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 PTCHD2 57540 broad.mit.edu 37 1 11562051 11562051 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:11562051G>A uc001ash.3 + 2 1140 c.1002G>A c.(1000-1002)TCG>TCA p.S334S PTCHD2_uc001asi.1_Silent_p.S334S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 334 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTACTGCTCGCCCCCCAGCT 0.627 LRRC8B 23507 broad.mit.edu 37 1 90048973 90048973 + Missense_Mutation SNP A G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:90048973A>G uc001dni.2 + 7 1271 c.764A>G c.(763-765)TAT>TGT p.Y255C LRRC8B_uc001dnh.2_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.2_Missense_Mutation_p.Y255C NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 255 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GACATCATTTATAGAGTATAT 0.383 GPR61 83873 broad.mit.edu 37 1 110086040 110086040 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:110086040G>A uc001dxy.2 + 2 1079 c.396G>A c.(394-396)TCG>TCA p.S132S NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 132 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCATCCTCTCGGTGTCAGCCA 0.607 TTF2 8458 broad.mit.edu 37 1 117618058 117618058 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:117618058G>A uc001egy.2 + 5 872 c.852G>A c.(850-852)GAG>GAA p.E284E TTF2_uc001egx.1_Silent_p.E284E NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 284 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TCAACAAGGAGTACACGAACT 0.522 FLG 2312 broad.mit.edu 37 1 152283519 152283519 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:152283519G>A uc001ezu.1 - 3 3879 c.3843C>T c.(3841-3843)GAC>GAT p.D1281D uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1281 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCGGAGTCGTCTGAGTGTC 0.383 Ichthyosis HMCN1 83872 broad.mit.edu 37 1 186050515 186050515 + Nonsense_Mutation SNP C T T rs142475663 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:186050515C>T uc001grq.1 + 56 9005 c.8776C>T c.(8776-8778)CGA>TGA p.R2926* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2926 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATCTAATGGACGAATTCTGCA 0.338 HMCN1 83872 broad.mit.edu 37 1 186083185 186083185 + Missense_Mutation SNP G A A rs138190200 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:186083185G>A uc001grq.1 + 73 11435 c.11206G>A c.(11206-11208)GCT>ACT p.A3736T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3736 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGAATGCATCGCTGAAGGTGT 0.408 NUAK2 81788 broad.mit.edu 37 1 205280831 205280831 + Splice_Site SNP A G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:205280831A>G uc001hce.2 - 2 479 c.352_splice c.e2+1 p.V118_splice NUAK2_uc009xbj.1_5'Flank NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TGCCCACTGTACCTTCATGGA 0.413 TRAF3IP3 80342 broad.mit.edu 37 1 209954760 209954760 + Missense_Mutation SNP A T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:209954760A>T uc001hho.2 + 16 1810 c.1520A>T c.(1519-1521)CAC>CTC p.H507L TRAF3IP3_uc001hhn.2_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.H507L NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 507 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGCTGCAGCACTGTCGAGAA 0.512 AS3MT 57412 broad.mit.edu 37 10 104638210 104638210 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr10:104638210C>T uc001kwk.2 + 8 825 c.685C>T c.(685-687)CGT>TGT p.R229C AS3MT_uc001kwj.2_Missense_Mutation_p.R231C|AS3MT_uc009xxh.2_Missense_Mutation_p.R229C NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 229 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) CTGCCCTCCACGTTTGGTCAC 0.408 OR52I1 390037 broad.mit.edu 37 11 4616048 4616048 + Frame_Shift_Del DEL G - - TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:4616048delG uc010qyi.1 + 1 780 c.780delG c.(778-780)ATGfs p.M260fs NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TACCTGGGATGGCATCCATCT 0.507 OR5D18 219438 broad.mit.edu 37 11 55587445 55587445 + Missense_Mutation SNP T A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:55587445T>A uc010rin.1 + 1 340 c.340T>A c.(340-342)TTT>ATT p.F114I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CACTGAATCCTTTTTATTAGC 0.433 ACRV1 56 broad.mit.edu 37 11 125542539 125542539 + Silent SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:125542539C>T uc001qcs.2 - 4 1014 c.747G>A c.