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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PANK4 55229 broad.mit.edu 37 1 2453183 2453183 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:2453183C>G uc001ajm.1 - 2 190 c.181G>C c.(181-183)GTG>CTG p.V61L PANK4_uc010nza.1_Missense_Mutation_p.V61L NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 61 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AAAGACCGCACCTTGGCGACT 0.607 NaN 0 0 0 0.010771 0 44 138 ENO1 2023 broad.mit.edu 37 1 8927305 8927305 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:8927305C>T uc001apj.1 - 6 466 c.315G>A c.(313-315)AAG>AAA p.K105K ENO1_uc001api.1_Silent_p.K9K|ENO1_uc001apk.1_Silent_p.K50K|ENO1_uc001apl.1_Silent_p.K105K|ENO1_uc009vmi.1_Silent_p.K62K|ENO1_uc009vmj.1_Silent_p.K105K|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Silent_p.K105K NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 105 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TCGCACCAAACTTAGCTAGAA 0.542 NaN 0 0 0 0.003755 0 35 82 LOC440563 440563 broad.mit.edu 37 1 13183780 13183780 + Silent SNP A A C rs116484938 by1000genomes TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:13183780A>C uc010obg.1 - 1 188 c.93T>G c.(91-93)TCT>TCG p.S31S NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 31 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CCTCCACATCAGATTTCTTGA 0.468 NaN 0 0 0 0.006214 0 6 111 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NaN 0 0 0 0.006214 0 8 110 ARID1A 8289 broad.mit.edu 37 1 27094374 27094374 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:27094374C>T uc001bmv.1 + 11 3455 c.3082C>T c.(3082-3084)CTG>TTG p.L1028L ARID1A_uc001bmt.1_Silent_p.L1028L|ARID1A_uc001bmu.1_Silent_p.L1028L|ARID1A_uc001bmw.1_Silent_p.L645L NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1028 ARID. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGACCGTTATCTGGCCTTCAC 0.502 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 51 100 CDCA8 55143 broad.mit.edu 37 1 38161616 38161616 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:38161616G>A uc001cbr.2 + 4 365 c.258G>A c.(256-258)GCG>GCA p.A86A CDCA8_uc001cbs.2_Silent_p.A86A|CDCA8_uc010oih.1_Silent_p.A19A NM_018101 NP_060571 Q53HL2 BOREA_HUMAN cell division cycle associated 8 86 Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGAAGAGGCGGCAACAGTAA 0.408 NaN 0 0 0 0.004482 0 9 42 IPO13 9670 broad.mit.edu 37 1 44423127 44423127 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:44423127C>T uc001ckx.2 + 7 2241 c.1446C>T c.(1444-1446)GTC>GTT p.V482V NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 482 HEAT 8. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCATTGACGTCAACTATTCTG 0.562 NaN 0 0 0 0.012319 0 11 105 IPO13 9670 broad.mit.edu 37 1 44423149 44423150 + Missense_Mutation DNP GG GG TT TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:44423149_44423150GG>TT uc001ckx.2 + 7 2263_2264 c.1468_1469GG>TT c.(1468-1470)GGG>TTG p.G490L NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 490 HEAT 8. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGTGGTGCCTGGGCTCATTGGC 0.559 NaN 0 0 0 0.004672 0 12 116 ATG4C 84938 broad.mit.edu 37 1 63284996 63284996 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:63284996C>G uc001dat.2 + 5 877 c.715C>G c.(715-717)CAC>GAC p.H239D ATG4C_uc001dau.2_Missense_Mutation_p.H239D NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN APG4 autophagy 4 homolog C isoform 8 239 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ovary(1) 1 TGTGGTTGCTCACATTTTAAG 0.363 NaN 0 0 0 0.00632 0 27 63 LEPR 3953 broad.mit.edu 37 1 66074462 66074462 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:66074462A>G uc001dci.2 + 12 1832 c.1630A>G c.(1630-1632)AAA>GAA p.K544E LEPR_uc001dcg.2_Missense_Mutation_p.K544E|LEPR_uc001dch.2_Missense_Mutation_p.K544E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.K544E|LEPR_uc001dck.2_Missense_Mutation_p.K544E NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 544 Extracellular (Potential).|Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATCCAGTGTGAAAGCAGAAAT 0.313 NaN 0 0 0 0.00308 0 8 50 DDAH1 23576 broad.mit.edu 37 1 85824470 85824470 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:85824470C>G uc001dlb.2 - 2 525 c.364G>C c.(364-366)GAA>CAA p.E122Q DDAH1_uc001dlc.2_Missense_Mutation_p.E19Q|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.E22Q|DDAH1_uc009wco.2_Missense_Mutation_p.E19Q NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 122 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) GTTGCATTTTCATCTTTCATC 0.284 NaN 0 0 0 0.00632 0 24 74 HS2ST1 9653 broad.mit.edu 37 1 87563566 87563566 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:87563566G>C uc010osk.1 + 5 1019 c.634G>C c.(634-636)GAG>CAG p.E212Q HS2ST1_uc001dmc.3_Missense_Mutation_p.E212Q|LOC339524_uc001dme.1_Missense_Mutation_p.E173Q NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 212 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CTGTGCTCCAGAGAAGCTCTG 0.458 NaN 0 0 0 0.010818 0 30 64 TGFBR3 7049 broad.mit.edu 37 1 92181853 92181853 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:92181853G>A uc001doh.2 - 12 2272 c.1806C>T c.(1804-1806)CTC>CTT p.L602L TGFBR3_uc009wde.2_Silent_p.L379L|TGFBR3_uc010osy.1_Silent_p.L560L|TGFBR3_uc001doi.2_Silent_p.L601L|TGFBR3_uc001doj.2_Silent_p.L601L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 602 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GCACCAAAAAGAGGTCAGTGT 0.502 NaN 0 0 0 0.003163 0 15 40 C1orf146 388649 broad.mit.edu 37 1 92710355 92710355 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:92710355C>G uc001doq.2 + 5 421 c.349C>G c.(349-351)CGA>GGA p.R117G C1orf146_uc010ote.1_Missense_Mutation_p.R58G NM_001012425 NP_001012425 Q5VVC0 CA146_HUMAN hypothetical protein LOC388649 117 ovary(1) 1 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) TTGTAACTTACGAATACTTCC 0.353 NaN 0 0 0 0.004878 0 33 52 PTBP2 58155 broad.mit.edu 37 1 97236333 97236333 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:97236333C>G uc001drq.2 + 5 604 c.358C>G c.(358-360)CAT>GAT p.H120D PTBP2_uc001drn.2_Missense_Mutation_p.H120D|PTBP2_uc001dro.2_Missense_Mutation_p.H120D|PTBP2_uc010otz.1_Missense_Mutation_p.H131D|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.H68D|PTBP2_uc001drr.2_Missense_Mutation_p.H120D|PTBP2_uc010oua.1_Missense_Mutation_p.H128D|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Missense_Mutation_p.H120D NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 120 RRM 1. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TGTGACACCTCATCTTCGTAA 0.323 NaN 0 0 0 0.013726 0 34 71 HIPK1 204851 broad.mit.edu 37 1 114483496 114483496 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:114483496C>T uc001eem.2 + 2 652 c.491C>T c.(490-492)ACA>ATA p.T164I HIPK1_uc001eel.2_Missense_Mutation_p.T164I|HIPK1_uc001een.2_Missense_Mutation_p.T164I NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGTGACCACAAAGAGTAGC 0.517 NaN 0 0 0 0.007835 0 40 62 VANGL1 81839 broad.mit.edu 37 1 116206768 116206768 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:116206768C>T uc001efv.1 + 4 962 c.691C>T c.(691-693)CTC>TTC p.L231F VANGL1_uc009wgy.1_Missense_Mutation_p.L229F|VANGL1_uc001efw.1_Missense_Mutation_p.L231F NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 231 Helical; Name=4; (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GGATGCCCTCCTCTTCATCCA 0.572 NaN 0 0 0 0.014323 0 22 86 ADAMTSL4 54507 broad.mit.edu 37 1 150526564 150526564 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:150526564G>C uc001eux.2 + 6 1333 c.1097G>C c.(1096-1098)GGG>GCG p.G366A ADAMTSL4_uc001euw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.G366A NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 366 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGATGTTCTGGGGAGAGTGAA 0.652 NaN 0 0 0 0.013537 0 12 46 MEX3A 92312 broad.mit.edu 37 1 156051352 156051352 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:156051352C>G uc001fnd.3 - 1 438 c.438G>C c.(436-438)GAG>GAC p.E146D LMNA_uc001fnf.1_5'Flank NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 146 KH 1. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) TGCCCACGATCTCGGCCACGT 0.637 NaN 0 0 0 0.009096 0 4 9 OR10J3 441911 broad.mit.edu 37 1 159283465 159283465 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:159283465A>G uc010piu.1 - 1 985 c.985T>C c.(985-987)TAC>CAC p.Y329H NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 329 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) AAAAATTAGTACATATTTATA 0.393 NaN 0 0 0 0.013726 0 32 66 POU2F1 5451 broad.mit.edu 37 1 167339439 167339439 + Silent SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:167339439T>G uc001gec.2 + 5 363 c.201T>G c.(199-201)TCT>TCG p.S67S POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.S65S|POU2F1_uc001gee.2_Silent_p.S67S|POU2F1_uc010plh.1_Silent_p.S67S|POU2F1_uc001gef.2_Silent_p.S79S|POU2F1_uc001geg.2_5'Flank NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 67 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 CTGCTCAGTCTTTAAATGTAC 0.358 NaN 0 0 0 0.008361 0 28 134 DCAF6 55827 broad.mit.edu 37 1 167921068 167921068 + Missense_Mutation SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:167921068T>G uc001gew.2 + 2 370 c.128T>G c.(127-129)CTT>CGT p.L43R DCAF6_uc001gev.2_Missense_Mutation_p.L43R|DCAF6_uc001gex.2_Missense_Mutation_p.L43R|DCAF6_uc010plk.1_Missense_Mutation_p.L43R NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 43 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGATTAAAACTTGAAGCAACC 0.279 NaN 0 0 0 0.01441 0 55 32 SELE 6401 broad.mit.edu 37 1 169696572 169696572 + Silent SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:169696572A>C uc001ggm.3 - 10 1720 c.1563T>G c.(1561-1563)CCT>CCG p.P521P C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 521 Extracellular (Potential).|Sushi 6. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) TCCATCCTTCAGGACAGGCGA 0.542 NaN 0 0 0 0.01441 0 55 56 ABL2 27 broad.mit.edu 37 1 179077602 179077602 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:179077602G>A uc001gmj.3 - 12 3087 c.2800C>T c.(2800-2802)CTT>TTT p.L934F ABL2_uc010pnf.1_Missense_Mutation_p.L831F|ABL2_uc010png.1_Missense_Mutation_p.L810F|ABL2_uc010pnh.1_Missense_Mutation_p.L913F|ABL2_uc001gmg.3_Missense_Mutation_p.L816F|ABL2_uc001gmi.3_Missense_Mutation_p.L919F|ABL2_uc001gmh.3_Missense_Mutation_p.L898F|ABL2_uc010pne.1_Missense_Mutation_p.L795F NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 934 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GGTGAGATAAGGACTGGCACT 0.557 NaN T ETV6 AML 0 0 0 0.01441 0 66 55 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:182812436T>G uc001gpr.2 + 3 282 c.119T>G c.(118-120)GTG>GGG p.V40G DHX9_uc001gps.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 AAGGTTCAGGTGGAAGGTTAT 0.333 NaN 0 0 0 0.00499 0 9 63 GLT25D2 23127 broad.mit.edu 37 1 183908076 183908076 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:183908076C>T uc001gqr.2 - 12 2072 c.1700G>A c.(1699-1701)GGG>GAG p.G567E GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.G175E|GLT25D2_uc001gqq.2_Missense_Mutation_p.G304E|GLT25D2_uc001gqs.2_Missense_Mutation_p.G447E NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 567 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 ACTCAGGTACCCCGGCTGGCC 0.562 NaN 0 0 0 0.00499 0 18 134 HMCN1 83872 broad.mit.edu 37 1 186022986 186022986 + Silent SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:186022986C>A uc001grq.1 + 44 6959 c.6730C>A c.(6730-6732)CGA>AGA p.R2244R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2244 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTCCATGGGGCGAGTTAGAAT 0.428 NaN 1 0 1.15088e-07 0.004007 1.21879e-07 16 95 KIF14 9928 broad.mit.edu 37 1 200569537 200569537 + Silent SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:200569537T>A uc010ppk.1 - 12 2686 c.2247A>T c.(2245-2247)ACA>ACT p.T749T KIF14_uc010ppj.1_Silent_p.T258T NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 749 Potential. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTCTTAAGGATGTTATTTCTT 0.413 NaN 0 0 0 0.01441 0 63 293 HEATR1 55127 broad.mit.edu 37 1 236767261 236767261 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:236767261G>T uc001hyd.1 - 2 260 c.135C>A c.(133-135)TTC>TTA p.F45L HEATR1_uc001hye.1_Missense_Mutation_p.F45L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 45 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CACCAATGGCGAAGGCGGTGT 0.443 NaN 1 0 7.45023e-12 0.010504 8.06516e-12 20 29 OR2L3 391192 broad.mit.edu 37 1 248224761 248224761 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr1:248224761C>T uc001idx.1 + 1 778 c.778C>T c.(778-780)CGT>TGT p.R260C OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CACTTATCTACGTCCAAGATC 0.488 NaN 0 0 0 0.01441 0 47 118 BICC1 80114 broad.mit.edu 37 10 60560788 60560788 + Missense_Mutation SNP C C T rs139193189 byFrequency TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:60560788C>T uc001jki.1 + 14 1997 c.1997C>T c.(1996-1998)ACG>ATG p.T666M BICC1_uc001jkj.1_Missense_Mutation_p.T307M NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 666 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 TTGCAAGGCACGAAAAACTCA 0.383 NaN 0 0 0 0.013537 0 13 54 MAT1A 4143 broad.mit.edu 37 10 82036336 82036336 + Nonsense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:82036336G>T uc001kbw.2 - 6 819 c.564C>A c.(562-564)TAC>TAA p.Y188* NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 188 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGTCCTGCATGTACTGAACTG 0.592 NaN 1 0 7.05121e-23 0.010771 7.98825e-23 45 105 TNKS2 80351 broad.mit.edu 37 10 93582057 93582057 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:93582057C>G uc001khp.2 + 7 1030 c.733C>G c.(733-735)CTG>GTG p.L245V NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 245 ANK 5. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) TTGTAGTGATCTGGTACCATT 0.328 NaN 0 0 0 0.006999 0 38 116 SFRP5 6425 broad.mit.edu 37 10 99529459 99529459 + Silent SNP G G A rs144832598 byFrequency TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:99529459G>A uc001kor.3 - 2 739 c.573C>T c.(571-573)GAC>GAT p.D191D NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 precursor 191 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) CCATGAGGCCGTCAGCACTGT 0.602 NaN 0 0 0 0.009096 0 3 21 SEC31B 25956 broad.mit.edu 37 10 102262099 102262099 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:102262099A>G uc001krc.1 - 11 1424 c.1322T>C c.