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 PRAMEF12 390999 broad.mit.edu 37 1 12836029 12836029 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:12836029T>C uc001aui.2 + 2 658 c.631T>C c.(631-633)TGC>CGC p.C211R NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 211 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGAAGTGTGCTGCCCGTG 0.517 SGIP1 84251 broad.mit.edu 37 1 67133216 67133216 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:67133216C>T uc001dcr.2 + 9 692 c.475C>T c.(475-477)CGC>TGC p.R159C SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|uc010ope.1_Intron NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 159 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 ATCACAGAGGCGCAGCCCGGT 0.418 GBP1 2633 broad.mit.edu 37 1 89521850 89521850 + Missense_Mutation SNP C T T rs140785577 TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:89521850C>T uc001dmx.2 - 8 1437 c.1217G>A c.(1216-1218)CGT>CAT p.R406H NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 406 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) AGCTGAGCAACGATCTGATGA 0.408 NBPF10 100132406 broad.mit.edu 37 1 145311916 145311916 + Missense_Mutation SNP A G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:145311916A>G uc001end.3 + 14 2019 c.1984A>G c.(1984-1986)ATA>GTA p.I662V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'UTR|NBPF10_uc010oyl.1_5'UTR|NBPF10_uc010oyj.1_5'UTR|NBPF10_uc010oym.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGCCTTTTACATATTGGAGCA 0.458 HRNR 388697 broad.mit.edu 37 1 152188002 152188002 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:152188002T>C uc001ezt.1 - 3 6179 c.6103A>G c.(6103-6105)AGC>GGC p.S2035G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2035 22. 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) TGACCTGAGCTAGCTCCATGT 0.567 BCAN 63827 broad.mit.edu 37 1 156617796 156617796 + Silent SNP A G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:156617796A>G uc001fpp.2 + 5 999 c.663A>G c.(661-663)CGA>CGG p.R221R BCAN_uc001fpo.2_Silent_p.R221R NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 221 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGACCCCACGAGAGGCCTGTT 0.532 PYHIN1 149628 broad.mit.edu 37 1 158914718 158914718 + Silent SNP C A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:158914718C>A uc001ftb.2 + 7 1490 c.1245C>A c.(1243-1245)CCC>CCA p.P415P PYHIN1_uc001ftc.2_Silent_p.P406P|PYHIN1_uc001ftd.2_Silent_p.P415P|PYHIN1_uc001fte.2_Silent_p.P406P NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 415 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) TGGCACTACCCCAGGAACAGA 0.433 OR2T6 254879 broad.mit.edu 37 1 248551593 248551593 + Missense_Mutation SNP G T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr1:248551593G>T uc001iei.1 + 1 684 c.684G>T c.(682-684)ATG>ATT p.M228I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 228 Cytoplasmic (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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCATCAGATGACATCGGCTG 0.502 ANO9 338440 broad.mit.edu 37 11 420522 420522 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:420522T>C uc001lpi.2 - 19 1812 c.1727A>G c.(1726-1728)GAC>GGC p.D576G ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 576 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CTTGATGGCGTCCAGGCGGAT 0.687 OR51L1 119682 broad.mit.edu 37 11 5020398 5020398 + Silent SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:5020398T>C uc010qyu.1 + 1 186 c.186T>C c.(184-186)TAT>TAC p.Y62Y NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCCATGTATTACTTTATTT 0.448 LYVE1 10894 broad.mit.edu 37 11 10580685 10580685 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:10580685G>A uc001miv.2 - 6 1228 c.942C>T c.