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 TNFRSF8 943 broad.mit.edu 37 1 12170201 12170201 + Missense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:12170201T>A uc001atq.2 + 6 838 c.616T>A c.(616-618)TCT>ACT p.S206T TNFRSF8_uc010obc.1_Missense_Mutation_p.S95T NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 206 Extracellular (Potential).|TNFR-Cys 4. 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) GGAAGCTGCTTCTAAACTGAC 0.632 TAS1R2 80834 broad.mit.edu 37 1 19181287 19181287 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:19181287C>T uc001bba.1 - 3 678 c.677G>A c.(676-678)CGC>CAC p.R226H NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 226 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCGGGCCACGCGCTCGCCAAG 0.642 CNKSR1 10256 broad.mit.edu 37 1 26515154 26515154 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:26515154G>A uc001bln.3 + 19 1735 c.1677G>A c.(1675-1677)CAG>CAA p.Q559Q CNKSR1_uc001blm.3_Silent_p.Q552Q|CNKSR1_uc009vsd.2_Silent_p.Q294Q|CNKSR1_uc009vse.2_Silent_p.Q294Q|CNKSR1_uc001blo.2_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 559 Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCCCCACACAGCGCAGCCCAC 0.647 ZSWIM5 57643 broad.mit.edu 37 1 45553632 45553632 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:45553632G>A uc001cnd.2 - 2 1101 c.873C>T c.(871-873)CAC>CAT p.H291H NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 291 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) CTTCAGTGTGGTGTGCCGTGA 0.393 AK5 26289 broad.mit.edu 37 1 78001682 78001682 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:78001682C>T uc001dhn.2 + 13 1836 c.1579C>T c.(1579-1581)CCC>TCC p.P527S AK5_uc001dho.2_Missense_Mutation_p.P501S NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 527 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 AGCGTCCATCCCCGTGATCGC 0.527 MCOLN3 55283 broad.mit.edu 37 1 85498465 85498465 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:85498465C>T uc001dkp.2 - 6 739 c.646G>A c.(646-648)GTG>ATG p.V216M MCOLN3_uc001dkq.2_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.2_Missense_Mutation_p.V216M|MCOLN3_uc001dks.3_Missense_Mutation_p.V61M NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 216 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) TGAAGCTCCACTGTTAGGAGT 0.438 KIAA0907 22889 broad.mit.edu 37 1 155887399 155887399 + Missense_Mutation SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:155887399T>G uc001fmi.1 - 11 1355 c.1331A>C c.(1330-1332)CAG>CCG p.Q444P KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q301P|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 444 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggGCCAGC 0.443 INSRR 3645 broad.mit.edu 37 1 156811514 156811514 + Missense_Mutation SNP C T T rs139192917 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:156811514C>T uc010pht.1 - 20 3724 c.3470G>A c.(3469-3471)CGC>CAC p.R1157H NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1157 Cytoplasmic (Potential).|Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGCCATCCAGCGCACGGGCAG 0.627 CD1B 910 broad.mit.edu 37 1 158299678 158299678 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:158299678C>T uc001frx.2 - 3 679 c.571G>A c.(571-573)GTC>ATC p.V191I CD1B_uc001frw.2_Missense_Mutation_p.V84I NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 191 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) GCATTGAGGACGCCCAAGAGA 0.438 OR10R2 343406 broad.mit.edu 37 1 158449688 158449688 + Missense_Mutation SNP C G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:158449688C>G uc010pik.1 + 1 21 c.21C>G c.(19-21)TTC>TTG p.F7L uc001fso.1_Intron NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TTCTTATATTCACATACCTGA 0.279 LY9 4063 broad.mit.edu 37 1 160786529 160786529 + Silent SNP C G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:160786529C>G uc001fwu.2 + 5 1268 c.1218C>G c.(1216-1218)TCC>TCG p.S406S LY9_uc001fwv.2_Silent_p.S406S|LY9_uc001fww.2_Intron|LY9_uc001fwx.2_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Silent_p.S58S NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 406 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTGTTGTGTCCCAAGGGGAAT 0.557 CR2 1380 broad.mit.edu 37 1 207648560 207648560 + Missense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr1:207648560A>C uc001hfw.2 + 13 2632 c.2538A>C c.(2536-2538)AAA>AAC p.K846N CR2_uc001hfv.2_Missense_Mutation_p.K905N|CR2_uc009xch.2_Missense_Mutation_p.K846N NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 846 Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GTATCAAAAAAGGTAAGATAC 0.398 ATAD1 84896 broad.mit.edu 37 10 89550116 89550116 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr10:89550116G>A uc001key.1 - 3 616 c.333C>T c.(331-333)ATC>ATT p.I111I ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Silent_p.I111I NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 111 peroxisome ATP binding|nucleoside-triphosphatase activity large_intestine(1)|ovary(1) 2 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) GTTTCTTTTTGATAGGTAAGA 0.358 MGEA5 10724 broad.mit.edu 37 10 103557792 103557792 + Nonsense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr10:103557792A>C uc001ktv.2 - 10 2372 c.1929T>G c.(1927-1929)TAT>TAG p.Y643* MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643* NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 643 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TATCCCAAACATAGGAGTACA 0.418 LOC653544 653544 broad.mit.edu 37 10 135491125 135491125 + Missense_Mutation SNP G A A rs140402194 by1000genomes TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr10:135491125G>A uc010qvi.1 + 1 847 c.736G>A c.