>CTG p.P1003L NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1003 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) AAAATGAGCCCGCAGAACATT 0.552 NA 38 207 0 0 0 0 MYPN 84665 broad.mit.edu 37 10 69948722 69948722 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:69948722C>T uc001jnm.3 + 14 2949 c.2764C>T c.(2764-2766)CGT>TGT p.R922C MYPN_uc001jnn.3_Missense_Mutation_p.R647C|MYPN_uc001jno.3_Missense_Mutation_p.R922C|MYPN_uc009xpt.2_Missense_Mutation_p.R922C|MYPN_uc010qit.1_Missense_Mutation_p.R628C|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 922 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TCGCTTGGAACGTACTCCTGT 0.413 NA 15 63 0 0 0 0 ZCCHC24 219654 broad.mit.edu 37 10 81154151 81154151 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:81154151G>A uc001kak.2 - 3 680 c.493C>T c.(493-495)CGC>TGC p.R165C ZCCHC24_uc010qlr.1_Missense_Mutation_p.A105V|ZCCHC24_uc009xrw.2_RNA NM_153367 NP_699198 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 165 nucleic acid binding|zinc ion binding breast(1) 1 CCGAAGCAGCGCTTTTTGCCC 0.567 NA 42 174 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917661 97917661 + Nonsense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:97917661G>T uc001klp.2 + 6 2439 c.1582G>T c.(1582-1584)GAA>TAA p.E528* ZNF518A_uc001klo.1_5'UTR|ZNF518A_uc001klq.2_Nonsense_Mutation_p.E528*|ZNF518A_uc001klr.2_Nonsense_Mutation_p.E528* NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 528 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) AGCAAGTTCAGAAAAAGAAAT 0.323 NA 36 223 4.66e-17 5.38e-17 1 0 HMX3 340784 broad.mit.edu 37 10 124896943 124896943 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr10:124896943G>A uc010quc.1 + 2 770 c.770G>A c.(769-771)CGA>CAA p.R257Q NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 257 Homeobox. cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AGCTCGGAGCGAGCCGGCCTG 0.647 NA 12 65 0 0 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7670058 7670058 + Missense_Mutation SNP A A T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:7670058A>T uc001mfj.3 + 19 2213 c.1825A>T c.(1825-1827)AGG>TGG p.R609W PPFIBP2_uc010rbb.1_Missense_Mutation_p.R532W|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.R543W|PPFIBP2_uc010rbe.1_Missense_Mutation_p.R497W|PPFIBP2_uc001mfl.3_Missense_Mutation_p.R466W|PPFIBP2_uc009yfj.1_Missense_Mutation_p.R253W NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 609 SAM 1. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCCACTCCACAGGAAGAAGCT 0.448 NA 57 233 0 0 0 0 ELP4 26610 broad.mit.edu 37 11 31671745 31671745 + Silent SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:31671745A>G uc001mtb.2 + 9 1154 c.1119A>G c.(1117-1119)TTA>TTG p.L373L ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.L373L|ELP4_uc010rdz.1_Silent_p.L374L NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 373 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) CTTTTAAATTAAAAAGGAAGC 0.259 NA 16 69 0 0 0 0 LRP4 4038 broad.mit.edu 37 11 46903411 46903411 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:46903411G>A uc001ndn.3 - 20 2802 c.2656C>T c.(2656-2658)CGA>TGA p.R886* NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 886 Extracellular (Potential).|LDL-receptor class B 8. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) ATGCCAGCTCGTTCAATCTTG 0.507 NA 25 85 0 0 0 0 KDELC2 143888 broad.mit.edu 37 11 108350193 108350193 + Silent SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr11:108350193G>T uc001pkj.2 - 6 1194 c.1128C>A c.(1126-1128)ACC>ACA p.T376T KDELC2_uc001pki.2_Silent_p.T320T NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 376 endoplasmic reticulum lumen p.T376T(1) ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) AAGCAGCCACGGTCCCATCCA 0.408 NA 13 72 2.39e-15 2.73e-15 1 0 GLI1 2735 broad.mit.edu 37 12 57862003 57862003 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:57862003C>T uc001snx.2 + 10 1382 c.1304C>T c.(1303-1305)GCC>GTC p.A435V GLI1_uc009zpq.2_Missense_Mutation_p.A307V NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 435 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CCAGAGGGTGCCATGGTGAGA 0.582 NA 3 57 0 0 0 0 KIF5A 3798 broad.mit.edu 37 12 57968982 57968982 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:57968982T>C uc001sor.1 + 16 2040 c.1832T>C c.(1831-1833)CTC>CCC p.L611P KIF5A_uc010srr.1_Missense_Mutation_p.L522P NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 611 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CTGGAGAACCTCCAGGTGGAG 0.562 NA 10 40 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123103082 123103082 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:123103082G>A uc001ucv.2 + 59 6302 c.6139G>A c.(6139-6141)GCT>ACT p.A2047T KNTC1_uc010taf.1_Missense_Mutation_p.A972T NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 2047 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GAGTCTCATCGCTGTCCTCGA 0.338 NA 19 57 0 0 0 0 FAM101A 144347 broad.mit.edu 37 12 124798975 124798975 + Nonsense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:124798975C>A uc001ugd.1 + 3 555 c.312C>A c.