(940-942)ACC>ACT p.T314T uc001miu.2_Intron|LYVE1_uc010rca.1_Silent_p.T210T NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 314 Cytoplasmic (Potential). anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction p.T314T(1) central_nervous_system(1)|skin(1) 2 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) GGCATCGCACGGTAGTTTTGC 0.463 MRGPRX1 259249 broad.mit.edu 37 11 18955854 18955854 + Missense_Mutation SNP A C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:18955854A>C uc001mpg.2 - 1 696 c.478T>G c.(478-480)TTA>GTA p.L160V NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 160 Helical; Name=4; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AAGCCACATAACATCCACTCC 0.557 ATG2A 23130 broad.mit.edu 37 11 64663974 64663974 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:64663974G>A uc001obx.2 - 39 5502 c.5387C>T c.(5386-5388)GCC>GTC p.A1796V ATG2A_uc001obw.2_Missense_Mutation_p.A561V NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1796 protein binding ovary(1)|central_nervous_system(1) 2 TTCCAGGGCGGCAGAGGCTGT 0.637 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay DSCAML1 57453 broad.mit.edu 37 11 117306485 117306485 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:117306485C>T uc001prh.1 - 27 4933 c.4931G>A c.(4930-4932)GGT>GAT p.G1644D NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1584 Extracellular (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) ATCCCCTTCACCTTGAGCAGA 0.522 VPS11 55823 broad.mit.edu 37 11 118941054 118941054 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:118941054C>T uc010ryx.1 + 5 625 c.583C>T c.(583-585)CGC>TGC p.R195C VPS11_uc010ryy.1_Missense_Mutation_p.R41C NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 195 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) ATTGGCCTTTCGCCAAGCAGG 0.517 ROBO4 54538 broad.mit.edu 37 11 124765757 124765757 + Missense_Mutation SNP A C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr11:124765757A>C uc001qbg.2 - 5 871 c.731T>G c.(730-732)CTG>CGG p.L244R ROBO4_uc010sas.1_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 244 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CACATTTTCCAGCTGAATTCG 0.602 PTPN6 5777 broad.mit.edu 37 12 7069548 7069548 + Silent SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr12:7069548T>C uc001qsb.2 + 14 1865 c.1623T>C c.(1621-1623)TAT>TAC p.Y541Y PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 541 apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 ACATCACCTATCCCCCAGCCA 0.647 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 ZC3H13 23091 broad.mit.edu 37 13 46559437 46559437 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr13:46559437T>C uc010tfw.1 - 9 1721 c.1715A>G c.(1714-1716)GAA>GGA p.E572G ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 572 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTTACCCTTTTCAGGTAACTC 0.358 OR4K13 390433 broad.mit.edu 37 14 20502502 20502502 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr14:20502502C>T uc010tkz.1 - 1 416 c.416G>A c.(415-417)CGG>CAG p.R139Q NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGTGAGCACCCGTGGGCTCAT 0.488 NIPA2 81614 broad.mit.edu 37 15 23006662 23006662 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr15:23006662C>T uc001yux.2 - 8 1255 c.642G>A c.(640-642)CGG>CGA p.R214R NIPA2_uc001yuy.2_Silent_p.R214R|NIPA2_uc001yuz.2_Silent_p.R214R|NIPA2_uc001yva.2_Silent_p.R195R|NIPA2_uc001yvb.2_Silent_p.R214R|NIPA2_uc010ayb.2_Silent_p.R195R NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 214 Extracellular (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CCAGGGGATGCCGCAGCACAG 0.502 MKRN3 7681 broad.mit.edu 37 15 23811322 23811322 + Silent SNP C T T rs36072495 byFrequency TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr15:23811322C>T uc001ywh.3 + 1 869 c.393C>T c.(391-393)GGC>GGT p.G131G MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.G131G NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 131 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTGAGGGTGGCGTTTCGCCGC 0.622 CLCN7 1186 broad.mit.edu 37 16 1507700 1507700 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr16:1507700C>T uc002clv.2 - 8 843 c.733G>A c.