(1321-1323)TTG>TCG p.L441S SEC31B_uc010qpo.1_Missense_Mutation_p.L440S|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Missense_Mutation_p.L10S NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 441 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TCCTGATCCCAAGGCCTCCTG 0.517 NaN 0 0 0 0.008361 0 32 72 FAM178A 55719 broad.mit.edu 37 10 102676648 102676648 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:102676648G>C uc001krt.3 + 3 1048 c.506G>C c.(505-507)CGA>CCA p.R169P FAM178A_uc001krr.1_Missense_Mutation_p.R169P|FAM178A_uc001krs.2_Missense_Mutation_p.R169P|FAM178A_uc001kru.1_Missense_Mutation_p.R105P NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 169 0 AAAAAACATCGATCCCCAGAG 0.383 NaN 0 0 0 0.005443 0 29 59 SLK 9748 broad.mit.edu 37 10 105779625 105779625 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:105779625G>T uc001kxo.1 + 16 3300 c.3266G>T c.(3265-3267)AGT>ATT p.S1089I SLK_uc001kxp.1_Missense_Mutation_p.S1058I NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 1089 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTTAAGAAGAGTTTGAGAATT 0.378 NaN 1 0 8.72198e-27 0.01441 1.00141e-26 43 95 PDZD8 118987 broad.mit.edu 37 10 119043391 119043391 + Silent SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:119043391G>C uc001lde.1 - 5 3052 c.2853C>G c.(2851-2853)GTC>GTG p.V951V NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 951 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GAGTTTTAGAGACTTGACGCA 0.433 NaN 0 0 0 0.01441 0 81 218 EBF3 253738 broad.mit.edu 37 10 131761227 131761227 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr10:131761227G>C uc001lki.1 - 3 393 c.334C>G c.(334-336)CTC>GTC p.L112V EBF3_uc010qur.1_3'UTR NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 112 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AATAACTGGAGTTTATAGTGG 0.507 NaN 0 0 0 0.014323 0 21 67 CTSD 1509 broad.mit.edu 37 11 1782613 1782613 + Missense_Mutation SNP C C T rs143517230 byFrequency TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:1782613C>T uc001luc.1 - 2 287 c.154G>A c.(154-156)GTC>ATC p.V52I CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 52 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACTTTGAGACGGGGCCTTTG 0.612 NaN 0 0 0 0.007413 0 19 23 NUP98 4928 broad.mit.edu 37 11 3794940 3794940 + Missense_Mutation SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:3794940T>G uc001lyh.2 - 6 816 c.525A>C c.(523-525)AAA>AAC p.K175N NUP98_uc001lyi.2_Missense_Mutation_p.K175N|NUP98_uc001lyj.1_Missense_Mutation_p.K175N|NUP98_uc001lyk.1_Missense_Mutation_p.K175N|NUP98_uc010qxv.1_Missense_Mutation_p.K138N NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 175 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TAACTCCAGCTTTGACCATAG 0.368 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.00245 0 11 23 OR10A5 144124 broad.mit.edu 37 11 6866955 6866955 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:6866955C>T uc001met.1 + 1 42 c.42C>T c.(40-42)CTC>CTT p.L14L NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AATTTATCCTCATGAGCTTCT 0.413 NaN 0 0 0 0.01441 0 95 125 OR10V1 390201 broad.mit.edu 37 11 59480630 59480630 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:59480630C>T uc001nof.1 - 1 689 c.689G>A c.(688-690)CGG>CAG p.R230Q NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCTGCTGACCGGATCCGTAA 0.502 NaN 0 0 0 0.004289 0 36 66 GAB2 9846 broad.mit.edu 37 11 77991880 77991880 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:77991880T>C uc001ozh.2 - 2 143 c.143A>G c.(142-144)TAC>TGC p.Y48C GAB2_uc001ozg.2_Missense_Mutation_p.Y10C NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 48 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GTTCTTGTAGTATTCCAGAAC 0.507 NaN 0 0 0 0.004878 0 38 71 GRM5 2915 broad.mit.edu 37 11 88301116 88301116 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:88301116C>T uc001pcq.2 - 7 1935 c.1735G>A c.(1735-1737)GAA>AAA p.E579K GRM5_uc009yvm.2_Missense_Mutation_p.E579K NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 579 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCAATGGGTTCAGGGTCACCC 0.488 NaN 0 0 0 0.004007 0 16 25 ATM 472 broad.mit.edu 37 11 108122624 108122624 + Silent SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:108122624A>G uc001pkb.1 + 11 2053 c.1668A>G c.(1666-1668)AAA>AAG p.K556K ATM_uc009yxr.1_Silent_p.K556K NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 556 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAACGGTAAAAATGGGAATAG 0.358 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.01441 0 49 65 GRIK4 2900 broad.mit.edu 37 11 120531041 120531041 + Missense_Mutation SNP C C T rs138617238 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:120531041C>T uc001pxn.2 + 3 301 c.14C>T c.(13-15)TCG>TTG p.S5L GRIK4_uc009zav.1_Missense_Mutation_p.S5L|GRIK4_uc009zaw.1_Missense_Mutation_p.S5L|GRIK4_uc009zax.1_Missense_Mutation_p.S5L NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 5 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CCCCGCGTCTCGGCGCCTTTG 0.647 NaN OREG0021424 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 10 60 HSPA8 3312 broad.mit.edu 37 11 122928487 122928487 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:122928487G>A uc001pyo.2 - 9 1974 c.1896C>T c.(1894-1896)CCC>CCT p.P632P HSPA8_uc009zbc.2_Silent_p.P396P|HSPA8_uc001pyp.2_Silent_p.P479P|HSPA8_uc010rzu.1_Silent_p.P555P NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 632 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACCACCAGAGGGAGGAGCTC 0.512 NaN 0 0 0 0.00245 0 14 78 C11orf45 219833 broad.mit.edu 37 11 128773387 128773387 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:128773387C>A uc001qeu.2 - 3 350 c.156G>T c.(154-156)AGG>AGT p.R52S KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.R52S|C11orf45_uc001qev.2_Missense_Mutation_p.R52S NM_145013 NP_659450 Q8TAV5 CK045_HUMAN hypothetical protein LOC219833 precursor 52 extracellular region 0 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) TACCCTCACTCCTGACAGAGG 0.507 NaN 1 0 0.00198382 0.001984 0.00201935 6 42 DPPA3 359787 broad.mit.edu 37 12 7868804 7868804 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:7868804G>A uc001qtf.2 + 3 416 c.338G>A c.(337-339)AGA>AAA p.R113K NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 113 cytoplasm|nucleus 0 Kidney(36;0.0887) CATGAAAGAAGACCAACAAAC 0.284 NaN 0 0 0 0.001984 0 6 20 CREBL2 1389 broad.mit.edu 37 12 12788795 12788795 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:12788795C>T uc001rap.1 + 2 376 c.100C>T c.(100-102)CGG>TGG p.R34W CREBL2_uc009zhv.1_5'Flank NM_001310 NP_001301 O60519 CRBL2_HUMAN cAMP responsive element binding protein-like 2 34 Basic motif. cell cycle|signal transduction nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Prostate(47;0.0684) BRCA - Breast invasive adenocarcinoma(232;0.0503) TGAGAGGAGCCGGCAGAGTGC 0.488 NaN 0 0 0 0.010729 0 11 14 ARF3 377 broad.mit.edu 37 12 49334730 49334730 + Splice_Site SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:49334730C>G uc001rsr.2 - 2 401 c.148_splice c.e2+1 p.G50_splice ARF3_uc010smc.1_Splice_Site_p.G50_splice NM_001659 NP_001650 P61204 ARF3_HUMAN ADP-ribosylation factor 3 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity 0 TGTGCTCTTACCAATGGTAGG 0.587 NaN 0 0 0 0.01441 0 56 66 LETMD1 25875 broad.mit.edu 37 12 51442969 51442969 + Splice_Site SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:51442969G>A uc001rxm.2 + 2 330 c.274_splice c.e2+1 p.G92_splice LETMD1_uc010smz.1_Splice_Site_p.G92_splice|LETMD1_uc010sna.1_Splice_Site_p.E92_splice|LETMD1_uc001rxl.2_Splice_Site_p.G36_splice|LETMD1_uc009zlv.2_Splice_Site|LETMD1_uc001rxs.2_Splice_Site_p.E92_splice|LETMD1_uc009zlw.2_Splice_Site_p.G92_splice|LETMD1_uc001rxn.2_Splice_Site|LETMD1_uc001rxo.2_Splice_Site|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Splice_Site_p.G92_splice|LETMD1_uc001rxr.2_Splice_Site|LETMD1_uc001rxt.2_Splice_Site NM_015416 NP_056231 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 isoform 1 integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2) 2 TTCATGAAAGGTAAAAACGAA 0.413 NaN 0 0 0 0.001168 0 5 34 KRT7 3855 broad.mit.edu 37 12 52642496 52642496 + Silent SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:52642496T>G uc001saa.1 + 9 1489 c.1362T>G c.(1360-1362)GCT>GCG p.A454A KRT86_uc010snq.1_5'Flank NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 454 Tail. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) TCCTGAAGGCTTATTCCATCC 0.642 NaN 0 0 0 0.006122 0 17 31 STAT6 6778 broad.mit.edu 37 12 57501482 57501482 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:57501482C>T uc009zpe.2 - 3 412 c.161G>A c.(160-162)AGT>AAT p.S54N STAT6_uc009zpf.2_Missense_Mutation_p.S54N|STAT6_uc001sna.2_Missense_Mutation_p.S54N|STAT6_uc010srb.1_Translation_Start_Site|STAT6_uc010src.1_Intron|STAT6_uc010srd.1_Intron|STAT6_uc009zpg.2_Missense_Mutation_p.S103N NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 54 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 AAGTAGGGCACTAGCCAAGTT 0.607 NaN 0 0 0 0.001984 0 5 44 LRP1 4035 broad.mit.edu 37 12 57556105 57556105 + Silent SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:57556105G>T uc001snd.2 + 14 2674 c.2208G>T c.(2206-2208)GTG>GTT p.V736V NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 736 LDL-receptor class B 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTAGATTGTGTATGAAGGTC 0.488 NaN 1 0 1.45844e-13 0.013726 1.60428e-13 33 85 NUP107 57122 broad.mit.edu 37 12 69113358 69113358 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:69113358G>C uc001suf.2 + 14 1290 c.1175G>C c.(1174-1176)GGA>GCA p.G392A NUP107_uc001sug.2_Missense_Mutation_p.G239A|NUP107_uc010stj.1_Missense_Mutation_p.G363A NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 392 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TATTTTATAGGAACAGAATTA 0.308 NaN 0 0 0 0.013537 0 12 34 TMTC2 160335 broad.mit.edu 37 12 83324287 83324287 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:83324287T>C uc001szt.2 + 4 1993 c.1561T>C c.(1561-1563)TAC>CAC p.Y521H TMTC2_uc001szr.1_Missense_Mutation_p.Y521H|TMTC2_uc001szs.1_Missense_Mutation_p.Y521H|TMTC2_uc010suk.1_Missense_Mutation_p.Y276H NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 521 TPR 2. endoplasmic reticulum|integral to membrane binding ovary(2) 2 AAATGCTTTGTACTACCGCAG 0.418 NaN 0 0 0 0.007413 0 17 28 LRRIQ1 84125 broad.mit.edu 37 12 85450778 85450778 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:85450778A>T uc001tac.2 + 8 2318 c.2207A>T c.(2206-2208)TAT>TTT p.Y736F LRRIQ1_uc001tab.1_Missense_Mutation_p.Y736F|LRRIQ1_uc001taa.1_Missense_Mutation_p.Y711F NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 736 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ACCCTTCTATATTCTATTGAA 0.333 NaN 0 0 0 0.01441 0 72 263 GALNT4 8693 broad.mit.edu 37 12 89917268 89917268 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:89917268C>A uc001tbd.2 - 1 1268 c.1059G>T c.(1057-1059)GAG>GAT p.E353D POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.E350D|GALNT4_uc010suo.1_Missense_Mutation_p.E45D NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 353 Catalytic subdomain B.|Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 ACGGGTGGATCTCCAATTTGC 0.522 NaN 1 0 1.73308e-25 0.012319 1.97653e-25 23 125 ATP2B1 490 broad.mit.edu 37 12 90013790 90013790 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:90013790C>G uc001tbh.2 - 10 1996 c.1815G>C c.(1813-1815)GAG>GAC p.E605D ATP2B1_uc001tbg.2_Missense_Mutation_p.E605D|ATP2B1_uc001tbf.2_Missense_Mutation_p.E275D NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 605 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TCAGAATTATCTCAGATGCAC 0.343 NaN 0 0 0 0.012213 0 32 57 BTBD11 121551 broad.mit.edu 37 12 107713306 107713306 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:107713306G>T uc001tmk.1 + 1 1110 c.589G>T c.(589-591)GAC>TAC p.D197Y BTBD11_uc009zut.1_Missense_Mutation_p.D197Y|BTBD11_uc001tmj.2_Missense_Mutation_p.D197Y NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 197 integral to membrane DNA binding skin(2)|ovary(1) 3 CGCCGGCGGCGACCGCCTGGG 0.721 NaN 1 0 0.004672 0.004672 0.00472745 3 4 ATP2A2 488 broad.mit.edu 37 12 110783086 110783086 + Silent SNP G G C rs147309970 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:110783086G>C uc001tqk.3 + 18 3203 c.2640G>C c.(2638-2640)CCG>CCC p.P880P ATP2A2_uc001tql.3_Silent_p.P880P|ATP2A2_uc010sxy.1_Silent_p.P853P|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 880 Lumenal (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 AGGACAACCCGGACTTTGAAG 0.448 NaN 0 0 0 0.01441 0 62 158 ATXN2 6311 broad.mit.edu 37 12 111953957 111953957 + Splice_Site SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:111953957C>T uc001tsj.2 - 10 2017 c.1855_splice c.e10+1 p.G619_splice ATXN2_uc001tsh.2_Splice_Site_p.G354_splice|ATXN2_uc001tsi.2_Splice_Site_p.G330_splice|ATXN2_uc001tsk.2_Splice_Site|ATXN2_uc001tsm.1_Splice_Site_p.G354_splice NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TGGTATTGTACCTTCTGAAGA 0.428 NaN 0 0 0 0.001984 0 6 26 HSPB8 26353 broad.mit.edu 37 12 119617346 119617346 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:119617346G>T uc001txb.2 + 1 752 c.229G>T c.(229-231)GCC>TCC p.A77S HSPB8_uc001txc.2_Missense_Mutation_p.A77S NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 77 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CACTGCCACCGCCAGGTTTGG 0.672 NaN 1 0 0.00010058 0.013537 0.000104886 13 40 VPS37B 79720 broad.mit.edu 37 12 123355588 123355588 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:123355588G>A uc001udl.2 - 2 235 c.132C>T c.(130-132)AAC>AAT p.N44N NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 44 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TCATTTCTTTGTTAAGCTGAA 0.502 NaN 0 0 0 0.003163 0 15 45 SBNO1 55206 broad.mit.edu 37 12 123815916 123815916 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:123815916C>T uc010tap.1 - 7 916 c.916G>A c.(916-918)GAA>AAA p.E306K SBNO1_uc010tao.1_Missense_Mutation_p.E305K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E306K|SBNO1_uc001ueu.2_Missense_Mutation_p.E305K|SBNO1_uc001uev.2_Missense_Mutation_p.E304K|SBNO1_uc009zxy.1_Missense_Mutation_p.E271K NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 306 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AGGAAAGTTTCATGTTGCTGA 0.363 NaN 0 0 0 0.010504 0 21 45 MTMR6 9107 broad.mit.edu 37 13 25832777 25832777 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:25832777G>C uc001uqf.3 - 7 1099 c.780C>G c.