(745-747)ACG>ACA p.T249T CHEK1_uc001qcf.3_Intron|ACRV1_uc001qck.2_Silent_p.T160T|ACRV1_uc001qcl.2_Silent_p.T179T|ACRV1_uc001qcm.2_Silent_p.T105T|ACRV1_uc001qcn.2_Silent_p.T194T|ACRV1_uc001qco.2_Silent_p.T154T|ACRV1_uc001qcp.2_Silent_p.T65T|ACRV1_uc001qcq.2_Silent_p.T139T|ACRV1_uc001qcr.2_Silent_p.T230T NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 249 multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) TTTGCATCCTCGTTCCATGGG 0.448 ADAMTS20 80070 broad.mit.edu 37 12 43833726 43833726 + Nonsense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:43833726G>A uc010skx.1 - 17 2437 c.2437C>T c.(2437-2439)CGA>TGA p.R813* ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 813 Spacer. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCTCTTGTCGATTAGTACTA 0.299 H1FNT 341567 broad.mit.edu 37 12 48723149 48723149 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:48723149G>A uc001rrm.2 + 1 387 c.75G>A c.(73-75)GCG>GCA p.A25A NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 25 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 TGGCTGAGGCGCCTGGGCCCA 0.657 B4GALNT1 2583 broad.mit.edu 37 12 58022670 58022670 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:58022670G>A uc001spg.1 - 8 1260 c.828C>T c.(826-828)AGC>AGT p.S276S B4GALNT1_uc010sru.1_Silent_p.S221S|B4GALNT1_uc010srv.1_Silent_p.S243S NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 276 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGACTAGAGCGCTGATGTTGT 0.577 PTPN11 5781 broad.mit.edu 37 12 112926910 112926910 + Missense_Mutation SNP G C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:112926910G>C uc001ttx.2 + 13 1910 c.1530G>C c.(1528-1530)CAG>CAC p.Q510H NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 514 Tyrosine-protein phosphatase. Q -> P (in LEOPARD1). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.Q510K(2)|p.Q510H(1) haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 CAGAAGCACAGTACCGATTTA 0.493 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome C12orf52 84934 broad.mit.edu 37 12 113629392 113629392 + Silent SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:113629392C>T uc001tur.1 + 4 1048 c.580C>T c.(580-582)CTG>TTG p.L194L C12orf52_uc009zwg.1_Silent_p.L191L|C12orf52_uc001tus.1_Silent_p.L194L|C12orf52_uc001tut.1_Silent_p.L218L NM_032848 NP_116237 Q96K30 RITA_HUMAN hypothetical protein LOC84934 194 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding 0 TTCACGCCCCCTGAAGCGGGG 0.607 DNAH10 196385 broad.mit.edu 37 12 124393905 124393905 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:124393905G>A uc001uft.3 + 57 9584 c.9559G>A c.(9559-9561)GTG>ATG p.V3187M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3187 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCCAAGGGCGTGATGTCCGA 0.502 GPR133 283383 broad.mit.edu 37 12 131475583 131475583 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:131475583C>T uc001uit.3 + 7 1329 c.770C>T c.(769-771)ACG>ATG p.T257M GPR133_uc010tbm.1_Missense_Mutation_p.T289M NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 257 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TTGTCTTCAACGCTGCCAAGC 0.478 MDGA2 161357 broad.mit.edu 37 14 47389235 47389235 + Missense_Mutation SNP A G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:47389235A>G uc001wwj.3 - 10 2207 c.2011T>C c.(2011-2013)TAC>CAC p.Y671H MDGA2_uc001wwi.3_Missense_Mutation_p.Y442H|MDGA2_uc010ani.2_Missense_Mutation_p.Y231H NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 671 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCCAACCGGTATGCAACAATC 0.423 SYNE2 23224 broad.mit.edu 37 14 64686074 64686074 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:64686074G>A uc001xgm.2 + 109 19967 c.19737G>A c.(19735-19737)ATG>ATA p.M6579I SYNE2_uc001xgl.2_Missense_Mutation_p.M6602I|SYNE2_uc010apy.2_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.2_Missense_Mutation_p.M1541I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M549I|SYNE2_uc001xgq.2_Missense_Mutation_p.M944I|SYNE2_uc001xgr.2_Missense_Mutation_p.M362I|SYNE2_uc010tsi.1_Missense_Mutation_p.M236I|SYNE2_uc001xgs.2_Missense_Mutation_p.M236I|SYNE2_uc001xgt.2_Missense_Mutation_p.M110I NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6579 Cytoplasmic (Potential).