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 VPS13D 55187 broad.mit.edu 37 1 12460316 12460316 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:12460316G>A uc001atv.2 + 61 11854 c.11713G>A c.(11713-11715)GAG>AAG p.E3905K VPS13D_uc001atw.2_Missense_Mutation_p.E3880K|VPS13D_uc001atx.2_Missense_Mutation_p.E3092K|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3904 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGAGGTCATCGAGACCGGCCC 0.552 NaN 0 0 0 0.024245 0 14 32 CASP9 842 broad.mit.edu 37 1 15831211 15831211 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:15831211C>T uc001awn.2 - 6 858 c.763G>A c.(763-765)GGA>AGA p.G255R CASP9_uc001awm.1_Missense_Mutation_p.G255R|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G99R|CASP9_uc009voi.2_Missense_Mutation_p.G99R|CASP9_uc010obm.1_Missense_Mutation_p.G172R|CASP9_uc001awq.2_Missense_Mutation_p.G172R NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 255 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ACAGGGCATCCATCTGTGCCG 0.552 NaN 0 0 0 0.028581 0 15 63 PTPRF 5792 broad.mit.edu 37 1 44086513 44086513 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:44086513G>A uc001cjr.2 + 32 5709 c.5369G>A c.(5368-5370)GGG>GAG p.G1790E PTPRF_uc001cjs.2_Missense_Mutation_p.G1781E|PTPRF_uc001cju.2_Missense_Mutation_p.G1179E|PTPRF_uc009vwt.2_Missense_Mutation_p.G1350E|PTPRF_uc001cjv.2_Missense_Mutation_p.G1261E|PTPRF_uc001cjw.2_Missense_Mutation_p.G1016E NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1790 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCCCAGGATGGGCAGTCAAGG 0.557 NaN 0 0 0 0.013537 0 12 36 CYP4Z1 199974 broad.mit.edu 37 1 47548040 47548040 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:47548040G>A uc001cqu.1 + 4 402 c.399G>A c.(397-399)TGG>TGA p.W133* NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 133 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GTTCTAAATGGAAAAAGCACC 0.458 NaN 0 0 0 0.004482 0 7 41 LRRC7 57554 broad.mit.edu 37 1 70504189 70504189 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:70504189C>T uc001dep.2 + 19 2598 c.2568C>T c.(2566-2568)ACC>ACT p.T856T LRRC7_uc009wbg.2_Silent_p.T140T|LRRC7_uc001deq.2_Silent_p.T97T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 856 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AAGACAGGACCGCTTTTCCTT 0.463 NaN 0 0 0 0.016723 0 13 154 GBP1 2633 broad.mit.edu 37 1 89523877 89523877 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:89523877G>C uc001dmx.2 - 6 892 c.672C>G c.(670-672)CTC>CTG p.L224L NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 224 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCCGGATACAGAGTCTGGGCA 0.358 NaN 0 0 0 0.016522 0 22 395 CELSR2 1952 broad.mit.edu 37 1 109793320 109793320 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:109793320G>C uc001dxa.3 + 1 680 c.619G>C c.(619-621)GAC>CAC p.D207H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 207 Cadherin 1.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GAGGGCCATCGACCCGGACGA 0.617 NaN 0 0 0 0.014758 0 5 59 GPR89A 653519 broad.mit.edu 37 1 145771648 145771648 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:145771648C>T uc001eot.2 - 11 1166 c.992G>A c.(991-993)GGA>GAA p.G331E NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.G29E|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.G255E|GPR89A_uc010ozb.1_Missense_Mutation_p.G306E|GPR89A_uc001eos.2_Missense_Mutation_p.G211E|GPR89A_uc010ozc.1_Missense_Mutation_p.G306E|GPR89A_uc010ozd.1_Missense_Mutation_p.G278E|GPR89A_uc010oze.1_Missense_Mutation_p.G331E NM_001097612 NP_001091081 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A isoform 1 331 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) AAATTGGATTCCCAGATAATT 0.343 NaN 0 0 0 0.013537 0 9 105 RFX5 5993 broad.mit.edu 37 1 151315450 151315450 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:151315450G>T uc001exv.1 - 11 1277 c.1063C>A c.(1063-1065)CTT>ATT p.L355I RFX5_uc001exw.1_Missense_Mutation_p.L355I|RFX5_uc009wmr.1_Missense_Mutation_p.L355I|RFX5_uc010pcx.1_Missense_Mutation_p.L315I NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 355 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTGAAGAAAGCCTGGGGGCC 0.587 NaN 1 0 3.03607e-14 0.013537 3.38016e-14 13 60 FLG 2312 broad.mit.edu 37 1 152282251 152282251 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:152282251G>C uc001ezu.1 - 3 5147 c.5111C>G c.(5110-5112)TCT>TGT p.S1704C NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1704 Ser-rich.|Filaggrin 10. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGACTACAGATGAATCTTG 0.572 NaN Ichthyosis 0 0 0 0.013114 0 30 349 NTRK1 4914 broad.mit.edu 37 1 156845927 156845927 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:156845927C>T uc001fqh.1 + 13 1613 c.1557C>T c.(1555-1557)GGC>GGT p.G519G NTRK1_uc001fqf.1_Silent_p.G483G|NTRK1_uc009wsi.1_Silent_p.G218G|NTRK1_uc001fqi.1_Silent_p.G513G|NTRK1_uc009wsk.1_Silent_p.G516G NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 519 Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGGGGGAGGGCGCCTTTGGGA 0.632 NaN T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 0 0 0 0.014758 0 5 69 FCRL5 83416 broad.mit.edu 37 1 157514227 157514227 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:157514227C>T uc001fqu.2 - 5 827 c.669G>A c.(667-669)CCG>CCA p.P223P FCRL5_uc009wsm.2_Silent_p.P223P|FCRL5_uc010phv.1_Silent_p.P223P|FCRL5_uc010phw.1_Silent_p.P138P|FCRL5_uc001fqv.1_Silent_p.P223P|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 223 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGAACCGGAGCGGGACATCTG 0.567 NaN 0 0 0 0.008871 0 19 114 OR10R2 343406 broad.mit.edu 37 1 158449927 158449927 + Nonsense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:158449927C>G uc010pik.1 + 1 260 c.260C>G c.(259-261)TCA>TGA p.S87* uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 87 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GGCATTCTCTCAACATCTGAG 0.433 NaN 0 0 0 0.024334 0 27 172 RCOR3 55758 broad.mit.edu 37 1 211433478 211433478 + Nonsense_Mutation SNP C C A rs145681038 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:211433478C>A uc001hig.2 + 1 190 c.21C>A c.(19-21)TAC>TAA p.Y7* RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Nonsense_Mutation_p.Y65*|RCOR3_uc010psw.1_Nonsense_Mutation_p.Y65*|RCOR3_uc001hif.2_Nonsense_Mutation_p.Y65* NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 7 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GAGCCGAATACCAAGCTCGGA 0.353 NaN 1 0 9.39395e-14 0.00632 1.03893e-13 25 27 OR2L3 391192 broad.mit.edu 37 1 248224518 248224518 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:248224518G>A uc001idx.1 + 1 535 c.535G>A c.(535-537)GAT>AAT p.D179N OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 179 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) TTTCTTCTGTGATGTCCCAGC 0.478 NaN 0 0 0 0.008361 0 30 135 OR2T10 127069 broad.mit.edu 37 1 248756267 248756267 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:248756267G>A uc010pzn.1 - 1 803 c.803C>T c.(802-804)CCT>CTT p.P268L NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTTTCTCAGGAGTTTGGTA 0.438 NaN 0 0 0 0.008291 0 10 53 ADARB2 105 broad.mit.edu 37 10 1405298 1405298 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:1405298G>A uc009xhq.2 - 3 1376 c.1002C>T c.(1000-1002)GCC>GCT p.A334A NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 334 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCTGCAGTGCGGCCTGCGCGG 0.746 NaN 0 0 0 0.009096 0 3 9 SVIL 6840 broad.mit.edu 37 10 29821479 29821479 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:29821479T>A uc001iut.1 - 8 2570 c.1817A>T c.(1816-1818)AAC>ATC p.N606I SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.N606I NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 606 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CCTGCAGGCGTTGGCAGATGC 0.577 NaN 0 0 0 0.00308 0 8 27 ATRNL1 26033 broad.mit.edu 37 10 117228809 117228809 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:117228809C>T uc001lcg.2 + 24 4010 c.3624C>T c.