(778-780)AAC>AAG p.N260K MTMR6_uc001uqe.1_Missense_Mutation_p.N260K NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 260 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TATTGGAATAGTTGTCTTCAT 0.294 NaN 0 0 0 0.004007 0 16 30 AKAP11 11215 broad.mit.edu 37 13 42877222 42877222 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:42877222A>G uc001uys.1 + 8 4515 c.4340A>G c.(4339-4341)TAT>TGT p.Y1447C NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1447 LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117). intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CTGGATCCATATAGAAATGAG 0.388 NaN 0 0 0 0.007835 0 39 87 RB1 5925 broad.mit.edu 37 13 49039203 49039203 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 A C A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:49039203A>C uc001vcb.2 + 22 2447 c.2281A>C c.(2281-2283)ATG>CTG p.M761L NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 761 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8)|p.M761fs*4(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCGGTCTTCATGCAGAGACT 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.006214 0 9 50 FARP1 10160 broad.mit.edu 37 13 99020427 99020427 + Nonsense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:99020427C>T uc001vnj.2 + 5 712 c.376C>T c.(376-378)CAA>TAA p.Q126* FARP1_uc001vnh.2_Nonsense_Mutation_p.Q126* NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 126 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGACCACACACAACTCCAAGA 0.373 NaN 0 0 0 0.001168 0 6 38 TNFSF13B 10673 broad.mit.edu 37 13 108922250 108922250 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:108922250G>C uc001vqr.2 + 1 274 c.7G>C c.(7-9)GAC>CAC p.D3H TNFSF13B_uc010agj.2_Missense_Mutation_p.D3H NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 3 Cytoplasmic (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) TGATATGGATGACTCCACAGA 0.443 NaN 0 0 0 0.006999 0 39 64 RNASE7 84659 broad.mit.edu 37 14 21511342 21511342 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:21511342G>T uc001vzk.3 + 2 448 c.191G>T c.(190-192)CGG>CTG p.R64L NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA NM_032572 NP_115961 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 precursor 64 defense response to bacterium|innate immune response extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) CACACAAAACGGTGCAAAGAC 0.502 NaN 1 0 6.32553e-13 0.004656 6.89139e-13 25 80 LRP10 26020 broad.mit.edu 37 14 23346425 23346425 + Nonsense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:23346425G>T uc001whd.2 + 7 2384 c.1831G>T c.(1831-1833)GAG>TAG p.E611* LRP10_uc001whe.2_Intron NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 611 Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCAAGATGGGGAGCAGGCACC 0.667 NaN 1 0 4.96729e-08 0.008871 5.30986e-08 21 58 PRKD1 5587 broad.mit.edu 37 14 30098274 30098274 + Silent SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:30098274T>C uc001wqh.2 - 11 1879 c.1698A>G c.(1696-1698)GTA>GTG p.V566V NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 566 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGCAATTTGATACTGAAATAC 0.299 NaN 0 0 0 0.004656 0 24 62 COCH 1690 broad.mit.edu 37 14 31355167 31355167 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:31355167A>T uc001wqr.2 + 11 1206 c.1126A>T c.(1126-1128)AGC>TGC p.S376C COCH_uc001wqp.2_Missense_Mutation_p.S376C|COCH_uc001wqq.3_Missense_Mutation_p.S376C|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.S227C NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 376 VWFA 2. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TGATGGCTCCAGCAGTGTTGG 0.438 NaN 0 0 0 0.009535 0 32 64 NUBPL 80224 broad.mit.edu 37 14 32031321 32031321 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:32031321C>T uc001wrk.3 + 2 211 c.156C>T c.(154-156)ATC>ATT p.I52I NUBPL_uc010amj.2_RNA NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 52 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) GAACACAAATCATGTCCCGAG 0.398 NaN 0 0 0 0.001168 0 6 24 MIA2 117153 broad.mit.edu 37 14 39716256 39716256 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:39716256C>A uc001wux.2 + 4 672 c.478C>A c.(478-480)CAG>AAG p.Q160K MIA2_uc010amy.1_Missense_Mutation_p.Q91K NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 160 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) AAGTGATTTTCAGATAGAACC 0.323 NaN 1 0 7.92952e-12 0.003954 8.55686e-12 26 53 ZC3H14 79882 broad.mit.edu 37 14 89069337 89069337 + Silent SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:89069337C>G uc001xww.2 + 12 1905 c.1680C>G c.(1678-1680)CTC>CTG p.L560L ZC3H14_uc010twd.1_Silent_p.L560L|ZC3H14_uc010twe.1_Silent_p.L560L|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Silent_p.L105L|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 560 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 TCAGAGGTCTCCTCCACCCAC 0.512 NaN 0 0 0 0.00499 0 15 45 GPR68 8111 broad.mit.edu 37 14 91700960 91700960 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:91700960G>A uc001xzg.2 - 2 776 c.435C>T c.(433-435)ATC>ATT p.I145I GPR68_uc001xzh.2_Silent_p.I155I NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 145 Helical; Name=4; (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CCTTGGCCCAGATGACCACGC 0.627 NaN 0 0 0 0.006214 0 9 32 NUDT14 256281 broad.mit.edu 37 14 105642983 105642983 + Missense_Mutation SNP C C G rs138979378 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:105642983C>G uc010tyn.1 - 4 430 c.316G>C c.(316-318)GGC>CGC p.G106R NUDT14_uc001yqi.2_RNA NM_177533 NP_803877 O95848 NUD14_HUMAN nudix-type motif 14 106 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity skin(1) 1 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TCCACGAGGCCGGCACACAGC 0.677 NaN HNSCC(42;0.11) 0 0 0 0.006122 0 19 60 TJP1 7082 broad.mit.edu 37 15 30010801 30010801 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:30010801C>A uc001zcr.2 - 21 4020 c.3545G>T c.(3544-3546)GGG>GTG p.G1182V TJP1_uc010azl.2_Missense_Mutation_p.G1170V|TJP1_uc001zcq.2_Missense_Mutation_p.G1106V|TJP1_uc001zcs.2_Missense_Mutation_p.G1102V NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1182 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AGGCTTGGGCCCTGCTGAAGG 0.557 NaN 1 0 7.87624e-14 0.00278 8.69191e-14 23 66 SLC12A6 9990 broad.mit.edu 37 15 34628777 34628777 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:34628777G>A uc001zhw.2 - 1 269 c.105C>T c.(103-105)CTC>CTT p.L35L SLC12A6_uc001zhx.2_Silent_p.L35L|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_5'UTR|SLC12A6_uc001zib.2_Silent_p.L26L|SLC12A6_uc001zic.2_Silent_p.L35L|SLC12A6_uc010bau.2_Silent_p.L35L|SLC12A6_uc001zid.2_5'UTR NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 35 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ATCGAGAGCTGAGGTCCGGAC 0.527 NaN 0 0 0 0.006122 0 14 54 MFAP1 4236 broad.mit.edu 37 15 44109632 44109632 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:44109632C>T uc001zth.1 - 2 278 c.94G>A c.(94-96)GAA>AAA p.E32K NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 32 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TTCACTTTTTCCATTGAAATC 0.433 NaN 0 0 0 0.008361 0 28 68 SECISBP2L 9728 broad.mit.edu 37 15 49320761 49320761 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:49320761C>G uc001zxe.1 - 5 917 c.783G>C c.(781-783)CAG>CAC p.Q261H SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q261H|SECISBP2L_uc010bep.1_Missense_Mutation_p.Q23H|SECISBP2L_uc010beq.1_Intron NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 261 breast(1)|skin(1) 2 CACTAGCCCCCTGCTCACTAG 0.512 NaN 0 0 0 0.008361 0 31 87 VPS13C 54832 broad.mit.edu 37 15 62182381 62182381 + Silent SNP G G A rs113570828 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:62182381G>A uc002agz.2 - 67 9398 c.9324C>T c.(9322-9324)TCC>TCT p.S3108S VPS13C_uc002aha.2_Silent_p.S3065S|VPS13C_uc002ahb.1_Silent_p.S3108S|VPS13C_uc002ahc.1_Silent_p.S3065S NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3108 protein localization ovary(2) 2 TCCCAATATAGGAAACTTCCT 0.373 NaN 0 0 0 0.008871 0 19 50 RAB8B 51762 broad.mit.edu 37 15 63541870 63541870 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:63541870G>A uc002alz.2 + 3 308 c.212G>A c.(211-213)CGA>CAA p.R71Q RAB8B_uc010uih.1_Missense_Mutation_p.R71Q NM_016530 NP_057614 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 71 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1)|kidney(1) 2 GAAAGATTCCGAACAATCACG 0.448 NaN 0 0 0 0.010729 0 9 25 HERC1 8925 broad.mit.edu 37 15 63970149 63970149 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:63970149C>G uc002amp.2 - 37 7113 c.6965G>C c.(6964-6966)CGG>CCG p.R2322P NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2322 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GTGAACACACCGACCTCCAAC 0.557 NaN 0 0 0 0.010818 0 31 91 KIAA1024 23251 broad.mit.edu 37 15 79750750 79750750 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:79750750C>T uc002bew.1 + 2 2336 c.2261C>T c.(2260-2262)CCA>CTA p.P754L KIAA1024_uc010unk.1_Missense_Mutation_p.P754L NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 754 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GACACAGGCCCAGGAGATAAT 0.453 NaN 0 0 0 0.006122 0 17 63 SELS 55829 broad.mit.edu 37 15 101813019 101813019 + Nonsense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr15:101813019C>T uc010use.1 - 6 605 c.527G>A c.(526-528)TGG>TAG p.W176* SELS_uc010usf.1_Nonsense_Mutation_p.W176* NM_203472 NP_982298 Q9BQE4 SELS_HUMAN selenoprotein S 176 anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle antioxidant activity|enzyme binding|receptor activity|selenium binding 0 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCAGGTCTCCAGGAGCAAGC 0.478 NaN 0 0 0 0.000602 0 5 13 CACNA1H 8912 broad.mit.edu 37 16 1248648 1248648 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:1248648C>T uc002cks.2 + 6 925 c.677C>T c.(676-678)ACG>ATG p.T226M CACNA1H_uc002ckt.2_Missense_Mutation_p.T226M NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 226 Cytoplasmic (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ctgctggatacgctgcccatg 0.478 NaN 0 0 0 0.009718 0 40 70 MRPS34 65993 broad.mit.edu 37 16 1822451 1822451 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:1822451G>C uc002cmo.2 - 3 448 c.428C>G c.(427-429)CCC>CGC p.P143R NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_Missense_Mutation_p.P9R|MRPS34_uc002cmp.1_Missense_Mutation_p.P150R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_023936 NP_076425 P82930 RT34_HUMAN mitochondrial ribosomal protein S34 143 mitochondrion|ribosome protein binding skin(2) 2 CTCGTGCTTGGGCACCAGCCG 0.627 NaN 0 0 0 0.004289 0 33 114 ZSCAN10 84891 broad.mit.edu 37 16 3139752 3139752 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:3139752C>G uc002ctv.1 - 5 1606 c.1518G>C c.(1516-1518)CAG>CAC p.Q506H ZSCAN10_uc002cty.1_Missense_Mutation_p.Q167H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.Q424H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.Q434H NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 506 C2H2-type 7. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GCTGCGAGCTCTGCGTGAAGC 0.716 NaN 0 0 0 0.001984 0 7 4 CREBBP 1387 broad.mit.edu 37 16 3788651 3788651 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:3788651C>G uc002cvv.2 - 26 4507 c.4303G>C c.(4303-4305)GAT>CAT p.D1435H CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1435 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.D1435G(1)|p.D1435E(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGAATACTATCCAGATAAGAA 0.433 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.010729 0 12 19 NMRAL1 57407 broad.mit.edu 37 16 4511813 4511813 + Nonsense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:4511813C>A uc002cwm.2 - 6 1024 c.868G>T c.(868-870)GAA>TAA p.E290* NMRAL1_uc002cwn.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwo.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwp.2_Nonsense_Mutation_p.E326* NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 290 nucleus|perinuclear region of cytoplasm binding kidney(1) 1 TTGTGCTGTTCCAGCCACTGG 0.622 NaN 1 0 5.20006e-24 0.011902 5.91074e-24 46 81 SEZ6L2 26470 broad.mit.edu 37 16 29908193 29908193 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:29908193G>A uc002duq.3 - 3 701 c.461C>T c.(460-462)ACG>ATG p.T154M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T154M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T154M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T110M NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 154 Thr-rich.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GATGGTGGTCGTCGTCTCCTC 0.672 NaN 0 0 0 0.005443 0 21 43 VPS35 55737 broad.mit.edu 37 16 46705699 46705699 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:46705699G>A uc002eef.3 - 12 1541 c.1442C>T c.(1441-1443)CCA>CTA p.P481L VPS35_uc002eed.2_Missense_Mutation_p.P302L|VPS35_uc002eee.2_Missense_Mutation_p.P442L NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 481 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AAAATCTTCTGGATCAGGGTC 0.483 NaN 0 0 0 0.003163 0 16 33 ABCC11 85320 broad.mit.edu 37 16 48244929 48244929 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:48244929G>A uc002eff.1 - 10 1888 c.1538C>T c.(1537-1539)GCC>GTC p.A513V ABCC11_uc002efg.1_Missense_Mutation_p.A513V|ABCC11_uc002efh.1_Missense_Mutation_p.A513V|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 513 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGGCCCGAGGGCATCTCTAGG 0.607 NaN Cerumen_Type 0 0 0 0.007413 0 20 54 SLC12A3 6559 broad.mit.edu 37 16 56921870 56921870 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:56921870C>G uc010ccm.2 + 18 2241 c.2212C>G c.(2212-2214)CTG>GTG p.L738V SLC12A3_uc002ekd.3_Missense_Mutation_p.L738V|SLC12A3_uc010ccn.2_Missense_Mutation_p.L737V NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 738 Cytoplasmic (Potential). L -> R (in GS). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCCCAACATTCTGGTGGTTGG 0.602 NaN 0 0 0 0.012319 0 20 44 CDH16 1014 broad.mit.edu 37 16 66944399 66944399 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:66944399G>C uc002eql.2 - 15 2004 c.1931C>G c.(1930-1932)CCG>CGG p.P644R CDH16_uc010cdy.2_Intron|CDH16_uc002eqm.2_Missense_Mutation_p.P547R NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 644 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCTCAGTCTCGGCTCATCTGC 0.652 NaN 0 0 0 0.005443 0 26 48 FBXL8 55336 broad.mit.edu 37 16 67197579 67197579 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:67197579C>T uc002erj.1 + 3 1101 c.981C>T c.