(310-312)TGC>TGA p.C104* FAM101A_uc001uge.1_Nonsense_Mutation_p.C104* NM_181709 NP_859060 Q6ZTI6 F101A_HUMAN hypothetical protein LOC144347 185 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CCCTGCACTGCAGCCTGGGCC 0.706 NA 11 45 0.000673444 0.000716484 1 0 RIMBP2 23504 broad.mit.edu 37 12 130921701 130921701 + Missense_Mutation SNP C C T rs139344487 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr12:130921701C>T uc001uil.2 - 10 1905 c.1741G>A c.(1741-1743)GTT>ATT p.V581I RIMBP2_uc001uim.2_Missense_Mutation_p.V489I|RIMBP2_uc001uin.1_Missense_Mutation_p.V240I NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 581 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGGGGGGAACGGCAGCAACT 0.662 NA 7 8 0 0 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076887 49076887 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr13:49076887C>T uc001vch.2 - 11 1461 c.1090G>A c.(1090-1092)GCC>ACC p.A364T RCBTB2_uc010tgg.1_Missense_Mutation_p.A369T|RCBTB2_uc001vci.2_Missense_Mutation_p.A340T|RCBTB2_uc010tgh.1_Missense_Mutation_p.A90T|RCBTB2_uc001vcj.2_Missense_Mutation_p.A316T|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 364 RCC1 6. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACGTGACGGCGGGCGTGGCA 0.592 NA 27 119 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99554563 99554563 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr13:99554563G>A uc001vnt.2 - 12 1417 c.1362C>T c.(1360-1362)GCC>GCT p.A454A DOCK9_uc001vnw.2_Silent_p.A453A|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.A454A|DOCK9_uc010tis.1_Silent_p.A453A|DOCK9_uc010tit.1_Silent_p.A454A|DOCK9_uc010afu.1_Silent_p.A269A NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 454 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACTGCATGGCGGCTTCATGAA 0.532 NA 15 49 0 0 0 0 RAB2B 84932 broad.mit.edu 37 14 21936559 21936559 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:21936559G>A uc010tlt.1 - 5 420 c.319C>T c.(319-321)CAC>TAC p.H107Y RAB2B_uc010tls.1_Missense_Mutation_p.H61Y|RAB2B_uc001wax.2_Missense_Mutation_p.H42Y|RAB2B_uc010ain.2_Intron NM_032846 NP_116235 Q8WUD1 RAB2B_HUMAN RAB2B protein isoform 1 107 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding ovary(1) 1 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) GAACTAGAGTGCTGCCGGGCA 0.423 NA 10 49 0 0 0 0 TTC7B 145567 broad.mit.edu 37 14 91142993 91142993 + Silent SNP G G A rs149388931 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr14:91142993G>A uc001xyp.2 - 9 1148 c.1026C>T c.(1024-1026)GAC>GAT p.D342D TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 342 binding ovary(2) 2 Melanoma(154;0.222) TCAGCACAGCGTCCCGGTTGG 0.532 NA 17 98 0 0 0 0 RASGRP1 10125 broad.mit.edu 37 15 38808519 38808519 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:38808519T>C uc001zke.3 - 6 732 c.554A>G c.(553-555)CAA>CGA p.Q185R RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.Q47R|RASGRP1_uc010bbg.2_Missense_Mutation_p.Q47R|RASGRP1_uc001zkd.3_Missense_Mutation_p.Q185R NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 185 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TTTTATCCTTTGAGTAAGTTT 0.443 NA 19 111 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62299547 62299547 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:62299547G>A uc002agz.2 - 15 1324 c.1250C>T c.(1249-1251)ACA>ATA p.T417I VPS13C_uc002aha.2_Missense_Mutation_p.T374I|VPS13C_uc002ahb.1_Missense_Mutation_p.T417I|VPS13C_uc002ahc.1_Missense_Mutation_p.T374I NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 417 protein localization ovary(2) 2 TTTAGACTGTGTTAACTTGTT 0.313 NA 11 73 0 0 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727455 66727455 + Missense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:66727455G>T uc010bhq.2 + 2 646 c.171G>T c.(169-171)AAG>AAT p.K57N MAP2K1_uc010ujp.1_Missense_Mutation_p.K35N NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 57 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TTACCCAGAAGCAGAAGGTGG 0.542 NA Cardiofaciocutaneous_syndrome 47 286 4.19e-23 4.87e-23 1 0 PLIN1 5346 broad.mit.edu 37 15 90213327 90213327 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:90213327G>A uc010upx.1 - 5 592 c.482C>T c.(481-483)GCG>GTG p.A161V PLIN1_uc002boh.2_Missense_Mutation_p.A161V NM_001145311 NP_001138783 O60240 PLIN1_HUMAN perilipin 1 161 triglyceride catabolic process lipid particle lipid binding central_nervous_system(1)|skin(1) 2 AGCAAATTCCGCAGTGTCTCT 0.627 NA 9 37 0 0 0 0 OR4F15 390649 broad.mit.edu 37 15 102358822 102358822 + Silent SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr15:102358822T>C uc010uts.1 + 1 433 c.433T>C c.(433-435)TTA>CTA p.L145L NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTATACTTTTTAGCCACTTC 0.408 NA 36 241 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 29990752 29990752 + Missense_Mutation SNP T T G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:29990752T>G uc002dva.1 + 8 1361 c.578T>G c.