(3622-3624)GTC>GTT p.V1208V ATRNL1_uc010qsm.1_Silent_p.V337V|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1208 Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATGTGTACGTCAGCAACTTTT 0.294 NaN 0 0 0 0.004482 0 9 67 LDHC 3948 broad.mit.edu 37 11 18460094 18460094 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:18460094G>C uc001mon.3 + 6 724 c.612G>C c.(610-612)GTG>GTC p.V204V LDHC_uc001mom.3_Silent_p.V204V|LDHC_uc009yhp.2_Silent_p.V204V|LDHC_uc001moo.3_Silent_p.V88V|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 204 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) GGAGTGGGGTGAATGTTGCTG 0.373 NaN 0 0 0 0.013537 0 12 74 MUC15 143662 broad.mit.edu 37 11 26587103 26587103 + Silent SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:26587103T>C uc001mqx.2 - 2 569 c.303A>G c.(301-303)AAA>AAG p.K101K ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.K128K|MUC15_uc001mqy.2_Silent_p.K128K NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 101 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TAGATGTGGGTTTTAGACTGC 0.453 NaN 0 0 0 0.008871 0 20 89 CKAP5 9793 broad.mit.edu 37 11 46786765 46786765 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:46786765C>T uc001ndi.1 - 28 3563 c.3453G>A c.(3451-3453)AAG>AAA p.K1151K CKAP5_uc009ylg.1_Silent_p.K1037K|CKAP5_uc001ndj.1_Silent_p.K1151K|CKAP5_uc001ndh.1_Silent_p.K80K|SNORD67_uc001ndk.2_5'Flank NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1151 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CTTCATCCTCCTTTAAGCTGG 0.398 NaN 0 0 0 0.024334 0 27 81 OMP 4975 broad.mit.edu 37 11 76814355 76814355 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:76814355C>T uc010rsk.1 + 1 470 c.470C>T c.(469-471)TCC>TTC p.S157F CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 157 sensory perception of smell|synaptic transmission 0 CTCAAGGCCTCCGTGGTTTTT 0.602 NaN 0 0 0 0.013537 0 11 76 NOX4 50507 broad.mit.edu 37 11 89133385 89133385 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:89133385G>A uc001pct.2 - 10 1248 c.1009C>T c.(1009-1011)CAG>TAG p.Q337* NOX4_uc009yvr.2_Nonsense_Mutation_p.Q312*|NOX4_uc001pcu.2_Nonsense_Mutation_p.Q263*|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Nonsense_Mutation_p.Q337*|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Nonsense_Mutation_p.Q171*|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Nonsense_Mutation_p.Q313*|NOX4_uc009yvq.2_Nonsense_Mutation_p.Q313* NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 337 FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGACTCACCTGACCAGGTCTT 0.373 NaN 0 0 0 0.006214 0 9 98 DSCAML1 57453 broad.mit.edu 37 11 117303215 117303215 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:117303215C>T uc001prh.1 - 30 5214 c.5212G>A c.(5212-5214)GAC>AAC p.D1738N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1678 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGGCCTTGTCATCTCCTGGG 0.463 NaN 0 0 0 0.001984 0 7 72 MFRP 83552 broad.mit.edu 37 11 119216184 119216184 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216184G>T uc001pwj.2 - 5 747 c.587C>A c.(586-588)TCT>TAT p.S196Y MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S196Y NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AAAAAGGCAAGAGGCCACACT 0.582 NaN 1 0 3.59834e-05 0.021553 3.66416e-05 4 45 MFRP 83552 broad.mit.edu 37 11 119216325 119216325 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216325G>C uc001pwj.2 - 5 606 c.446C>G c.(445-447)TCT>TGT p.S149C MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S149C NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCTTGGGCCAGAGAGGAGGCC 0.567 NaN 0 0 0 0.001984 0 7 29 MFRP 83552 broad.mit.edu 37 11 119216543 119216543 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216543G>C uc001pwj.2 - 4 527 c.367C>G c.(367-369)CAG>GAG p.Q123E MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q123E NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein 44 Collagen-like. collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCAGCTGCCTGAGAggtggtg 0.552 NaN 0 0 0 0.008291 0 10 60 VWF 7450 broad.mit.edu 37 12 6078422 6078422 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:6078422G>A uc001qnn.1 - 45 7934 c.7684C>T c.(7684-7686)CAG>TAG p.Q2562* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2562 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAGCTCAGCTGAAAGCCCGAG 0.592 NaN 0 0 0 0.001984 0 7 23 VWF 7450 broad.mit.edu 37 12 6078430 6078430 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:6078430G>A uc001qnn.1 - 45 7926 c.7676C>T c.(7675-7677)TCG>TTG p.S2559L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2559 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGAAAGCCCGAGGGGCAGAC 0.592 NaN 0 0 0 0.006214 0 9 25 STRAP 11171 broad.mit.edu 37 12 16052918 16052918 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:16052918G>A uc001rdc.3 + 8 1210 c.856G>A c.(856-858)GAT>AAT p.D286N STRAP_uc010shw.1_Missense_Mutation_p.D299N|STRAP_uc001rdd.3_Missense_Mutation_p.D192N NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 286 WD 7. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) TGGTTCAGAAGATGGAACATT 0.388 NaN 0 0 0 0.008871 0 18 82 PRICKLE1 144165 broad.mit.edu 37 12 42853914 42853914 + Nonsense_Mutation SNP G G T rs137985321 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:42853914G>T uc010skv.1 - 8 2480 c.2193C>A c.(2191-2193)TAC>TAA p.Y731* PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 731 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CGTACTGTCCGTAGAGATCAG 0.493 NaN 1 0 1.5739e-10 0.028581 1.70676e-10 17 83 MLL2 8085 broad.mit.edu 37 12 49444391 49444391 + Nonsense_Mutation SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:49444391C>A uc001rta.3 - 11 2980 c.2980G>T c.(2980-2982)GAG>TAG p.E994* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 994 Pro-rich. 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 GGGACAGGCTCAGGGTCAGTG 0.622 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 5.9392e-07 0.021553 6.19904e-07 6 35 MLL2 8085 broad.mit.edu 37 12 49445170 49445170 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:49445170C>T uc001rta.3 - 10 2296 c.2296G>A c.(2296-2298)GAG>AAG p.E766K NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 766 Pro-rich. Missing (in Ref. 1; AAC51734). 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 TGTGGCTCCTCAGCCTGCGGA 0.697 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.014758 0 5 39 ITGA7 3679 broad.mit.edu 37 12 56086673 56086673 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:56086673G>A uc001shh.2 - 21 3031 c.2811C>T c.(2809-2811)TCC>TCT p.S937S ITGA7_uc001shg.2_Silent_p.S933S|ITGA7_uc010sps.1_Silent_p.S840S|ITGA7_uc009znw.2_Silent_p.S180S|ITGA7_uc009znx.2_Silent_p.S814S NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 977 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CTGGCCACCAGGACATGCTGG 0.642 NaN 0 0 0 0.009096 0 4 24 TRHDE 29953 broad.mit.edu 37 12 73046848 73046848 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:73046848G>A uc001sxa.2 + 17 2791 c.2761G>A c.(2761-2763)GAT>AAT p.D921N NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 921 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 AGATGCAATTGATGTCATAAT 0.353 NaN 0 0 0 0.021553 0 6 59 C12orf74 338809 broad.mit.edu 37 12 93100779 93100779 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:93100779C>T uc001tch.1 + 2 602 c.372C>T c.(370-372)CCC>CCT p.P124P C12orf74_uc001tci.2_Silent_p.P124P NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 124 0 CACTGGAGCCCCAAACCCGGC 0.557 NaN 0 0 0 0.001984 0 6 79 EEA1 8411 broad.mit.edu 37 12 93244925 93244925 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:93244925C>T uc001tck.2 - 9 1025 c.760G>A c.(760-762)GAA>AAA p.E254K NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 254 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TTTTTGCATTCATCTTTGAGT 0.363 NaN 0 0 0 0.004482 0 8 48 PAN3 255967 broad.mit.edu 37 13 28794473 28794473 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:28794473C>T uc001urz.2 + 5 528 c.520C>T c.