|Spectrin 9. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTAAAGATGGCAAAGCCTC 0.433 LTBP2 4053 broad.mit.edu 37 14 75078500 75078500 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:75078500C>T uc001xqa.2 - 1 535 c.148G>A c.(148-150)GCG>ACG p.A50T NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 50 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGTCGATTCGCGTCTCCACCA 0.692 AK7 122481 broad.mit.edu 37 14 96875256 96875256 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:96875256C>T uc001yfn.2 + 4 520 c.476C>T c.(475-477)GCG>GTG p.A159V NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 159 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATGACTTGGGCGCGCTCCAAA 0.473 PACS2 23241 broad.mit.edu 37 14 105859121 105859121 + Silent SNP C G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:105859121C>G uc001yqt.2 + 22 2551 c.2376C>G c.(2374-2376)GGC>GGG p.G792G PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqv.2_Silent_p.G796G|PACS2_uc001yqu.2_Silent_p.G807G NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 792 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CCAGCAGCGGCGAGGCTGCAG 0.612 TRPM1 4308 broad.mit.edu 37 15 31295059 31295059 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr15:31295059G>A uc001zfm.2 - 27 3906 c.3778C>T c.(3778-3780)CGG>TGG p.R1260W TRPM1_uc010azy.2_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1260 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTGCTTTGCCGGAGAAGATAC 0.473 Unknown 0 broad.mit.edu 37 15 102292785 102292785 + Missense_Mutation SNP C G G rs143389223 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr15:102292785C>G uc010usj.1 + 4 432 c.373C>G c.(373-375)CAG>GAG p.Q125E uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; TGCTGCTTCTCAGAGCTGCTG 0.602 FBXL16 146330 broad.mit.edu 37 16 745854 745854 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:745854C>T uc002cjc.2 - 4 906 c.703G>A c.(703-705)GGG>AGG p.G235R FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Missense_Mutation_p.G23R NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 235 0 Hepatocellular(780;0.0218) GACCACAGCCCGGCCTCGGTG 0.672 CHTF18 63922 broad.mit.edu 37 16 839297 839297 + Missense_Mutation SNP C G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:839297C>G uc002cke.3 + 3 437 c.374C>G c.(373-375)TCC>TGC p.S125C RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.S153C|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_Intron NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 125 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) CCTCCCGACTCCTCGCCGACG 0.662 GP2 2813 broad.mit.edu 37 16 20328646 20328646 + Silent SNP G T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:20328646G>T uc002dgv.2 - 9 1397 c.1314C>A c.(1312-1314)TCC>TCA p.S438S GP2_uc002dgw.2_Silent_p.S435S|GP2_uc002dgx.2_Silent_p.S291S|GP2_uc002dgy.2_Silent_p.S288S NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 438 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 GGCTTTCCGAGGACTGCCCAT 0.468 DNAH3 55567 broad.mit.edu 37 16 21053361 21053361 + Silent SNP G A A rs150869091 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:21053361G>A uc010vbe.1 - 32 4626 c.4626C>T c.(4624-4626)CCC>CCT p.P1542P NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1542 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TGAGATTGTCGGGCAGTTCAG 0.403 ZNF423 23090 broad.mit.edu 37 16 49671646 49671646 + Missense_Mutation SNP G C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:49671646G>C uc002efs.2 - 5 1715 c.1417C>G c.(1417-1419)CAG>GAG p.Q473E ZNF423_uc010vgn.1_Missense_Mutation_p.Q356E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 473 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TTGCCAAACTGCATCACAGGG 0.577 OR1D2 4991 broad.mit.edu 37 17 2995386 2995386 + Missense_Mutation SNP C A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:2995386C>A uc010vrb.1 - 1 905 c.905G>T c.