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 KIAA0562 9731 broad.mit.edu 37 1 3732029 3732029 + Missense_Mutation SNP G C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:3732029G>C uc001aky.2 - 22 3074 c.2715C>G c.(2713-2715)AGC>AGG p.S905R KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 905 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TGGGGATCTTGCTTCCGGCCT 0.642 TNFRSF8 943 broad.mit.edu 37 1 12164492 12164492 + Nonsense_Mutation SNP C T T rs148756853 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:12164492C>T uc001atq.2 + 4 547 c.325C>T c.(325-327)CGA>TGA p.R109* TNFRSF8_uc010obc.1_5'UTR NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 109 TNFR-Cys 3.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CTGCGAATGTCGACCCGGCAT 0.577 DPH2 1802 broad.mit.edu 37 1 44437537 44437537 + Silent SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:44437537G>T uc001ckz.2 + 4 1158 c.963G>T c.(961-963)CGG>CGT p.R321R DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Silent_p.R186R|DPH2_uc001clb.2_Silent_p.R245R NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 321 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCCTGGGGCGGCCCACCCCTG 0.607 PTGFR 5737 broad.mit.edu 37 1 79002163 79002163 + Nonsense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:79002163C>T uc001din.2 + 3 1137 c.871C>T c.(871-873)CGA>TGA p.R291* PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 291 Helical; Name=7; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TTTTGCTCTCCGAATGGCAAC 0.388 HRNR 388697 broad.mit.edu 37 1 152193260 152193260 + Missense_Mutation SNP C G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:152193260C>G uc001ezt.1 - 3 921 c.845G>C c.(844-846)AGC>ACC p.S282T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 282 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGACCATAGCTGGAAGACGA 0.587 LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT - - rs113617356 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:152681693_152681698delTGTGGT uc001fak.2 + 1 171_176 c.142_147delTGTGGT c.(142-147)TGTGGTdel p.CG48del NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN late cornified envelope 4A 48_49 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 IQGAP3 128239 broad.mit.edu 37 1 156518190 156518190 + Missense_Mutation SNP G C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:156518190G>C uc001fpf.2 - 18 2158 c.2083C>G c.(2083-2085)CCT>GCT p.P695A NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 695 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGCCAGGAGGTTGCTCCCAG 0.557 ASPM 259266 broad.mit.edu 37 1 197061071 197061071 + Missense_Mutation SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:197061071G>T uc001gtu.2 - 22 9667 c.9410C>A c.(9409-9411)GCT>GAT p.A3137D ASPM_uc001gtv.2_Missense_Mutation_p.A1552D|ASPM_uc001gtw.3_Missense_Mutation_p.A985D NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3137 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTGCTTGTTAGCATTCTTCAC 0.338 OR2W5 441932 broad.mit.edu 37 1 247654810 247654810 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:247654810C>T uc001icz.1 + 1 381 c.381C>T c.(379-381)TGC>TGT p.C127C NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGCCGTCTGCCGGTCCCTGC 0.587 TRIM58 25893 broad.mit.edu 37 1 248039235 248039235 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248039235C>T uc001ido.2 + 6 953 c.905C>T c.(904-906)CCG>CTG p.P302L OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 302 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACGGCGCACCCGAGTCTGCTC 0.557 OR2L3 391192 broad.mit.edu 37 1 248224640 248224640 + Silent SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248224640G>T uc001idx.1 + 1 657 c.657G>T c.(655-657)CGG>CGT p.R219R OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 219 Cytoplasmic (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) CCTATGGCCGGGTTCTCCTTG 0.498 OR2G6 391211 broad.mit.edu 37 1 248685400 248685400 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr1:248685400C>T uc001ien.1 + 1 453 c.453C>T c.(451-453)AGC>AGT p.S151S NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATGGCTCAGCGGCCTCATCA 0.577 ITIH5 80760 broad.mit.edu 37 10 7605143 7605143 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:7605143G>A uc001ijq.2 - 14 2811 c.2732C>T c.(2731-2733)GCC>GTC p.A911V ITIH5_uc001ijp.2_Missense_Mutation_p.A697V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 911 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CAGTTTGGCGGCATTGTTCCT 0.522 ITIH5 80760 broad.mit.edu 37 10 7659109 7659109 + Missense_Mutation SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:7659109G>T uc001ijq.2 - 6 868 c.789C>A c.