(736-738)GCG>ACG p.A246T NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 246 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCACACCGGCGCGTGGGGAAC 0.781 OR51B6 390058 broad.mit.edu 37 11 5373426 5373426 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:5373426G>A uc010qzb.1 + 1 689 c.689G>A c.(688-690)GGA>GAA p.G230E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTCTGGAGGAGAAAGGGCC 0.418 MICAL2 9645 broad.mit.edu 37 11 12225971 12225971 + Missense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:12225971G>T uc001mjz.2 + 4 727 c.439G>T c.(439-441)GGG>TGG p.G147W MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.2_Missense_Mutation_p.G147W|MICAL2_uc001mka.2_Missense_Mutation_p.G147W|MICAL2_uc010rci.1_Missense_Mutation_p.G147W|MICAL2_uc001mkb.2_Missense_Mutation_p.G147W|MICAL2_uc001mkc.2_Missense_Mutation_p.G147W NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 147 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GAAGTTCTATGGGAAGTTCTG 0.552 KCNC1 3746 broad.mit.edu 37 11 17757795 17757795 + Silent SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:17757795G>T uc001mnk.3 + 1 301 c.246G>T c.(244-246)GTG>GTT p.V82V KCNC1_uc009yhc.1_Silent_p.V82V NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 82 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 CAGCCGACGTGTGCGGGCCGC 0.677 UEVLD 55293 broad.mit.edu 37 11 18554017 18554017 + Silent SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:18554017A>G uc001mot.2 - 12 1346 c.1266T>C c.(1264-1266)AAT>AAC p.N422N UEVLD_uc001mou.2_3'UTR|UEVLD_uc010rde.1_Silent_p.N292N|UEVLD_uc010rdf.1_Silent_p.N400N|UEVLD_uc010rdg.1_Silent_p.N292N|UEVLD_uc001mov.2_3'UTR NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 422 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 ACACTTCACTATTTATATCAT 0.313 QSER1 79832 broad.mit.edu 37 11 32955067 32955067 + Missense_Mutation SNP C G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:32955067C>G uc001mty.2 + 4 2143 c.1876C>G c.(1876-1878)CTG>GTG p.L626V QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.2_Missense_Mutation_p.L131V NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 626 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TGGGGTTGCTCTGCAAGCATC 0.378 OR5A1 219982 broad.mit.edu 37 11 59211078 59211078 + Missense_Mutation SNP G T T rs143071629 byFrequency TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:59211078G>T uc001nnx.1 + 1 437 c.437G>T c.(436-438)CGC>CTC p.R146L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTCTGTACACGCATGGTGGTT 0.552 SF3B2 10992 broad.mit.edu 37 11 65836145 65836146 + Frame_Shift_Ins INS - A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:65836145_65836146insA uc001ogy.1 + 22 2657_2658 c.2617_2618insA c.(2617-2619)CAAfs p.Q873fs PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 873 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CCCTATACAGCAAAAAAAACGG 0.515 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ODZ4 26011 broad.mit.edu 37 11 78380644 78380644 + Missense_Mutation SNP C A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:78380644C>A uc001ozl.3 - 32 7209 c.6746G>T c.(6745-6747)GGT>GTT p.G2249V ODZ4_uc001ozk.3_Missense_Mutation_p.G474V|ODZ4_uc009yvb.1_Missense_Mutation_p.G833V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2249 Extracellular (Potential).|YD 20. signal transduction integral to membrane ovary(2)|pancreas(2) 4 TTGCACGTCACCCAGCCGAGT 0.562 APOA4 337 broad.mit.edu 37 11 116691955 116691955 + Silent SNP G A A rs146365840 byFrequency TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr11:116691955G>A uc001pps.1 - 3 923 c.819C>T c.(817-819)GAC>GAT p.D273D NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGCCACGCACGTCCTCGGCCA 0.672 AICDA 57379 broad.mit.edu 37 12 8757515 8757515 + Missense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr12:8757515T>A uc001qur.2 - 4 510 c.431A>T c.(430-432)TAT>TTT p.Y144F AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 144 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) GCAGTAAAAATAATCTTCAAA 0.428 Immune_Deficiency_with_Hyper-IgM TWF1 5756 broad.mit.edu 37 12 44200088 44200100 + Frame_Shift_Del DEL GCCAGCGGCCCCG - - TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr12:44200088_44200100delGCCAGCGGCCCCG uc001rob.2 - 1 79_91 c.51_63delCGGGGCCGCTGGC c.(49-63)GCCGGGGCCGCTGGCfs p.A17fs TWF1_uc001rnz.2_5'Flank|TWF1_uc001roa.2_Frame_Shift_Del_p.A17fs|TWF1_uc001roc.2_5'UTR NM_002822 NP_002813 Q12792 TWF1_HUMAN twinfilin 1 Error:Variant_position_missing_in_Q12792_after_alignment actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity stomach(1) 1 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) GCTGAGTGCAGCCAgcggccccggccggcggcc 0.540 ZBTB39 9880 broad.mit.edu 37 12 57398062 57398062 + Missense_Mutation SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr12:57398062T>G uc001sml.1 - 2 726 c.640A>C c.(640-642)ACC>CCC p.T214P RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GGAGCAGGGGTGTCATGGTCT 0.572 LRRIQ1 84125 broad.mit.edu 37 12 85450302 85450302 + Silent SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr12:85450302T>C uc001tac.2 + 8 1842 c.1731T>C c.(1729-1731)GAT>GAC p.D577D LRRIQ1_uc001tab.1_Silent_p.D577D|LRRIQ1_uc001taa.1_Silent_p.D552D NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 577 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TAATCAAAGATAATCAGCAGA 0.289 WSB2 55884 broad.mit.edu 37 12 118490112 118490113 + Splice_Site INS - A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr12:118490112_118490113insA uc001twr.2 - 2 280 c.182_splice c.e2+1 p.F61_splice WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGAGAATACTTACAACTGCTCC 0.550 ATP8A2 51761 broad.mit.edu 37 13 26411335 26411335 + Missense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:26411335T>A uc001uqk.2 + 29 2931 c.2789T>A c.