(733-735)GGA>AGA p.G245R CLCN7_uc002clw.2_Missense_Mutation_p.G221R NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 245 Selectivity filter part_2 (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) GTTACCTTTCCCACGGCCAGG 0.632 PKD1 5310 broad.mit.edu 37 16 2147417 2147417 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr16:2147417C>T uc002cos.1 - 33 10517 c.10308G>A c.(10306-10308)CAG>CAA p.Q3436Q PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3436 Cytoplasmic (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCCGTGCCAGCTGCCGCAGAT 0.677 GPR139 124274 broad.mit.edu 37 16 20043354 20043354 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr16:20043354C>T uc002dgu.1 - 2 927 c.765G>A c.(763-765)GCG>GCA p.A255A GPR139_uc010vaw.1_Silent_p.A162A NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 255 Extracellular (Potential). integral to membrane|plasma membrane ovary(2) 2 TCTGGATGGGCGCCCCATAGA 0.532 KRT13 3860 broad.mit.edu 37 17 39659672 39659672 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr17:39659672C>T uc002hwu.1 - 3 665 c.602G>A c.(601-603)CGC>CAC p.R201H KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc002hww.2_Missense_Mutation_p.R94H|KRT13_uc010wfr.1_Missense_Mutation_p.R94H|KRT13_uc010cxo.2_Missense_Mutation_p.R201H|KRT13_uc002hwx.1_Missense_Mutation_p.R189H NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 201 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CACGCTCTGGCGCAGGGCCAG 0.478 KRT14 3861 broad.mit.edu 37 17 39741254 39741254 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr17:39741254C>T uc002hxf.1 - 2 642 c.581G>A c.(580-582)CGT>CAT p.R194H JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R194H NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 194 Coil 1B.|Rod. 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) CGCGGCCAGACGGGCATTGTC 0.502 MED13 9969 broad.mit.edu 37 17 60060308 60060308 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr17:60060308C>T uc002izo.2 - 16 3133 c.3056G>A c.(3055-3057)CGG>CAG p.R1019Q NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1019 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 ACGAGGAGTCCGAGGAGTCCT 0.512 FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG - - TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr18:34261459_34261460delAG uc002kzt.1 + 12 1468_1469 c.1371_1372delAG c.(1369-1374)GCAGAGfs p.A457fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457_458 Potential. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 TMEM146 257062 broad.mit.edu 37 19 5778542 5778542 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr19:5778542G>A uc002mda.2 + 22 2313 c.2252G>A c.(2251-2253)CGC>CAC p.R751H NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 751 Cytoplasmic (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CGCACAGCACGCGGCCGCAGG 0.612 MUC16 94025 broad.mit.edu 37 19 9067788 9067788 + Frame_Shift_Del DEL G - - TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr19:9067788delG uc002mkp.2 - 3 19862 c.19658delC c.(19657-19659)ACAfs p.T6553fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6555 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 CAGCATATCTGTGGTCTTCAC 0.473 PAPL 390928 broad.mit.edu 37 19 39591660 39591660 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr19:39591660C>T uc002oki.2 + 8 1153 c.879C>T c.(877-879)AAC>AAT p.N293N PAPL_uc010egl.2_Missense_Mutation_p.T252M NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 293 extracellular region acid phosphatase activity|metal ion binding 0 ACTGCTCCAACGCAGATCTGG 0.612 KDELR1 10945 broad.mit.edu 37 19 48887570 48887570 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr19:48887570C>T uc002pjb.1 - 4 716 c.521G>A c.