(577-579)GTG>GGG p.V193G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.V193G|TAOK2_uc002dvc.1_Missense_Mutation_p.V193G|TAOK2_uc010bzm.1_Missense_Mutation_p.V193G|TAOK2_uc002dvd.1_5'Flank NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 193 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCACCCGAGGTGATCCTGGCC 0.582 NA 5 37 0 0 0 0 ITGAL 3683 broad.mit.edu 37 16 30510407 30510407 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:30510407G>A uc002dyi.3 + 16 2021 c.1845G>A c.(1843-1845)GTG>GTA p.V615V ITGAL_uc002dyj.3_Silent_p.V532V|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 615 FG-GAP 7.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CCCGGCCCGTGGTGGATATGG 0.567 NA 11 49 0 0 0 0 ABCC12 94160 broad.mit.edu 37 16 48149471 48149471 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:48149471C>T uc002efc.1 - 13 2190 c.1844G>A c.(1843-1845)CGC>CAC p.R615H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 615 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GTAGACAGCGCGGGCCAGGCT 0.632 NA 21 61 0 0 0 0 FHOD1 29109 broad.mit.edu 37 16 67272317 67272317 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67272317C>T uc002esl.2 - 4 519 c.407G>A c.(406-408)CGC>CAC p.R136H FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 136 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GAGGGAGCGGCGGAGCTCAGG 0.542 NA 13 39 0 0 0 0 C16orf48 84080 broad.mit.edu 37 16 67700071 67700071 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67700071G>A uc002etw.1 - 2 466 c.183C>T c.(181-183)CCC>CCT p.P61P C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.P61P|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank NM_032140 NP_115516 Q9H0I2 CP048_HUMAN hypothetical protein LOC84080 61 microtubule cytoskeleton protein binding 0 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCCGGCACCGGGACCGATGC 0.682 NA 30 110 0 0 0 0 DLG4 1742 broad.mit.edu 37 17 7099547 7099547 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:7099547G>A uc002get.3 - 13 2623 c.1422C>T c.(1420-1422)TTC>TTT p.F474F DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.F371F|DLG4_uc010cly.2_Silent_p.F428F|DLG4_uc010vto.1_Silent_p.F471F NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 431 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 ACCTGATGTAGAAACCCCTTT 0.642 NA 5 85 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578503 7578503 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:7578503C>T uc002gim.2 - 5 621 c.427G>A c.(427-429)GTG>ATG p.V143M TP53_uc002gig.1_Missense_Mutation_p.V143M|TP53_uc002gih.2_Missense_Mutation_p.V143M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V11M|TP53_uc010cng.1_Missense_Mutation_p.V11M|TP53_uc002gii.1_Missense_Mutation_p.V11M|TP53_uc010cnh.1_Missense_Mutation_p.V143M|TP53_uc010cni.1_Missense_Mutation_p.V143M|TP53_uc002gij.2_Missense_Mutation_p.V143M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V50M|TP53_uc002gio.2_Missense_Mutation_p.V11M|TP53_uc010vug.1_Missense_Mutation_p.V104M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 143 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> L (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.V143M(16)|p.V143A(14)|p.0?(7)|p.V143E(4)|p.V143L(4)|p.V143V(2)|p.V143fs*27(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(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) CACAGCTGCACAGGGCAGGTC 0.587 111 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) 27 47 0 0 0 0 STAC2 342667 broad.mit.edu 37 17 37368614 37368614 + Silent SNP G G A rs147042988 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:37368614G>A uc002hrs.2 - 11 1386 c.1167C>T c.(1165-1167)GAC>GAT p.D389D STAC2_uc010cvt.2_Silent_p.D247D NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 389 intracellular signal transduction metal ion binding pancreas(1) 1 GGATGAAGCCGTCAGCATCCT 0.637 NA 5 33 0 0 0 0 STAT3 6774 broad.mit.edu 37 17 40474419 40474419 + Missense_Mutation SNP T T A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:40474419T>A uc002hzl.1 - 21 2222 c.1982A>T c.(1981-1983)GAT>GTT p.D661V STAT3_uc002hzk.1_Missense_Mutation_p.D661V|STAT3_uc002hzm.1_Missense_Mutation_p.D661V|STAT3_uc010wgh.1_Missense_Mutation_p.D563V|STAT3_uc002hzn.1_Missense_Mutation_p.D661V NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 661 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATTGGTAGCATCCATGATCTT 0.483 NA Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 59 230 0 0 0 0 ITGB3 3690 broad.mit.edu 37 17 45367599 45367599 + Missense_Mutation SNP G G T rs150029332 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:45367599G>T uc002ilj.2 + 8 1104 c.1084G>T c.(1084-1086)GAT>TAT p.D362Y ITGB3_uc002ili.1_Missense_Mutation_p.D362Y|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 362 VWFA.|Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) TCTGTCCATGGATTCCAGCAA 0.493 NA 49 205 1.11e-26 1.3e-26 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48913362 48913362 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:48913362C>G uc002isv.3 + 1 758 c.64C>G c.