(904-906)AGA>ATA p.R302I NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 302 Cytoplasmic (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 ATCTAGGAGTCTTCCCAGAGC 0.463 NF1 4763 broad.mit.edu 37 17 29508439 29508439 + Splice_Site SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:29508439G>A uc002hgg.2 + 6 920 c.587_splice c.e6-1 p.E196_splice NF1_uc002hge.1_Splice_Site_p.E196_splice|NF1_uc002hgf.1_Splice_Site_p.E196_splice|NF1_uc002hgh.2_Splice_Site_p.E196_splice|NF1_uc010csn.1_Splice_Site_p.E56_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTTTTCCAGAAACAGCATT 0.299 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) WNT9B 7484 broad.mit.edu 37 17 44949992 44949992 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:44949992C>T uc002ikw.1 + 2 224 c.187C>T c.(187-189)CGG>TGG p.R63W WNT9B_uc002ikx.1_Missense_Mutation_p.R63W NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 63 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCTGTCCCGGCGGCAGAAGCA 0.682 IGF2BP1 10642 broad.mit.edu 37 17 47118832 47118832 + Missense_Mutation SNP A C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:47118832A>C uc002iom.2 + 8 1245 c.911A>C c.(910-912)CAA>CCA p.Q304P IGF2BP1_uc010dbj.2_Missense_Mutation_p.Q165P NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 304 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 2. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 AAGGTAGAGCAAGATACCGAG 0.498 SDK2 54549 broad.mit.edu 37 17 71418469 71418469 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:71418469C>T uc010dfm.2 - 15 2002 c.2002G>A c.(2002-2004)GTC>ATC p.V668I SDK2_uc010dfn.2_Missense_Mutation_p.V347I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 668 Extracellular (Potential).|Fibronectin type-III 1. cell adhesion integral to membrane ovary(2) 2 ACGTCGTTGACGGCACAAAGA 0.617 LAMA1 284217 broad.mit.edu 37 18 6999962 6999962 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr18:6999962C>T uc002knm.2 - 31 4511 c.4417G>A c.(4417-4419)GAT>AAT p.D1473N LAMA1_uc010wzj.1_Missense_Mutation_p.D949N NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1473 Laminin EGF-like 16. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAACGGAAATCGTGGTCCCCT 0.423 RIOK3 8780 broad.mit.edu 37 18 21043044 21043044 + Splice_Site SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr18:21043044G>A uc002kui.3 + 2 796 c.179_splice c.e2+1 p.A60_splice RIOK3_uc010dls.2_Splice_Site_p.A60_splice|RIOK3_uc010xas.1_Splice_Site_p.A60_splice NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGAAGTTGCGTAAGTAAAAT 0.348 DOCK6 57572 broad.mit.edu 37 19 11353971 11353971 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:11353971C>T uc002mqs.3 - 12 1390 c.1349G>A c.(1348-1350)CGT>CAT p.R450H NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 450 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CGTGGCTGGACGGAAGCCAGA 0.677 OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR7A10 390892 broad.mit.edu 37 19 14952342 14952342 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:14952342G>A uc002mzx.1 - 1 348 c.348C>T c.(346-348)ACC>ACT p.T116T NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) AGGCCATCACGGTCAGAAGGA 0.483 FCGBP 8857 broad.mit.edu 37 19 40364217 40364217 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:40364217G>A uc002omp.3 - 31 14433 c.14425C>T c.(14425-14427)CCG>TCG p.P4809S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4809 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGGGCCCGGGTAGAAGACC 0.657 EML2 24139 broad.mit.edu 37 19 46112931 46112931 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:46112931C>T uc002pcn.2 - 19 1975 c.1940G>A c.(1939-1941)CGG>CAG p.R647Q EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.R531Q|EML2_uc010xxl.1_Missense_Mutation_p.R794Q|EML2_uc010xxm.1_Missense_Mutation_p.R848Q NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 647 WD 11. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TCAGACCACCCGCCACTGTAG 0.537 ELSPBP1 64100 broad.mit.edu 37 19 48525436 48525436 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:48525436C>T uc002pht.2 + 6 679 c.524C>T c.(523-525)GCG>GTG p.A175V NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 175 single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGAATTTCCGCGTTGGTCCCT 0.453 LPIN1 23175 broad.mit.edu 37 2 11943091 11943091 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:11943091G>A uc010yjn.1 + 15 2111 c.1837G>A c.