(2788-2790)ATC>AAC p.I930N ATP8A2_uc010tdi.1_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 890 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTCTGGGAATCTTTGAGAGG 0.502 WASF3 10810 broad.mit.edu 37 13 27256966 27256967 + Frame_Shift_Ins INS - C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:27256966_27256967insC uc001uqv.2 + 9 1431_1432 c.1206_1207insC c.(1204-1209)CCTCCCfs p.P402fs WASF3_uc001uqw.2_Frame_Shift_Ins_p.P399fs NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 402_403 Poly-Pro. actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCCCACCACCTCCCCCGCCAGG 0.708 FLT1 2321 broad.mit.edu 37 13 28880897 28880897 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:28880897C>T uc001usb.3 - 29 4018 c.3733G>A c.(3733-3735)GAC>AAC p.D1245N FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1245 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGCTGCTGTCGCCCTGGTAG 0.552 FLT1 2321 broad.mit.edu 37 13 29004213 29004213 + Silent SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:29004213C>T uc001usb.3 - 8 1365 c.1080G>A c.(1078-1080)AAG>AAA p.K360K FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 360 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGGGAAATGCCTTCACTTTCA 0.443 DOCK9 23348 broad.mit.edu 37 13 99549805 99549805 + Missense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:99549805T>A uc001vnt.2 - 15 1704 c.1649A>T c.(1648-1650)TAC>TTC p.Y550F DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 550 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTCTTGCCTGTAGATGGCAGA 0.383 COL4A2 1284 broad.mit.edu 37 13 111132630 111132630 + Missense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr13:111132630G>T uc001vqx.2 + 31 2940 c.2651G>T c.(2650-2652)GGT>GTT p.G884V NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 884 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGCATGAAAGGTCTCTCTGGT 0.582 ZFYVE26 23503 broad.mit.edu 37 14 68247033 68247033 + Nonsense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr14:68247033C>T uc001xka.2 - 23 4738 c.4599G>A c.(4597-4599)TGG>TGA p.W1533* ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.W1533* NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1533 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCCAGTCACACCACACTGGGG 0.502 NDUFB1 4707 broad.mit.edu 37 14 92588104 92588104 + Missense_Mutation SNP G C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr14:92588104G>C uc001yaf.2 - 1 50 c.18C>G c.(16-18)CAC>CAG p.H6Q NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank NM_004545 NP_004536 O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 14 Helical; (Potential). mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) NADH(DB00157) GAGCAGAGGGGTGACGCCAGC 0.517 SERPINA1 5265 broad.mit.edu 37 14 94849084 94849084 + Nonsense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr14:94849084G>T uc001ycx.3 - 2 752 c.491C>A c.(490-492)TCA>TAA p.S164* SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.2_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.2_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.2_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.2_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.2_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164* NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 164 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GAAGGCTTCTGAGTGGTACAA 0.502 Alpha-1-Antitrypsin_Deficiency LCMT2 9836 broad.mit.edu 37 15 43622424 43622425 + Frame_Shift_Del DEL GA - - TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr15:43622424_43622425delGA uc001zrg.2 - 1 467_468 c.263_264delTC c.(262-264)CTCfs p.L88fs LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 88 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AGCCAGCGCCGAGAGACAAGAT 0.668 UNC13C 440279 broad.mit.edu 37 15 54624283 54624283 + Missense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr15:54624283T>A uc002ack.2 + 13 4468 c.4468T>A c.(4468-4470)TTG>ATG p.L1490M UNC13C_uc002acl.2_Missense_Mutation_p.L320M NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1490 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACATAACTCTTTGAGGATTGA 0.313 MCTP2 55784 broad.mit.edu 37 15 94899492 94899492 + Missense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr15:94899492G>T uc002btj.2 + 8 1197 c.1132G>T c.(1132-1134)GTC>TTC p.V378F MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.2_Missense_Mutation_p.V107F|MCTP2_uc010bok.2_Missense_Mutation_p.V378F|MCTP2_uc002btk.3_5'UTR|MCTP2_uc002btl.2_5'UTR NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 378 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGAGATGTTTGTCCAGTTAAA 0.348 CLEC16A 23274 broad.mit.edu 37 16 11118694 11118694 + Missense_Mutation SNP G C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr16:11118694G>C uc002dao.2 + 13 1683 c.1453G>C c.(1453-1455)GTG>CTG p.V485L CLEC16A_uc002dan.3_Missense_Mutation_p.V467L NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 485 p.0?(1) ovary(1)|central_nervous_system(1) 2 CCTGGATATGGTGTACCACGC 0.547 Unknown 0 broad.mit.edu 37 16 15023280 15023280 + Splice_Site SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr16:15023280T>C uc010uzk.1 + 6 1123 c.847_splice c.e6+2 p.G283_splice NPIP_uc002dcx.3_Splice_Site SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1; CGCTGGCGGGTGAGGAGATCG 0.701 CHST4 10164 broad.mit.edu 37 16 71570968 71570968 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr16:71570968C>T uc002fan.2 + 2 569 c.388C>T c.