(520-522)CAC>TAC p.H174Y PAN3_uc010tdo.1_Missense_Mutation_p.H320Y|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.H120Y NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 320 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGTTTTCTCTCACCCATCCAT 0.458 NaN 0 0 0 0.017118 0 33 147 TRPC4 7223 broad.mit.edu 37 13 38213252 38213252 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:38213252G>T uc001uws.2 - 10 2371 c.2136C>A c.(2134-2136)AAC>AAA p.N712K TRPC4_uc010abv.2_Missense_Mutation_p.N292K|TRPC4_uc001uwt.2_Missense_Mutation_p.N712K|TRPC4_uc010tey.1_Missense_Mutation_p.N712K|TRPC4_uc010abw.2_Missense_Mutation_p.N539K|TRPC4_uc010abx.2_Missense_Mutation_p.N717K|TRPC4_uc010aby.2_Missense_Mutation_p.N647K NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 712 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCTTCACCAGGTTCCTCATAA 0.398 NaN 1 0 2.94398e-08 0.007413 3.1315e-08 18 174 SLITRK6 84189 broad.mit.edu 37 13 86368575 86368575 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:86368575T>C uc001vll.1 - 2 2528 c.2069A>G c.(2068-2070)TAT>TGT p.Y690C SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 690 Cytoplasmic (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGGACTTCTATAGACATGAAC 0.443 NaN 0 0 0 0.01441 0 50 255 TPP2 7174 broad.mit.edu 37 13 103326727 103326727 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:103326727G>A uc001vpi.3 + 27 3530 c.3427G>A c.(3427-3429)GGA>AGA p.G1143R NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 1143 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCTCAAGACGGAGCCATTTC 0.473 NaN 0 0 0 0.028581 0 17 62 LIG4 3981 broad.mit.edu 37 13 108860901 108860901 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:108860901C>T uc001vqn.2 - 2 2989 c.2716G>A c.(2716-2718)GAA>AAA p.E906K LIG4_uc001vqo.2_Missense_Mutation_p.E906K|LIG4_uc010agg.1_Missense_Mutation_p.E839K|LIG4_uc010agf.2_Missense_Mutation_p.E906K|LIG4_uc001vqp.2_Missense_Mutation_p.E906K NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 906 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TACTGGTTTTCTTCTTGTAAT 0.333 NaN NHEJ 0 0 0 0.010729 0 11 25 CPNE6 9362 broad.mit.edu 37 14 24546221 24546221 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr14:24546221G>A uc001wll.2 + 14 1398 c.1299G>A c.(1297-1299)ACG>ACA p.T433T CPNE6_uc010tnv.1_Silent_p.T488T|CPNE6_uc001wlm.2_Silent_p.T258T|CPNE6_uc001wln.2_Silent_p.T101T NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 433 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) GCCAAGCCACGGTAGGAAGAC 0.637 NaN 0 0 0 0.014758 0 5 12 BMP4 652 broad.mit.edu 37 14 54417548 54417548 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr14:54417548G>A uc001xal.3 - 3 616 c.429C>T c.(427-429)AAC>AAT p.N143N BMP4_uc010aoh.2_Silent_p.N143N|BMP4_uc001xao.3_Silent_p.N143N|BMP4_uc001xan.3_Silent_p.N143N NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 143 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 TGCTGCTGAGGTTAAAGAGGA 0.527 NaN 0 0 0 0.00499 0 16 43 CYFIP1 23191 broad.mit.edu 37 15 22929892 22929892 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:22929892A>G uc001yus.2 + 6 670 c.566A>G c.(565-567)AAG>AGG p.K189R CYFIP1_uc001yut.2_Missense_Mutation_p.K189R|CYFIP1_uc010aya.1_Missense_Mutation_p.K217R NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 189 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCAGCGTACAAGAGGTGAGCA 0.567 NaN 0 0 0 0.006122 0 8 26 MAP1A 4130 broad.mit.edu 37 15 43817292 43817292 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:43817292G>C uc001zrt.2 + 4 4088 c.3621G>C c.(3619-3621)GAG>GAC p.E1207D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1207 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAGCAAGGAGACCTCCCTGG 0.522 NaN 0 0 0 0.016723 0 13 84 SECISBP2L 9728 broad.mit.edu 37 15 49329879 49329879 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:49329879C>T uc001zxe.1 - 2 246 c.112G>A c.(112-114)GAT>AAT p.D38N SECISBP2L_uc001zxd.1_Missense_Mutation_p.D38N|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.D38N NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 38 breast(1)|skin(1) 2 CTTCCATTATCATTTGGGAGA 0.423 NaN 0 0 0 0.014758 0 5 32 TRPM7 54822 broad.mit.edu 37 15 50866552 50866552 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:50866552T>A uc001zyt.3 - 36 5491 c.5227A>T c.(5227-5229)ACT>TCT p.T1743S TRPM7_uc001zyr.2_Missense_Mutation_p.T180S NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1743 Cytoplasmic (Potential).|Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTTCCAGAGTATTAGTTGGA 0.358 NaN 0 0 0 0.001984 0 6 88 LARP6 55323 broad.mit.edu 37 15 71125360 71125360 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:71125360C>G uc002ass.2 - 3 578 c.507G>C c.(505-507)AGG>AGC p.R169S NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 169 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 CGGGGGTGGTCCTCCTCACCT 0.547 NaN 0 0 0 0.021553 0 6 42 CRABP1 1381 broad.mit.edu 37 15 78640302 78640302 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:78640302A>G uc002bdp.2 + 4 502 c.397A>G c.(397-399)ATT>GTT p.I133V NM_004378 NP_004369 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 133 Retinoic acid binding (By similarity). multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity 0 Alitretinoin(DB00523)|Etretinate(DB00926) CTGCACCAGAATTTATGTCCG 0.493 NaN 0 0 0 0.010729 0 10 63 CREBBP 1387 broad.mit.edu 37 16 3788618 3788618 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:3788618G>A uc002cvv.2 - 26 4540 c.4336C>T c.(4336-4338)CGC>TGC p.R1446C CREBBP_uc002cvw.2_Missense_Mutation_p.R1408C NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1446 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.R1446H(3)|p.R1446L(2)|p.R1446C(2) 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) ACGGCTGTGCGGAGGCAACGT 0.413 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.021553 0 5 21 ADCY9 115 broad.mit.edu 37 16 4016470 4016470 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:4016470G>A uc002cvx.2 - 11 3907 c.3368C>T c.(3367-3369)GCG>GTG p.A1123V NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1123 Guanylate cyclase 2.|Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CTGGGCCTGCGCGGTGTTCAG 0.602 NaN 0 0 0 0.004482 0 8 81 EMP2 2013 broad.mit.edu 37 16 10631801 10631801 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:10631801G>A uc002czx.2 - 4 494 c.300C>T c.(298-300)ATC>ATT p.I100I NM_001424 NP_001415 P54851 EMP2_HUMAN epithelial membrane protein 2 100 Helical; (Potential). cell proliferation integral to membrane 0 TTAGCTGGATGATGGAGGTTA 0.542 NaN 0 0 0 0.012319 0 22 79 ACSM5 54988 broad.mit.edu 37 16 20448621 20448621 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:20448621G>T uc002dhe.2 + 12 1615 c.1468G>T c.(1468-1470)GCC>TCC p.A490S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 490 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 AGTGGAAAGTGCCCTGGCAGA 0.567 NaN 1 0 0.00829132 0.008291 0.00834127 10 63 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:51174110G>C uc010vgs.1 - 2 2054 c.2023C>G c.(2023-2025)CCT>GCT p.P675A SALL1_uc010vgr.1_Missense_Mutation_p.P578A|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 675 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCCCAAAAGGAAACTTGGCC 0.582 NaN 0 0 0 0.010729 0 11 80 CX3CL1 6376 broad.mit.edu 37 16 57416922 57416922 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:57416922C>T uc002eli.2 + 3 1239 c.1172C>T c.(1171-1173)TCA>TTA p.S391L NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 391 Cytoplasmic (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GGTAGTAATTCATATGTCCTG 0.577 NaN 0 0 0 0.013537 0 11 84 RLTPR 146206 broad.mit.edu 37 16 67679643 67679643 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:67679643G>C uc002etn.2 + 3 269 c.149G>C c.