(1837-1839)GCA>ACA p.A613T LPIN1_uc010yjm.1_Missense_Mutation_p.A698T|LPIN1_uc002rbt.2_Missense_Mutation_p.A613T|LPIN1_uc010yjo.1_Missense_Mutation_p.A114T NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 613 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GCCATCAAACGCAGGCCACCT 0.532 IL1RL1 9173 broad.mit.edu 37 2 102959595 102959595 + Missense_Mutation SNP T C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:102959595T>C uc002tbu.1 + 7 1053 c.782T>C c.(781-783)TTT>TCT p.F261S IL1RL1_uc010ywa.1_Missense_Mutation_p.F144S|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.F261S NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 261 Extracellular (Potential).|Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 ATTACAGACTTTGGTGAACCA 0.423 LRP2 4036 broad.mit.edu 37 2 170066149 170066149 + Nonsense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:170066149G>A uc002ues.2 - 38 6496 c.6283C>T c.(6283-6285)CGA>TGA p.R2095* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2095 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTGCGTTTCGTCCTGGAAGT 0.418 DNAH7 56171 broad.mit.edu 37 2 196765215 196765215 + Missense_Mutation SNP G C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:196765215G>C uc002utj.3 - 28 4440 c.4339C>G c.(4339-4341)CTC>GTC p.L1447V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1447 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GTCCGAAAGAGAGCCTATGGG 0.303 AOX1 316 broad.mit.edu 37 2 201478598 201478598 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:201478598C>T uc002uvx.2 + 15 1621 c.1520C>T c.(1519-1521)GCG>GTG p.A507V AOX1_uc010zhf.1_Missense_Mutation_p.A63V|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 507 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGGCTCGGCGCCAGGTGGG 0.473 FAM126B 285172 broad.mit.edu 37 2 201881771 201881771 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:201881771G>A uc002uws.3 - 5 464 c.276C>T c.(274-276)AGC>AGT p.S92S FAM126B_uc002uwu.2_Silent_p.S10S|FAM126B_uc002uwv.2_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 92 intracellular ovary(1) 1 GTCTGTCTCGGCTAACTGTAA 0.388 TRPM8 79054 broad.mit.edu 37 2 234835206 234835206 + Silent SNP C A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:234835206C>A uc002vvh.2 + 2 64 c.24C>A c.(22-24)CTC>CTA p.L8L TRPM8_uc010fyj.2_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 8 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CAGCCAGGCTCAGCATGAGGA 0.522 PROKR2 128674 broad.mit.edu 37 20 5282952 5282952 + Missense_Mutation SNP C T T rs139399061 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:5282952C>T uc010zqw.1 - 2 889 c.889G>A c.(889-891)GTT>ATT p.V297I PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 297 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 AAGTCACGAACGATGGTGAAA 0.562 HNSCC(71;0.22) SYCP2 10388 broad.mit.edu 37 20 58489299 58489299 + Missense_Mutation SNP G T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:58489299G>T uc002yaz.2 - 10 781 c.642C>A c.(640-642)GAC>GAA p.D214E SYCP2_uc010gju.1_Missense_Mutation_p.D115E NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 214 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CTACCTGTAAGTCATAATCTA 0.289 ARFGAP1 55738 broad.mit.edu 37 20 61907550 61907550 + Silent SNP C A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:61907550C>A uc002yem.2 + 3 280 c.168C>A c.(166-168)CTC>CTA p.L56L ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Silent_p.L56L|ARFGAP1_uc002yen.2_Silent_p.L56L NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 56 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) GGGTTCACCTCAGGTCAGTGT 0.642 OR5H2 79310 broad.mit.edu 37 3 98001924 98001924 + Missense_Mutation SNP T A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:98001924T>A uc003dsj.1 + 1 193 c.193T>A c.(193-195)TAC>AAC p.Y65N NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 CATCCCCATGTACTTTTTTCT 0.408 OR5H2 79310 broad.mit.edu 37 3 98002428 98002428 + Missense_Mutation SNP A C C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:98002428A>C uc003dsj.1 + 1 697 c.697A>C c.(697-699)AAG>CAG p.K233Q NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 AATCCTAAAAAAGAAGTCTGT 0.363 SLCO2A1 6578 broad.mit.edu 37 3 133692615 133692615 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:133692615G>A uc003eqa.3 - 3 563 c.289C>T c.