(388-390)CGG>TGG p.R130W CHST4_uc002fao.2_Missense_Mutation_p.R130W NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 130 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 GGAGAACAGCCGGGCCCTGTG 0.572 ZCCHC14 23174 broad.mit.edu 37 16 87448975 87448975 + Splice_Site SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr16:87448975T>G uc002fjz.1 - 9 1000 c.973_splice c.e9-1 p.F325_splice ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.2_Splice_Site_p.F101_splice NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCTCAAAAACTTTCACAGAAA 0.398 ALOX15 246 broad.mit.edu 37 17 4542381 4542381 + Silent SNP C G G rs146477215 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr17:4542381C>G uc002fyh.2 - 3 398 c.384G>C c.(382-384)CGG>CGC p.R128R ALOX15_uc010vsd.1_Silent_p.R89R|ALOX15_uc010vse.1_Silent_p.R150R NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 128 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.R128R(1) skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GCTCTTCTTCCCGGTGTTTCT 0.577 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr17:4619828A>C uc002fyj.2 + 5 510 c.282A>C c.(280-282)CCA>CCC p.P94P ARRB2_uc002fyk.2_Silent_p.P79P|ARRB2_uc002fyl.2_Silent_p.P94P|ARRB2_uc010vsg.1_Silent_p.P94P|ARRB2_uc002fym.2_Silent_p.P79P|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'Flank NM_004313 NP_004304 P32121 ARRB2_HUMAN arrestin, beta 2 isoform 1 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding 0 TGCCCAACCCACCCCGGCCCC 0.667 CD300A 11314 broad.mit.edu 37 17 72469708 72469709 + Frame_Shift_Ins INS - G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr17:72469708_72469709insG uc002jkv.2 + 2 395_396 c.74_75insG c.(73-75)GCGfs p.A25fs CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 25 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 AGGACCGTGGCGGGCCCCGTGG 0.569 DAPK3 1613 broad.mit.edu 37 19 3961153 3961153 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:3961153G>A uc002lzc.1 - 6 729 c.636C>T c.(634-636)AGC>AGT p.S212S DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 212 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GGGATGCACCGCTCAGGCTGC 0.662 TSPAN16 26526 broad.mit.edu 37 19 11411902 11411902 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:11411902C>T uc002mqv.1 + 4 518 c.368C>T c.(367-369)ACC>ATC p.T123I TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA NM_012466 NP_036598 Q9UKR8 TSN16_HUMAN transmembrane 4 superfamily member 16 123 Cytoplasmic (Potential). integral to membrane skin(1) 1 TTGGAACACACCTTCGTGACC 0.498 CYP4F12 66002 broad.mit.edu 37 19 15791069 15791069 + Missense_Mutation SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:15791069A>G uc002nbl.2 + 4 420 c.359A>G c.(358-360)AAG>AGG p.K120R CYP4F12_uc010xoo.1_Missense_Mutation_p.K120R|CYP4F12_uc010xop.1_Missense_Mutation_p.K120R NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) ATTGCACCCAAGGATAATCTC 0.562 NDUFA13 51079 broad.mit.edu 37 19 19638108 19638108 + Silent SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:19638108C>T uc010xqy.1 + 3 700 c.441C>T c.(439-441)GAC>GAT p.D147D NDUFA13_uc002nms.2_Silent_p.D147D|NDUFA13_uc010xqx.1_Silent_p.D147D|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 64 apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) AAATCGAGGACTTCGAGGCTC 0.592 ZNF536 9745 broad.mit.edu 37 19 30934639 30934639 + Missense_Mutation SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:30934639A>G uc002nsu.1 + 2 308 c.170A>G c.(169-171)GAG>GGG p.E57G ZNF536_uc010edd.1_Missense_Mutation_p.E57G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCCAACCCCGAGGAGAAGCCC 0.677 HNRNPL 3191 broad.mit.edu 37 19 39330868 39330868 + Silent SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:39330868T>G uc010xul.1 - 8 1112 c.1101A>C c.(1099-1101)CCA>CCC p.P367P HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 367 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGGGAGGGGGTGGGGGGTGCC 0.642 POU2F2 5452 broad.mit.edu 37 19 42596347 42596347 + Missense_Mutation SNP G C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:42596347G>C uc002osp.2 - 13 1341 c.1274C>G c.(1273-1275)GCT>GGT p.A425G POU2F2_uc002osn.2_Missense_Mutation_p.A409G|POU2F2_uc002oso.2_Missense_Mutation_p.A198G|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.A425G NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 425 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) ggggggcgcagccccgccccc 0.532 GPR4 2828 broad.mit.edu 37 19 46094672 46094672 + Silent SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:46094672C>T uc002pcm.2 - 2 1398 c.453G>A c.(451-453)GCG>GCA p.A151A OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 151 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GGAACAGGGGCGCCGAGTTGG 0.657 MYPOP 339344 broad.mit.edu 37 19 46393971 46393971 + Silent SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:46393971T>G uc002pdt.2 - 3 1197 c.1110A>C c.(1108-1110)CCA>CCC p.P370P NM_001012643 NP_001012661 Q86VE0 MYPOP_HUMAN Myb protein P42POP 370 Pro-rich. nucleus DNA binding 0 GGAGCGGGGCTGGGGGGGGCC 0.657 ZNF814 730051 broad.mit.edu 37 19 58385050 58385050 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr19:58385050G>A uc002qqo.2 - 3 1980 c.1708C>T c.(1708-1710)CAC>TAC p.H570Y ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 570 C2H2-type 13. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TCTCTAGGGTGAACTCGCTGA 0.468 DCTN1 1639 broad.mit.edu 37 2 74592698 74592698 + Silent SNP G A A rs140969689 by1000genomes TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:74592698G>A uc002skx.2 - 25 3284 c.2973C>T c.(2971-2973)ATC>ATT p.I991I SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Silent_p.I857I|DCTN1_uc002sku.2_Silent_p.I857I|DCTN1_uc002skw.1_Silent_p.I967I|DCTN1_uc010ffd.2_Silent_p.I971I|DCTN1_uc002sky.2_Silent_p.I954I NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 991 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GGACTTTCTCGATGCGCTCAT 0.577 PSD4 23550 broad.mit.edu 37 2 113940791 113940791 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:113940791C>T uc002tjc.2 + 2 941 c.758C>T c.