(520-522)GGC>GAC p.G174D KDELR1_uc002pja.1_Missense_Mutation_p.G112D NM_006801 NP_006792 P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum 174 Lumenal (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity 0 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) GTCGAAGAAGCCCTCGAAATG 0.542 TRPM4 54795 broad.mit.edu 37 19 49705399 49705400 + Splice_Site INS - T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr19:49705399_49705400insT uc002pmw.2 + 20 3203 c.3131_splice c.e20+1 p.S1044_splice TRPM4_uc010emu.2_Splice_Site_p.S899_splice|TRPM4_uc010yak.1_Splice_Site_p.S508_splice|TRPM4_uc002pmx.2_Splice_Site_p.S870_splice|TRPM4_uc010emv.2_Splice_Site_p.S929_splice|TRPM4_uc010yal.1_Splice_Site_p.S690_splice|TRPM4_uc002pmy.2_Splice_Site_p.S386_splice NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCATGTTCAGGTGAGGCCTGAC 0.550 ANKRD53 79998 broad.mit.edu 37 2 71209104 71209104 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr2:71209104C>T uc002shl.3 + 4 857 c.656C>T c.(655-657)GCC>GTC p.A219V ANKRD53_uc002shk.3_Missense_Mutation_p.A219V|ANKRD53_uc002shm.3_Intron NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 219 ANK 3. 0 CACCTGGCAGCCCGTGACGGC 0.577 DYSF 8291 broad.mit.edu 37 2 71871138 71871138 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr2:71871138T>C uc002sie.2 + 41 4830 c.4454T>C c.(4453-4455)ATA>ACA p.I1485T DYSF_uc010feg.2_Missense_Mutation_p.I1516T|DYSF_uc010feh.2_Missense_Mutation_p.I1492T|DYSF_uc002sig.3_Missense_Mutation_p.I1471T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.I1506T|DYSF_uc010fef.2_Missense_Mutation_p.I1523T|DYSF_uc010fei.2_Missense_Mutation_p.I1502T|DYSF_uc010fek.2_Missense_Mutation_p.I1503T|DYSF_uc010fej.2_Missense_Mutation_p.I1493T|DYSF_uc010fel.2_Missense_Mutation_p.I1472T|DYSF_uc010feo.2_Missense_Mutation_p.I1517T|DYSF_uc010fem.2_Missense_Mutation_p.I1507T|DYSF_uc010fen.2_Missense_Mutation_p.I1524T|DYSF_uc002sif.2_Missense_Mutation_p.I1486T|DYSF_uc010yqy.1_Missense_Mutation_p.I366T|DYSF_uc010yqz.1_Missense_Mutation_p.I246T NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1485 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TTTGCCTCCATAGGGGAGAGG 0.502 FAM123C 205147 broad.mit.edu 37 2 131521578 131521578 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr2:131521578C>T uc002trw.2 + 2 2123 c.1933C>T c.(1933-1935)CCT>TCT p.P645S FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 645 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCAGAAGGAGCCTGGGCCACC 0.602 SCN9A 6335 broad.mit.edu 37 2 167085307 167085307 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr2:167085307C>T uc010fpl.2 - 22 4408 c.4067G>A c.(4066-4068)CGT>CAT p.R1356H uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1367 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ACATTCGGAACGATTTGGAAC 0.398 HDLBP 3069 broad.mit.edu 37 2 242173290 242173290 + Missense_Mutation SNP A G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr2:242173290A>G uc002waz.2 - 24 3461 c.3233T>C c.(3232-3234)ATC>ACC p.I1078T HDLBP_uc002wba.2_Missense_Mutation_p.I1078T|HDLBP_uc002wbb.2_Missense_Mutation_p.I1030T NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1078 KH 13. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTCCAACCGGATTTGGGTAAT 0.498 SLC24A3 57419 broad.mit.edu 37 20 19677519 19677519 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr20:19677519C>T uc002wrl.2 + 14 1767 c.1570C>T c.(1570-1572)CCT>TCT p.P524S NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 524 Alpha-2.|Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GACCAGCGTGCCTGACTGCAT 0.448 ZSWIM1 90204 broad.mit.edu 37 20 44512381 44512381 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr20:44512381T>C uc010ghi.2 + 2 1263 c.1150T>C c.(1150-1152)TGC>CGC p.C384R ZSWIM1_uc010zxh.1_Missense_Mutation_p.C257R NM_080603 NP_542170 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 384 SWIM-type. zinc ion binding skin(1) 1 Myeloproliferative disorder(115;0.028) CAGCTGCAGCTGCTACTTTAA 0.597 COL20A1 57642 broad.mit.edu 37 20 61938888 61938888 + Silent SNP C G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr20:61938888C>G uc011aau.1 + 6 643 c.543C>G c.(541-543)GTC>GTG p.V181V COL20A1_uc011aav.1_Silent_p.V2V NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 181 VWFA. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CTGACATGGTCTTCCTGGTGG 0.652 TMPRSS2 7113 broad.mit.edu 37 21 42842599 42842599 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr21:42842599C>T uc002yzj.2 - 11 1281 c.1147G>A c.(1147-1149)GGG>AGG p.G383R TMPRSS2_uc010gor.2_Missense_Mutation_p.G420R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 383 Peptidase S1.|Extracellular (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GCCCCCCACCCGGAAATCCAG 0.488 T ERG|ETV1|ETV4|ETV5 prostate FBXO7 25793 broad.mit.edu 37 22 32887162 32887162 + Nonsense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr22:32887162C>T uc003amq.2 + 6 1244 c.961C>T c.(961-963)CGA>TGA p.R321* FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amr.2_Nonsense_Mutation_p.R207*|FBXO7_uc003ams.2_Nonsense_Mutation_p.R165*|FBXO7_uc003amt.2_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.2_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.2_5'Flank NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 321 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 GGCTTTTACCCGACAAGGTAA 0.368 NCRNA00207 388910 broad.mit.edu 37 22 44967271 44967271 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr22:44967271G>A uc003bev.1 + 3 208 c.141G>A c.(139-141)ACG>ACA p.T47T NCRNA00207_uc011aqg.1_RNA|NCRNA00207_uc011aqh.1_RNA NM_001012986 NP_001013004 SubName: Full=Novel gene; 0 cccactttacggatgaggaaa 0.433 CCK 885 broad.mit.edu 37 3 42305011 42305011 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr3:42305011C>T uc003clc.1 - 2 321 c.112G>A c.(112-114)GAG>AAG p.E38K CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K NM_000729 NP_000720 P06307 CCKN_HUMAN cholecystokinin preproprotein 38 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity p.E38K(1) central_nervous_system(1) 1 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) CGGGGCGCCTCCTCTGCCCGC 0.711 MANF 7873 broad.mit.edu 37 3 51425306 51425306 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr3:51425306T>C uc003dbc.2 + 3 432 c.370T>C c.(370-372)TAT>CAT p.Y124H NM_006010 NP_006001 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic 121 response to unfolded protein extracellular region growth factor activity 0 TGAGCTTAAGTATGGTGAGTA 0.458 DKK2 27123 broad.mit.edu 37 4 107847047 107847047 + Missense_Mutation SNP G T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr4:107847047G>T uc003hyi.2 - 2 987 c.282C>A c.(280-282)CAC>CAA p.H94Q DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 94 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ATGATCCTTGGTGGGGACTGT 0.502 DCHS2 54798 broad.mit.edu 37 4 155305544 155305544 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr4:155305544G>A uc003inw.2 - 2 210 c.210C>T c.(208-210)AAC>AAT p.N70N DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 70 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctggttttgcgttctcttcct 0.010 ODZ3 55714 broad.mit.edu 37 4 183713527 183713527 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr4:183713527C>T uc003ivd.1 + 25 5739 c.5702C>T c.(5701-5703)ACC>ATC p.T1901I NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1901 YD 7.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCTCGCCACACCATGCAGACC 0.547 GPR98 84059 broad.mit.edu 37 5 89969926 89969926 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr5:89969926G>A uc003kju.2 + 23 5081 c.4985G>A c.(4984-4986)CGT>CAT p.R1662H GPR98_uc003kjt.2_Translation_Start_Site|GPR98_uc010jba.1_RNA NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1662 Calx-beta 11.|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) GAGTATTTCCGTGTGACATTG 0.393 PCDHB9 56127 broad.mit.edu 37 5 140568233 140568233 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr5:140568233G>A uc003liw.1 + 3 1342 c.1342G>A c.(1342-1344)GCC>ACC p.A448T NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 448 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGACAACGCCCCCGCCTT 0.592 FAT2 2196 broad.mit.edu 37 5 150923883 150923883 + Missense_Mutation SNP G T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr5:150923883G>T uc003lue.3 - 9 6818 c.6805C>A c.