(148-150)AGA>ACA p.R50T RLTPR_uc010cel.1_Missense_Mutation_p.R50T|RLTPR_uc010vjr.1_Missense_Mutation_p.R50T NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 50 breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTACGATGGAGAGCCTACCTG 0.667 NaN 0 0 0 0.006214 0 10 77 COG4 25839 broad.mit.edu 37 16 70516007 70516007 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:70516007C>G uc002ezc.2 - 16 2003 c.1992G>C c.(1990-1992)ATG>ATC p.M664I COG4_uc002eza.2_Missense_Mutation_p.M1I|COG4_uc002ezb.2_Missense_Mutation_p.M120I|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M643I|COG4_uc002eze.2_Missense_Mutation_p.M358I NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 660 D domain. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TGAACTCTGCCATTTGCTGCT 0.532 NaN 0 0 0 0.008291 0 10 55 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs6416709 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:71054178T>C uc002ezr.2 - 22 3357 c.3229A>G c.(3229-3231)ATA>GTA p.I1077V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1077 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418 NaN 0 0 0 0.001984 0 7 49 TP53 7157 broad.mit.edu 37 17 7576886 7576886 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7576886C>T uc002gim.2 - 9 1154 c.960G>A c.(958-960)AAG>AAA p.K320K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.K320K|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.K188K|TP53_uc010cng.1_Silent_p.K188K|TP53_uc002gii.1_Silent_p.K188K|TP53_uc010cnh.1_Silent_p.K320K|TP53_uc010cni.1_Silent_p.K320K|TP53_uc002gij.2_Silent_p.K320K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 320 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. K -> N (in sporadic cancers; somatic mutation). K->A: Loss of nuclear localization; when associated with A-319 and A-321. 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.0?(7)|p.K320N(3)|p.K320fs*26(2)|p.K320*(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K320K(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) CCAGTGGTTTCTTCTTTGGCT 0.458 111 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) 0 0 0 0.021523 0 26 41 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7577099C>G uc002gim.2 - 8 1033 c.839G>C c.(838-840)AGA>ACA p.R280T TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(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) GCGCCGGTCTCTCCCAGGACA 0.542 111 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) 0 0 0 0.013537 0 13 25 KDM6B 23135 broad.mit.edu 37 17 7751845 7751845 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7751845C>G uc002giw.1 + 11 2615 c.2239C>G c.(2239-2241)CCT>GCT p.P747A KDM6B_uc002gix.2_Missense_Mutation_p.P49A NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 747 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CACTACTGCTCCTGCTGTCGC 0.408 NaN 0 0 0 0.021553 0 6 48 CNTROB 116840 broad.mit.edu 37 17 7836462 7836462 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7836462C>T uc002gjq.2 + 2 984 c.65C>T c.(64-66)TCA>TTA p.S22L TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.S22L|CNTROB_uc002gjr.2_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 22 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) AGTGATTCATCAGAACCCCCT 0.602 NaN 0 0 0 0.024245 0 14 145 NCOR1 9611 broad.mit.edu 37 17 16089958 16089958 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:16089958C>T uc002gpo.2 - 3 392 c.152G>A c.(151-153)AGT>AAT p.S51N NCOR1_uc002gpn.2_Missense_Mutation_p.S51N|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.S51N|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.S51N|NCOR1_uc010cpa.1_Missense_Mutation_p.S51N|NCOR1_uc002gpu.2_Missense_Mutation_p.S51N NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 51 Interaction with ZBTB33 and HEXIM1. 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) TGATGCCTGACTCACTTCAAG 0.413 NaN 0 0 0 0.004482 0 9 61 ULK2 9706 broad.mit.edu 37 17 19685248 19685248 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:19685248C>G uc002gwm.3 - 23 3102 c.2593G>C c.(2593-2595)GAG>CAG p.E865Q ULK2_uc002gwn.2_Missense_Mutation_p.E865Q NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 865 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ACCACACTCTCCTGGATCTGG 0.522 NaN 0 0 0 0.013537 0 13 102 SEZ6 124925 broad.mit.edu 37 17 27308687 27308687 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:27308687C>T uc002hdp.2 - 2 620 c.426G>A c.(424-426)CCG>CCA p.P142P SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.P142P|SEZ6_uc002hdq.1_Silent_p.P17P|SEZ6_uc010crz.1_Silent_p.P142P NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 142 Pro-rich.|Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ACTCTGACTCCGGACTCCAGG 0.647 NaN 0 0 0 0.021553 0 5 36 MYO1D 4642 broad.mit.edu 37 17 30986217 30986217 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:30986217C>T uc002hho.1 - 17 2273 c.2261G>A c.(2260-2262)CGA>CAA p.R754Q MYO1D_uc002hhp.1_Missense_Mutation_p.R754Q NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 754 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CCCGTAGTCTCGCATGGTCTT 0.532 NaN OREG0024311 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00632 0 29 94 PPP1R1B 84152 broad.mit.edu 37 17 37790282 37790282 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:37790282G>C uc002hrz.2 + 5 855 c.388G>C c.(388-390)GAA>CAA p.E130Q PPP1R1B_uc002hsa.2_Missense_Mutation_p.E141Q|PPP1R1B_uc010cvx.2_Missense_Mutation_p.E97Q|PPP1R1B_uc002hsb.2_Missense_Mutation_p.E94Q|PPP1R1B_uc002hsc.2_Missense_Mutation_p.E94Q NM_032192 NP_115568 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) 130 Asp/Glu-rich (acidic). signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ggatgatgaagaagaggaaga 0.423 NaN 0 0 0 0.020292 0 13 103 KRT14 3861 broad.mit.edu 37 17 39740032 39740032 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:39740032C>T uc002hxf.1 - 4 968 c.907G>A c.(907-909)GAG>AAG p.E303K JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.E303K NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 303 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) AACCATTCCTCGGCATCCTTG 0.542 NaN 0 0 0 0.024334 0 28 249 CCR10 2826 broad.mit.edu 37 17 40831910 40831910 + Silent SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:40831910C>A uc002iax.3 - 2 754 c.750G>T c.(748-750)GTG>GTT p.V250V PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 250 Helical; Name=6; (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CCACCAGAGCCACCACGACGC 0.731 NaN 1 0 0.004672 0.004672 0.00472863 3 9 PIP5K1C 23396 broad.mit.edu 37 19 3642935 3642935 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:3642935C>T uc002lyj.1 - 14 1709 c.1652G>A c.(1651-1653)CGG>CAG p.R551Q PIP5K1C_uc010xhq.1_Missense_Mutation_p.R551Q|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R551Q NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 551 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CTGTGTGCGCCGCCTGCAGAG 0.468 NaN 0 0 0 0.010729 0 11 80 ANGPTL4 51129 broad.mit.edu 37 19 8429403 8429403 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:8429403G>C uc002mjq.1 + 1 393 c.198G>C c.(196-198)CTG>CTC p.L66L ANGPTL4_uc002mjr.1_Silent_p.L66L|ANGPTL4_uc010xkc.1_5'UTR NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 66 LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088). angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 GCAGTCAGCTGAGCGCGCTGG 0.716 NaN 0 0 0 0.004672 0 3 5 MUC16 94025 broad.mit.edu 37 19 9087678 9087678 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:9087678C>T uc002mkp.2 - 1 4341 c.4137G>A c.(4135-4137)CCG>CCA p.P1379P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1379 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 CTTTTGTGGCCGGACTGGTGA 0.458 NaN 0 0 0 0.021553 0 6 86 USHBP1 83878 broad.mit.edu 37 19 17367354 17367354 + Silent SNP G G A rs141680124 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:17367354G>A uc002nfs.1 - 9 1509 c.1396C>T c.