(757-759)GCG>GTG p.A253V PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A252V|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 253 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTCTTCCTGGCGAGTCCTTGC 0.602 SCN9A 6335 broad.mit.edu 37 2 167056293 167056293 + Missense_Mutation SNP C T T rs142201175 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:167056293C>T uc010fpl.2 - 27 5164 c.4823G>A c.(4822-4824)CGA>CAA p.R1608Q uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1619 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1608Q(1) ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ACGTAGGATTCGGCCAATCCT 0.483 FRZB 2487 broad.mit.edu 37 2 183703198 183703198 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:183703198G>A uc002upa.1 - 4 954 c.736C>T c.(736-738)CCT>TCT p.P246S NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 246 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) TTAAGTGGAGGGCAGAGGCAG 0.438 COL5A2 1290 broad.mit.edu 37 2 189927922 189927923 + Frame_Shift_Ins INS - C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:189927922_189927923insC uc002uqk.2 - 27 2119_2120 c.1844_1845insG c.(1843-1845)GGCfs p.G615fs COL5A2_uc010frx.2_Frame_Shift_Ins_p.G191fs NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 615 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGCCTGGAAGGCCCATGCTCCC 0.520 IRS1 3667 broad.mit.edu 37 2 227659846 227659846 + Silent SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:227659846T>G uc002voh.3 - 1 3661 c.3609A>C c.(3607-3609)CCA>CCC p.P1203P NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 1203 Pro-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGGTGGGGGTGGGGGAGGCT 0.582 ECEL1 9427 broad.mit.edu 37 2 233346218 233346218 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr2:233346218G>A uc002vsv.2 - 14 2192 c.1987C>T c.(1987-1989)CGG>TGG p.R663W ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 663 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGTCTCACCCGCTGGTTGTAG 0.622 SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G - - rs138961929 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr20:4850569delG uc002wlg.1 - 12 1608 c.1233delC c.(1231-1233)CCCfs p.P411fs SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.2_Frame_Shift_Del_p.P410fs NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 TTGCGTGGATGGGGGGGGGTG 0.527 SRMS 6725 broad.mit.edu 37 20 62172863 62172863 + Missense_Mutation SNP C T T rs61740255 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr20:62172863C>T uc002yfi.1 - 6 1098 c.1057G>A c.(1057-1059)GCC>ACC p.A353T NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 353 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) ACGTTCCGGGCGGCCAAGTCC 0.706 ZNRF3 84133 broad.mit.edu 37 22 29440867 29440867 + Nonsense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr22:29440867C>T uc003aeg.2 + 5 598 c.433C>T c.(433-435)CGA>TGA p.R145* ZNRF3_uc003aeh.1_Nonsense_Mutation_p.R145* NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 245 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GCTGAAGCAGCGACGCAGTCA 0.512 SF3A1 10291 broad.mit.edu 37 22 30736312 30736312 + Silent SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr22:30736312A>C uc003ahl.2 - 9 1380 c.1248T>G c.(1246-1248)ACT>ACG p.T416T NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 416 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 TCTTCTCCCCAGTAATGGGGG 0.557 GCAT 23464 broad.mit.edu 37 22 38211771 38211771 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr22:38211771G>A uc003atz.2 + 7 936 c.916G>A c.(916-918)GCC>ACC p.A306T GCAT_uc003aua.1_Missense_Mutation_p.A332T NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 306 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CGTTGGCTGCGCCTCCAAGGC 0.657 OXSR1 9943 broad.mit.edu 37 3 38278405 38278405 + Missense_Mutation SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:38278405T>C uc003chy.2 + 11 1369 c.1027T>C c.(1027-1029)TTT>CTT p.F343L OXSR1_uc010hhb.2_Missense_Mutation_p.F277L NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 343 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGATGATGAATTTGATGAAGA 0.423 PRSS50 29122 broad.mit.edu 37 3 46759087 46759087 + Silent SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:46759087A>C uc003cqe.1 - 2 206 c.147T>G c.(145-147)ACT>ACG p.T49T PRSS50_uc003cqf.1_Intron NM_013270 NP_037402 Q9UI38 TSP50_HUMAN testes-specific protease 50 precursor 49 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity 0 CGGGATCAGCAGTGGACAGCG 0.706 CNTN3 5067 broad.mit.edu 37 3 74420493 74420493 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:74420493C>T uc003dpm.1 - 5 592 c.512G>A c.(511-513)CGG>CAG p.R171Q NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 171 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACAAATCTCCGACTATCTTC 0.403 OR5H6 79295 broad.mit.edu 37 3 97983841 97983841 + Missense_Mutation SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:97983841T>C uc003dsi.1 + 1 713 c.713T>C c.(712-714)CTC>CCC p.L238P NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 ACAATTATCCTCTTTACAATC 0.353 CCDC54 84692 broad.mit.edu 37 3 107096949 107096949 + Missense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:107096949A>C uc003dwi.1 + 1 762 c.515A>C c.(514-516)AAA>ACA p.K172T NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 172 0 CTGCTTTACAAACTCATACAA 0.433 ATR 545 broad.mit.edu 37 3 142234329 142234329 + Missense_Mutation SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:142234329A>G uc003eux.3 - 25 4533 c.4411T>C c.