(6805-6807)CCT>ACT p.P2269T GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2269 Cadherin 19.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGTGGGAGGGTTATCATTG 0.502 FAM71B 153745 broad.mit.edu 37 5 156592924 156592924 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr5:156592924C>T uc003lwn.2 - 1 356 c.256G>A c.(256-258)GTC>ATC p.V86I NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 86 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) AGAACCATGACGTCAGGCAGT 0.542 HLA-B 3106 broad.mit.edu 37 6 31322411 31322411 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr6:31322411C>T uc003nth.2 - 6 1098 c.1044G>A c.(1042-1044)GCG>GCA p.A348A HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.A227A|HLA-B_uc003nti.1_RNA NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 348 Cytoplasmic (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 ACCACTTACACGCAGCCTGAG 0.572 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of TRAM2 9697 broad.mit.edu 37 6 52370483 52370483 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr6:52370483G>A uc003paq.2 - 9 938 c.789C>T c.(787-789)GCC>GCT p.A263A EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA NM_012288 NP_036420 Q15035 TRAM2_HUMAN translocation-associated membrane protein 2 263 TLC.|Helical; (Potential). collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding 0 Lung NSC(77;0.109) TGGCCAGCACGGCAAGGGTGA 0.542 TCP10 6953 broad.mit.edu 37 6 167790118 167790118 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr6:167790118G>A uc003qvv.1 - 5 704 c.492C>T c.(490-492)CCC>CCT p.P164P TCP10_uc003qvu.2_Silent_p.P164P|TCP10_uc003qvw.2_Silent_p.P140P NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 191 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) GACGTCTCCCGGGAGGACTTT 0.493 NXPH1 30010 broad.mit.edu 37 7 8791118 8791118 + Missense_Mutation SNP G C C rs145299363 by1000genomes TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:8791118G>C uc003srv.2 + 3 1446 c.535G>C c.(535-537)GCA>CCA p.A179P NXPH1_uc011jxh.1_Missense_Mutation_p.A62P NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 179 IV (linker domain). extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) ATTTGACTTGGCACAACAAAC 0.398 THSD7A 221981 broad.mit.edu 37 7 11422186 11422186 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:11422186G>A uc003ssf.3 - 23 4721 c.4469C>T c.(4468-4470)ACA>ATA p.T1490I uc003ssb.2_Intron|THSD7A_uc003ssd.3_5'Flank NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1490 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACACCACACTGTTCGGGAAGA 0.418 HNSCC(18;0.044) DNAH11 8701 broad.mit.edu 37 7 21599234 21599234 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:21599234G>A uc003svc.2 + 4 737 c.706G>A c.(706-708)GAA>AAA p.E236K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 236 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACCGTCAAACGAAAGGATAAT 0.313 Kartagener_syndrome GRB10 2887 broad.mit.edu 37 7 50742172 50742172 + Missense_Mutation SNP C G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:50742172C>G uc003tpi.2 - 3 354 c.323G>C c.(322-324)AGG>ACG p.R108T GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T|GRB10_uc003tpn.2_Missense_Mutation_p.R50T NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 108 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) GCGCTGCACCCTCTGCCTCGG 0.657 Russell-Silver_syndrome PCLO 27445 broad.mit.edu 37 7 82763793 82763793 + Missense_Mutation SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:82763793T>C uc003uhx.2 - 3 3362 c.3073A>G c.(3073-3075)AAA>GAA p.K1025E PCLO_uc003uhv.2_Missense_Mutation_p.K1025E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 971 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGTGGCTTTTTTTCTGTTTCT 0.408 RELN 5649 broad.mit.edu 37 7 103270455 103270455 + Silent SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:103270455C>T uc003vca.2 - 20 2794 c.2634G>A c.