(1396-1398)CTG>TTG p.L466L USHBP1_uc002nfr.1_Silent_p.L92L|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L402L NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 466 PDZ domain binding ovary(1) 1 TGGGTCCCCAGAATGGCCTGC 0.612 NaN 0 0 0 0.008871 0 21 85 LRFN1 57622 broad.mit.edu 37 19 39805227 39805227 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:39805227G>A uc002okw.2 - 1 750 c.750C>T c.(748-750)GGC>GGT p.G250G NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 250 Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGGGGTTGCCGCCGAAGCTGA 0.697 NaN 0 0 0 0.004672 0 3 10 PRX 57716 broad.mit.edu 37 19 40902543 40902543 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:40902543C>T uc002onr.2 - 7 1985 c.1716G>A c.(1714-1716)GTG>GTA p.V572V PRX_uc002onq.2_Silent_p.V433V|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 572 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|22. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCGGCAGCTGCACCTCTGGAA 0.552 NaN 0 0 0 0.016723 0 13 225 AXL 558 broad.mit.edu 37 19 41745178 41745178 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:41745178G>C uc010ehj.2 + 9 1434 c.1244G>C c.(1243-1245)GGA>GCA p.G415A CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.G415A|AXL_uc010ehk.2_Missense_Mutation_p.G415A NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 415 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GCTGGGGATGGACCCTGGAGC 0.617 NaN 0 0 0 0.008871 0 19 55 PSG9 5678 broad.mit.edu 37 19 43763021 43763021 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:43763021G>A uc002owd.3 - 4 1075 c.976C>T c.(976-978)CTA>TTA p.L326L PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.L233L|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 326 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) AGGACATTTAGGATGACTGGG 0.507 NaN 0 0 0 0.008291 0 11 140 STRN4 29888 broad.mit.edu 37 19 47236403 47236403 + Silent SNP G G A rs146403716 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:47236403G>A uc002pfl.2 - 5 663 c.630C>T c.(628-630)AAC>AAT p.N210N STRN4_uc002pfm.2_Silent_p.N210N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 210 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CCACTGCCCCGTTGAGCTCCA 0.662 NaN 0 0 0 0.001984 0 7 34 DHDH 27294 broad.mit.edu 37 19 49442919 49442919 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:49442919C>G uc002ple.1 + 4 620 c.580C>G c.(580-582)CCA>GCA p.P194A NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 194 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) AGGGCAGAAGCCAGAGAAGAT 0.562 NaN 0 0 0 0.004482 0 7 102 ZNF615 284370 broad.mit.edu 37 19 52497324 52497324 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:52497324C>T uc002pye.1 - 6 1297 c.1005G>A c.(1003-1005)CAG>CAA p.Q335Q ZNF615_uc002pyf.1_Silent_p.Q346Q|ZNF615_uc002pyg.1_Silent_p.Q227Q|ZNF615_uc002pyh.1_Silent_p.Q346Q|ZNF615_uc010epi.1_Silent_p.Q342Q|ZNF615_uc010ydg.1_Silent_p.Q340Q NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 335 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TATGAGTTTTCTGATGTGTAG 0.423 NaN 0 0 0 0.009535 0 33 101 SAPS1 22870 broad.mit.edu 37 19 55758399 55758399 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:55758399G>A uc002qjw.3 - 2 315 c.73C>T c.(73-75)CCC>TCC p.P25S SAPS1_uc002qjv.2_Missense_Mutation_p.P87S NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 25 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) AGCAGCTCGGGCAGGCTCAGG 0.612 NaN 0 0 0 0.001984 0 7 101 DYNC2LI1 51626 broad.mit.edu 37 2 44023913 44023913 + Missense_Mutation SNP T T G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:44023913T>G uc002rtk.2 + 8 729 c.633T>G c.(631-633)CAT>CAG p.H211Q DYNC2LI1_uc002rtj.2_Missense_Mutation_p.H211Q|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.H212Q|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.H85Q NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 211 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTGTTGCACATTATTATGGAG 0.353 NaN 0 0 0 0.00499 0 15 59 SMYD5 10322 broad.mit.edu 37 2 73446021 73446021 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:73446021G>A uc002siw.2 + 2 158 c.129G>A c.(127-129)CGG>CGA p.R43R SMYD5_uc010yre.1_5'UTR NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 43 metal ion binding 0 AGCTCATCCGGAAGGGGGAGA 0.542 NaN 0 0 0 0.008291 0 10 42 ST6GAL2 84620 broad.mit.edu 37 2 107446656 107446656 + Missense_Mutation SNP A A C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:107446656A>C uc002tdq.2 - 5 1303 c.1184T>G c.(1183-1185)ATT>AGT p.I395S ST6GAL2_uc002tdr.2_Missense_Mutation_p.I395S|ST6GAL2_uc002tds.3_Missense_Mutation_p.I395S NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 395 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 ACGATGCTGAATATATGGAGT 0.368 NaN 0 0 0 0.008871 0 20 86 RANBP2 5903 broad.mit.edu 37 2 109400167 109400167 + Missense_Mutation SNP A A G rs141352150 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:109400167A>G uc002tem.3 + 29 9611 c.9485A>G c.(9484-9486)AAT>AGT p.N3162S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 3162 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TCCATGGCCAATCAAGGCCAG 0.368 NaN 0 0 0 0.010729 0 10 88 PSD4 23550 broad.mit.edu 37 2 113940254 113940254 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:113940254A>G uc002tjc.2 + 2 404 c.221A>G c.(220-222)CAC>CGC p.H74R PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.H73R|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 74 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GAGCTCACACACCTGGGGAGC 0.617 NaN 0 0 0 0.014758 0 5 41 XIRP2 129446 broad.mit.edu 37 2 168101824 168101824 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:168101824G>A uc002udx.2 + 8 3940 c.3922G>A c.(3922-3924)GAT>AAT p.D1308N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1133N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1086N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1133 Xin 22. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATACAGGGTGATGTAAAAAG 0.368 NaN 0 0 0 0.016723 0 14 73 TTN 7273 broad.mit.edu 37 2 179542881 179542881 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:179542881G>A uc010zfg.1 - 142 30457 c.30233C>T c.(30232-30234)CCG>CTG p.P10078L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6739L|TTN_uc010fre.1_Missense_Mutation_p.P735L|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11005 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) CACTTTTTTCGGAACAGGTGT 0.358 NaN 0 0 0 0.004482 0 7 79 CYP20A1 57404 broad.mit.edu 37 2 204144831 204144831 + Missense_Mutation SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:204144831C>A uc002uzv.3 + 8 1467 c.845C>A c.(844-846)GCA>GAA p.A282E CYP20A1_uc002uzx.3_Missense_Mutation_p.A180E|CYP20A1_uc010zif.1_Missense_Mutation_p.A290E|CYP20A1_uc002uzy.3_Missense_Mutation_p.A180E|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.A12E NM_177538 NP_803882 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, 282 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 ATAATAACTGCAAAATGTAAG 0.219 NaN 1 0 5.68852e-11 0.004482 6.24989e-11 8 20 VIL1 7429 broad.mit.edu 37 2 219292748 219292748 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:219292748C>T uc002via.2 + 5 473 c.408C>T c.(406-408)GTC>GTT p.V136V VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V136V|VIL1_uc002vic.1_Silent_p.V136V NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 136 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTATGACGTCCAGAGGCTGC 0.622 NaN 0 0 0 0.014323 0 19 146 PAX3 5077 broad.mit.edu 37 2 223096999 223096999 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:223096999G>A uc010fwo.2 - 5 956 c.590C>T c.(589-591)TCA>TTA p.S197L PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 197 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGGGTGCTGAGGCTAAAAG 0.328 NaN T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 0 0 0 0.006214 0 10 92 KIAA1486 57624 broad.mit.edu 37 2 226447640 226447640 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:226447640C>T uc002voe.2 + 4 1682 c.1507C>T c.