(979-981)TGC>TGT p.C327C FBXL8_uc002erk.1_Silent_p.C327C|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank NM_018378 NP_060848 Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 327 protein binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) CGGCGCGCTGCGCGGCCCTGC 0.716 NaN 0 0 0 0.006214 0 10 14 NFAT5 10725 broad.mit.edu 37 16 69726188 69726188 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:69726188A>C uc002exm.1 + 12 3614 c.2406A>C c.(2404-2406)TTA>TTC p.L802F NFAT5_uc002exi.2_Missense_Mutation_p.L726F|NFAT5_uc002exj.1_Missense_Mutation_p.L726F|NFAT5_uc002exk.1_Missense_Mutation_p.L726F|NFAT5_uc002exl.1_Missense_Mutation_p.L820F|NFAT5_uc002exn.1_Missense_Mutation_p.L819F|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 802 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AACAAGTTTTAGAGGCACAGC 0.438 NaN 0 0 0 0.007291 0 29 119 ZNF276 92822 broad.mit.edu 37 16 89789221 89789221 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:89789221G>C uc002fos.3 + 2 585 c.488G>C c.(487-489)GGT>GCT p.G163A C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88A|ZNF276_uc002foq.3_Missense_Mutation_p.G88A|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TCCCCGGCTGGTCGCCGGAAG 0.592 NaN 0 0 0 0.004007 0 17 59 OR3A1 4994 broad.mit.edu 37 17 3194930 3194930 + Nonstop_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:3194930C>G uc002fvh.1 - 1 947 c.947G>C c.(946-948)TGA>TCA p.*316S NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 GAGACCTCCTCAAGCCAGTGA 0.473 NaN 0 0 0 0.001855 0 13 56 ZZEF1 23140 broad.mit.edu 37 17 3957435 3957435 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:3957435C>T uc002fxe.2 - 34 5414 c.5350G>A c.(5350-5352)GAT>AAT p.D1784N ZZEF1_uc002fxh.2_Missense_Mutation_p.D98N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D19N|ZZEF1_uc002fxj.1_Missense_Mutation_p.D397N NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1784 ZZ-type 1. calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCACACCCATCACAAGAGATG 0.438 NaN 0 0 0 0.003163 0 16 77 CHRNE 1145 broad.mit.edu 37 17 4805975 4805975 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:4805975C>T uc002fzk.1 - 2 141 c.130G>A c.(130-132)GAG>AAG p.E44K C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN nicotinic acetylcholine receptor epsilon 44 Extracellular (Potential). muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 TCCTCAGGCTCCCGCACTGGC 0.542 NaN 0 0 0 0.01441 0 60 109 TP53 7157 broad.mit.edu 37 17 7577079 7577079 + Nonsense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:7577079C>A uc002gim.2 - 8 1053 c.859G>T c.(859-861)GAG>TAG p.E287* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E287*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E155*|TP53_uc010cng.1_Nonsense_Mutation_p.E155*|TP53_uc002gii.1_Nonsense_Mutation_p.E155*|TP53_uc010cnh.1_Nonsense_Mutation_p.E287*|TP53_uc010cni.1_Nonsense_Mutation_p.E287*|TP53_uc002gij.2_Nonsense_Mutation_p.E287* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 287 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N288fs*13(17)|p.E287*(8)|p.0?(7)|p.E287K(6)|p.E287E(5)|p.E287G(2)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287V(1)|p.E287fs*17(1)|p.E287A(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(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) CGGAGATTCTCTTCCTCTGTG 0.567 111 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) 1 0 3.62473e-10 0.012319 3.89916e-10 22 21 NCOR1 9611 broad.mit.edu 37 17 15973488 15973488 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 T A T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:15973488T>A uc002gpo.2 - 31 4744 c.4504A>T c.(4504-4506)ACT>TCT p.T1502S NCOR1_uc002gpn.2_Missense_Mutation_p.T1518S|NCOR1_uc002gpp.1_Missense_Mutation_p.T1409S|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.T86S|NCOR1_uc010coy.2_Missense_Mutation_p.T410S|NCOR1_uc010vwc.1_Missense_Mutation_p.T313S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1502 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CCATCAGAAGTTCTGTTCATC 0.383 NaN 0 0 0 0.00623 0 36 151 TOP3A 7156 broad.mit.edu 37 17 18181485 18181485 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:18181485G>A uc002gsx.1 - 18 2560 c.2331C>T c.(2329-2331)AAC>AAT p.N777N TOP3A_uc010cpz.1_Silent_p.N229N|TOP3A_uc010vxr.1_Silent_p.N307N|TOP3A_uc002gsw.1_Silent_p.N229N|TOP3A_uc010vxs.1_Silent_p.N675N NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 777 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GGTGCTGGCTGTTGTCCATCC 0.632 NaN 0 0 0 0.012319 0 20 92 TRIM16L 147166 broad.mit.edu 37 17 18638504 18638504 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:18638504T>A uc002gug.1 + 10 1465 c.778T>A c.(778-780)TTC>ATC p.F260I TRIM16L_uc010vyf.1_Missense_Mutation_p.F314I|TRIM16L_uc002guh.1_Missense_Mutation_p.F260I|TRIM16L_uc010cqg.1_Missense_Mutation_p.F362I|TRIM16L_uc002gui.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyg.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 260 B30.2/SPRY. cytoplasm 0 CGGGAAGGAGTTCACGGCCTG 0.557 NaN 0 0 0 0.00499 0 13 82 FBXL20 84961 broad.mit.edu 37 17 37427047 37427047 + Splice_Site SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:37427047A>T uc010wed.1 - 11 1109 c.888_splice c.e11+1 p.R296_splice FBXL20_uc002hrt.2_Splice_Site_p.R296_splice|FBXL20_uc010cvu.2_Splice_Site_p.R264_splice NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) GAAAATACTTACCCTGGCTAG 0.358 NaN 0 0 0 0.008871 0 17 17 KIAA1267 284058 broad.mit.edu 37 17 44248600 44248600 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:44248600G>C uc002ikb.2 - 1 995 c.910C>G c.(910-912)CGC>GGC p.R304G KIAA1267_uc002ikc.2_Missense_Mutation_p.R304G|KIAA1267_uc002ikd.2_Missense_Mutation_p.R304G|KIAA1267_uc010dav.2_Missense_Mutation_p.R304G NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 304 Potential. MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) ACCTGTAAGCGCTTTTGTAAT 0.468 NaN 0 0 0 0.014323 0 23 143 TLK2 11011 broad.mit.edu 37 17 60654136 60654136 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:60654136G>C uc010ddp.2 + 14 1522 c.1254G>C c.(1252-1254)AAG>AAC p.K418N TLK2_uc002izx.3_Missense_Mutation_p.K244N|TLK2_uc002izz.3_Missense_Mutation_p.K396N|TLK2_uc002jaa.3_Missense_Mutation_p.K364N|TLK2_uc010wpd.1_Missense_Mutation_p.K364N NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 418 Potential. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 ATCTTAAAAAGGTAAGTATAA 0.343 NaN 0 0 0 0.01441 0 59 40 PRKCA 5578 broad.mit.edu 37 17 64299005 64299005 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:64299005G>A uc002jfp.1 + 1 80 c.36G>A c.(34-36)GCG>GCA p.A12A PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 12 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ACTCCACGGCGTCTCAGGACG 0.602 NaN 0 0 0 0.006122 0 19 27 CASKIN2 57513 broad.mit.edu 37 17 73498037 73498037 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:73498037C>T uc002joc.2 - 18 3668 c.3118G>A c.(3118-3120)GAG>AAG p.E1040K CASKIN2_uc010wsc.1_Missense_Mutation_p.E958K NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 1040 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCTGGGCTCGGGCTGGGGA 0.697 NaN 0 0 0 0.007291 0 29 57 ARHGAP28 79822 broad.mit.edu 37 18 6890047 6890047 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:6890047T>A uc010wzi.1 + 12 1404 c.1166T>A c.(1165-1167)ATC>AAC p.I389N ARHGAP28_uc002knc.2_Missense_Mutation_p.I514N|ARHGAP28_uc002knd.2_Missense_Mutation_p.I407N|ARHGAP28_uc002kne.2_Missense_Mutation_p.I407N|ARHGAP28_uc002knf.2_Missense_Mutation_p.I398N B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 389 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) GCCCACATCATCCGCCTAATG 0.443 NaN 0 0 0 0.01441 0 47 98 ANKRD29 147463 broad.mit.edu 37 18 21226188 21226188 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:21226188C>T uc002kun.2 - 3 353 c.196G>A c.(196-198)GTT>ATT p.V66I ANKRD29_uc002kuo.2_Missense_Mutation_p.V66I NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 66 ANK 2. ovary(3)|breast(1) 4 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTTGCAGAACCAGTTCCCTC 0.498 NaN 0 0 0 0.004007 0 15 43 KLHL14 57565 broad.mit.edu 37 18 30350174 30350174 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:30350174C>T uc002kxm.1 - 2 769 c.381G>A c.(379-381)CTG>CTA p.L127L NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 127 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 AGCAGCCCTGCAGCACCAGGT 0.587 NaN 0 0 0 0.011902 0 38 118 NEDD4L 23327 broad.mit.edu 37 18 56033354 56033354 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:56033354G>A uc002lgy.2 + 21 2231 c.1957G>A c.(1957-1959)GAA>AAA p.E653K NEDD4L_uc002lgz.2_Missense_Mutation_p.E589K|NEDD4L_uc002lgx.2_Missense_Mutation_p.E633K|NEDD4L_uc010xee.1_Missense_Mutation_p.E532K|NEDD4L_uc002lhc.2_Missense_Mutation_p.E645K|NEDD4L_uc002lhd.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhb.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhe.2_Missense_Mutation_p.E625K|NEDD4L_uc002lhf.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhg.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhh.2_Missense_Mutation_p.E428K|NEDD4L_uc010dpn.2_5'UTR NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 653 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 GATTGAGTTTGAATCAGAGAA 0.418 NaN 0 0 0 0.013537 0 12 13 RTTN 25914 broad.mit.edu 37 18 67860668 67860668 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:67860668G>A uc002lkp.2 - 8 931 c.863C>T c.(862-864)TCT>TTT p.S288F RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S288F NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 288 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) ATAAGACAAAGAAGAATTTTG 0.418 NaN 0 0 0 0.003163 0 14 42 C19orf25 148223 broad.mit.edu 37 19 1475148 1475148 + Silent SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:1475148G>T uc002lsy.3 - 2 455 c.240C>A c.(238-240)GGC>GGA p.G80G C19orf25_uc010xgn.1_Intron|C19orf25_uc010dsk.2_Silent_p.G80G|C19orf25_uc010xgo.1_Silent_p.G120G|C19orf25_uc002lsx.1_3'UTR NM_152482 NP_689695 Q9UFG5 CS025_HUMAN hypothetical protein LOC148223 80 protein binding 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGCACGTTGCCCGCCTGCT 0.672 NaN 1 0 0.00198382 0.001984 0.00201935 7 4 PTPRS 5802 broad.mit.edu 37 19 5258028 5258028 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:5258028C>T uc002mbv.2 - 8 940 c.706G>A c.(706-708)GAG>AAG p.E236K PTPRS_uc002mbu.1_Missense_Mutation_p.V227I|PTPRS_uc010xin.1_Missense_Mutation_p.V227I|PTPRS_uc002mbw.2_Missense_Mutation_p.V227I|PTPRS_uc002mbx.2_Missense_Mutation_p.E227K|PTPRS_uc002mby.2_Missense_Mutation_p.V227I NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 236 Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CGTTCCCTACCTCGCACGTAG 0.662 NaN 0 0 0 0.010818 0 32 59 RPL36 25873 broad.mit.edu 37 19 5691448 5691448 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:5691448A>C uc002mcv.2 + 3 281 c.212A>C c.(211-213)AAA>ACA p.K71T RPL36_uc002mcw.2_Missense_Mutation_p.K71T NM_033643 NP_378669 Q9Y3U8 RL36_HUMAN ribosomal protein L36 71 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome 0 CGGGCCCTCAAATTTATCAAG 0.647 NaN OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 26 67 NRTN 4902 broad.mit.edu 37 19 5824219 5824219 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:5824219A>G uc002mde.2 + 1 402 c.43A>G c.(43-45)AGC>GGC p.S15G NM_004558 NP_004549 Q99748 NRTN_HUMAN neurturin preproprotein 15 axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region growth factor activity 0 AGTGCTCTGCAGCTCCGTGCT 0.697 NaN 0 0 0 0.001168 0 6 17 MCOLN1 57192 broad.mit.edu 37 19 7592790 7592790 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:7592790A>G uc002mgo.2 + 6 846 c.721A>G c.(721-723)AAC>GAC p.N241D MCOLN1_uc002mgp.2_Missense_Mutation_p.N206D NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN mucolipin 1 241 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(1) 1 GAAGACCATTAACCTCCAGAG 0.612 NaN 0 0 0 0.003163 0 14 48 MUC16 94025 broad.mit.edu 37 19 9086960 9086960 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:9086960C>G uc002mkp.2 - 1 5059 c.4855G>C c.(4855-4857)GAG>CAG p.E1619Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1619 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 GGGCCAGTCTCAATCTCTCTG 0.512 NaN 0 0 0 0.01441 0 57 117 STX10 8677 broad.mit.edu 37 19 13255242 13255242 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:13255242G>C uc010xnb.1 - 8 732 c.732C>G c.(730-732)ATC>ATG p.I244M STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.I145M NM_003765 NP_003756 O60499 STX10_HUMAN syntaxin 10 244 Helical; Anchor for type IV membrane protein; (Potential). Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) AGAATAGTAAGATGAGAACGA 0.627 NaN 0 0 0 0.001984 0 7 10 C19orf57 79173 broad.mit.edu 37 19 14000223 14000223 + Silent SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:14000223C>G uc002mxl.1 - 6 1505 c.1446G>C c.(1444-1446)GTG>GTC p.V482V C19orf57_uc002mxk.1_Silent_p.V364V|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 482 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGTGTTCCAGCACAACAGAGG 0.622 NaN 0 0 0 0.003954 0 25 71 DPY19L3 147991 broad.mit.edu 37 19 32930033 32930033 + Silent SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:32930033A>G uc002ntg.2 + 7 788 c.612A>G c.(610-612)AGA>AGG p.R204R DPY19L3_uc002nth.1_Silent_p.R204R|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 204 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) ATACCACAAGAGTTGAGTTTA 0.393 NaN 0 0 0 0.01441 0 55 91 CHST8 64377 broad.mit.edu 37 19 34180217 34180217 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:34180217T>A uc002nus.3 + 3 555 c.50T>A c.(49-51)ATC>AAC p.I17N CHST8_uc002nut.3_Missense_Mutation_p.I17N|CHST8_uc002nuu.2_Missense_Mutation_p.I17N NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 17 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) TTCTCTTCCATCCTGCTGTTC 0.647 NaN 0 0 0 0.003954 0 27 134 ZNF529 57711 broad.mit.edu 37 19 37045699 37045699 + Splice_Site SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:37045699C>A uc002oeh.3 - 4 311 c.109_splice c.e4-1 p.E37_splice ZNF529_uc010xth.1_Splice_Site_p.E37_splice|ZNF529_uc010xti.1_Splice_Site_p.E19_splice|ZNF529_uc002oeg.3_Splice_Site NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TCACCAGTTCCTGAAACAACA 0.413 NaN 1 0 0.000602214 0.000602 0.000622288 4 7 RYR1 6261 broad.mit.edu 37 19 38939069 38939070 + Missense_Mutation DNP TC TC AA TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:38939069_38939070TC>AA uc002oit.2 + 10 1005_1006 c.875_876TC>AA c.(874-876)CTC>CAA p.L292Q RYR1_uc002oiu.2_Missense_Mutation_p.L292Q NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 292 MIR 4.