(2632-2634)GAG>GAA p.E878E RELN_uc010liz.2_Silent_p.E878E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 878 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACTGAGTGACCTCCACAAGAT 0.408 TAS2R39 259285 broad.mit.edu 37 7 142881262 142881262 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:142881262G>A uc011ksw.1 + 1 751 c.751G>A c.(751-753)GAC>AAC p.D251N NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 251 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) AGGGTCCAACGACCCCAGCAT 0.498 OR2A5 393046 broad.mit.edu 37 7 143748162 143748162 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr7:143748162C>T uc011ktw.1 + 1 668 c.668C>T c.(667-669)GCG>GTG p.A223V NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) CGCATCCTGGCGGCCATCTTG 0.607 TEX15 56154 broad.mit.edu 37 8 30695500 30695500 + Missense_Mutation SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr8:30695500G>A uc003xil.2 - 3 7151 c.7151C>T c.(7150-7152)ACG>ATG p.T2384M NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2384 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTTTTTTGGCGTTAAATGATT 0.388 ADAM18 8749 broad.mit.edu 37 8 39502901 39502901 + Silent SNP T C C TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr8:39502901T>C uc003xni.2 + 11 954 c.954T>C c.(952-954)GCT>GCC p.A318A ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.A294A NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 318 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTATTATAGCTCAACTGCTTG 0.333 IL7 3574 broad.mit.edu 37 8 79710323 79710323 + Missense_Mutation SNP C T T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr8:79710323C>T uc003ybg.2 - 2 732 c.131G>A c.(130-132)AGC>AAC p.S44N IL7_uc003ybe.2_Missense_Mutation_p.S3N|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_Intron|IL7_uc003ybi.3_RNA NM_000880 NP_000871 P13232 IL7_HUMAN interleukin 7 precursor 44 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding 0 TTGATCGATGCTGACCATTAG 0.353 GPR20 2843 broad.mit.edu 37 8 142366995 142366995 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr8:142366995G>A uc003ywf.2 - 2 1118 c.1029C>T c.(1027-1029)GCC>GCT p.A343A NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 343 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CGTGAGGGCCGGCACTGAGGA 0.667 C9orf131 138724 broad.mit.edu 37 9 35045456 35045456 + Missense_Mutation SNP A G G TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr9:35045456A>G uc003zvw.2 + 2 2859 c.2830A>G c.(2830-2832)AAG>GAG p.K944E C9orf131_uc003zvu.2_Missense_Mutation_p.K896E|C9orf131_uc003zvv.2_Missense_Mutation_p.K871E|C9orf131_uc003zvx.2_Missense_Mutation_p.K909E NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 944 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCAGCCAAAAAGAGAGAGCA 0.532 COL15A1 1306 broad.mit.edu 37 9 101797331 101797331 + Silent SNP G A A TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chr9:101797331G>A uc004azb.1 + 18 2321 c.2115G>A c.(2113-2115)CCG>CCA p.P705P NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 705 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CTGGACCCCCGGGGAAAAAGG 0.612 EIF2S3 1968 broad.mit.edu 37 X 24094874 24094877 + Frame_Shift_Del DEL CAAT - - TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chrX:24094874_24094877delCAAT uc004dbc.2 + 12 1412_1415 c.1391_1394delCAAT c.(1390-1395)ACAATCfs p.T464fs NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 464_465 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 AGAGGAGTGACAATCAAGCCAACA 0.348 NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC - - TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx 06053a14-2d9a-4df0-a79b-81bda36bf3c3 461cc736-47e8-46bc-90ca-7f5f8f1411a2 g.chrX:72433664_72433666delTCC uc004ebi.2 - 1 1019_1021 c.663_665delGGA c.(661-666)GAGGAC>GAC p.E221del NAP1L2_uc011mqj.1_In_Frame_Del_p.E79del NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.330