(1507-1509)CGG>TGG p.R503W KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R273W NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 503 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GGGTGGCTCCCGGTCCCGGAC 0.687 NaN 0 0 0 0.001984 0 6 24 COL6A3 1293 broad.mit.edu 37 2 238296565 238296565 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:238296565G>A uc002vwl.2 - 4 1257 c.972C>T c.(970-972)CTC>CTT p.L324L COL6A3_uc002vwo.2_Silent_p.L118L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.L118L|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L324L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 324 VWFA 2.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AATCAAGGGCGAGGCCGATAT 0.617 NaN 0 0 0 0.001984 0 7 41 ASXL1 171023 broad.mit.edu 37 20 31021672 31021672 + Silent SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr20:31021672C>G uc002wxs.2 + 11 2097 c.1671C>G c.(1669-1671)ACC>ACG p.T557T ASXL1_uc010geb.2_Silent_p.T448T NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 557 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTGTTCACACCGAAAAGCCAC 0.537 NaN F|N|Mis MDS|CMML 0 0 0 0.01892 0 24 128 ARFGEF2 10564 broad.mit.edu 37 20 47639592 47639592 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr20:47639592G>T uc002xtx.3 + 35 4781 c.4629G>T c.(4627-4629)CAG>CAT p.Q1543H ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q836H NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1543 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACATAGATCAGAAACTGTTTG 0.318 NaN 1 0 3.07112e-06 0.010729 3.1659e-06 9 120 DGCR8 54487 broad.mit.edu 37 22 20073753 20073753 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:20073753G>A uc002zri.2 + 2 617 c.267G>A c.(265-267)CCG>CCA p.P89P DGCR8_uc010grz.2_Silent_p.P89P|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 89 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) TCATAGACCCGAACTGTAGTG 0.567 NaN 0 0 0 0.008291 0 9 66 THOC5 8563 broad.mit.edu 37 22 29917075 29917075 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:29917075G>C uc003afr.2 - 14 1524 c.1189C>G c.(1189-1191)CCT>GCT p.P397A THOC5_uc003afq.2_Missense_Mutation_p.P58A|THOC5_uc003afs.2_Missense_Mutation_p.P397A|THOC5_uc003aft.2_Missense_Mutation_p.P397A|THOC5_uc003afu.2_Missense_Mutation_p.P397A|THOC5_uc010gvo.2_Missense_Mutation_p.P141A NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 397 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 ACTGAGTCAGGAGACAGCAAG 0.453 NaN 0 0 0 0.016522 0 23 114 DEPDC5 9681 broad.mit.edu 37 22 32242867 32242867 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:32242867G>A uc003als.2 + 31 3184 c.3042G>A c.(3040-3042)ACG>ACA p.T1014T DEPDC5_uc011als.1_Silent_p.T945T|DEPDC5_uc011alu.1_Silent_p.T1023T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.T1014T|DEPDC5_uc003alu.2_Silent_p.T463T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.T344T|DEPDC5_uc003alw.2_Silent_p.T312T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Silent_p.T18T NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1014 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CCATTTCCACGCATTCTCTGG 0.552 NaN 0 0 0 0.028581 0 16 53 WBP2NL 164684 broad.mit.edu 37 22 42415340 42415340 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:42415340G>A uc011ape.1 + 3 104 c.88G>A c.(88-90)GAG>AAG p.E30K WBP2NL_uc003bbt.2_Missense_Mutation_p.E30K|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_5'Flank NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 30 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 TCCGAATGTGGAGCTCTCCTT 0.413 NaN 0 0 0 0.00308 0 6 75 RARB 5915 broad.mit.edu 37 3 25542729 25542729 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25542729G>C uc011awl.1 + 3 450 c.384G>C c.(382-384)AAG>AAC p.K128N RARB_uc003cdi.1_Missense_Mutation_p.K9N|RARB_uc003cdh.2_Missense_Mutation_p.K121N NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 128 Nuclear receptor.|NR C4-type. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) ACCGAGATAAGAACTGTGTTA 0.393 NaN 0 0 0 0.006214 0 8 90 OXSM 54995 broad.mit.edu 37 3 25835785 25835785 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25835785G>A uc003cdn.2 + 3 1287 c.1180G>A c.(1180-1182)GAG>AAG p.E394K OXSM_uc011awp.1_Missense_Mutation_p.E119K|OXSM_uc010hfh.2_Missense_Mutation_p.E311K NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 394 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 AGGGGCAGTCGAGGCAGCTTT 0.438 NaN 0 0 0 0.024245 0 16 88 SLC6A20 54716 broad.mit.edu 37 3 45800507 45800507 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:45800507C>T uc011bai.1 - 11 1866 c.1742G>A c.(1741-1743)CGT>CAT p.R581H SLC6A20_uc003cow.2_Missense_Mutation_p.R231H|SLC6A20_uc011baj.1_Missense_Mutation_p.R544H NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 581 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CTTGAGGCGACGCTGAACAAA 0.602 NaN 0 0 0 0.013537 0 13 43 MAP4 4134 broad.mit.edu 37 3 47908773 47908773 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:47908773G>A uc003csb.2 - 15 3555 c.3029C>T c.(3028-3030)TCC>TTC p.S1010F MAP4_uc003csc.3_Missense_Mutation_p.S1010F|MAP4_uc003crw.2_Missense_Mutation_p.S89F|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Missense_Mutation_p.S723F|MAP4_uc003cry.2_Missense_Mutation_p.S745F|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.S730F NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 1010 Tau/MAP 2. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ATTGTCCTTGGAACCACACTT 0.438 NaN 0 0 0 0.016723 0 13 92 CELSR3 1951 broad.mit.edu 37 3 48694483 48694483 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:48694483G>A uc003cul.2 - 2 4328 c.4047C>T c.(4045-4047)TCC>TCT p.S1349S CELSR3_uc003cuf.1_Silent_p.S1419S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1349 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCAGCTCCTCGGAGCTGAACC 0.682 NaN 0 0 0 0.014758 0 5 40 QARS 5859 broad.mit.edu 37 3 49136834 49136834 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:49136834G>A uc003cvx.2 - 17 1562 c.1557C>T c.(1555-1557)CTC>CTT p.L519L QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.L374L|QARS_uc003cvy.2_Silent_p.L374L|QARS_uc011bce.1_Silent_p.L508L NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 519 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GCAGGGCCGTGAGTGTAAAGA 0.557 NaN 0 0 0 0.006214 0 10 70 GPX1 2876 broad.mit.edu 37 3 49394857 49394857 + Silent SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:49394857G>T uc011bcl.1 - 3 656 c.576C>A c.(574-576)ATC>ATA p.I192I GPX1_uc011bcm.1_3'UTR NM_000581 NP_000572 P07203 GPX1_HUMAN glutathione peroxidase 1 isoform 1 192 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) GCAGGGCTTCGATGTCAGGCT 0.617 NaN 1 0 2.7689e-08 0.001984 2.96414e-08 7 45 FAM116A 201627 broad.mit.edu 37 3 57658153 57658153 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:57658153G>A uc003dja.2 - 2 321 c.250C>T c.(250-252)CAG>TAG p.Q84* NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 84 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) TTGGAATGCTGAGGATAAATT 0.204 NaN 0 0 0 0.004482 0 7 57 MRPL3 11222 broad.mit.edu 37 3 131190094 131190094 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:131190094T>C uc003eoh.2 - 7 823 c.659A>G c.(658-660)AAA>AGA p.K220R MRPL3_uc011blo.1_Missense_Mutation_p.K115R|MRPL3_uc011blp.1_Missense_Mutation_p.K247R NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 220 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 TCCCCATCTTTTCATGACACC 0.408 NaN 0 0 0 0.004482 0 9 83 DGKG 1608 broad.mit.edu 37 3 186006620 186006620 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:186006620C>T uc003fqa.2 - 6 960 c.423G>A c.(421-423)GCG>GCA p.A141A DGKG_uc003fqb.2_Silent_p.A141A|DGKG_uc003fqc.2_Silent_p.A141A|DGKG_uc011brx.1_Silent_p.A141A NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 141 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCAGGGGGGTCGCAGCCACTT 0.512 NaN 0 0 0 0.01441 0 47 180 INPP4B 8821 broad.mit.edu 37 4 143044482 143044482 + Silent SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr4:143044482C>A uc003iix.3 - 21 2575 c.1980G>T c.