(289-291)CGT>TGT p.R97C SLCO2A1_uc003eqb.3_Missense_Mutation_p.R97C|SLCO2A1_uc011blv.1_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 97 Cytoplasmic (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 AGACGTGGACGGTGCACCCGG 0.572 SR140 23350 broad.mit.edu 37 3 142735741 142735741 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:142735741C>T uc003evh.1 + 6 593 c.494C>T c.(493-495)GCA>GTA p.A165V SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.A165V|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.A165V NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 165 RNA processing nucleus nucleotide binding|RNA binding 0 TCAAGATTTGCAGATCAAAAA 0.303 BCHE 590 broad.mit.edu 37 3 165548715 165548715 + Missense_Mutation SNP G T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:165548715G>T uc003fem.3 - 2 267 c.107C>A c.(106-108)ACA>AAA p.T36K BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 36 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCCATTCTTTGTTGCAATTAT 0.408 GHSR 2693 broad.mit.edu 37 3 172165593 172165593 + Missense_Mutation SNP G A A rs121917883 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:172165593G>A uc003fib.1 - 1 611 c.611C>T c.(610-612)GCG>GTG p.A204V GHSR_uc011bpv.1_Missense_Mutation_p.A204V NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 204 Extracellular (Potential). A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGAGCGCACCGCAAACTCGGT 0.622 CCDC158 339965 broad.mit.edu 37 4 77288530 77288530 + Nonsense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:77288530G>A uc003hkb.3 - 11 1900 c.1747C>T c.(1747-1749)CGA>TGA p.R583* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 583 Potential. skin(3)|ovary(2)|pancreas(1) 6 CCAGCAGTTCGTCCATGCTGG 0.453 SEC31A 22872 broad.mit.edu 37 4 83799939 83799939 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:83799939C>T uc003hnf.2 - 4 510 c.346G>A c.(346-348)GCC>ACC p.A116T SEC31A_uc011ccl.1_Missense_Mutation_p.A116T|SEC31A_uc003hnl.2_Missense_Mutation_p.A116T|SEC31A_uc003hng.2_Missense_Mutation_p.A116T|SEC31A_uc003hnh.2_Missense_Mutation_p.A116T|SEC31A_uc003hni.2_Missense_Mutation_p.A116T|SEC31A_uc003hnj.2_Missense_Mutation_p.A116T|SEC31A_uc011ccm.1_Missense_Mutation_p.A111T|SEC31A_uc011ccn.1_Missense_Mutation_p.A116T|SEC31A_uc003hnk.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.2_Missense_Mutation_p.A116T|SEC31A_uc003hnn.1_Missense_Mutation_p.A116T|SEC31A_uc003hno.2_Missense_Mutation_p.A116T NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 116 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TCATTCTGGGCAATCACAACT 0.398 PCDH18 54510 broad.mit.edu 37 4 138451923 138451923 + Silent SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:138451923C>T uc003ihe.3 - 1 1707 c.1320G>A c.(1318-1320)AGG>AGA p.R440R PCDH18_uc003ihf.3_Silent_p.R433R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.R220R|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 440 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TGGGTGTCCCCCTGTCCTCAG 0.373 MYO10 4651 broad.mit.edu 37 5 16668507 16668507 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:16668507C>T uc003jft.3 - 40 6422 c.5954G>A c.(5953-5955)CGT>CAT p.R1985H MYO10_uc011cnb.1_Missense_Mutation_p.R614H|MYO10_uc011cnc.1_Missense_Mutation_p.R864H|MYO10_uc011cnd.1_Missense_Mutation_p.R1342H|MYO10_uc011cne.1_Missense_Mutation_p.R1342H|MYO10_uc010itx.2_Missense_Mutation_p.R1607H NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1985 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TCCCTCTCCACGCTTGTAGAC 0.547 CDH9 1007 broad.mit.edu 37 5 26885965 26885965 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:26885965G>A uc003jgs.1 - 11 1809 c.1640C>T c.(1639-1641)GCA>GTA p.A547V CDH9_uc011cnv.1_Missense_Mutation_p.A140V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 547 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CATGATTCCTGCTGTATTATC 0.318 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139889605 139889605 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:139889605G>A uc003lfs.1 + 22 4067 c.3943G>A c.(3943-3945)GGA>AGA p.G1315R ANKHD1_uc003lfq.1_Missense_Mutation_p.G1334R|ANKHD1_uc003lfr.2_Missense_Mutation_p.G1315R|ANKHD1_uc003lft.1_Missense_Mutation_p.G526R|ANKHD1_uc003lfu.1_Missense_Mutation_p.G795R|ANKHD1_uc003lfv.1_Missense_Mutation_p.G392R|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G54R|ANKHD1_uc003lfw.2_5'UTR NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1315 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTTACAGGGGAGCCCACAT 0.393 PCDHA4 56144 broad.mit.edu 37 5 140188686 140188686 + Silent SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:140188686C>T uc003lhi.2 + 1 2015 c.1914C>T c.