(64-66)CTG>GTG p.L22V WFIKKN2_uc010dbu.2_Intron NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 22 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) gctgctgctgctgctgctact 0.602 NA 2 13 0 0 0 0 RPTOR 57521 broad.mit.edu 37 17 78899184 78899184 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr17:78899184G>A uc002jyt.1 + 24 3628 c.2823G>A c.(2821-2823)GCG>GCA p.A941A RPTOR_uc010wug.1_Silent_p.A783A NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 941 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CGGACGACGCGGACGATGCTG 0.572 NA 14 65 0 0 0 0 ANKRD12 23253 broad.mit.edu 37 18 9204522 9204522 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr18:9204522C>G uc002knv.2 + 4 541 c.284C>G c.(283-285)TCT>TGT p.S95C ANKRD12_uc010wzn.1_Missense_Mutation_p.S95C|ANKRD12_uc002knw.2_Intron|ANKRD12_uc002knx.2_Intron NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 95 nucleus ovary(2)|central_nervous_system(1) 3 AGACTTATATCTTCTTACAGG 0.373 NA 41 126 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9088876 9088876 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:9088876G>A uc002mkp.2 - 1 3143 c.2939C>T c.(2938-2940)TCA>TTA p.S980L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 980 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTTGTTGCTGAAGGTAACCC 0.458 NA 86 307 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132522 11132522 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:11132522C>T uc002mqf.3 + 19 3022 c.2738C>T c.(2737-2739)CCG>CTG p.P913L SMARCA4_uc010dxp.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P913L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P913L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P133L|SMARCA4_uc002mqh.3_Missense_Mutation_p.P36L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P116L NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 913 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACGGGCACACCGCTGCAGAAC 0.612 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 8 44 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36214909 36214909 + Splice_Site SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:36214909G>T uc010eei.2 + 9 3334 c.3334_splice c.e9+1 p.E1112_splice NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGAGAAAATGGTGCGAACTGC 0.552 NA 5 41 2.01e-06 2.19e-06 1 0 RYR1 6261 broad.mit.edu 37 19 38939326 38939326 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:38939326G>A uc002oit.2 + 11 1125 c.995G>A c.(994-996)GGC>GAC p.G332D RYR1_uc002oiu.2_Missense_Mutation_p.G332D NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 332 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GATGTGGAGGGCATGGGCCCC 0.637 NA 41 164 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52856994 52856994 + Silent SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:52856994G>C uc002pyx.3 + 4 529 c.123G>C c.(121-123)CTG>CTC p.L41L ZNF610_uc002pyy.3_Silent_p.L41L|ZNF610_uc002pyz.3_Silent_p.L41L|ZNF610_uc002pza.2_Silent_p.L41L NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGAAATCCCTGGACCCTGGAC 0.493 NA 32 140 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54327166 54327166 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:54327166C>G uc002qch.3 - 1 483 c.263G>C c.(262-264)AGA>ACA p.R88T NLRP12_uc002qci.3_Missense_Mutation_p.R88T|NLRP12_uc002qcj.3_Missense_Mutation_p.R88T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R88T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 88 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCTCTGTCCTCTCTCCCACAG 0.488 NA 65 224 0 0 0 0 LILRA6 79168 broad.mit.edu 37 19 54745723 54745723 + Silent SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr19:54745723C>A uc002qeu.1 - 4 511 c.387G>T c.(385-387)CTG>CTT p.L129L LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Silent_p.L129L|LILRA6_uc002qek.1_Silent_p.L129L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.L129L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.L129L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.L129L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.L129L|LILRA6_uc010yep.1_Silent_p.L129L|LILRA6_uc010yeq.1_Silent_p.L129L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 129 Extracellular (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGGCTGGGCAGGGCTGAGA 0.562 NA 16 412 2.46e-09 2.74e-09 1 0 PXDN 7837 broad.mit.edu 37 2 1667514 1667514 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:1667514C>T uc002qxa.2 - 12 1494 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q PXDN_uc002qxb.1_Missense_Mutation_p.R477Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 477 Ig-like C2-type 3. 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) CAGGTGCCGCCGGTCCACGGA 0.602 NA 5 139 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101317 80101317 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:80101317C>T uc010ysh.1 + 5 706 c.701C>T c.