(787-789)GAC>GAA p.D263E ITIH5_uc001ijp.2_Missense_Mutation_p.D49E|ITIH5_uc001ijr.1_Missense_Mutation_p.D263E NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 263 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CTCTATTGACGTCATATCTAA 0.388 CYP2C18 1562 broad.mit.edu 37 10 96447617 96447617 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr10:96447617C>T uc001kjv.3 + 2 585 c.259C>T c.(259-261)CTG>TTG p.L87L CYP2C18_uc001kjw.3_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 87 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GAAGGAGGCCCTGATTGATCA 0.433 SOX6 55553 broad.mit.edu 37 11 16007846 16007846 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:16007846C>T uc001mme.2 - 15 2159 c.2126G>A c.(2125-2127)CGC>CAC p.R709H SOX6_uc001mmd.2_Missense_Mutation_p.R672H|SOX6_uc001mmf.2_Missense_Mutation_p.R669H|SOX6_uc001mmg.2_Missense_Mutation_p.R676H NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 696 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 AATGCAGGTGCGTTTCGGTCG 0.473 MRGPRX3 117195 broad.mit.edu 37 11 18158842 18158842 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:18158842G>A uc001mnu.2 + 3 454 c.93G>A c.(91-93)ACG>ACA p.T31T NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 31 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TGAGCTTCACGGGGCTGACGT 0.567 MYBPC3 4607 broad.mit.edu 37 11 47360181 47360181 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:47360181C>T uc001nfa.3 - 22 2253 c.2198G>A c.(2197-2199)CGC>CAC p.R733H MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 732 Ig-like C2-type 5. R -> C (in CMH4). cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GAAGATGCTGCGGTCCTTGGT 0.632 OR4B1 119765 broad.mit.edu 37 11 48238965 48238965 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:48238965G>A uc010rhs.1 + 1 604 c.604G>A c.(604-606)GGA>AGA p.G202R NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 GGCCAACAGTGGATTATTCTC 0.473 RTN4RL2 349667 broad.mit.edu 37 11 57235097 57235097 + Missense_Mutation SNP G C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:57235097G>C uc010rjt.1 + 2 47 c.47G>C c.(46-48)TGC>TCC p.C16S NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 16 axon regeneration anchored to plasma membrane receptor activity 0 GCCTCGGCCTGCCTCCTGCTG 0.682 OR1S1 219959 broad.mit.edu 37 11 57982381 57982381 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:57982381C>T uc010rkc.1 + 1 165 c.165C>T c.(163-165)AAC>AAT p.N55N NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 55 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) TGATTGGGAACGGGCTCATCA 0.443 MS4A3 932 broad.mit.edu 37 11 59837091 59837091 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:59837091C>T uc001nom.2 + 6 686 c.558C>T c.(556-558)TGC>TGT p.C186C MS4A3_uc001non.2_Silent_p.C140C|MS4A3_uc001noo.2_Silent_p.C63C NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 186 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TGGAATTATGCGTAACCATCT 0.413 POLD4 57804 broad.mit.edu 37 11 67120265 67120265 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:67120265G>A uc001okm.2 - 3 343 c.196C>T c.(196-198)CGG>TGG p.R66W LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR NM_021173 NP_066996 Q9HCU8 DPOD4_HUMAN DNA-directed DNA polymerase delta 4 66 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA-directed DNA polymerase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(15;3.08e-06) CGCTGCAGCCGTGTGATCCCT 0.637 MTNR1B 4544 broad.mit.edu 37 11 92714860 92714860 + Silent SNP C A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:92714860C>A uc001pdk.1 + 2 574 c.471C>A c.(469-471)ACC>ACA p.T157T NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 157 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCTGGCACACCCCTCTGCACA 0.572 CWF19L2 143884 broad.mit.edu 37 11 107200691 107200691 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr11:107200691C>T uc010rvp.1 - 17 2524 c.2494G>A c.(2494-2496)GCC>ACC p.A832T CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 832 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) ATGACATGGGCAAACCCTCCG 0.383 PRPF40B 25766 broad.mit.edu 37 12 50030600 50030600 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:50030600C>T uc001rur.1 + 15 1526 c.1462C>T c.(1462-1464)CGC>TGC p.R488C PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 488 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 TCGGGAGCGACGCCAACAACG 0.562 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CELA1 1990 broad.mit.edu 37 12 51723540 51723540 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:51723540G>A uc001ryi.1 - 7 728 c.687C>T c.