|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) TACCTAGCGCTCACCGAGGACC 0.649 NaN 0 0 0 0.004672 0 20 271 PAK4 10298 broad.mit.edu 37 19 39660239 39660239 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:39660239A>C uc002okj.1 + 4 507 c.46A>C c.(46-48)AAC>CAC p.N16H PAK4_uc002okl.1_Missense_Mutation_p.N16H|PAK4_uc002okn.1_Missense_Mutation_p.N16H|PAK4_uc002okm.1_Missense_Mutation_p.N16H|PAK4_uc002oko.1_Missense_Mutation_p.N16H|PAK4_uc002okp.1_Missense_Mutation_p.N16H NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 16 CRIB. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CGCGCCGTCCAACTTCGAGCA 0.657 NaN 0 0 0 0.01441 0 52 91 SPTBN4 57731 broad.mit.edu 37 19 41035036 41035036 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:41035036G>A uc002ony.2 + 18 4032 c.3946G>A c.(3946-3948)GAG>AAG p.E1316K SPTBN4_uc002onx.2_Missense_Mutation_p.E1316K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1316K|SPTBN4_uc010egx.2_Missense_Mutation_p.E59K|SPTBN4_uc010egy.1_5'Flank|SPTBN4_uc002ooa.2_5'Flank|SPTBN4_uc010egz.1_5'Flank NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1316 Spectrin 11. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGACTGCCACGAGGTAGGAAC 0.597 NaN OREG0025472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 19 72 B3GNT8 374907 broad.mit.edu 37 19 41932181 41932181 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:41932181C>G uc002oqs.2 - 3 957 c.503G>C c.(502-504)AGA>ACA p.R168T CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 168 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 CCACGTCTCTCTCACGGCCTG 0.627 NaN 0 0 0 0.01441 0 51 96 MARK4 57787 broad.mit.edu 37 19 45767973 45767973 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:45767973G>A uc002pbb.1 + 5 392 c.387G>A c.(385-387)AAG>AAA p.K129K MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.K129K|MARK4_uc002pbc.1_5'UTR Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 129 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGACTGAGAAGACGCTGTACC 0.577 NaN 0 0 0 0.01441 0 87 51 PPP1R13L 10848 broad.mit.edu 37 19 45895489 45895489 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:45895489G>A uc002pbn.2 - 8 1541 c.1464C>T c.(1462-1464)CTC>CTT p.L488L PPP1R13L_uc002pbm.2_Silent_p.L67L|PPP1R13L_uc002pbo.2_Silent_p.L488L NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 488 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCGTGGGGCTGAGAGGCCTTG 0.672 NaN 0 0 0 0.007291 0 31 27 LMTK3 114783 broad.mit.edu 37 19 49013790 49013790 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:49013790A>G uc002pjk.2 - 3 223 c.223T>C c.(223-225)TGC>CGC p.C75R NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) AGGCCGGAGCAGGAAATGAGG 0.622 NaN 0 0 0 0.001984 0 6 3 ALDH16A1 126133 broad.mit.edu 37 19 49971709 49971709 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:49971709C>T uc002pnt.2 + 15 2126 c.2010C>T c.(2008-2010)GAC>GAT p.D670D ALDH16A1_uc010yar.1_Silent_p.D619D|ALDH16A1_uc010yas.1_Silent_p.D505D|ALDH16A1_uc010yat.1_Silent_p.D507D NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 670 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGTGTCCGGACGAGTGGCCCC 0.701 NaN 0 0 0 0.01441 0 114 79 CACNG8 59283 broad.mit.edu 37 19 54483176 54483176 + Silent SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:54483176C>G uc002qcs.1 + 3 526 c.420C>G c.(418-420)CTC>CTG p.L140L MIR935_hsa-mir-935|MI0005757_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 141 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) TGCTGCTGCTCGGGGGTGTGT 0.637 NaN 0 0 0 0.007413 0 17 7 BRSK1 84446 broad.mit.edu 37 19 55814746 55814746 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:55814746G>A uc002qkg.2 + 11 1373 c.1096G>A c.(1096-1098)GAC>AAC p.D366N BRSK1_uc002qkf.2_Missense_Mutation_p.D382N|BRSK1_uc002qkh.2_Missense_Mutation_p.D61N NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 366 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CAGCTGTGAGGACCAGGACCT 0.473 NaN 0 0 0 0.00278 0 23 94 PEG3 5178 broad.mit.edu 37 19 57335915 57335915 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr19:57335915C>T uc002qnu.2 - 1 460 c.109G>A c.(109-111)GAA>AAA p.E37K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E37K|PEG3_uc002qnv.2_Missense_Mutation_p.E37K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.E37K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 37 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTTGGACCTTCTCCTATGATG 0.473 NaN 0 0 0 0.01441 0 72 41 RHOB 388 broad.mit.edu 37 2 20647449 20647449 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:20647449C>A uc002rdv.2 + 1 615 c.223C>A c.(223-225)CCG>ACG p.P75T NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 75 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCTCTCCTACCCGGACACCGA 0.647 NaN 1 0 1.37522e-17 0.007413 1.5426e-17 20 113 COMMD1 150684 broad.mit.edu 37 2 62227996 62227996 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:62227996G>T uc002sbp.2 + 2 352 c.341G>T c.(340-342)CGC>CTC p.R114L COMMD1_uc002sbq.1_RNA NM_152516 NP_689729 Q8N668 COMD1_HUMAN MURR1 114 copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus copper ion binding|protein homodimerization activity ovary(1) 1 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) AACCAGAGCCGCTGGAATAGC 0.502 NaN 1 0 5.8336e-16 0.003271 6.45863e-16 36 36 AUP1 550 broad.mit.edu 37 2 74754952 74754952 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:74754952T>C uc010yrx.1 - 7 1049 c.923A>G c.(922-924)GAA>GGA p.E308G DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'UTR|AUP1_uc002smf.2_Missense_Mutation_p.E251G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.E160G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 317 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 CTGGCCCAATTCCTTGGCCAC 0.567 NaN 0 0 0 0.007291 0 30 149 LOXL3 84695 broad.mit.edu 37 2 74776495 74776495 + Splice_Site SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:74776495C>A uc002smp.1 - 4 764 c.692_splice c.e4+1 p.R231_splice LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Splice_Site_p.R231_splice|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron|DOK1_uc002smr.2_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 cggccccTCACCTGTAGAAGG 0.567 NaN 1 0 0.004672 0.004672 0.00472745 3 9 HK2 3099 broad.mit.edu 37 2 75108948 75108948 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:75108948G>T uc002snd.2 + 11 3607 c.1681G>T c.(1681-1683)GCC>TCC p.A561S NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 561 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 CAAGATCTACGCCATCCCGCA 0.622 NaN 1 0 0.000673444 0.008291 0.00069379 11 11 DUSP2 1844 broad.mit.edu 37 2 96810513 96810513 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:96810513G>A uc002svk.3 - 2 583 c.497C>T c.(496-498)CCT>CTT p.P166L NM_004418 NP_004409 Q05923 DUS2_HUMAN dual specificity phosphatase 2 166 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity breast(1) 1 Ovarian(717;0.0228) GTCGTAGACAGGAGCCCTGGA 0.672 NaN 0 0 0 0.00308 0 6 3 ZAP70 7535 broad.mit.edu 37 2 98341692 98341692 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:98341692G>A uc002syd.1 + 4 747 c.540G>A c.(538-540)GGG>GGA p.G180G ZAP70_uc010yvf.1_Silent_p.G180G|ZAP70_uc002sye.1_Silent_p.G70G NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 180 SH2 2. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 TTTACTCTGGGGCGCAGACCG 0.647 NaN 0 0 0 0.001168 0 6 43 GCC2 9648 broad.mit.edu 37 2 109092306 109092306 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:109092306G>C uc002tec.2 + 9 3214 c.3060G>C c.(3058-3060)AAG>AAC p.K1020N GCC2_uc002ted.2_Missense_Mutation_p.K919N NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1020 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAAGCTATAAGGTAAAAAATA 0.318 NaN 0 0 0 0.009535 0 32 33 TTN 7273 broad.mit.edu 37 2 179579734 179579734 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:179579734C>T uc010zfg.1 - 87 22671 c.22447G>A c.(22447-22449)GTT>ATT p.V7483I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8410 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGAACCAACGCAAGTGTCG 0.478 NaN 0 0 0 0.01441 0 97 77 CDK15 65061 broad.mit.edu 37 2 202687611 202687611 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:202687611C>G uc002uyt.2 + 5 577 c.528C>G c.(526-528)TTC>TTG p.F176L CDK15_uc010ftm.2_Missense_Mutation_p.F41L|CDK15_uc002uys.2_Missense_Mutation_p.F125L|CDK15_uc010ftn.1_Missense_Mutation_p.F125L|CDK15_uc010fto.1_Missense_Mutation_p.F176L NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 176 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) CACTGACATTCGTTTTTGAAT 0.343 NaN 0 0 0 0.00874 0 39 70 ANKZF1 55139 broad.mit.edu 37 2 220098444 220098444 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:220098444G>C uc002vkg.2 + 8 1001 c.827G>C c.(826-828)CGT>CCT p.R276P ANKZF1_uc010zkv.1_Missense_Mutation_p.R220P|ANKZF1_uc010zkw.1_Missense_Mutation_p.R66P|ANKZF1_uc002vkh.2_Missense_Mutation_p.R66P|ANKZF1_uc002vki.2_Missense_Mutation_p.R276P|ANKZF1_uc002vkj.1_Missense_Mutation_p.R264P NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 276 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGGATGTTCGTGACCTGCTG 0.522 NaN 0 0 0 0.01441 0 44 58 GMPPA 29926 broad.mit.edu 37 2 220367155 220367155 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:220367155A>C uc002vlr.2 + 6 549 c.481A>C c.(481-483)ACA>CCA p.T161P GMPPA_uc002vls.2_Missense_Mutation_p.T161P|GMPPA_uc002vlt.2_Missense_Mutation_p.T161P|GMPPA_uc002vlu.2_Missense_Mutation_p.T161P|GMPPA_uc002vlv.2_Missense_Mutation_p.T161P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.T161P NM_013335 NP_037467 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 161 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) GAATCCACAGACACACGAGGT 0.582 NaN 0 0 0 0.010729 0 11 12 DIS3L2 129563 broad.mit.edu 37 2 233075041 233075041 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:233075041A>G uc010fxz.2 + 10 1406 c.1130A>G c.(1129-1131)GAC>GGC p.D377G DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 377 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CCTAGAAAAGACTGTATCTTC 0.428 NaN 0 0 0 0.00874 0 41 39 CHRNG 1146 broad.mit.edu 37 2 233409180 233409180 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:233409180G>T uc002vsx.1 + 10 1160 c.1139G>T c.(1138-1140)GGA>GTA p.G380V CHRNG_uc010fye.1_Missense_Mutation_p.G328V NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 380 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GGCTCCTCGGGATGGTCGATC 0.667 NaN 1 0 2.17126e-26 0.01441 2.48456e-26 50 64 USP40 55230 broad.mit.edu 37 2 234465604 234465604 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:234465604G>C uc010zmu.1 - 5 561 c.443C>G c.(442-444)TCT>TGT p.S148C USP40_uc010zmr.1_Missense_Mutation_p.S160C Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCCAACTAAAGAAGTTTCCAA 0.428 NaN 0 0 0 0.006999 0 41 34 KIF1A 547 broad.mit.edu 37 2 241661251 241661251 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:241661251G>A uc002vzy.2 - 42 4559 c.4413C>T c.(4411-4413)CAC>CAT p.H1471H KIF1A_uc010fzk.2_Silent_p.H1572H|KIF1A_uc002vzw.2_Silent_p.H132H|KIF1A_uc002vzx.2_Silent_p.H198H NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1471 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGACGCAGACGTGGCTGTGTG 0.652 NaN 0 0 0 0.001984 0 6 10 ADRA1D 146 broad.mit.edu 37 20 4228599 4228599 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr20:4228599G>A uc002wkr.2 - 1 1061 c.1006C>T c.(1006-1008)CGC>TGC p.R336C NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 336 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TTGAGCAGGCGCACGGAGAGC 0.667 NaN 0 0 0 0.000602 0 5 14 SLC23A2 9962 broad.mit.edu 37 20 4854733 4854733 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr20:4854733G>A uc002wlg.1 - 11 1326 c.951C>T c.(949-951)ATC>ATT p.I317I SLC23A2_uc010zqr.1_Silent_p.I202I|SLC23A2_uc002wlh.1_Silent_p.I317I|SLC23A2_uc002wli.2_Silent_p.I316I NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 317 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 GGATGGCCAGGATGATCTGGA 0.552 NaN 0 0 0 0.007291 0 29 102 C20orf94 128710 broad.mit.edu 37 20 10541378 10541378 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr20:10541378G>C uc010zre.1 + 4 328 c.148G>C c.(148-150)GAT>CAT p.D50H NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 50 protein binding 0 AGAAACCATTGATTCAAGAGT 0.323 NaN 0 0 0 0.013537 0 12 44 GGT7 2686 broad.mit.edu 37 20 33460480 33460480 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr20:33460480C>T uc002xay.2 - 1 182 c.139G>A c.(139-141)GAG>AAG p.E47K GGT7_uc002xaz.1_Missense_Mutation_p.E47K|GGT7_uc002xba.1_Missense_Mutation_p.E47K|ACSS2_uc002xbc.2_5'Flank NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 47 Cytoplasmic (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 AAGGCGTCCTCGTCCTTGCGG 0.697 NaN 0 0 0 0.004482 0 6 20 PREX1 57580 broad.mit.edu 37 20 47248883 47248883 + Silent SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr20:47248883C>G uc002xtw.1 - 35 4481 c.4458G>C c.(4456-4458)GCG>GCC p.A1486A PREX1_uc002xtv.1_Silent_p.A783A NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1486 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCAAATCCTCCGCGGCCTGGC 0.647 NaN 0 0 0 0.01441 0 49 131 SFRS15 57466 broad.mit.edu 37 21 33044500 33044500 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr21:33044500T>C uc002ypd.2 - 20 3082 c.2656A>G c.(2656-2658)ATG>GTG p.M886V SFRS15_uc002ype.2_Missense_Mutation_p.M864V|SFRS15_uc010glu.2_Missense_Mutation_p.M871V NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 886 nucleus nucleotide binding|RNA binding 0 CCTCTGTGCATCATGTGCGGT 0.647 NaN 0 0 0 0.010729 0 11 60 PCBP3 54039 broad.mit.edu 37 21 47330884 47330884 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr21:47330884C>T uc002zhq.1 + 7 665 c.540C>T c.(538-540)ATC>ATT p.I180I PCBP3_uc010gqb.2_Silent_p.I180I|PCBP3_uc002zhp.1_Silent_p.I180I|PCBP3_uc010gqc.1_Silent_p.I180I|PCBP3_uc002zhs.1_Silent_p.I180I|PCBP3_uc002zhr.1_Silent_p.I180I|PCBP3_uc002zht.1_Silent_p.I148I NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 180 KH 2. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CGGTGACCATCTCGGGGACCC 0.642 NaN 0 0 0 0.010504 0 19 23 C21orf58 54058 broad.mit.edu 37 21 47722421 47722421 + Missense_Mutation SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr21:47722421T>G uc002zjf.2 - 8 1925 c.791A>C c.(790-792)AAG>ACG p.K264T C21orf58_uc002ziz.2_Missense_Mutation_p.K181T|C21orf58_uc002zja.2_Missense_Mutation_p.K158T|C21orf58_uc011afw.1_Missense_Mutation_p.K181T|C21orf58_uc002zjc.2_Missense_Mutation_p.K158T|C21orf58_uc011afx.1_Missense_Mutation_p.K158T|C21orf58_uc010gqj.