(700-702)GCC>GTC p.A234V CTNNA2_uc010yse.1_Missense_Mutation_p.A234V|CTNNA2_uc010ysf.1_Missense_Mutation_p.A234V|CTNNA2_uc010ysg.1_Missense_Mutation_p.A234V NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 234 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CCAGATGTCGCCGCTACGAGA 0.582 NA 38 78 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620359 80620359 + Silent SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:80620359T>C uc010ysh.1 + 7 1085 c.1080T>C c.(1078-1080)GAT>GAC p.D360D CTNNA2_uc010yse.1_Silent_p.D360D|CTNNA2_uc010ysf.1_Silent_p.D360D|CTNNA2_uc010ysg.1_Silent_p.D360D|CTNNA2_uc010ysi.1_5'UTR NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 360 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AAAAAGGAGATCCTCTCAACA 0.284 NA 63 118 0 0 0 0 GPR45 11250 broad.mit.edu 37 2 105858997 105858997 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:105858997C>T uc002tco.1 + 1 798 c.682C>T c.(682-684)CGC>TGC p.R228C NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 228 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GAACGCCGTGCGCGTGCACAA 0.652 NA 5 150 0 0 0 0 MARCH7 64844 broad.mit.edu 37 2 160585576 160585576 + Nonsense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:160585576C>T uc002uax.2 + 2 165 c.43C>T c.(43-45)CAA>TAA p.Q15* MARCH7_uc010foq.2_Nonsense_Mutation_p.Q15*|MARCH7_uc010zcn.1_Nonsense_Mutation_p.Q15* NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 15 Ser-rich. ligase activity|zinc ion binding 0 AATTTCTGTTCAACCTTCCAG 0.343 NA 34 70 0 0 0 0 SESTD1 91404 broad.mit.edu 37 2 179979882 179979882 + Silent SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:179979882C>A uc002uni.3 - 16 1899 c.1749G>T c.(1747-1749)CTG>CTT p.L583L SESTD1_uc002unh.3_Silent_p.L86L NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 583 Spectrin 3. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) ATACTCTGTTCAGTCGAGGAA 0.433 NA 21 66 4.97e-08 5.49e-08 1 0 SSFA2 6744 broad.mit.edu 37 2 182767033 182767033 + Missense_Mutation SNP A A G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:182767033A>G uc002uoi.2 + 8 1575 c.1253A>G c.(1252-1254)GAT>GGT p.D418G SSFA2_uc002uoh.2_Missense_Mutation_p.D418G|SSFA2_uc002uoj.2_Missense_Mutation_p.D418G|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.D265G|SSFA2_uc002uol.2_Missense_Mutation_p.D265G NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 418 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCAAATTAGATAGTGATTTC 0.383 NA 15 84 0 0 0 0 BTBD3 22903 broad.mit.edu 37 20 11903288 11903288 + Missense_Mutation SNP C C G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:11903288C>G uc002wnz.2 + 4 902 c.543C>G c.(541-543)ATC>ATG p.I181M BTBD3_uc002wny.2_Missense_Mutation_p.I120M|BTBD3_uc002woa.2_Missense_Mutation_p.I120M|BTBD3_uc010zrf.1_Missense_Mutation_p.I30M|BTBD3_uc010zrg.1_Missense_Mutation_p.I30M|BTBD3_uc010zrh.1_Missense_Mutation_p.I30M NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 181 BTB. ovary(2)|central_nervous_system(1) 3 ACAGATATATCTATTGTGATG 0.388 NA 27 132 0 0 0 0 KIAA0406 9675 broad.mit.edu 37 20 36631033 36631033 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:36631033C>T uc002xhl.2 - 5 2858 c.2649G>A c.(2647-2649)CTG>CTA p.L883L KIAA0406_uc002xhm.2_Silent_p.L883L NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 883 binding 0 Myeloproliferative disorder(115;0.00874) CACTGACCTTCAGGCGGATTT 0.532 NA 29 116 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40743859 40743859 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr20:40743859G>A uc002xkg.2 - 22 3263 c.3079C>T c.(3079-3081)CGC>TGC p.R1027C PTPRT_uc010ggj.2_Missense_Mutation_p.R1046C|PTPRT_uc010ggi.2_Missense_Mutation_p.R230C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1027 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGAAGGTGCGTATGACGTAT 0.458 NA 31 133 0 0 0 0 CLDN17 26285 broad.mit.edu 37 21 31538657 31538657 + Silent SNP G G A rs138854149 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr21:31538657G>A uc011acv.1 - 1 279 c.279C>T c.(277-279)ATC>ATT p.I93I NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 93 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 TAAGCAGGGCGATCAAGGAGA 0.557 NA 32 105 0 0 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993723 45993723 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr21:45993723G>A uc002zfk.1 + 1 118 c.88G>A c.(88-90)GAC>AAC p.D30N C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 30 keratin filament 0 CTGGCAGGTGGACGACTGCCC 0.682 NA 27 99 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 6903213 6903213 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:6903213G>A uc003bqm.2 + 1 412 c.138G>A c.(136-138)GAG>GAA p.E46E GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.E46E|GRM7_uc003bql.2_Silent_p.E46E NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 46 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TCCGGATCGAGGGGGACGTCA 0.692 NA 3 12 0 0 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119084258 119084258 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:119084258C>T uc003ecj.3 + 2 728 c.196C>T c.