(4411-4413)TGG>CGG p.W1471R NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1471 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 ACTCCAGACCAATCGGTTGAC 0.318 Other_conserved_DNA_damage_response_genes LEKR1 389170 broad.mit.edu 37 3 156710933 156710933 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:156710933G>A uc003fba.1 + 10 1399 c.64G>A c.(64-66)GAA>AAA p.E22K NM_001004316 NP_001004316 Q6ZMV7 LEKR1_HUMAN leucine, glutamate and lysine rich 1 42 0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCATTACAGGAAGAGCTGAC 0.348 PIK3CA 5290 broad.mit.edu 37 3 178916614 178916614 + Missense_Mutation SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:178916614A>G uc003fjk.2 + 2 158 c.1A>G c.(1-3)ATG>GTG p.M1V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATCAGAACAATGCCTCCACG 0.378 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:184104344T>G uc003fov.2 + 16 2243 c.1997T>G c.(1996-1998)GTG>GGG p.V666G CHRD_uc003fow.2_Missense_Mutation_p.V296G|CHRD_uc003fox.2_Missense_Mutation_p.V666G|CHRD_uc003foy.2_Missense_Mutation_p.V296G|CHRD_uc010hyc.2_Missense_Mutation_p.V256G|CHRD_uc011brr.1_Intron NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726 TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr3:195595228_195595229insG uc003fvu.1 - 12 2438_2439 c.1895_1896insC c.(1894-1896)CCGfs p.P632fs TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 632 Required for interaction with SRC.|Required for interaction with NEDD4 (By similarity).|Pro-rich. 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) CATAGGCGGGCGGGGGGGGCAG 0.728 FGFRL1 53834 broad.mit.edu 37 4 1018839 1018839 + Missense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:1018839A>C uc003gce.2 + 7 1380 c.1219A>C c.(1219-1221)ACC>CCC p.T407P FGFRL1_uc003gcf.2_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.2_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.2_Missense_Mutation_p.T407P NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 407 Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GAAGCCGTGCACCCCCGCGCC 0.731 DRD5 1816 broad.mit.edu 37 4 9784657 9784657 + Missense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:9784657G>T uc003gmb.3 + 1 1400 c.1004G>T c.(1003-1005)TGC>TTC p.C335F NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 335 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGCTTCCCCTGCGTCAGTGAG 0.587 NKX3-2 579 broad.mit.edu 37 4 13543971 13543971 + Silent SNP C G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:13543971C>G uc003gmx.2 - 2 724 c.648G>C c.(646-648)GCG>GCC p.A216A NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 216 Homeobox. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGAAGACCTGCGCGTGGGAGA 0.502 NKX3-2 579 broad.mit.edu 37 4 13543978 13543978 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:13543978G>A uc003gmx.2 - 2 717 c.641C>T c.(640-642)TCC>TTC p.S214F NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 214 Homeobox. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCGCGTGGGAGAAAGCGGC 0.478 KLF3 51274 broad.mit.edu 37 4 38698729 38698729 + Nonsense_Mutation SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:38698729G>T uc003gth.3 + 6 1215 c.883G>T c.(883-885)GAA>TAA p.E295* NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 295 C2H2-type 2. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 ATGTACATGGGAAGGGTGCAC 0.403 TLL1 7092 broad.mit.edu 37 4 166978363 166978363 + Missense_Mutation SNP G A A rs141877254 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr4:166978363G>A uc003irh.1 + 14 2395 c.1748G>A c.(1747-1749)CGT>CAT p.R583H TLL1_uc011cjn.1_Missense_Mutation_p.R606H|TLL1_uc011cjo.1_Missense_Mutation_p.R407H NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 583 EGF-like 1; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AAACCTGACCGTGGAGGCTGT 0.438 GPR98 84059 broad.mit.edu 37 5 89910651 89910651 + Splice_Site SNP G T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr5:89910651G>T uc003kju.2 + 2 119 c.23_splice c.e2-1 p.G8_splice GPR98_uc003kjt.2_Splice_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 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) TTTTGTTTTAGGGATGCCCTC 0.274 SLCO6A1 133482 broad.mit.edu 37 5 101724473 101724473 + Missense_Mutation SNP G A A rs140805258 byFrequency TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr5:101724473G>A uc003knn.2 - 12 2108 c.1936C>T c.(1936-1938)CGG>TGG p.R646W SLCO6A1_uc003kno.2_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.2_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.2_Missense_Mutation_p.R584W NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 646 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTAACATCCCGTAAAATACAA 0.313 MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - GCC GCC TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr5:112824048_112824049insGCC uc003kql.3 - 1 479_480 c.63_64insGGC c.(61-66)insGGC p.21_22insG NM_001085377 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.391 CD14 929 broad.mit.edu 37 5 140011717 140011717 + Silent SNP C T T rs150900616 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr5:140011717C>T uc003lgi.1 - 2 1206 c.852G>A c.(850-852)TCG>TCA p.S284S CD14_uc003lgj.1_Silent_p.S284S NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 284 LRR 9. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAGCGAACGACAGATTGA 0.617 WWC1 23286 broad.mit.edu 37 5 167880985 167880985 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr5:167880985G>A uc003lzu.2 + 18 2631 c.2538G>A c.(2536-2538)GAG>GAA p.E846E WWC1_uc003lzv.2_Silent_p.E846E|WWC1_uc011den.1_Silent_p.E846E|WWC1_uc003lzw.2_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 846 Glu-rich.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGTATGAGGAGACCAGTGAGA 0.403 FLOT1 10211 broad.mit.edu 37 6 30697825 30697826 + Frame_Shift_Del DEL TT - - rs113030936 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:30697825_30697826delTT uc003nrm.2 - 12 1391_1392 c.1227_1228delAA c.