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 264 pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) GGGCAGGGCCTTGAGCATCCA 0.582 NaN 0 0 0 0.006214 0 9 11 COMT 1312 broad.mit.edu 37 22 19951251 19951251 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr22:19951251G>C uc002zqu.2 + 4 701 c.452G>C c.(451-453)CGG>CCG p.R151P COMT_uc002zqt.2_Missense_Mutation_p.R151P|COMT_uc002zqv.2_Missense_Mutation_p.R151P|COMT_uc002zqw.2_Missense_Mutation_p.R151P|COMT_uc011ahd.1_Missense_Mutation_p.R151P|COMT_uc002zqx.2_Missense_Mutation_p.R151P NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 151 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) ATCACCCAGCGGATGGTGGAT 0.627 NaN 0 0 0 0.00278 0 22 19 THOC5 8563 broad.mit.edu 37 22 29925227 29925227 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr22:29925227A>T uc003afr.2 - 10 1184 c.849T>A c.(847-849)GAT>GAA p.D283E THOC5_uc003afq.2_5'Flank|THOC5_uc003afs.2_Missense_Mutation_p.D283E|THOC5_uc003aft.2_Missense_Mutation_p.D283E|THOC5_uc003afu.2_Missense_Mutation_p.D283E|THOC5_uc010gvo.2_Missense_Mutation_p.N27K|THOC5_uc003afv.1_Missense_Mutation_p.D294E NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 283 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 ATAACGTCTTATCTGGGGGGC 0.532 NaN 0 0 0 0.01441 0 55 90 GALNTL2 117248 broad.mit.edu 37 3 16217067 16217067 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:16217067G>A uc003car.3 + 1 884 c.409G>A c.(409-411)GCT>ACT p.A137T GALNTL2_uc003caq.3_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 137 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 GGACTGGGGGGCTGATGAGGA 0.637 NaN 0 0 0 0.00245 0 14 55 WDR6 11180 broad.mit.edu 37 3 49051011 49051011 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:49051011T>A uc003cvj.2 + 2 2272 c.2134T>A c.(2134-2136)TAC>AAC p.Y712N WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.Y160N|WDR6_uc010hkn.2_Missense_Mutation_p.Y656N|WDR6_uc011bbz.1_Missense_Mutation_p.Y631N NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 682 WD 11. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGTCATGCTGTACAGGGCTCT 0.587 NaN OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006122 0 18 36 ZNF654 55279 broad.mit.edu 37 3 88189288 88189288 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:88189288C>G uc003dqv.2 + 1 1027 c.828C>G c.(826-828)AAC>AAG p.N276K CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 276 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTAATTGCAACGAGTCGTTTA 0.373 NaN 0 0 0 0.013114 0 46 71 TRAT1 50852 broad.mit.edu 37 3 108572572 108572572 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:108572572G>T uc003dxi.1 + 6 553 c.409G>T c.(409-411)GAT>TAT p.D137Y TRAT1_uc010hpx.1_Missense_Mutation_p.D100Y NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 137 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 CAAGGATGGAGATGAGCAACT 0.453 NaN 1 0 2.41591e-17 0.004656 2.69224e-17 28 99 TAGLN3 29114 broad.mit.edu 37 3 111718304 111718304 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:111718304G>A uc003dym.2 + 2 413 c.35G>A c.(34-36)CGA>CAA p.R12Q TAGLN3_uc003dyl.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyn.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyo.2_Missense_Mutation_p.R12Q NM_001008272 NP_001008273 Q9UI15 TAGL3_HUMAN transgelin 3 12 central nervous system development|muscle organ development 0 GGCTTAAGCCGAGAGGTGCAG 0.587 NaN 0 0 0 0.001855 0 13 61 PARP14 54625 broad.mit.edu 37 3 122399790 122399790 + Silent SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:122399790G>T uc003efq.3 + 1 119 c.60G>T c.(58-60)CCG>CCT p.P20P NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CCGACCCCCCGAAGAACTTGA 0.682 NaN 1 0 1.06961e-07 0.00308 1.13626e-07 6 15 ZXDC 79364 broad.mit.edu 37 3 126191141 126191141 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:126191141C>G uc003eiv.2 - 2 969 c.915G>C c.(913-915)GAG>GAC p.E305D ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E305D NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 305 C2H2-type 5. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TAAATGTCTTCTCACAGCCTG 0.478 NaN 0 0 0 0.005524 0 36 75 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 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) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.00499 0 11 30 COL6A6 131873 broad.mit.edu 37 3 130282263 130282263 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:130282263C>T uc010htl.2 + 2 447 c.416C>T c.(415-417)GCT>GTT p.A139V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 139 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GTGGTCCTGGCTTCATCTGAG 0.493 NaN 0 0 0 0.010818 0 33 38 GNB4 59345 broad.mit.edu 37 3 179131259 179131259 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:179131259G>C uc003fjv.3 - 8 920 c.640C>G c.(640-642)CGA>GGA p.R214G GNB4_uc003fju.3_Missense_Mutation_p.R125G NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 214 WD 4. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) ATTCCATCTCGAATATCCCAT 0.398 NaN 0 0 0 0.00632 0 27 99 ST6GAL1 6480 broad.mit.edu 37 3 186793484 186793484 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:186793484C>T uc003frb.2 + 8 1546 c.1114C>T c.(1114-1116)CTG>TTG p.L372L ST6GAL1_uc003frc.2_Silent_p.L141L|ST6GAL1_uc003frd.2_Silent_p.L372L NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 372 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CTACCACCCGCTGCTCTATGA 0.512 NaN 0 0 0 0.001168 0 6 76 UCHL1 7345 broad.mit.edu 37 4 41259007 41259007 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr4:41259007C>G uc003gvo.2 + 1 110 c.14C>G c.(13-15)CCG>CGG p.P5R UCHL1_uc003gvp.2_5'UTR|UCHL1_uc003gvq.2_5'UTR|UCHL1_uc003gvr.2_5'UTR NM_004181 NP_004172 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 5 Interaction with ubiquitin. cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|skin(1) 2 CAGCTCAAGCCGATGGAGATC 0.652 NaN 0 0 0 0.00333 0 22 45 TET2 54790 broad.mit.edu 37 4 106158065 106158065 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr4:106158065C>T uc003hxk.2 + 3 3352 c.2966C>T c.(2965-2967)CCA>CTA p.P989L TET2_uc011cez.1_Missense_Mutation_p.P1010L|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P989L|TET2_uc003hxi.1_Missense_Mutation_p.P989L NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 989 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGATGCAAGCCACATGCCTGT 0.463 NaN Mis N|F MDS 0 0 0 0.00632 0 29 25 NPY2R 4887 broad.mit.edu 37 4 156136030 156136030 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr4:156136030C>T uc003ioq.2 + 2 1434 c.939C>T c.(937-939)ATC>ATT p.I313I NPY2R_uc003ior.2_Silent_p.I313I NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 313 Helical; Name=7; (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) TCCACATCATCGCCATGTGCT 0.542 NaN 0 0 0 0.010504 0 22 38 ETFDH 2110 broad.mit.edu 37 4 159593615 159593615 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr4:159593615G>T uc003iqb.2 + 1 339 c.7G>T c.(7-9)GTG>TTG p.V3L C4orf46_uc003iqa.2_5'Flank|C4orf46_uc010iqp.1_5'Flank|ETFDH_uc010iqq.2_RNA|ETFDH_uc011cjg.1_Missense_Mutation_p.V3L|ETFDH_uc010iqr.2_5'UTR NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 3 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) GAACATGCTGGTGCCGCTAGC 0.652 NaN OREG0016379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 8.04996e-18 0.012319 9.05952e-18 19 42 SDHA 6389 broad.mit.edu 37 5 240522 240522 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:240522G>A uc003jao.3 + 11 1597 c.1482G>A c.(1480-1482)ATG>ATA p.M494I SDHA_uc011clv.1_Missense_Mutation_p.M494I|SDHA_uc011clw.1_Missense_Mutation_p.M446I|SDHA_uc003jap.3_Missense_Mutation_p.M494I|SDHA_uc003jaq.3_Missense_Mutation_p.M269I|SDHA_uc003jar.3_Missense_Mutation_p.M88I NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 494 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AATCTGTCATGAATCTTGACA 0.398 NaN Familial_Paragangliomas 0 0 0 0.004007 0 14 48 PAPD7 11044 broad.mit.edu 37 5 6750553 6750553 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:6750553C>T uc003jdx.1 + 10 1176 c.1047C>T c.(1045-1047)AGC>AGT p.S349S PAPD7_uc011cmn.1_Silent_p.S340S|PAPD7_uc010itl.1_Silent_p.S169S NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 349 Ser-rich. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 CGCTGTCCAGCCCCCAGCTCC 0.572 NaN 0 0 0 0.007413 0 20 33 CCT5 22948 broad.mit.edu 37 5 10254792 10254792 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:10254792A>T uc003jeq.2 + 3 344 c.173A>T c.(172-174)GAT>GTT p.D58V CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.D58V|CCT5_uc010its.2_Missense_Mutation_p.D58V|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.D20V|CCT5_uc011cmt.1_Intron NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 58 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 TTAGGGCTTGATAAGATGATG 0.418 NaN 0 0 0 0.012319 0 19 74 C5orf51 285636 broad.mit.edu 37 5 41917223 41917223 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:41917223A>G uc003jmo.2 + 6 707 c.707A>G c.(706-708)GAT>GGT p.D236G NM_175921 NP_787117 A6NDU8 CE051_HUMAN hypothetical protein LOC285636 236 0 CATGAAGTGGATACTAGTGTG 0.418 NaN 0 0 0 0.012213 0 33 61 MAP3K1 4214 broad.mit.edu 37 5 56181840 56181840 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:56181840G>A uc003jqw.3 + 17 4565 c.4064G>A c.(4063-4065)CGT>CAT p.R1355H NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1355 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CAGTTACTCCGTGGCCTTTCG 0.338 NaN 0 0 0 0.007291 0 25 43 MEF2C 4208 broad.mit.edu 37 5 88018629 88018629 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:88018629G>C uc003kjj.2 - 11 1887 c.1214C>G c.(1213-1215)CCT>CGT p.P405R MEF2C_uc003kji.2_Missense_Mutation_p.P397R|MEF2C_uc003kjk.2_Missense_Mutation_p.P405R|MEF2C_uc003kjm.2_Missense_Mutation_p.P395R|MEF2C_uc003kjl.2_Missense_Mutation_p.P415R NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 405 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GTATCTCGAAGGGGTGGTGGT 0.532 NaN HNSCC(66;0.2) 0 0 0 0.00245 0 14 31 SNCAIP 9627 broad.mit.edu 37 5 121786478 121786478 + Nonsense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:121786478C>T uc003ksw.1 + 10 2142 c.1936C>T c.(1936-1938)CAG>TAG p.Q646* SNCAIP_uc011cwl.1_Nonsense_Mutation_p.Q204*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.Q693*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc010jcu.2_Nonsense_Mutation_p.Q242*|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.Q278*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.Q340*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.Q586*|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Nonsense_Mutation_p.Q162* NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 646 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CCAGGATGCTCAGGCTTCCTC 0.443 NaN 0 0 0 0.006214 0 10 47 RAPGEF6 51735 broad.mit.edu 37 5 130799891 130799891 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:130799891C>T uc003kvn.1 - 18 2529 c.2323G>A c.(2323-2325)GAA>AAA p.E775K RAPGEF6_uc003kvp.1_Missense_Mutation_p.E825K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E780K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E775K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E775K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E492K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E775K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E775K NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 775 Ras-associating. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AAAACTACTTCTTTAGCTGTG 0.368 NaN 0 0 0 0.014323 0 23 30 DDX46 9879 broad.mit.edu 37 5 134143532 134143532 + Silent SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:134143532A>C uc003kzw.2 + 16 2217 c.2049A>C c.(2047-2049)CTA>CTC p.L683L DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 683 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCCGAGGTCTAGATGTGAAAC 0.438 NaN 0 0 0 0.014323 0 22 37 FAM13B 51306 broad.mit.edu 37 5 137278576 137278576 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:137278576C>G uc003lbz.2 - 21 3044 c.2510G>C c.(2509-2511)CGA>CCA p.R837P FAM13B_uc003lcb.2_Missense_Mutation_p.R713P|FAM13B_uc003lca.2_Missense_Mutation_p.R809P NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 837 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 AGAAGCTGCTCGAGAACTTGA 0.323 NaN 0 0 0 0.003271 0 35 43 PCDHA11 56138 broad.mit.edu 37 5 140249821 140249821 + Nonsense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:140249821C>G uc003lia.2 + 1 1991 c.1133C>G c.(1132-1134)TCA>TGA p.S378* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Nonsense_Mutation_p.S378* NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 378 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCGTGACTCAGGTGTCAAC 0.587 NaN 0 0 0 0.00499 0 18 72 ARHGEF37 389337 broad.mit.edu 37 5 149011634 149011634 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:149011634C>A uc003lra.1 + 13 1972 c.1908C>A c.(1906-1908)GAC>GAA p.D636E NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 636 SH3 2. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 AGGCCCAGGACAAGAAGGGGA 0.592 NaN 1 0 0.00198382 0.001984 0.00201935 7 50 SLC36A3 285641 broad.mit.edu 37 5 150660726 150660726 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:150660726C>T uc003ltw.2 - 9 1412 c.993G>A c.(991-993)AAG>AAA p.K331K GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.K316K|SLC36A3_uc003ltx.2_Silent_p.K372K NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 331 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTACATCAGCTTGACTGACT 0.517 NaN 0 0 0 0.006214 0 8 60 CYFIP2 26999 broad.mit.edu 37 5 156714072 156714072 + Silent SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:156714072G>T uc003lwq.2 + 3 300 c.162G>T c.(160-162)ACG>ACT p.T54T CYFIP2_uc011ddn.1_Silent_p.T54T|CYFIP2_uc011ddo.1_Silent_p.T54T|CYFIP2_uc003lwr.2_Silent_p.T54T|CYFIP2_uc003lws.2_Silent_p.T54T|CYFIP2_uc003lwp.2_5'UTR NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 54 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATTTGTCACGGGCATTGCAA 0.502 NaN 1 0 2.56e-06 0.009096 2.67779e-06 3 29 GABRA6 2559 broad.mit.edu 37 5 161128777 161128777 + Nonstop_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:161128777T>A uc003lyu.2 + 9 1698 c.1360T>A c.(1360-1362)TAG>AAG p.*454K GABRA6_uc003lyv.2_Nonstop_Mutation_p.