(196-198)CGG>TGG p.R66W NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 66 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 AAACATACAACGGCTAAGGTA 0.438 NA 17 100 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708596 126708596 + Nonsense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:126708596G>A uc003ejg.2 + 1 1095 c.1091G>A c.(1090-1092)TGG>TAG p.W364* NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 387 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TCCCTGCCGTGGCTGCTCAAC 0.642 NA 32 91 0 0 0 0 FAIM 55179 broad.mit.edu 37 3 138351800 138351800 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:138351800C>A uc003esr.2 + 5 679 c.419C>A c.(418-420)ACT>AAT p.T140N FAIM_uc003esp.2_Missense_Mutation_p.T174N|FAIM_uc003esq.2_Missense_Mutation_p.T162N|FAIM_uc003ess.2_Missense_Mutation_p.T140N NM_001033032 NP_001028204 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule isoform c 140 apoptosis cytoplasm 0 GGGACTGAAACTCACTTCAGT 0.413 NA 68 123 1.93e-29 2.28e-29 1 0 XRN1 54464 broad.mit.edu 37 3 142098954 142098954 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:142098954G>A uc003eus.2 - 23 2752 c.2685C>T c.(2683-2685)CCC>CCT p.P895P XRN1_uc010huu.2_Silent_p.P361P|XRN1_uc003eut.2_Silent_p.P895P|XRN1_uc003euu.2_Silent_p.P895P|XRN1_uc003euv.1_Silent_p.P756P NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 895 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CATCAAGATTGGGTTCACATG 0.328 NA 19 79 0 0 0 0 CHRD 8646 broad.mit.edu 37 3 184101432 184101432 + Splice_Site SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:184101432T>C uc003fov.2 + 12 1686 c.1440_splice c.e12+2 p.T480_splice CHRD_uc003fow.2_Splice_Site_p.T110_splice|CHRD_uc003fox.2_Splice_Site_p.T480_splice|CHRD_uc003foy.2_Splice_Site_p.T110_splice|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Splice_Site_p.T110_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGACACACGGTGAGGGCTCCA 0.607 NA 10 87 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194062951 194062951 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr3:194062951G>C uc003fts.2 - 2 571 c.481C>G c.(481-483)CCC>GCC p.P161A NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 161 LRR 3. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AGCCTCCTGGGCAGGGCCTGG 0.637 NA 11 93 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111430849 111430849 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr4:111430849G>A uc003iab.3 + 5 1422 c.1080G>A c.(1078-1080)GAG>GAA p.E360E NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 360 Substrate binding (By similarity).|Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GTGCCATGGAGAACTGGGGAC 0.443 NA 25 132 0 0 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741347 140741347 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:140741347C>T uc003ljs.1 + 1 1645 c.1645C>T c.(1645-1647)CGC>TGC p.R549C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R549C|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 549 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGAGCCTGCGCGTGTTAGT 0.697 NA 21 103 0 0 0 0 HAVCR1 26762 broad.mit.edu 37 5 156456763 156456763 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:156456763C>T uc010jij.1 - 9 1261 c.1076G>A c.(1075-1077)AGT>AAT p.S359N HAVCR1_uc011ddl.1_Missense_Mutation_p.V179I|HAVCR1_uc003lwi.2_Missense_Mutation_p.S359N NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 354 Cytoplasmic (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCATAAAGACTATTCTCAAT 0.408 NA 15 61 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161524781 161524781 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:161524781C>T uc003lyz.3 + 4 823 c.465C>T c.(463-465)TCC>TCT p.S155S GABRG2_uc010jjc.2_Silent_p.S155S|GABRG2_uc003lyy.3_Silent_p.S155S|GABRG2_uc011dej.1_Silent_p.S60S NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 155 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TCAGAAATTCCAAAAAAGCTG 0.428 NA 38 165 0 0 0 0 RPL26L1 51121 broad.mit.edu 37 5 172386987 172386987 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:172386987G>C uc003mcc.2 + 2 153 c.111G>C c.(109-111)GAG>GAC p.E37D LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 37 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCCAAGGAGCTGCGGCAGA 0.602 NA 37 180 0 0 0 0 RNF44 22838 broad.mit.edu 37 5 175958006 175958006 + Missense_Mutation SNP G G C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr5:175958006G>C uc003mek.1 - 5 1007 c.482C>G c.(481-483)ACC>AGC p.T161S RNF44_uc011dfo.1_Missense_Mutation_p.T69S|RNF44_uc003mel.1_5'Flank NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 161 Pro-rich. zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCTGCATGGTGCACGCCTG 0.667 NA 7 20 0 0 0 0 GPLD1 2822 broad.mit.edu 37 6 24437400 24437400 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:24437400C>T uc003ned.1 - 21 2249 c.2138G>A c.(2137-2139)CGC>CAC p.R713H NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 713 FG-GAP 6. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 GGAGAAGCGGCGGTCTCCGCT 0.562 NA 22 116 0 0 0 0 MAS1L 116511 broad.mit.edu 37 6 29455445 29455445 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:29455445C>A uc011dlq.1 - 1 235 c.235G>T c.(235-237)GCC>TCC p.A79S NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 79 Helical; Name=1; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 GCCTTGGGGGCAATGATATTC 0.512 NA 24 67 3.08e-08 3.42e-08 1 0 TULP1 7287 broad.mit.edu 37 6 35467758 35467758 + Missense_Mutation SNP G G A rs138772407 byFrequency TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:35467758G>A uc003okv.3 - 14 1507 c.1495C>T c.(1495-1497)CCC>TCC p.P499S TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.P446S NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 499 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 AGGTACTCACGGTCATCAGCG 0.587 NA 71 107 0 0 0 0 DST 667 broad.mit.edu 37 6 56489977 56489977 + Nonsense_Mutation SNP G G T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:56489977G>T uc003pdf.2 - 34 4737 c.4709C>A c.(4708-4710)TCA>TAA p.S1570* DST_uc003pcz.3_Nonsense_Mutation_p.S1392*|DST_uc011dxj.1_Nonsense_Mutation_p.S1421*|DST_uc011dxk.1_Nonsense_Mutation_p.S1432*|DST_uc003pcy.3_Nonsense_Mutation_p.S1066*|DST_uc003pdb.2_Nonsense_Mutation_p.S1066*|DST_uc003pdc.3_Nonsense_Mutation_p.S1066*|DST_uc003pdd.3_Nonsense_Mutation_p.S1066* NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1392 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGATCTGCTGAACTCTGCAT 0.353 NA 63 273 4.6e-24 5.38e-24 1 0 PRDM1 639 broad.mit.edu 37 6 106552717 106552717 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:106552717C>T uc003prd.2 + 5 916 c.682C>T c.(682-684)CTA>TTA p.L228L PRDM1_uc003pre.2_Silent_p.L94L NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 228 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) ACAGAGCAGTCTAAAGCAACC 0.448 NA D|N|Mis|F|S DLBCL 70 332 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157528080 157528080 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr6:157528080G>A uc003qqn.2 + 20 5903 c.5751G>A c.(5749-5751)GCG>GCA p.A1917A ARID1B_uc003qqo.2_Silent_p.A1877A|ARID1B_uc003qqp.2_Silent_p.A1864A NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1922 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTACCATCGCGCACTGGCAGG 0.537 NA 37 147 0 0 0 0 COBL 23242 broad.mit.edu 37 7 51203960 51203960 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:51203960C>T uc003tpr.3 - 6 1037 c.852G>A c.(850-852)TCG>TCA p.S284S COBL_uc003tps.2_Silent_p.S284S|COBL_uc011kcl.1_Silent_p.S284S|COBL_uc010kzc.2_Silent_p.S284S|COBL_uc003tpt.2_Silent_p.S284S|COBL_uc003tpp.3_Silent_p.S13S|COBL_uc003tpq.3_Silent_p.S225S NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 284 skin(3)|ovary(2) 5 Glioma(55;0.08) TGCTGCCCAGCGAGAGGGATG 0.577 NA 14 69 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100696279 100696279 + Silent SNP G G A rs146965923 TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:100696279G>A uc003uxp.1 + 10 13169 c.13116G>A c.(13114-13116)ACG>ACA p.T4372T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4372 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCGTGACCACGGAAACTCACT 0.602 NA 19 102 0 0 0 0 SLC26A4 5172 broad.mit.edu 37 7 107330644 107330644 + Missense_Mutation SNP C C T rs147952620 by1000genomes TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:107330644C>T uc003vep.2 + 10 1449 c.1225C>T c.(1225-1227)CGC>TGC p.R409C SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 409 Extracellular (Potential). R -> H (in PDS).|R -> P (in DFNB4). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TGCTCTTTCCCGCACGGCCGT 0.493 NA Pendred_syndrome 42 145 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127222240 127222240 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:127222240T>C uc003vma.2 - 2 2574 c.2156A>G c.(2155-2157)AAT>AGT p.N719S NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 719 Potential.|GRIP. Golgi membrane|plasma membrane protein binding ovary(2) 2 GTACTCCAGATTGGCTCCCTC 0.567 NA 43 173 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149510810 149510810 + Silent SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr7:149510810C>T uc010lpk.2 + 72 10095 c.10095C>T c.(10093-10095)TGC>TGT p.C3365C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3365 TIL 5. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGGGTCACTGCAGCTGCCTGG 0.697 NA 13 39 0 0 0 0 USP17L2 377630 broad.mit.edu 37 8 11996046 11996046 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:11996046G>A uc003wvc.1 - 1 224 c.224C>T c.(223-225)CCT>CTT p.P75L FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 75 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 CACCGCAGCAGGTCTCCTGCT 0.572 NA 15 346 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104955091 104955091 + Missense_Mutation SNP C C A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:104955091C>A uc003yls.2 + 12 2213 c.1972C>A c.