(1912-1914)GAC>GAT p.D638D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 638 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCCTGGACGAAACGGACG 0.677 PCDHGB3 56102 broad.mit.edu 37 5 140751537 140751537 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:140751537C>T uc003ljw.1 + 1 1576 c.1576C>T c.(1576-1578)CGT>TGT p.R526C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R526C|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 526 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCAGCTGCGTGCCTTCGA 0.692 CAMK2A 815 broad.mit.edu 37 5 149602771 149602771 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:149602771C>T uc003lru.2 - 17 1429 c.1214G>A c.(1213-1215)CGG>CAG p.R405Q CAMK2A_uc003lrs.2_Missense_Mutation_p.R116Q|CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 405 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGCTGTTCCGGGACCACAC 0.612 LARP1 23367 broad.mit.edu 37 5 154188110 154188110 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:154188110G>A uc003lvp.2 + 16 3219 c.2790G>A c.(2788-2790)AAG>AAA p.K930K LARP1_uc003lvo.2_Silent_p.K853K NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 930 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAACAAAAAGATGTATGAGG 0.532 LARP1 23367 broad.mit.edu 37 5 154188112 154188112 + Missense_Mutation SNP T A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:154188112T>A uc003lvp.2 + 16 3221 c.2792T>A c.(2791-2793)ATG>AAG p.M931K LARP1_uc003lvo.2_Missense_Mutation_p.M854K NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 931 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACAAAAAGATGTATGAGGAG 0.532 GABRA6 2559 broad.mit.edu 37 5 161116737 161116737 + Missense_Mutation SNP G T T rs145469537 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:161116737G>T uc003lyu.2 + 6 963 c.625G>T c.(625-627)GAT>TAT p.D209Y GABRA6_uc003lyv.2_5'UTR NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 209 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.D209N(1) ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTCCAGTATGATCTGATTGG 0.378 TCGA Ovarian(5;0.080) ENPP5 59084 broad.mit.edu 37 6 46135819 46135819 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:46135819C>T uc003oxz.1 - 2 389 c.181G>A c.(181-183)GTG>ATG p.V61M ENPP5_uc003oya.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc010jzc.1_Missense_Mutation_p.V61M NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 61 extracellular region|integral to membrane hydrolase activity 0 ACTTGCTTCACGTGAACACCA 0.348 LGSN 51557 broad.mit.edu 37 6 63991054 63991054 + Missense_Mutation SNP T A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:63991054T>A uc003peh.2 - 4 436 c.402A>T c.(400-402)GAA>GAT p.E134D LGSN_uc003pei.2_Missense_Mutation_p.E134D NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 134 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TGTTATTCATTTCATTGTCCT 0.393 EPHA7 2045 broad.mit.edu 37 6 93956625 93956625 + Missense_Mutation SNP C G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:93956625C>G uc003poe.2 - 15 2852 c.2611G>C c.(2611-2613)GAT>CAT p.D871H EPHA7_uc003pof.2_Missense_Mutation_p.D866H|EPHA7_uc011eac.1_Missense_Mutation_p.D867H NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 871 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCCAACAATCCAACATTAGC 0.418 MAN1A1 4121 broad.mit.edu 37 6 119669897 119669897 + Missense_Mutation SNP C G G rs139302645 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:119669897C>G uc003pym.1 - 2 776 c.334G>C c.(334-336)GAC>CAC p.D112H MAN1A1_uc010kei.1_Missense_Mutation_p.D112H NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 112 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCCTCCGGGTCCCCGGGTGCC 0.502 MED23 9439 broad.mit.edu 37 6 131929144 131929144 + Frame_Shift_Del DEL C - - TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:131929144delC uc003qcs.1 - 12 1319 c.1145delG c.