*225K NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 454 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGTGTTGAATAGCTTGCGGC 0.383 NaN TCGA Ovarian(5;0.080) 0 0 0 0.003163 0 14 68 TLX3 30012 broad.mit.edu 37 5 170737358 170737358 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr5:170737358A>T uc003mbf.2 + 2 708 c.626A>T c.(625-627)CAG>CTG p.Q209L uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 209 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACGGACGCGCAGGTCAAGACC 0.642 NaN T BCL11B T-ALL 0 0 0 0.009096 0 3 15 FOXC1 2296 broad.mit.edu 37 6 1610867 1610867 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:1610867G>A uc003mtp.2 + 1 187 c.187G>A c.(187-189)GCC>ACC p.A63T NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 63 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) CATGGCCCGCGCCTACGGGCC 0.612 NaN 0 0 0 0.009096 0 4 44 TFAP2A 7020 broad.mit.edu 37 6 10400738 10400738 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:10400738C>G uc003myr.2 - 6 1220 c.968G>C c.(967-969)CGA>CCA p.R323P TFAP2A_uc003myq.2_Missense_Mutation_p.R317P|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Intron|TFAP2A_uc003myt.2_Missense_Mutation_p.R319P NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 323 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GGAATGTTGTCGGTTGAGAAA 0.488 NaN 0 0 0 0.00333 0 24 62 MICA 4276 broad.mit.edu 37 6 31378395 31378395 + Missense_Mutation SNP T T C rs17200158 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:31378395T>C uc003ntk.1 + 2 185 c.146T>C c.(145-147)GTA>GCA p.V49A MICA_uc003rxz.1_5'UTR RecName: Full=MHC class I polypeptide-related sequence A; Short=MIC-A; Flags: Precursor; 0 Ovarian(999;0.0253) CTTGCTGAGGTACATCTGGAT 0.542 NaN 0 0 0 0.000602 0 5 23 C6orf27 80737 broad.mit.edu 37 6 31733543 31733543 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:31733543C>T uc011dog.1 - 17 2742 c.2504G>A c.(2503-2505)CGG>CAG p.R835Q NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 835 extracellular region p.R835Q(1) ovary(3) 3 GGTGGTGTGCCGGTCCTGTGG 0.597 NaN 0 0 0 0.004672 0 3 34 AGPAT1 10554 broad.mit.edu 37 6 32138226 32138226 + Silent SNP G G A rs141411867 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:32138226G>A uc003oae.2 - 4 804 c.486C>T c.(484-486)GTC>GTT p.V162V PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.V126V|AGPAT1_uc003oaf.2_Silent_p.V162V|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.V162V|AGPAT1_uc003oai.1_Silent_p.V162V|AGPAT1_uc011dpl.1_Silent_p.V50V NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 162 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 GGGTCTGGGCGACCTCAGACA 0.582 NaN 0 0 0 0.00632 0 28 45 PACSIN1 29993 broad.mit.edu 37 6 34494142 34494143 + Nonsense_Mutation DNP GG GG CT TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:34494142_34494143GG>CT uc003ojo.2 + 2 266_267 c.60_61GG>CT c.(58-63)TGGGAG>TGCTAG p.20_21WE>C* PACSIN1_uc003ojp.2_Nonsense_Mutation_p.20_21WE>C* NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 20_21 FCH. endocytosis protein kinase activity 0 ACAGCTTCTGGGAGGTGAGGCT 0.629 NaN 0 0 0 0.004672 0 8 26 PHF3 23469 broad.mit.edu 37 6 64408130 64408130 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:64408130G>C uc003pep.1 + 6 2724 c.2698G>C c.(2698-2700)GAG>CAG p.E900Q PHF3_uc010kag.1_Missense_Mutation_p.E812Q|PHF3_uc010kah.1_Missense_Mutation_p.E714Q|PHF3_uc003pen.2_Missense_Mutation_p.E812Q|PHF3_uc011dxs.1_Missense_Mutation_p.E169Q NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 900 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGAGAAGCAAGAGATGAAAAA 0.333 NaN 0 0 0 0.008361 0 28 58 DOPEY1 23033 broad.mit.edu 37 6 83848597 83848597 + Silent SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:83848597T>A uc003pjs.1 + 21 5096 c.4836T>A c.(4834-4836)TCT>TCA p.S1612S DOPEY1_uc011dyy.1_Silent_p.S1603S|DOPEY1_uc010kbl.1_Silent_p.S1603S|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1612 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTGTTGTATCTGACTTAGAAC 0.413 NaN 0 0 0 0.008361 0 31 47 C6orf170 221322 broad.mit.edu 37 6 121577357 121577357 + Nonsense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr6:121577357G>C uc003pyo.1 - 16 1876 c.1808C>G c.(1807-1809)TCA>TGA p.S603* C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Nonsense_Mutation_p.S122* NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 603 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) CAACATTTCTGATCCAGAAAA 0.343 NaN 0 0 0 0.006122 0 18 32 C7orf28B 221960 broad.mit.edu 37 7 6862992 6862992 + Splice_Site SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:6862992C>A uc003sqx.1 - 5 424 c.391_splice c.e5-1 p.D131_splice C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_3'UTR NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) AAACCTTGTCCTGCAGACGCG 0.478 NaN 1 0 1.06961e-07 0.00308 1.13626e-07 5 37 BAZ1B 9031 broad.mit.edu 37 7 72883944 72883944 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:72883944G>A uc003tyc.2 - 9 3114 c.2769C>T c.(2767-2769)TTC>TTT p.F923F NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 923 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) CTTTTTCAATGAATAATCCTG 0.418 NaN 0 0 0 0.003163 0 16 56 SEMA3A 10371 broad.mit.edu 37 7 83758479 83758479 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:83758479G>T uc003uhz.2 - 3 608 c.293C>A c.(292-294)ACC>AAC p.T98N NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 98 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ATCTCTTCTGGTGTAAGATAC 0.299 NaN 1 0 1.75199e-13 0.007291 1.92099e-13 24 78 SEMA3D 223117 broad.mit.edu 37 7 84628794 84628794 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:84628794T>C uc003uic.2 - 17 2336 c.2296A>G c.(2296-2298)AGA>GGA p.R766G SEMA3D_uc010led.2_Missense_Mutation_p.R766G|SEMA3D_uc003uib.2_Missense_Mutation_p.R405G NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 766 Arg/Lys-rich (basic). cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TCCAGGTCTCTGTGATGTCTT 0.433 NaN 0 0 0 0.00333 0 25 51 SAMD9 54809 broad.mit.edu 37 7 92732105 92732105 + Silent SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:92732105A>G uc003umf.2 - 3 3562 c.3306T>C c.(3304-3306)GCT>GCC p.A1102A SAMD9_uc003umg.2_Silent_p.A1102A NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1102 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CCCAGTTTAGAGCATTGCCAA 0.373 NaN 0 0 0 0.003271 0 35 111 MLL5 55904 broad.mit.edu 37 7 104752743 104752743 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:104752743A>C uc003vcm.2 + 27 5074 c.4540A>C c.(4540-4542)ACT>CCT p.T1514P MLL5_uc010ljc.2_Missense_Mutation_p.T1514P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.T248P NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1514 Pro-rich. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 TCAGCAGGCAACTTCTGGAAC 0.473 NaN 0 0 0 0.00632 0 28 57 FLNC 2318 broad.mit.edu 37 7 128484781 128484781 + Nonsense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:128484781A>T uc003vnz.3 + 21 3471 c.3262A>T c.(3262-3264)AAG>TAG p.K1088* FLNC_uc003voa.3_Nonsense_Mutation_p.K1088* NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1088 Filamin 9. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CATCGACACCAAGGGGGCTGG 0.632 NaN 0 0 0 0.007413 0 19 54 AHCYL2 23382 broad.mit.edu 37 7 129062699 129062699 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:129062699G>A uc011kov.1 + 13 1534 c.1480G>A c.(1480-1482)GAA>AAA p.E494K AHCYL2_uc003vot.2_Missense_Mutation_p.E493K|AHCYL2_uc003vov.2_Missense_Mutation_p.E391K|AHCYL2_uc011kow.1_Missense_Mutation_p.E392K|AHCYL2_uc011kox.1_Missense_Mutation_p.E391K NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 494 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GCGGACACCAGAACTGACCTG 0.512 NaN 0 0 0 0.00499 0 15 57 ZC3HC1 51530 broad.mit.edu 37 7 129663417 129663417 + Silent SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr7:129663417G>C uc003vpi.2 - 8 1194 c.1167C>G c.(1165-1167)GGC>GGG p.G389G ZC3HC1_uc003vph.2_Silent_p.G233G|ZC3HC1_uc010lma.2_Intron NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 389 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) GTACCTCCAGGCCAGGGGTGT 0.617 NaN 0 0 0 0.00278 0 24 101 CSGALNACT1 55790 broad.mit.edu 37 8 19263328 19263328 + Missense_Mutation SNP C C G rs61910741 byFrequency TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:19263328C>G uc011kyn.1 - 10 2626 c.1562G>C c.(1561-1563)CGC>CCC p.R521P CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R521P|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R520P NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 521 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) TTTCTGTTTGCGAAGGTGAGC 0.488 NaN 0 0 0 0.000602 0 4 77 WRN 7486 broad.mit.edu 37 8 30998994 30998994 + Missense_Mutation SNP A A C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:30998994A>C uc003xio.3 + 25 3804 c.3016A>C c.(3016-3018)ACT>CCT p.T1006P WRN_uc010lvk.2_Missense_Mutation_p.T473P NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1006 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTATTTGGCACTGGCAAGGA 0.383 NaN Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 0 0 0 0.010504 0 19 42 KIAA1429 25962 broad.mit.edu 37 8 95523580 95523580 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:95523580C>T uc003ygo.1 - 13 3236 c.3223G>A c.(3223-3225)GTT>ATT p.V1075I KIAA1429_uc003ygp.2_Missense_Mutation_p.V1075I|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1075 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTTCATTAACTCCTTGTGTA 0.363 NaN 0 0 0 0.003163 0 15 25 PTDSS1 9791 broad.mit.edu 37 8 97342490 97342490 + Missense_Mutation SNP A A G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:97342490A>G uc003yht.1 + 11 1325 c.1223A>G c.(1222-1224)CAC>CGC p.H408R PTDSS1_uc003yhu.1_Missense_Mutation_p.H262R NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 408 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TATGCAGAACACTATGGTCAC 0.463 NaN 0 0 0 0.00499 0 17 37 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:102213947A>T uc003yka.2 - 3 438 c.23T>A c.(22-24)ATT>AAT p.I8N ZNF706_uc003ykb.2_Missense_Mutation_p.I8N NM_001042510 NP_001035975 Q9Y5V0 ZN706_HUMAN HSPC038 protein 8 intracellular zinc ion binding ovary(2) 2 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393 NaN 0 0 0 0.004007 0 11 30 KHDRBS3 10656 broad.mit.edu 37 8 136619260 136619260 + Missense_Mutation SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:136619260C>A uc003yuv.2 + 7 1264 c.870C>A c.(868-870)AGC>AGA p.S290R KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 290 Tyr-rich. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) ATGATAACAGCTATAGCACCC 0.403 NaN 1 0 2.28855e-06 0.004289 2.40121e-06 32 89 GPR172A 79581 broad.mit.edu 37 8 145583976 145583976 + Missense_Mutation SNP G G A rs144912258 byFrequency TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr8:145583976G>A uc003zcc.1 + 3 981 c.824G>A c.(823-825)CGC>CAC p.R275H FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R275H|GPR172A_uc003zce.1_Missense_Mutation_p.R275H|GPR172A_uc010mfy.1_Missense_Mutation_p.R275H|GPR172A_uc003zcf.1_Missense_Mutation_p.R275H|GPR172A_uc011llc.1_Missense_Mutation_p.R187H NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 275 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CTATCAGCCCGCAGTGCCTGC 0.632 NaN 0 0 0 0.010818 0 29 60 NFIB 4781 broad.mit.edu 37 9 14146709 14146709 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:14146709T>C uc003zle.2 - 6 1339 c.904A>G c.(904-906)ACA>GCA p.T302A NFIB_uc003zld.2_Missense_Mutation_p.T50A|NFIB_uc003zlf.2_Missense_Mutation_p.T302A|NFIB_uc011lmo.1_Missense_Mutation_p.T302A NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 302 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TCGTGCCATGTTCGACTTCCA 0.418 NaN T MYB|HGMA2 adenoid cystic carcinoma|lipoma 0 0 0 0.003271 0 32 76 FREM1 158326 broad.mit.edu 37 9 14819292 14819292 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:14819292C>G uc003zlm.2 - 14 3076 c.2486G>C c.(2485-2487)GGA>GCA p.G829A FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 829 CSPG 5. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TAGAGGAAATCCATTCAGCTC 0.428 NaN 0 0 0 0.006214 0 9 29 NOL6 65083 broad.mit.edu 37 9 33467712 33467712 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:33467712G>A uc003zsz.2 - 12 1680 c.1579C>T c.(1579-1581)CAC>TAC p.H527Y SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H527Y|NOL6_uc010mjv.2_Missense_Mutation_p.H524Y|NOL6_uc011lob.1_Missense_Mutation_p.H475Y|NOL6_uc003ztb.1_Missense_Mutation_p.H527Y NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 527 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTCGAGAGTGAGCCAGCAGG 0.622 NaN 0 0 0 0.010729 0 12 41 C9orf25 203259 broad.mit.edu 37 9 34401056 34401056 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:34401056T>C uc011lok.1 - 6 771 c.464A>G c.(463-465)GAC>GGC p.D155G C9orf25_uc003zuj.2_Missense_Mutation_p.D138G|C9orf25_uc003zuk.2_Missense_Mutation_p.D127G|C9orf25_uc011lol.1_Missense_Mutation_p.D143G|C9orf25_uc003zul.2_Missense_Mutation_p.D126G NM_147202 NP_671735 Q8IW50 CI025_HUMAN hypothetical protein LOC203259 155 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.0858) GTCCTCGTCGTCGGGGATCTC 0.617 NaN 0 0 0 0.001855 0 13 73 KIAA1045 23349 broad.mit.edu 37 9 34971556 34971556 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:34971556C>T uc003zvq.2 + 2 439 c.261C>T c.(259-261)GGC>GGT p.G87G KIAA1045_uc003zvr.2_Silent_p.G87G NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 87 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) ATGGGCGCGGCGTGGAGCCTG 0.617 NaN 0 0 0 0.01441 0 54 107 POLR1E 64425 broad.mit.edu 37 9 37486692 37486692 + Silent SNP T T G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:37486692T>G uc003zzz.1 + 1 543 c.255T>G c.(253-255)ACT>ACG p.T85T POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 85 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) TGGGCTGCACTCTTACAGTCC 0.453 NaN 0 0 0 0.003755 0 31 91 ANKRD20A4 728747 broad.mit.edu 37 9 69423627 69423627 + Silent SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:69423627T>C uc004afn.2 + 15 2035 c.1923T>C c.(1921-1923)TCT>TCC p.S641S uc010mnx.1_5'Flank NM_001098805 NP_001092275 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 641 Potential. 0 AAGATGTTTCTGTACAAGTAG 0.338 NaN 0 0 0 0.011902 0 34 305 ZFAND5 7763 broad.mit.edu 37 9 74970975 74970975 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:74970975C>G uc004aiv.2 - 6 814 c.536G>C c.(535-537)CGT>CCT p.R179P ZFAND5_uc010mox.1_Missense_Mutation_p.R76P|ZFAND5_uc010moy.1_Missense_Mutation_p.R179P|ZFAND5_uc004aix.