(685-687)AGC>AGT p.S229S NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 229 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity breast(1) 1 TACAGCCCCGGCTGGACACAA 0.512 STAT2 6773 broad.mit.edu 37 12 56748251 56748251 + Missense_Mutation SNP A G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:56748251A>G uc001slc.2 - 8 859 c.781T>C c.(781-783)TGG>CGG p.W261R STAT2_uc001sld.2_Missense_Mutation_p.W257R|STAT2_uc010sqn.1_Missense_Mutation_p.W257R NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 261 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 ACCTCTCACCATGTCTCCAGC 0.527 UTP20 27340 broad.mit.edu 37 12 101750729 101750729 + Missense_Mutation SNP C A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:101750729C>A uc001tia.1 + 43 5716 c.5560C>A c.(5560-5562)CTC>ATC p.L1854I NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1854 HEAT 2. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GTGTGCCCTACTCAAGAACAG 0.363 TMEM132B 114795 broad.mit.edu 37 12 125834519 125834519 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr12:125834519G>A uc001uhe.1 + 2 582 c.574G>A c.(574-576)GAG>AAG p.E192K NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 192 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCTGCTGCCCGAGTGGTTCAG 0.632 RB1 5925 broad.mit.edu 37 13 49039351 49039351 + Nonsense_Mutation SNP T A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr13:49039351T>A uc001vcb.2 + 23 2502 c.2336T>A c.(2335-2337)TTG>TAG p.L779* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 779 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCTACCTTGTCACCAATA 0.398 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) FGF14 2259 broad.mit.edu 37 13 102375254 102375254 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr13:102375254G>A uc001vpe.2 - 5 671 c.671C>T c.(670-672)ACG>ATG p.T224M FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 224 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTACTTGGCGTCACCCCAGG 0.473 RNF31 55072 broad.mit.edu 37 14 24627141 24627141 + Missense_Mutation SNP C A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:24627141C>A uc001wmn.1 + 17 3011 c.2762C>A c.(2761-2763)TCC>TAC p.S921Y RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.S105Y NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 921 IBR-type 2. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GTGAAAAAGTCCCTGCACGGC 0.587 C14orf145 145508 broad.mit.edu 37 14 81329142 81329142 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:81329142G>A uc001xux.2 - 8 892 c.721C>T c.(721-723)CGC>TGC p.R241C C14orf145_uc001xuz.2_Missense_Mutation_p.R241C|C14orf145_uc001xuy.1_Missense_Mutation_p.R99C NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 241 Potential. centriole|spindle pole p.R241C(1) 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TGATCCTGGCGTCTTTCCACC 0.463 FLRT2 23768 broad.mit.edu 37 14 86088466 86088466 + Missense_Mutation SNP T C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr14:86088466T>C uc001xvr.2 + 2 1375 c.608T>C c.(607-609)CTC>CCC p.L203P FLRT2_uc010atd.2_Missense_Mutation_p.L203P NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 203 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTCCAGAATCTCACGAGCTTG 0.522 GATM 2628 broad.mit.edu 37 15 45668979 45668979 + Missense_Mutation SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:45668979G>T uc001zvc.2 - 2 437 c.108C>A c.(106-108)TTC>TTA p.F36L GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 36 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GGGTGCTCTGGAAAGTTCGCT 0.512 MEGF11 84465 broad.mit.edu 37 15 66191203 66191203 + Missense_Mutation SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:66191203G>T uc002apm.2 - 22 2978 c.2837C>A c.(2836-2838)ACA>AAA p.T946K MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 946 basolateral plasma membrane|integral to membrane pancreas(1) 1 GTCCTTAATTGTGGCGTAAGG 0.468 PGPEP1L 145814 broad.mit.edu 37 15 99512679 99512679 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr15:99512679C>T uc002bum.2 - 4 552 c.346G>A c.(346-348)GTG>ATG p.V116M PGPEP1L_uc010bop.2_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.2_RNA NM_001102612 NP_001096082 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase 1-like protein 116 proteolysis cysteine-type peptidase activity 0 GAAAAGATCACGTCGACACCC 0.627 TMEM219 124446 broad.mit.edu 37 16 29979390 29979390 + Missense_Mutation SNP A G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:29979390A>G uc002duw.2 + 4 567 c.400A>G c.