(1972-1974)CAC>AAC p.H658N RIMS2_uc003ylp.2_Missense_Mutation_p.H880N|RIMS2_uc003ylw.2_Missense_Mutation_p.H672N|RIMS2_uc003ylq.2_Missense_Mutation_p.H672N|RIMS2_uc003ylr.2_Missense_Mutation_p.H719N|RIMS2_uc003ylt.2_Missense_Mutation_p.H265N NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 942 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.Y658S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCCACTTCCCCACCCTTCTCC 0.388 NA HNSCC(12;0.0054) 22 130 5.45e-15 6.19e-15 1 0 FAM83H 286077 broad.mit.edu 37 8 144810795 144810795 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:144810795G>A uc003yzk.2 - 5 905 c.836C>T c.(835-837)GCG>GTG p.A279V FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 279 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCGGACTGCGCGAAGAGGAT 0.672 NA 4 44 0 0 0 0 SHB 6461 broad.mit.edu 37 9 37919970 37919970 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:37919970C>T uc004aax.2 - 6 1946 c.1378G>A c.(1378-1380)GCC>ACC p.A460T NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 460 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGGTTTTGGCCAGTTTCATG 0.502 NA 5 161 0 0 0 0 GADD45G 10912 broad.mit.edu 37 9 92220945 92220945 + Missense_Mutation SNP A A C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:92220945A>C uc004aqq.2 + 4 541 c.431A>C c.(430-432)GAG>GCG p.E144A GADD45G_uc004aqr.2_Missense_Mutation_p.E126A NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 144 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 TTTTGCGAGGAGAGCCGCAGC 0.682 NA 4 30 0 0 0 0 KIAA1529 57653 broad.mit.edu 37 9 100075586 100075586 + Missense_Mutation SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:100075586G>A uc011lut.1 + 17 1740 c.967G>A c.(967-969)GCT>ACT p.A323T KIAA1529_uc004axe.1_Missense_Mutation_p.A323T|KIAA1529_uc004axg.1_Missense_Mutation_p.A184T|KIAA1529_uc011lus.1_Missense_Mutation_p.A184T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A184T|KIAA1529_uc011luv.1_Missense_Mutation_p.A184T NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CTACGAGAGCGCTCTGGCCAG 0.542 NA 18 135 0 0 0 0 NCBP1 4686 broad.mit.edu 37 9 100424349 100424349 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr9:100424349G>A uc004axq.2 + 17 2085 c.1626G>A c.(1624-1626)TTG>TTA p.L542L NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 542 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) TTAACCCATTGAAAATAGAAG 0.373 NA 12 96 0 0 0 0 KIAA1210 57481 broad.mit.edu 37 X 118217058 118217058 + Missense_Mutation SNP T T C TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chrX:118217058T>C uc004era.3 - 13 4874 c.4874A>G c.(4873-4875)CAA>CGA p.Q1625R NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1625 ovary(4)|skin(1) 5 CTTTTTAGGTTGGTTTTCATT 0.388 NA 34 61 0 0 0 0 CTCF 10664 broad.mit.edu 37 16 67645241 67645242 + Frame_Shift_Ins INS - - G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr16:67645241_67645242insG uc002etl.2 + 3 796_797 c.506_507insG c.(505-507)GTGfs p.V169fs CTCF_uc010cek.2_Intron NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 169 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GTGGTTAAAGTGGGGGCCAATG 0.505 NA 19 122 --- --- --- --- NA NA NA NA CASP8 841 broad.mit.edu 37 2 202149679 202149688 + Frame_Shift_Del DEL CTCTCCCATG CTCTCCCATG - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:202149679_202149688delCTCTCCCATG uc002uxr.1 + 9 1152_1161 c.943_952delCTCTCCCATG c.(943-954)CTCTCCCATGGAfs p.L315fs CASP8_uc002uxp.1_Frame_Shift_Del_p.L332fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.L300fs|CASP8_uc002uxt.1_Frame_Shift_Del_p.L374fs|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Frame_Shift_Del_p.L300fs|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Frame_Shift_Del_p.L231fs NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 315_318 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CTGCTGTATCCTCTCCCATGGAGACAAGGG 0.486 NA HNSCC(4;0.00038) 41 199 --- --- --- --- NA NA NA NA NPPC 4880 broad.mit.edu 37 2 232790411 232790412 + Frame_Shift_Ins INS - - G TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr2:232790411_232790412insG uc002vsl.1 - 2 104_105 c.104_105insC c.(103-105)CCGfs p.P35fs NM_024409 NP_077720 P23582 ANFC_HUMAN natriuretic peptide precursor C precursor 35 cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction hormone activity 0 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834) CCTCTGCCGGCGGGGTTCGCGG 0.743 NA 7 8 --- --- --- --- NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113662425 113662425 + Frame_Shift_Del DEL T T - TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac15d7e-3930-4fcb-b752-4a4f00449ddd 7e57b010-763c-4a96-bab3-1016647a1569 g.chr8:113662425delT uc003ynu.2 - 19 3317 c.3158delA c.(3157-3159)AACfs p.N1053fs CSMD3_uc003yns.2_Frame_Shift_Del_p.N325fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.N1013fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.N949fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1053 Extracellular (Potential).|Sushi 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCACCAGTGGTTTTTTTCGCA 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 318 --- --- --- --- NA NA NA NA