(1225-1230)GAAAGAfs p.E409fs FLOT1_uc011dmr.1_Frame_Shift_Del_p.E361fs NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 409_410 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 CCTGTGAGTCTTTCCACACTCT 0.530 STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:31939829_31939830insA uc003nyv.2 + 1 184_185 c.56_57insA c.(55-57)GCAfs p.A19fs DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 CAGTGGCGGGCAAACCCCTCCC 0.634 LGSN 51557 broad.mit.edu 37 6 63990164 63990164 + Missense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:63990164A>C uc003peh.2 - 4 1326 c.1292T>G c.(1291-1293)CTT>CGT p.L431R LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 431 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) ACTGCTATGAAGTCCATCTAA 0.478 FILIP1 27145 broad.mit.edu 37 6 76024397 76024397 + Missense_Mutation SNP C T T rs147080592 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:76024397C>T uc003pia.2 - 5 1524 c.1151G>A c.(1150-1152)CGA>CAA p.R384Q FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.2_Missense_Mutation_p.R285Q|FILIP1_uc010kbe.2_Missense_Mutation_p.R387Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 384 Potential. p.R384Q(1) skin(3)|ovary(1) 4 CACACGCTTTCGAAGATTTTC 0.418 CASP8AP2 9994 broad.mit.edu 37 6 90577200 90577200 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:90577200G>A uc003pnr.2 + 8 4387 c.4191G>A c.(4189-4191)CCG>CCA p.P1397P CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.P1397P|CASP8AP2_uc011dzz.1_Silent_p.P1397P NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1397 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTTCATTGCCGGTTCATCCTG 0.393 SYNE1 23345 broad.mit.edu 37 6 152461140 152461140 + Missense_Mutation SNP C T T rs143049227 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:152461140C>T uc010kiw.2 - 140 26005 c.25403G>A c.(25402-25404)CGT>CAT p.R8468H SYNE1_uc010kiv.2_Missense_Mutation_p.R2992H|SYNE1_uc003qos.3_Missense_Mutation_p.R2992H|SYNE1_uc003qot.3_Missense_Mutation_p.R8420H|SYNE1_uc003qou.3_Missense_Mutation_p.R8468H|SYNE1_uc003qop.3_Missense_Mutation_p.R653H|SYNE1_uc011eez.1_Missense_Mutation_p.R670H|SYNE1_uc003qoq.3_Missense_Mutation_p.R670H|SYNE1_uc003qor.3_Missense_Mutation_p.R1391H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8468 Cytoplasmic (Potential).|Spectrin 31. R -> H (in a colorectal cancer sample; somatic mutation). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.R8468H(1) central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGTTCCAGACGCTGGAGCTG 0.557 HNSCC(10;0.0054) FNDC1 84624 broad.mit.edu 37 6 159653439 159653439 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr6:159653439G>A uc010kjv.2 + 11 2095 c.1895G>A c.(1894-1896)CGT>CAT p.R632H FNDC1_uc010kjw.1_Missense_Mutation_p.R517H NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 632 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACCTCTCATCGTCCTTCCCTG 0.682 GPNMB 10457 broad.mit.edu 37 7 23309680 23309680 + Silent SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:23309680C>T uc003swc.2 + 9 1512 c.1351C>T c.(1351-1353)CTG>TTG p.L451L GPNMB_uc003swb.2_Silent_p.L439L|GPNMB_uc011jyy.1_Silent_p.L393L|GPNMB_uc011jyz.1_Silent_p.L340L NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 451 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TGAGATGTGTCTGCTGACTGT 0.557 FAM188B 84182 broad.mit.edu 37 7 30890151 30890151 + Silent SNP A G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:30890151A>G uc003tbt.2 + 10 1604 c.1527A>G c.(1525-1527)CGA>CGG p.R509R FAM188B_uc010kwe.2_Silent_p.R480R|AQP1_uc011kac.1_5'Flank NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 509 0 CAGGGGGCCGAGAGAGAGCCG 0.622 HECW1 23072 broad.mit.edu 37 7 43360338 43360338 + Missense_Mutation SNP G C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:43360338G>C uc003tid.1 + 5 1062 c.457G>C c.(457-459)GAA>CAA p.E153Q HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 153 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GTACTTTGTGGAACGTGAGTA 0.458 MUC17 140453 broad.mit.edu 37 7 100687031 100687031 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:100687031G>A uc003uxp.1 + 3 12387 c.12334G>A c.(12334-12336)GCT>ACT p.A4112T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4112 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GACCACCACCGCTGTCCCCAC 0.498 CDHR3 222256 broad.mit.edu 37 7 105660912 105660912 + Frame_Shift_Del DEL A - - TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:105660912delA uc003vdl.3 + 13 1855 c.1747delA c.(1747-1749)ACAfs p.T583fs CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.1_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 583 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GAAAGTTGGCACAAATATTCA 0.428 PPP1R3A 5506 broad.mit.edu 37 7 113558442 113558442 + Nonsense_Mutation SNP T A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:113558442T>A uc010ljy.1 - 1 641 c.610A>T c.(610-612)AAA>TAA p.K204* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 204 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AACTCAACTTTACTGCCATCT 0.318 BRAF 673 broad.mit.edu 37 7 140453141 140453141 + Silent SNP A T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr7:140453141A>T uc003vwc.3 - 15 1855 c.1794T>A c.(1792-1794)GCT>GCA p.A598A NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 598 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.A598_T599insV(6)|p.A598V(3)|p.D594_T599del(1)|p.A598T(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) ATTTCACTGTAGCTAGACCAA 0.368 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome CSMD1 64478 broad.mit.edu 37 8 2832079 2832079 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:2832079G>A uc011kwk.1 - 56 9027 c.8637C>T c.