(400-402)ACA>GCA p.T134A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc002duz.2_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_RNA NM_194280 NP_919256 Q86XT9 TM219_HUMAN transmembrane protein 219 134 integral to membrane 0 CAGGGTGACCACAGAAAGGAC 0.527 SNX20 124460 broad.mit.edu 37 16 50707501 50707501 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:50707501C>T uc002egk.2 - 4 940 c.767G>A c.(766-768)CGC>CAC p.R256H SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 256 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 GGCCTGCAGGCGCTGCAGGGC 0.741 CPNE2 221184 broad.mit.edu 37 16 57153520 57153520 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:57153520C>T uc002eks.1 + 7 868 c.639C>T c.(637-639)CCC>CCT p.P213P CPNE2_uc010cct.1_Silent_p.P239P|CPNE2_uc010ccu.1_Silent_p.P213P NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 213 C2 2. central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) TCACAGTGCCCTTGGTGTCCC 0.617 PKD1L2 114780 broad.mit.edu 37 16 81181065 81181065 + Missense_Mutation SNP C T T rs113696594 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr16:81181065C>T uc002fgh.1 - 30 5026 c.5026G>A c.(5026-5028)GCC>ACC p.A1676T PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1676 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGCCCAAGGCGGGGGATGGC 0.512 NEURL4 84461 broad.mit.edu 37 17 7220634 7220634 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:7220634G>A uc002gga.1 - 28 4381 c.4374C>T c.(4372-4374)TTC>TTT p.F1458F GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.F1456F NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1458 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CAGGCTCCTCGAACCCTACCC 0.607 TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:7577138C>G uc002gim.2 - 8 994 c.800G>C c.(799-801)CGG>CCG p.R267P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 267 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and 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.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) AAAGCTGTTCCGTCCCAGTAG 0.527 111 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) SLC47A2 146802 broad.mit.edu 37 17 19618087 19618087 + Missense_Mutation SNP C T T rs148775490 byFrequency TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:19618087C>T uc002gwe.3 - 3 416 c.241G>A c.(241-243)GGA>AGA p.G81R SLC47A2_uc002gwg.3_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.3_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 81 Helical; (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) ACAGAAACTCCGCAGACATTG 0.587 DHRS13 147015 broad.mit.edu 37 17 27228288 27228288 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:27228288C>T uc002hde.3 - 4 529 c.402G>A c.(400-402)GCG>GCA p.A134A DHRS13_uc002hdd.3_Silent_p.A84A|DHRS13_uc010wba.1_Silent_p.A53A NM_144683 NP_653284 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 134 extracellular region binding|oxidoreductase activity 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) GCAGGTTAAACGCCTCACGGG 0.592 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:56582201C>T uc002iwj.2 - 12 1348 c.1238G>A c.(1237-1239)CGC>CAC p.R413H NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532 AXIN2 8313 broad.mit.edu 37 17 63553948 63553948 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr17:63553948G>A uc002jfi.2 - 2 1080 c.791C>T c.(790-792)ACG>ATG p.T264M AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.2_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 264 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 AACAGTTTCCGTGGACCTCAC 0.537 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome EMR3 84658 broad.mit.edu 37 19 14785604 14785604 + Translation_Start_Site SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:14785604C>T uc002mzi.3 - 1 127 c.-21G>A c.(-23--19)GCGTG>GCATG EMR3_uc010dzp.2_Translation_Start_Site|EMR3_uc010xnv.1_Translation_Start_Site NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 GGGTATCCCACGCCAGCCAGC 0.507 F2RL3 9002 broad.mit.edu 37 19 17000950 17000950 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:17000950G>A uc002nfa.2 + 2 851 c.676G>A c.(676-678)GTG>ATG p.V226M NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 226 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CTCCGATCGCGTGCTCTGCCA 0.701 FFAR3 2865 broad.mit.edu 37 19 35849928 35849928 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:35849928C>T uc002nzd.2 + 2 211 c.136C>T c.(136-138)CGC>TGC p.R46C FFAR3_uc010xsu.1_RNA NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 46 Cytoplasmic. integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GCTGCAGCGCCGCCCGGTGGC 0.637 ZNF229 7772 broad.mit.edu 37 19 44932920 44932920 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:44932920G>A uc002oze.1 - 6 2470 c.2036C>T c.