(1978-1980)GGG>GGT p.G660G INPP4B_uc003iiw.3_Silent_p.G660G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G475G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G531G NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 660 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GTACTATCAACCCCACTGTGT 0.363 NaN 1 0 3.09899e-07 0.004482 3.25491e-07 8 85 DAB2 1601 broad.mit.edu 37 5 39377092 39377092 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:39377092A>G uc003jlx.2 - 12 2328 c.1797T>C c.(1795-1797)TTT>TTC p.F599F DAB2_uc003jlw.2_Silent_p.F578F NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 599 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) CAGGAGCTGGAAAAATATTGC 0.572 NaN OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 11 151 SLC27A6 28965 broad.mit.edu 37 5 128368806 128368806 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:128368806T>A uc003kuy.2 + 11 2087 c.1691T>A c.(1690-1692)ATG>AAG p.M564K SLC27A6_uc003kuz.2_Missense_Mutation_p.M564K NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 564 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CAGGAAAAAATGGAAGCAACA 0.289 NaN 0 0 0 0.021553 0 6 22 PCDHA8 56140 broad.mit.edu 37 5 140222221 140222221 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:140222221G>A uc003lhs.2 + 1 1315 c.1315G>A c.(1315-1317)GCC>ACC p.A439T 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_uc003lhr.1_Missense_Mutation_p.A439T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 439 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGCCACCGCCAGCTTGTC 0.667 NaN 0 0 0 0.028581 0 17 108 PCDHA8 56140 broad.mit.edu 37 5 140222946 140222946 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:140222946G>A uc003lhs.2 + 1 2040 c.2040G>A c.(2038-2040)TCG>TCA p.S680S 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_uc003lhr.1_Silent_p.S680S NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 680 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCGTCATCGAGGCAGTCGG 0.627 NaN 0 0 0 0.010729 0 12 99 NSD1 64324 broad.mit.edu 37 5 176665484 176665484 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:176665484G>C uc003mfr.3 + 7 4306 c.4168G>C c.(4168-4170)GAG>CAG p.E1390Q NSD1_uc003mft.3_Missense_Mutation_p.E1121Q|NSD1_uc003mfs.1_Missense_Mutation_p.E1287Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1038Q NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1390 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTTGAGTCTGAGGAATTGCT 0.507 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.01892 0 23 71 RNF182 221687 broad.mit.edu 37 6 13977507 13977507 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:13977507G>C uc003nbe.2 + 3 575 c.157G>C c.(157-159)GAC>CAC p.D53H RNF182_uc003nbf.2_Missense_Mutation_p.D53H|RNF182_uc003nbg.2_Missense_Mutation_p.D53H NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 53 RING-type. cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) CAAGATCATAGACTTTGGGGA 0.463 NaN 0 0 0 0.008291 0 11 164 ZNF311 282890 broad.mit.edu 37 6 28967310 28967310 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:28967310G>A uc003nlu.2 - 5 777 c.264C>T c.(262-264)CTC>CTT p.L88L ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 CATCCTTATAGAGATGCCTTT 0.398 NaN 0 0 0 0.00308 0 7 88 ELOVL5 60481 broad.mit.edu 37 6 53160459 53160459 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:53160459C>G uc003pbq.1 - 2 487 c.39G>C c.(37-39)AAG>AAC p.K13N ELOVL5_uc003pbr.1_Missense_Mutation_p.K13N|ELOVL5_uc011dwx.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbs.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbu.2_Missense_Mutation_p.K13N|ELOVL5_uc011dwy.1_RNA NM_021814 NP_068586 Q9NYP7 ELOV5_HUMAN elongation of very long chain fatty acids-like 13 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(77;0.116) CTAGCAATGCCTTGAAATAGG 0.363 NaN 0 0 0 0.004672 0 3 11 UBE2J1 51465 broad.mit.edu 37 6 90053459 90053459 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:90053459C>T uc010kcb.2 - 3 221 c.48G>A c.(46-48)ATG>ATA p.M16I UBE2J1_uc003pnc.2_Missense_Mutation_p.M16I NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 16 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CCGCTTCTTTCATTAAACGTT 0.299 NaN 0 0 0 0.009096 0 4 32 AKD1 221264 broad.mit.edu 37 6 109867162 109867162 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:109867162C>G uc003ptn.2 - 26 3210 c.3133G>C c.(3133-3135)GAT>CAT p.D1045H AKD1_uc011eat.1_Missense_Mutation_p.D124H NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1045 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TTCTCAGAATCTTCCTCAAAT 0.358 NaN 0 0 0 0.00308 0 8 88 PTPRK 5796 broad.mit.edu 37 6 128302401 128302401 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:128302401C>T uc003qbk.2 - 25 3935 c.3568G>A c.(3568-3570)GAA>AAA p.E1190K PTPRK_uc003qbj.2_Missense_Mutation_p.E1191K|PTPRK_uc010kfc.2_Missense_Mutation_p.E1197K|PTPRK_uc011ebu.1_Missense_Mutation_p.E1213K NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1190 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CTGCAGTCTTCAGCTTGTAGT 0.428 NaN 0 0 0 0.001984 0 5 25 LAMA2 3908 broad.mit.edu 37 6 129475825 129475825 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:129475825A>G uc003qbn.2 + 8 1308 c.1203A>G c.(1201-1203)AAA>AAG p.K401K LAMA2_uc003qbo.2_Silent_p.K401K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 401 Laminin EGF-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAGACCCAAAGGGGTAAAGT 0.333 NaN 0 0 0 0.014758 0 5 50 HBS1L 10767 broad.mit.edu 37 6 135287557 135287557 + Missense_Mutation SNP T T C rs1139174 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:135287557T>C uc003qez.2 - 17 2160 c.1953A>G c.(1951-1953)ATA>ATG p.I651M HBS1L_uc003qey.2_Missense_Mutation_p.I487M|HBS1L_uc011ecy.1_Missense_Mutation_p.I375M|HBS1L_uc011ecz.1_Missense_Mutation_p.I487M|HBS1L_uc011eda.1_Missense_Mutation_p.I609M NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 651 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GCTCAAGAGCTATTGGTCTTT 0.368 NaN 0 0 0 0.007291 0 27 85 TRIL 9865 broad.mit.edu 37 7 28996417 28996417 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:28996417C>T uc003szt.2 - 3 1613 c.1246G>A c.(1246-1248)GAT>AAT p.D416N uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 416 Extracellular (Potential).|LRRCT. inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 GGCGAGGGATCCGCGCAGGAT 0.662 NaN 0 0 0 0.024245 0 15 42 MAGI2 9863 broad.mit.edu 37 7 79082591 79082591 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:79082591G>A uc003ugx.2 - 1 300 c.46C>T c.(46-48)CAT>TAT p.H16Y MAGI2_uc003ugy.2_Missense_Mutation_p.H16Y|uc010lea.1_5'Flank NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 16 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACACTCTCATGGACTTTGCTA 0.592 NaN 0 0 0 0.024334 0 24 124 AKAP9 10142 broad.mit.edu 37 7 91625086 91625086 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:91625086T>C uc003ulg.2 + 7 1127 c.902T>C c.(901-903)TTG>TCG p.L301S AKAP9_uc003uld.3_Missense_Mutation_p.L301S|AKAP9_uc003ule.2_Missense_Mutation_p.L313S|AKAP9_uc003ulf.2_Missense_Mutation_p.L301S NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 313 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTAGTTTCTTGCAAGAGAAA 0.318 NaN T BRAF papillary thyroid 0 0 0 0.00308 0 8 27 ASB4 51666 broad.mit.edu 37 7 95125268 95125268 + Missense_Mutation SNP G G A rs141186023 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:95125268G>A uc011kij.1 + 2 386 c.386G>A c.(385-387)CGT>CAT p.R129H ASB4_uc003unx.2_Missense_Mutation_p.R129H NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 129 ANK 2. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CTCTGTGATCGTGGGGCAAAG 0.458 NaN 0 0 0 0.016723 0 14 64 BCAP29 55973 broad.mit.edu 37 7 107253835 107253835 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:107253835G>A uc003vej.2 + 7 987 c.648G>A c.