(8635-8637)GGC>GGT p.G2879G CSMD1_uc011kwj.1_Silent_p.G2208G|CSMD1_uc010lrg.2_Silent_p.G889G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2879 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCACGACGGCGCCATAGGTAA 0.557 USP17L2 377630 broad.mit.edu 37 8 11995987 11995987 + Silent SNP G A A rs3988861 TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:11995987G>A uc003wvc.1 - 1 283 c.283C>T c.(283-285)CTG>TTG p.L95L FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 95 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.L95L(1) skin(2)|upper_aerodigestive_tract(1) 3 AGGCACTGCAGGGAAGCGTTC 0.567 SLC7A2 6542 broad.mit.edu 37 8 17422587 17422587 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:17422587G>A uc011kyc.1 + 12 2078 c.1909G>A c.(1909-1911)GCA>ACA p.A637T SLC7A2_uc011kyd.1_Missense_Mutation_p.A676T|SLC7A2_uc011kye.1_Missense_Mutation_p.A677T|SLC7A2_uc011kyf.1_Missense_Mutation_p.A637T NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 637 Cytoplasmic (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TGCCATTCAAGCAAATGACCA 0.423 DOK2 9046 broad.mit.edu 37 8 21771096 21771096 + Missense_Mutation SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:21771096A>C uc003wzy.1 - 1 110 c.17T>G c.(16-18)GTG>GGG p.V6G DOK2_uc003wzx.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 6 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCCTTGTTTCACTGCCCCGTC 0.582 ELP3 55140 broad.mit.edu 37 8 27954764 27954764 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:27954764G>A uc003xgo.3 + 2 196 c.48G>A c.(46-48)ATG>ATA p.M16I ELP3_uc003xgn.3_Missense_Mutation_p.M1I|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 16 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AGCTGATGATGCTGACTATAG 0.368 PCMTD1 115294 broad.mit.edu 37 8 52733124 52733124 + Silent SNP A C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:52733124A>C uc003xqx.3 - 6 1202 c.861T>G c.(859-861)ACT>ACG p.T287T PCMTD1_uc011ldm.1_Silent_p.T157T|PCMTD1_uc003xqw.3_Silent_p.T287T|PCMTD1_uc011ldn.1_Silent_p.T99T|PCMTD1_uc010lya.2_Silent_p.T211T NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 287 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) CAAATACGTAAGTGTTAATTC 0.303 REXO1L1 254958 broad.mit.edu 37 8 86573777 86573777 + Silent SNP C A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:86573777C>A uc011lfw.1 - 1 1492 c.1446G>T c.(1444-1446)GTG>GTT p.V482V NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 650 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 CCTTCCACATCACCAGCTGCA 0.672 ANGPT1 284 broad.mit.edu 37 8 108276567 108276567 + Silent SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr8:108276567T>C uc003ymn.2 - 8 1686 c.1218A>G c.(1216-1218)AAA>AAG p.K406K ANGPT1_uc011lhv.1_Silent_p.K206K|ANGPT1_uc003ymo.2_Silent_p.K405K NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 406 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CAGTGTGACCTTTTAAATACA 0.393 MAMDC2 256691 broad.mit.edu 37 9 72755159 72755159 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chr9:72755159G>A uc004ahm.2 + 8 1710 c.1093G>A c.(1093-1095)GTA>ATA p.V365I MAMDC2_uc004ahn.2_RNA NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 365 MAM 3. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 CCGAGTGAAAGTAAAACCAAA 0.458 NXF3 56000 broad.mit.edu 37 X 102339283 102339283 + Missense_Mutation SNP C G G TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:102339283C>G uc004eju.2 - 3 409 c.338G>C c.(337-339)TGG>TCG p.W113S NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 113 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GATCTTGAACCAGCTCCCTAA 0.463 WDR44 54521 broad.mit.edu 37 X 117527112 117527112 + Missense_Mutation SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:117527112G>A uc004eqn.2 + 4 1129 c.704G>A c.(703-705)CGC>CAC p.R235H WDR44_uc004eqo.2_Missense_Mutation_p.R235H|WDR44_uc011mtr.1_Missense_Mutation_p.R210H|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 235 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 GTTCCAGCACGCCCACCTCCT 0.522 STAG2 10735 broad.mit.edu 37 X 123176497 123176497 + Splice_Site SNP T C C TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:123176497T>C uc004etz.3 + 6 801 c.462_splice c.e6+2 p.E154_splice STAG2_uc004eua.2_Splice_Site_p.E154_splice|STAG2_uc004eub.2_Splice_Site_p.E154_splice|STAG2_uc004euc.2_Splice_Site_p.E154_splice|STAG2_uc004eud.2_Splice_Site_p.E154_splice|STAG2_uc004eue.2_Splice_Site_p.E154_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TTCGATGAGGTAACTTACTAC 0.274 GPC4 2239 broad.mit.edu 37 X 132458560 132458560 + Silent SNP G A A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:132458560G>A uc004exc.1 - 3 536 c.324C>T c.(322-324)TTC>TTT p.F108F GPC4_uc011mvg.1_Silent_p.F38F NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 108 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) GTTCTTTGAAGAATTCTGAAA 0.284 SPANXC 64663 broad.mit.edu 37 X 140335819 140335820 + Frame_Shift_Ins INS - T T rs57835830 byFrequency TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:140335819_140335820insT uc004fbk.2 - 2 180_181 c.124_125insA c.(124-126)ATGfs p.M42fs SPANXC_uc004fbl.2_RNA NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 42 Nuclear localization signal (Potential). cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) AGATGTTTTCATTTTTTTAGGA 0.500 Unknown 0 broad.mit.edu 37 X 155254706 155254706 + Missense_Mutation SNP C T T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8 b8bd0920-2514-4261-a8fc-0130a4fd6970 g.chrX:155254706C>T uc004fnx.3 + 8 1056 c.602C>T c.(601-603)ACG>ATG p.T201M NM_182905 NP_878908 WAS protein family homolog 1 GTGAGAGCCACGAGCCAAGGT 0.637