(2035-2037)ACG>ATG p.T679M ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) CTTTTTTCCCGTGTGGACTCG 0.512 ZNF534 147658 broad.mit.edu 37 19 52942354 52942354 + Silent SNP A G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr19:52942354A>G uc002pzk.2 + 4 1741 c.1680A>G c.(1678-1680)GAA>GAG p.E560E ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATACTGGAGAAAAGCCTTACA 0.433 EHD3 30845 broad.mit.edu 37 2 31484475 31484475 + Missense_Mutation SNP A T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:31484475A>T uc002rnu.2 + 5 1584 c.976A>T c.(976-978)AAC>TAC p.N326Y EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 326 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CGGGAAGGACAACAAGAAGAA 0.552 DPP10 57628 broad.mit.edu 37 2 116497460 116497460 + Silent SNP G A A rs146251151 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:116497460G>A uc002tla.1 + 9 1300 c.843G>A c.(841-843)CCG>CCA p.P281P DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 281 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AGCAGTATCCGTATCCTAAGG 0.423 UGGT1 56886 broad.mit.edu 37 2 128939777 128939777 + Missense_Mutation SNP G T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:128939777G>T uc002tps.2 + 37 4335 c.4157G>T c.(4156-4158)TGT>TTT p.C1386F UGGT1_uc002tpr.2_Missense_Mutation_p.C1362F NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1386 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 ACTCCTTTCTGTGACAGCCGA 0.418 GCA 25801 broad.mit.edu 37 2 163204170 163204170 + Missense_Mutation SNP G C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:163204170G>C uc002ucg.2 + 2 286 c.110G>C c.(109-111)GGA>GCA p.G37A GCA_uc010zcu.1_Missense_Mutation_p.G18A NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 37 cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 CTCCTCGATGGATACTCTGGG 0.463 TTN 7273 broad.mit.edu 37 2 179598493 179598493 + Missense_Mutation SNP A G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:179598493A>G uc010zfg.1 - 50 12115 c.11891T>C c.(11890-11892)ATC>ACC p.I3964T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4891 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) GTCTTCTCTGATGACCTCTTG 0.448 GLS 2744 broad.mit.edu 37 2 191765419 191765419 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr2:191765419G>A uc002usf.2 + 4 999 c.735G>A c.(733-735)AAG>AAA p.K245K GLS_uc002use.2_Silent_p.K245K NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 245 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGGAGGAAAGGTAATGCTTT 0.323 ZNFX1 57169 broad.mit.edu 37 20 47887010 47887010 + Nonsense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr20:47887010G>A uc002xui.2 - 3 1586 c.1339C>T c.(1339-1341)CGA>TGA p.R447* NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 447 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAGAGCAATCGTTTGGAATTC 0.468 PRIC285 85441 broad.mit.edu 37 20 62200284 62200284 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr20:62200284G>A uc002yfm.2 - 6 2049 c.1157C>T c.(1156-1158)GCG>GTG p.A386V PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 386 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TCCCGGAGGCGCGAAGAGCAT 0.677 CYTSA 23384 broad.mit.edu 37 22 24807598 24807598 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr22:24807598C>T uc002zzw.2 + 15 3437 c.3130C>T c.(3130-3132)CTG>TTG p.L1044L CYTSA_uc002zzv.3_Silent_p.L1044L|CYTSA_uc011ajq.1_Intron NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 1044 CH. cell cycle|cell division 0 GAATGATGGGCTGGCCTTCTG 0.493 RBMS3 27303 broad.mit.edu 37 3 30032601 30032601 + Missense_Mutation SNP C G G rs143165101 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:30032601C>G uc003cel.2 + 14 1438 c.1208C>G c.(1207-1209)ACA>AGA p.T403R RBMS3_uc003cek.2_Missense_Mutation_p.T387R|RBMS3_uc010hfq.2_Missense_Mutation_p.T400R|RBMS3_uc003cem.2_Missense_Mutation_p.T385R|RBMS3_uc010hfr.2_Missense_Mutation_p.T387R NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 403 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) TCTCCCCAGACAGTGGCACCT 0.483 CCR9 10803 broad.mit.edu 37 3 45942421 45942421 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:45942421G>A uc003coz.1 + 3 298 c.141G>A c.(139-141)GCG>GCA p.A47A LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Silent_p.A35A|CCR9_uc003cpa.1_Silent_p.A35A NM_031200 NP_112477 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 isoform A 47 Extracellular (Potential). cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GGCAGTTTGCGAGCCATTTCC 0.468 STAB1 23166 broad.mit.edu 37 3 52540233 52540233 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:52540233G>A uc003dej.2 + 17 1871 c.1797G>A c.