(646-648)TCG>TCA p.S216S BCAP29_uc011kly.1_Silent_p.S122S|BCAP29_uc011klz.1_Silent_p.S216S|BCAP29_uc011kma.1_Silent_p.S216S NM_018844 NP_061332 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein BAP29 isoform 216 Cytoplasmic (Potential). apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane large_intestine(1)|ovary(1) 2 AGAGACTTTCGAAAGAATATG 0.323 NaN 0 0 0 0.010729 0 10 38 NCOA2 10499 broad.mit.edu 37 8 71126156 71126156 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr8:71126156G>A uc003xyn.1 - 4 403 c.241C>T c.(241-243)CGT>TGT p.R81C NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 81 Basic motif. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTGATCTGACGAATTTGCTTC 0.343 NaN T RUNXBP2 AML 0 0 0 0.006214 0 10 21 RPS6 6194 broad.mit.edu 37 9 19376294 19376294 + Silent SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:19376294T>C uc003znv.1 - 6 789 c.747A>G c.(745-747)AAA>AAG p.K249K RPS6_uc003znu.1_Silent_p.K218K NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 249 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) AAAAATCTTATTTCTGACTGG 0.383 NaN 0 0 0 0.004482 0 8 76 PGM5 5239 broad.mit.edu 37 9 71098912 71098912 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:71098912C>T uc004agr.2 + 9 1656 c.1427C>T c.(1426-1428)ACG>ATG p.T476M NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 476 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 GTGGCGAAGACGGATAGTTTT 0.502 NaN 0 0 0 0.00499 0 17 68 SUSD3 203328 broad.mit.edu 37 9 95841805 95841805 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:95841805G>A uc004atb.2 + 4 514 c.478G>A c.(478-480)GCC>ACC p.A160T SUSD3_uc004atc.2_Missense_Mutation_p.A147T NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 160 Cytoplasmic (Potential). integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 GACGGTGCAGGCCGCATACCT 0.612 NaN 0 0 0 0.016723 0 13 32 SMC2 10592 broad.mit.edu 37 9 106900437 106900437 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:106900437A>G uc004bbv.2 + 24 3696 c.3408A>G c.(3406-3408)ACA>ACG p.T1136T SMC2_uc004bbw.2_Silent_p.T1136T|SMC2_uc011lvl.1_Silent_p.T1136T|SMC2_uc004bbx.2_Silent_p.T1136T|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1136 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 CTCATTTCACACATTCTCAGG 0.343 NaN 0 0 0 0.016522 0 22 39 SNAPC4 6621 broad.mit.edu 37 9 139273423 139273423 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139273423G>A uc004chh.2 - 21 2865 c.2856C>T c.(2854-2856)CTC>CTT p.L952L NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 952 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CAGGCCCAGAGAGCGGTACAT 0.657 NaN 0 0 0 0.014758 0 5 6 MAMDC4 158056 broad.mit.edu 37 9 139752992 139752992 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139752992G>A uc004cjs.2 + 22 2865 c.2815G>A c.(2815-2817)GAG>AAG p.E939K MAMDC4_uc011mej.1_Missense_Mutation_p.E276K NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 1018 Extracellular (Potential).|MAM 6. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCTGGGCACAGAGGCAGGTAC 0.706 NaN 0 0 0 0.004672 0 3 12 MAMDC4 158056 broad.mit.edu 37 9 139754441 139754441 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139754441G>C uc004cjs.2 + 26 3347 c.3297G>C c.(3295-3297)CAG>CAC p.Q1099H MAMDC4_uc011mej.1_Missense_Mutation_p.Q436H NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 1178 Cytoplasmic (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GCTGGCTGCAGAAGAAGGGGA 0.632 NaN 0 0 0 0.014758 0 5 14 ATP7A 538 broad.mit.edu 37 X 77275742 77275742 + Silent SNP G G C rs150976855 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:77275742G>C uc004ecx.3 + 13 2788 c.2628G>C c.(2626-2628)GGG>GGC p.G876G NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 876 Cytoplasmic (Potential). G -> R (in MNKD).|G -> E (in MNKD). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TCCATACAGGGGAGGCAATGC 0.393 NaN 0 0 0 0.013537 0 10 46 DIAPH2 1730 broad.mit.edu 37 X 96213049 96213049 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:96213049C>T uc004efu.3 + 16 2233 c.1837C>T c.(1837-1839)CCT>TCT p.P613S DIAPH2_uc004eft.3_Missense_Mutation_p.P613S NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 613 Poly-Pro.|FH1. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 TGGAGGAGTTCCTCCTCCCCC 0.478 NaN 0 0 0 0.024245 0 16 25 ARID1A 8289 broad.mit.edu 37 1 27101322 27101326 + Frame_Shift_Del DEL CAGAT CAGAT - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 CAGAT - CAGAT CAGAT Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:27101322_27101326delCAGAT uc001bmv.1 + 18 4977_4981 c.4604_4608delCAGAT c.(4603-4608)ACAGATfs p.T1535fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1534fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T1152fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T381fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1535_1536 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) ATGCTGCACACAGATCAGAGGGCCA 0.605 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 13 76 --- --- ZZZ3 26009 broad.mit.edu 37 1 78098224 78098224 + Frame_Shift_Del DEL T T - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:78098224delT uc001dhq.2 - 5 1292 c.816delA c.(814-816)CAAfs p.Q272fs ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Frame_Shift_Del_p.Q272fs|ZZZ3_uc001dhp.2_Frame_Shift_Del_p.Q272fs NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TGACCTGCACTTGTGAATCTG 0.458 NaN NaN NaN NaN NaN NaN 37 246 --- --- TACC2 10579 broad.mit.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:123844356delC uc001lfv.2 + 4 2701 c.2341delC c.(2341-2343)CCCfs p.P781fs TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.P781fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.P781fs NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 781 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGTGCCACATCCCCCCCAGGG 0.642 NaN NaN NaN NaN NaN NaN 10 93 --- --- DNAH3 55567 broad.mit.edu 37 16 20952843 20952844 + Frame_Shift_Ins INS - - G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:20952843_20952844insG uc010vbe.1 - 59 11533_11534 c.11533_11534insC c.(11533-11535)CAAfs p.Q3845fs DNAH3_uc010vbd.1_Frame_Shift_Ins_p.Q1280fs NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3845 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GAGAATGTCTTGTGCCAACTCC 0.475 NaN NaN NaN NaN NaN NaN 36 124 --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:17898126delT uc002rco.2 - 14 1524 c.1228delA c.(1228-1230)ATAfs p.I410fs SMC6_uc010exo.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.I436fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.I436fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.I410fs NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 410 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 NaN NaN NaN NaN NaN NaN 7 116 --- --- SDC1 6382 broad.mit.edu 37 2 20405159 20405160 + Frame_Shift_Ins INS - - G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:20405159_20405160insG uc002rdo.1 - 2 391_392 c.92_93insC c.(91-93)CCTfs p.P31fs SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 31 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTTGATCTTCAGGGGGCAAATT 0.55 NaN NaN NaN NaN NaN NaN 7 106 --- --- RARB 5915 broad.mit.edu 37 3 25216052 25216053 + Frame_Shift_Del DEL CC CC - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25216052_25216053delCC uc011awl.1 + 1 230_231 c.164_165delCC c.(163-165)ACCfs p.T55fs NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 55 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) GGATGCAGCACCCCGTCGCCGG 0.559 NaN NaN NaN NaN NaN NaN 13 42 --- --- ALS2CL 259173 broad.mit.edu 37 3 46714826 46714827 + Splice_Site DEL CA CA - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:46714826_46714827delCA uc003cqa.1 - 22 2662 c.2472_splice c.e22+1 p.Q824_splice ALS2CL_uc003cpx.1_Splice_Site_p.Q171_splice|ALS2CL_uc003cpy.1_Splice_Site|ALS2CL_uc003cpz.1_Splice_Site_p.Q339_splice|ALS2CL_uc003cqb.1_Splice_Site_p.Q824_splice|ALS2CL_uc003cqc.1_Splice_Site NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCCTCCCTCTCACCTGATTGCT 0.609 NaN NaN NaN NaN NaN NaN 2 4 --- ---