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiw.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiy.2_Missense_Mutation_p.R179P NM_006007 NP_005998 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 179 AN1-type. DNA binding|zinc ion binding 0 GTCAGAGTAACGGTGAAGTCC 0.383 NaN 0 0 0 0.00333 0 23 51 PCSK5 5125 broad.mit.edu 37 9 78506171 78506171 + Missense_Mutation SNP G G T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:78506171G>T uc004ajz.2 + 1 612 c.74G>T c.(73-75)TGC>TTC p.C25F PCSK5_uc004ajy.2_Missense_Mutation_p.C25F|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 25 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 CTCGGGGGCTGCCTGCTCCCC 0.701 NaN 1 0 2.98393e-07 0.00278 3.15022e-07 24 57 GKAP1 80318 broad.mit.edu 37 9 86403527 86403527 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:86403527C>G uc004amy.2 - 5 923 c.427G>C c.(427-429)GAG>CAG p.E143Q GKAP1_uc004amz.2_Missense_Mutation_p.E143Q|GKAP1_uc011lsu.1_RNA NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 isoform a 143 Potential. signal transduction Golgi apparatus 0 TTTTTGTGCTCTTCATATTCT 0.284 NaN 0 0 0 0.009535 0 30 73 NTRK2 4915 broad.mit.edu 37 9 87338533 87338533 + Missense_Mutation SNP A A T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:87338533A>T uc004aoa.1 + 9 1567 c.629A>T c.(628-630)GAA>GTA p.E210V NTRK2_uc004anv.1_Missense_Mutation_p.E210V|NTRK2_uc004any.1_Missense_Mutation_p.E210V|NTRK2_uc004anz.1_Missense_Mutation_p.E210V|NTRK2_uc011lsz.1_Missense_Mutation_p.E210V|NTRK2_uc011lta.1_Missense_Mutation_p.E210V|NTRK2_uc004aob.1_Missense_Mutation_p.E210V|NTRK2_uc011ltb.1_Missense_Mutation_p.E54V NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 210 Extracellular (Potential).|Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 ACTGTGGAGGAAGGAAAGTCT 0.423 NaN TSP Lung(25;0.17) 0 0 0 0.00333 0 26 92 TTLL11 158135 broad.mit.edu 37 9 124751938 124751938 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:124751938G>A uc004blt.1 - 4 1263 c.1075C>T c.(1075-1077)CGC>TGC p.R359C TTLL11_uc011lyl.1_Missense_Mutation_p.R359C|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.R36C|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 359 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CCTGCCAGGCGGATGTCACTG 0.517 NaN 0 0 0 0.01441 0 50 110 OR1J2 26740 broad.mit.edu 37 9 125273238 125273238 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:125273238C>G uc004bmj.1 + 4 1013 c.158C>G c.(157-159)TCT>TGT p.S53C OR1J2_uc011lyv.1_Missense_Mutation_p.S53C NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 CAGCTGGACTCTCACCTTCAC 0.557 NaN 0 0 0 0.01441 0 64 141 RALGPS1 9649 broad.mit.edu 37 9 129957439 129957439 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:129957439G>A uc004bqo.1 + 12 1247 c.980G>A c.(979-981)GGC>GAC p.G327D RALGPS1_uc011mac.1_Missense_Mutation_p.G327D|RALGPS1_uc004bqq.3_Missense_Mutation_p.G327D NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 327 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 TCTGTTGCTGGCAGCCTCCCC 0.632 NaN 0 0 0 0.005443 0 27 83 TTF1 7270 broad.mit.edu 37 9 135275538 135275538 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:135275538C>G uc004cbl.2 - 3 1527 c.1475G>C c.(1474-1476)GGT>GCT p.G492A TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_5'UTR NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 492 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CACGGCAGAACCCAAATCCGC 0.468 NaN 0 0 0 0.008361 0 32 105 FCN1 2219 broad.mit.edu 37 9 137804955 137804955 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr9:137804955C>T uc004cfi.2 - 6 467 c.375G>A c.(373-375)GGG>GGA p.G125G NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 125 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TCAGGAAATACCCCCGGTCTA 0.677 NaN 0 0 0 0.006214 0 10 12 MXRA5 25878 broad.mit.edu 37 X 3241401 3241401 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:3241401G>C uc004crg.3 - 5 2482 c.2325C>G c.(2323-2325)AAC>AAG p.N775K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 775 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAATCTGTTTGTTTGCCATGT 0.443 NaN 0 0 0 0.01441 0 46 30 KLHL15 80311 broad.mit.edu 37 X 24024257 24024257 + Missense_Mutation SNP T T C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:24024257T>C uc004dba.3 - 3 810 c.554A>G c.(553-555)GAT>GGT p.D185G NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 185 BACK. ovary(1)|breast(1) 2 ATGATCATTATCCAAGTAAGA 0.478 NaN 0 0 0 0.001168 0 5 96 KIAA2022 340533 broad.mit.edu 37 X 73961258 73961258 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:73961258G>C uc004eby.2 - 3 3751 c.3134C>G c.(3133-3135)CCA>CGA p.P1045R NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1045 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTCCTTTAGTGGTGCTATCTC 0.502 NaN 0 0 0 0.004289 0 38 21 MAGEE1 57692 broad.mit.edu 37 X 75649899 75649899 + Missense_Mutation SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:75649899C>T uc004ecm.1 + 1 1783 c.1576C>T c.(1576-1578)CGC>TGC p.R526C NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 526 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 TAAAGAATATCGCAACCAGTT 0.478 NaN 0 0 0 0.00278 0 22 5 TMEM164 84187 broad.mit.edu 37 X 109416577 109416577 + Silent SNP C C A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:109416577C>A uc004eom.2 + 7 1111 c.792C>A c.(790-792)ACC>ACA p.T264T TMEM164_uc004eol.2_Silent_p.T115T|TMEM164_uc010npq.2_Silent_p.T225T|TMEM164_uc004eon.1_5'Flank NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 264 Helical; (Potential). integral to membrane large_intestine(1)|lung(1)|skin(1) 3 CTCTCATGACCATGACCCACG 0.532 NaN 1 0 6.68952e-21 0.013114 7.5534e-21 44 29 XIAP 331 broad.mit.edu 37 X 123040977 123040977 + Silent SNP G G A rs61757634 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:123040977G>A uc010nqu.2 + 7 1566 c.1440G>A c.(1438-1440)AAG>AAA p.K480K XIAP_uc004etx.2_Silent_p.K480K|XIAP_uc010nqv.2_Silent_p.K106K NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 480 RING-type. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 CAGTTGACAAGTGTCCCATGT 0.343 NaN X-linked_Lymphoproliferative_syndrome 0 0 0 0.00623 0 41 22 MAGEC2 51438 broad.mit.edu 37 X 141290659 141290659 + Missense_Mutation SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:141290659G>A uc004fbu.1 - 3 1463 c.1115C>T c.(1114-1116)TCT>TTT p.S372F NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 372 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) ACTTCACTCAGAAAAGGAGAC 0.512 NaN HNSCC(46;0.14) 0 0 0 0.007835 0 40 22 SLITRK4 139065 broad.mit.edu 37 X 142718330 142718330 + Silent SNP G G A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:142718330G>A uc004fbx.2 - 2 971 c.595C>T c.(595-597)CTG>TTG p.L199L SLITRK4_uc004fby.2_Silent_p.L199L NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 199 Extracellular (Potential).|LRR 6. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) ATGTGTTCCAGAACCCCGATA 0.443 NaN 0 0 0 0.01441 0 48 35 MARK2 2011 broad.mit.edu 37 11 63663087 63663089 + In_Frame_Del DEL CTC CTC - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr11:63663087_63663089delCTC uc001nxw.2 + 3 849_851 c.270_272delCTC c.(268-273)AACTCC>AAC p.S93del MARK2_uc001nxx.2_In_Frame_Del_p.S93del|MARK2_uc001nxy.2_In_Frame_Del_p.S93del|MARK2_uc001nxv.3_In_Frame_Del_p.S93del|MARK2_uc001nxz.3_In_Frame_Del_p.S60del|MARK2_uc009yoy.2_In_Frame_Del_p.S60del NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 93 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.N57K(1) stomach(1)|ovary(1)|lung(1) 3 CTCAACTGAACTCCTCCAGCCTC 0.35 NaN NaN NaN NaN NaN NaN 29 173 --- --- C12orf35 55196 broad.mit.edu 37 12 32138036 32138037 + Frame_Shift_Ins INS - - TA TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:32138036_32138037insTA uc001rks.2 + 4 4561_4562 c.4147_4148insTA c.(4147-4149)TTAfs p.L1383fs C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1383 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AGGGAACGTATTAGATATGGAA 0.347 NaN NaN NaN NaN NaN NaN 11 66 --- --- MLL2 8085 broad.mit.edu 37 12 49424468 49424475 + Frame_Shift_Del DEL GACTGGGC GACTGGGC - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 GACTGGGC - GACTGGGC GACTGGGC Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr12:49424468_49424475delGACTGGGC uc001rta.3 - 41 13748_13755 c.13748_13755delGCCCAGTC c.(13747-13755)TGCCCAGTCfs p.C4583fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4583_4585 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTGCCCATTGACTGGGCAGCCACTGCC 0.577 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 10 29 --- --- RB1 5925 broad.mit.edu 37 13 49039151 49039160 + Frame_Shift_Del DEL GATCAAAGAA GATCAAAGAA - rs3092905 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 GATCAAAGAA - GATCAAAGAA GATCAAAGAA Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr13:49039151_49039160delGATCAAAGAA uc001vcb.2 + 22 2395_2404 c.2229_2238delGATCAAAGAA c.(2227-2238)TTGATCAAAGAAfs p.L743fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 743_746 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AACGTGTTTTGATCAAAGAAGAGGAGTATG 0.286 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) NaN NaN NaN NaN NaN 7 39 --- --- FOXA1 3169 broad.mit.edu 37 14 38061854 38061862 + In_Frame_Del DEL GTTCATGGA GTTCATGGA - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 GTTCATGGA - GTTCATGGA GTTCATGGA Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr14:38061854_38061862delGTTCATGGA uc001wuf.2 - 2 439_447 c.127_135delTCCATGAAC c.(127-135)TCCATGAACdel p.SMN43del FOXA1_uc010tpz.1_In_Frame_Del_p.SMN10del NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 43_45 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TCATGTAGGTGTTCATGGAGTTCATGGAG 0.608 NaN NaN NaN NaN NaN NaN 21 89 --- --- CORO1A 11151 broad.mit.edu 37 16 30198259 30198260 + Frame_Shift_Ins INS - - T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr16:30198259_30198260insT uc002dww.2 + 4 566_567 c.444_445insT c.(442-447)CTCAGTfs p.L148fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzq.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzr.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc002dwx.2_Frame_Shift_Ins_p.L42fs|CORO1A_uc002dwy.1_5'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 148_149 WD 3. cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 ACGTGCTGCTCAGTGCAGGTGC 0.673 NaN NaN NaN NaN NaN NaN 11 42 --- --- ZNF750 79755 broad.mit.edu 37 17 80789041 80789042 + Frame_Shift_Ins INS - - A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr17:80789041_80789042insA uc002kga.2 - 2 1600_1601 c.1289_1290insT c.(1288-1290)CTGfs p.L430fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 430 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGAGGTCGTACAGGCCTTCGCA 0.624 NaN NaN NaN NaN NaN NaN 24 86 --- --- EPB41L3 23136 broad.mit.edu 37 18 5406924 5406928 + Frame_Shift_Del DEL TTGGT TTGGT - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr18:5406924_5406928delTTGGT uc002kmt.1 - 16 2283_2287 c.2197_2201delACCAA c.(2197-2202)ACCAACfs p.T733fs EPB41L3_uc010wzh.1_Frame_Shift_Del_p.T564fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.T552fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.T443fs|EPB41L3_uc002kms.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wze.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzf.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzg.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010dkr.2_Frame_Shift_Del_p.T125fs NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 733_734 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTCGCTAATGTTGGTTTGATGTTTC 0.429 NaN NaN NaN NaN NaN NaN 31 100 --- --- MTHFD2 10797 broad.mit.edu 37 2 74432891 74432897 + Frame_Shift_Del DEL GGCAGGA GGCAGGA - rs6758485 TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr2:74432891_74432897delGGCAGGA uc002skk.2 + 2 240_246 c.161_167delGGCAGGA c.(160-168)CGGCAGGAGfs p.R54fs MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Frame_Shift_Del_p.R54fs|MTHFD2_uc010yrp.1_Intron NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 54_56 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) CAGGAAGTGCGGCAGGAGGTAGAAGAG 0.498 NaN NaN NaN NaN NaN NaN 30 42 --- --- EIF4A2 1974 broad.mit.edu 37 3 186503971 186503974 + Frame_Shift_Del DEL TGTT TGTT - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chr3:186503971_186503974delTGTT uc003fqs.2 + 6 575_578 c.536_539delTGTT c.(535-540)ATGTTTfs p.M179fs EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.M180fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.M52fs|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 179_180 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) TGGATCAAAATGTTTGTTTTGGAT 0.319 NaN T BCL6 NHL NaN NaN NaN NaN NaN 40 46 --- --- TSPYL2 64061 broad.mit.edu 37 X 53111922 53111923 + Frame_Shift_Ins INS - - G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:53111922_53111923insG uc004drw.2 + 1 374_375 c.242_243insG c.(241-243)GAGfs p.E81fs TSPYL2_uc004drv.2_Frame_Shift_Ins_p.E81fs|TSPYL2_uc004drx.1_5'Flank NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 81 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 ATTCTCGAGGAGGGGGGGATCC 0.693 NaN NaN NaN NaN NaN NaN 5 4 --- --- MED12 9968 broad.mit.edu 37 X 70339253 70339258 + In_Frame_Del DEL GGTTTC GGTTTC - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:70339253_70339258delGGTTTC uc004dyy.2 + 2 329_334 c.130_135delGGTTTC c.(130-135)GGTTTCdel p.GF44del MED12_uc011mpq.1_In_Frame_Del_p.GF44del|MED12_uc004dyz.2_In_Frame_Del_p.GF44del|MED12_uc004dza.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 44_45 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGTAAAACAAGGTTTCAATAACCAGC 0.413 NaN NaN NaN NaN NaN NaN 5 3 --- --- STAG2 10735 broad.mit.edu 37 X 123179177 123179178 + Frame_Shift_Del DEL AC AC - TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 AC - AC AC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 90e57a6b-edfb-4aed-b5e0-4e607daec98a 97cfcabd-db3e-4e43-b83b-89994611ceb3 g.chrX:123179177_123179178delAC uc004etz.3 + 7 965_966 c.626_627delAC c.(625-627)GACfs p.D209fs STAG2_uc004eua.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eub.2_Frame_Shift_Del_p.D209fs|STAG2_uc004euc.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eud.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eue.2_Frame_Shift_Del_p.D209fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 209 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GGATTGTCTGACTCACAAGTCA 0.361 NaN NaN NaN NaN NaN NaN 111 65 --- ---