(1795-1797)GCG>GCA p.A599A STAB1_uc003dei.1_Silent_p.A599A NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 599 Extracellular (Potential).|FAS1 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCACCATGGCGAACCAGGTCC 0.622 GCET2 257144 broad.mit.edu 37 3 111852081 111852081 + Translation_Start_Site SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:111852081G>A uc003dys.1 - 1 37 c.-113C>T c.(-115--111)CACGG>CATGG GCET2_uc003dyt.1_Translation_Start_Site NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform mitochondrion 0 CTGGCCACCCGTGCAGAGACA 0.557 STXBP5L 9515 broad.mit.edu 37 3 120764376 120764376 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:120764376G>A uc003eec.3 + 5 604 c.464G>A c.(463-465)CGG>CAG p.R155Q STXBP5L_uc011bji.1_Missense_Mutation_p.R155Q NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 155 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAATTTAACCGGGAACGGTAA 0.358 MECOM 2122 broad.mit.edu 37 3 168833869 168833869 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:168833869C>T uc003ffi.3 - 7 1496 c.1227G>A c.(1225-1227)TCG>TCA p.S409S MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpj.1_Silent_p.S597S|MECOM_uc011bpk.1_Silent_p.S399S|MECOM_uc010hwn.2_Silent_p.S597S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 409 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GATCAGAGCCCGAGGTTGTTT 0.423 ACAP2 23527 broad.mit.edu 37 3 195102729 195102729 + Missense_Mutation SNP A G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:195102729A>G uc003fun.3 - 3 375 c.134T>C c.(133-135)ATG>ACG p.M45T ACAP2_uc003fuo.2_Missense_Mutation_p.M45T NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 45 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 AGTATCAATCATTGCAATACA 0.343 TNK2 10188 broad.mit.edu 37 3 195597005 195597006 + Frame_Shift_Ins INS - G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr3:195597005_195597006insG uc003fvu.1 - 11 2065_2066 c.1522_1523insC c.(1522-1524)CAGfs p.Q508fs TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 508 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TCCTAGATGCTGGGGGGGCCGG 0.614 GPR78 27201 broad.mit.edu 37 4 8583361 8583361 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr4:8583361G>A uc003glk.2 + 1 1071 c.652G>A c.(652-654)GCC>ACC p.A218T CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 218 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 CGCGCTGCTCGCCGACCTGCA 0.687 FGB 2244 broad.mit.edu 37 4 155487823 155487823 + Missense_Mutation SNP A T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr4:155487823A>T uc003ioa.3 + 3 528 c.489A>T c.(487-489)AAA>AAT p.K163N FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.K160N|FGB_uc010ipv.2_Missense_Mutation_p.K101N|FGB_uc010ipw.2_Missense_Mutation_p.K160N|FGB_uc003ioc.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 163 Potential. Cleavage; by plasmin; to break down fibrin clots. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGCAAGTAAAAGGTAGATATC 0.403 C5orf42 65250 broad.mit.edu 37 5 37167302 37167302 + Missense_Mutation SNP T A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:37167302T>A uc011cpa.1 - 35 7478 c.7247A>T c.(7246-7248)CAA>CTA p.Q2416L C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2416 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGGGATAAGTTGTGTTTTTTT 0.313 C7 730 broad.mit.edu 37 5 40976859 40976859 + Silent SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:40976859G>A uc003jmh.2 + 16 2196 c.2082G>A c.(2080-2082)CCG>CCA p.P694P C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 694 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TAGAAAATCCGTTAACACAGG 0.433 ACTBL2 345651 broad.mit.edu 37 5 56778318 56778318 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:56778318C>T uc003jrm.2 - 1 319 c.217G>A c.(217-219)GAG>AAG p.E73K NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 73 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) ACTCCATGCTCGATAGGATAC 0.542 GPR98 84059 broad.mit.edu 37 5 89990447 89990447 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:89990447G>A uc003kju.2 + 33 7970 c.7874G>A c.(7873-7875)CGT>CAT p.R2625H GPR98_uc003kjt.2_Missense_Mutation_p.R331H|GPR98_uc003kjv.2_Missense_Mutation_p.R225H NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2625 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTCGAATGGCGTGTTGTTGGT 0.473 PCDHA2 56146 broad.mit.edu 37 5 140176747 140176747 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:140176747C>T uc003lhd.2 + 1 2304 c.2198C>T c.(2197-2199)GCG>GTG p.A733V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHA2_uc011czy.1_Missense_Mutation_p.A733V NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCGCGCCAGGAAAG 0.682 PCDHGB1 56104 broad.mit.edu 37 5 140730079 140730079 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:140730079C>T uc003ljo.1 + 1 252 c.252C>T c.(250-252)AAC>AAT p.N84N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.N84N NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 84 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTAGTGAACGGTAGGATAG 0.473 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM71B 153745 broad.mit.edu 37 5 156592869 156592869 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:156592869C>T uc003lwn.2 - 1 411 c.311G>A c.(310-312)CGG>CAG p.R104Q NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 104 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTGGCAAACCGGCCCCATCT 0.542 RANBP17 64901 broad.mit.edu 37 5 170725815 170725815 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:170725815C>T uc003mba.2 + 28 3236 c.3220C>T c.(3220-3222)CGC>TGC p.R1074C RANBP17_uc003mbb.2_Missense_Mutation_p.R399C|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 1074 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAGGCGTTGCGCAGTGATGG 0.502 T TRD@ ALL FBXW11 23291 broad.mit.edu 37 5 171299943 171299943 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr5:171299943G>A uc003mbm.1 - 9 1581 c.1210C>T c.(1210-1212)CGG>TGG p.R404W FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 404 WD 5. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAATGCCCCGCTTGTGCCCA 0.463 BCLAF1 9774 broad.mit.edu 37 6 136597406 136597406 + Missense_Mutation SNP C A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr6:136597406C>A uc003qgx.1 - 5 1510 c.1257G>T c.(1255-1257)CAG>CAT p.Q419H BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 419 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AACTTTTACCCTGATCTGCGA 0.418 CDK13 8621 broad.mit.edu 37 7 40127783 40127783 + Nonsense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:40127783C>T uc003thh.3 + 12 3370 c.3088C>T c.(3088-3090)CAG>TAG p.Q1030* CDK13_uc003thi.3_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q81* NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1030 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 AAGACAGAAGCAGATGGGCAT 0.423 ABCA13 154664 broad.mit.edu 37 7 48287917 48287917 + Missense_Mutation SNP C G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:48287917C>G uc003toq.2 + 14 1766 c.1741C>G c.(1741-1743)CTT>GTT p.L581V ABCA13_uc010kyr.2_Missense_Mutation_p.L84V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 581 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGGCAGGAACTTGAGATGCA 0.428 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PSPH 5723 broad.mit.edu 37 7 56088826 56088826 + Missense_Mutation SNP C G G TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:56088826C>G uc003trg.2 - 3 443 c.80G>C c.(79-81)AGA>ACA p.R27T PSPH_uc003trh.2_Missense_Mutation_p.R27T|PSPH_uc003tri.2_Missense_Mutation_p.R27T|PSPH_uc003trj.2_Missense_Mutation_p.R56T NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 27 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCCTTCTTCTCTGATGACCGT 0.448 ZNF735 730291 broad.mit.edu 37 7 63680236 63680236 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:63680236C>T uc011kdn.1 + 4 807 c.807C>T c.(805-807)TAC>TAT p.Y269Y NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 269 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAAACCCTACGCATGTGAAG 0.458 ZNF107 51427 broad.mit.edu 37 7 64167281 64167281 + Missense_Mutation SNP C A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:64167281C>A uc003ttd.2 + 7 1385 c.599C>A c.(598-600)GCC>GAC p.A200D ZNF107_uc003tte.2_Missense_Mutation_p.A200D NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 200 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTTAAACAGGCCTCACACCTT 0.373 MAGI2 9863 broad.mit.edu 37 7 77807399 77807399 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:77807399C>T uc003ugx.2 - 14 2586 c.2332G>A c.(2332-2334)GAT>AAT p.D778N MAGI2_uc003ugy.2_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 778 PDZ 4. 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) AGATGAACATCCAATTCCTTA 0.453 PCLO 27445 broad.mit.edu 37 7 82582560 82582560 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:82582560G>A uc003uhx.2 - 5 7998 c.7709C>T c.(7708-7710)CCA>CTA p.P2570L PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2501 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAAAATCTTGGTGAAGACTT 0.403 GRM3 2913 broad.mit.edu 37 7 86416220 86416220 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86416220G>A uc003uid.2 + 3 2211 c.1112G>A c.(1111-1113)CGC>CAC p.R371H GRM3_uc010lef.2_Missense_Mutation_p.R369H|GRM3_uc010leg.2_Missense_Mutation_p.R243H|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 371 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AACCACAGGCGCGTCTGCGAC 0.567 GRM3 2913 broad.mit.edu 37 7 86416334 86416334 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86416334G>A uc003uid.2 + 3 2325 c.1226G>A c.(1225-1227)CGC>CAC p.R409H GRM3_uc010lef.2_Missense_Mutation_p.R407H|GRM3_uc010leg.2_Missense_Mutation_p.R281H|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 409 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAAATGCAGCGCACCCTCTGT 0.498 GRM3 2913 broad.mit.edu 37 7 86468918 86468918 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:86468918C>T uc003uid.2 + 4 3187 c.2088C>T c.(2086-2088)ATC>ATT p.I696I GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.I568I|GRM3_uc010leh.2_Silent_p.I288I NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 696 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane p.I696T(1) lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGGGTCTGATCCTGGTGCAAA 0.527 STEAP1 26872 broad.mit.edu 37 7 89791325 89791325 + Missense_Mutation SNP T C C TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:89791325T>C uc003ujx.2 + 4 895 c.695T>C c.(694-696)CTG>CCG p.L232P STEAP1_uc010lem.2_Missense_Mutation_p.L232P NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 232 Ferric oxidoreductase.|Helical; (Potential). electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) ATACTGGCTCTGTTGGCTGTG 0.378 TRPV5 56302 broad.mit.edu 37 7 142611855 142611855 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr7:142611855G>A uc003wby.1 - 12 1738 c.1474C>T c.(1474-1476)CGT>TGT p.R492C NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 492 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CAGCAGAAACGCATTAGGTCT 0.463 GATA4 2626 broad.mit.edu 37 8 11607623 11607623 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:11607623G>A uc003wuc.2 + 4 1341 c.787G>A c.(787-789)GCC>ACC p.A263T GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc011kxc.1_Missense_Mutation_p.A264T NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 263 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTTGCAGTCCGCCTCCCGCCG 0.637 ENPP2 5168 broad.mit.edu 37 8 120629759 120629759 + Missense_Mutation SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:120629759C>T uc003yot.1 - 6 610 c.524G>A c.(523-525)CGT>CAT p.R175H ENPP2_uc003yos.1_Missense_Mutation_p.R175H|ENPP2_uc010mdd.1_Missense_Mutation_p.R175H NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 175 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTATGATGCACGGAAGCCATC 0.373 BAI1 575 broad.mit.edu 37 8 143625027 143625027 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr8:143625027C>T uc003ywm.2 + 29 4698 c.4515C>T c.(4513-4515)CAC>CAT p.H1505H NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1505 Cytoplasmic (Potential).|Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGCTGCAGCACGCAGCGGAGA 0.662 Unknown 0 broad.mit.edu 37 9 90746228 90746228 + Missense_Mutation SNP A T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:90746228A>T uc011lti.1 - 4 1753 c.1724T>A c.(1723-1725)ATC>AAC p.I575N SubName: Full=cDNA FLJ59639; GGCTTTCAGGATGTTTTCTAT 0.522 OR13C9 286362 broad.mit.edu 37 9 107379553 107379553 + Silent SNP C T T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:107379553C>T uc011lvr.1 - 1 933 c.933G>A c.(931-933)CCG>CCA p.P311P NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACCTTCTGTTCGGTAGGTGTT 0.353 BAT2L1 84726 broad.mit.edu 37 9 134350722 134350722 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:134350722G>A uc004can.3 + 15 3261 c.3206G>A c.(3205-3207)CGT>CAT p.R1069H BAT2L1_uc010mzj.1_Missense_Mutation_p.R652H|BAT2L1_uc004cao.3_Missense_Mutation_p.R427H NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1069 protein binding 0 GGCCGGGGCCGTGGTTTCAGA 0.612 CEL 1056 broad.mit.edu 37 9 135945963 135945963 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chr9:135945963G>A uc010naa.1 + 10 1427 c.1411G>A c.(1411-1413)GCC>ACC p.A471T NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 468 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GAAGCCCTTCGCCACCCCCAC 0.582 EGFL6 25975 broad.mit.edu 37 X 13624543 13624543 + Missense_Mutation SNP G A A TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 65723119-bdfe-46f0-b629-c171023abd71 5b9d2db6-f2b7-47b8-8105-ba44ff3274b7 g.chrX:13624543G>A uc004cvi.2 + 6 806 c.566G>A c.(565-567)CGA>CAA p.R189Q EGFL6_uc004cvj.2_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 189 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 CCCTACAATCGAAGATGTGTG 0.398