(1144-1146)GGAfs p.G382fs MED23_uc003qcq.2_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 382 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTGAATACTTCCAGAAATGAA 0.378 ECT2L 345930 broad.mit.edu 37 6 139183819 139183819 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:139183819G>A uc003qif.1 + 9 1357 c.1254G>A c.(1252-1254)ACG>ACA p.T418T ECT2L_uc011edq.1_Silent_p.T349T NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 418 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CGTTCTTTACGGCCCCCACTG 0.463 MAP3K4 4216 broad.mit.edu 37 6 161470034 161470034 + Missense_Mutation SNP A G G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:161470034A>G uc003qtn.2 + 3 872 c.730A>G c.(730-732)AGG>GGG p.R244G MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.2_Missense_Mutation_p.R244G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 244 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAAAAAAGACAGGGAGCAAAG 0.433 NPC1L1 29881 broad.mit.edu 37 7 44579249 44579249 + Silent SNP G A A rs148698796 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:44579249G>A uc003tlb.2 - 2 803 c.747C>T c.(745-747)GAC>GAT p.D249D NPC1L1_uc003tlc.2_Silent_p.D249D|NPC1L1_uc011kbw.1_Silent_p.D249D|NPC1L1_uc003tld.2_Silent_p.D249D NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 249 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) TCGCCACGTCGTCACCTTGGG 0.632 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CACNA2D1 781 broad.mit.edu 37 7 81598223 81598223 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:81598223C>T uc003uhr.1 - 29 2631 c.2375G>A c.(2374-2376)GGG>GAG p.G792E CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 804 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAGAAGTTTCCCTTGAATATA 0.284 CHMP4C 92421 broad.mit.edu 37 8 82644913 82644913 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:82644913G>A uc003ycl.2 + 1 226 c.52G>A c.(52-54)GCC>ACC p.A18T NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN chromatin modifying protein 4C 18 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(2) 2 TAAGAGCCGAGCCGCTCCCAG 0.587 WDYHV1 55093 broad.mit.edu 37 8 124453566 124453566 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:124453566G>A uc003yqn.1 + 6 654 c.529G>A c.(529-531)GAT>AAT p.D177N WDYHV1_uc011lij.1_Missense_Mutation_p.D117N|WDYHV1_uc003yqo.1_RNA NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 177 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 GAACCTGAACGATTTCATCAG 0.373 SLC45A4 57210 broad.mit.edu 37 8 142228261 142228261 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:142228261G>A uc003ywd.1 - 4 1633 c.1325C>T c.(1324-1326)ACG>ATG p.T442M SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 493 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGCGCACCGTGGTCTCGCC 0.682 RHPN1 114822 broad.mit.edu 37 8 144462083 144462083 + Missense_Mutation SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:144462083G>A uc003yyb.2 + 9 1163 c.1030G>A c.(1030-1032)GTG>ATG p.V344M NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 344 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GACTGCCCTGGTGCATGTCAA 0.657 TAF1L 138474 broad.mit.edu 37 9 32633610 32633610 + Missense_Mutation SNP T A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:32633610T>A uc003zrg.1 - 1 2058 c.1968A>T c.(1966-1968)CAA>CAT p.Q656H uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 656 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTAGCAAAGGTTGGACTGAAT 0.502 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899196 112899196 + Missense_Mutation SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:112899196C>T uc004bei.2 + 9 2260 c.2068C>T c.(2068-2070)CGC>TGC p.R690C PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|AKAP2_uc011lwi.1_Missense_Mutation_p.R316C|AKAP2_uc004bem.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|AKAP2_uc011lwj.1_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R227C NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 227 Potential. enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AGAGCTCATCCGCAGCCAGGC 0.512 PMPCA 23203 broad.mit.edu 37 9 139306464 139306464 + Silent SNP G A A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:139306464G>A uc004chl.2 + 2 92 c.87G>A c.(85-87)GCG>GCA p.A29A SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 29 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GACCTCCTGCGTACAGACGGT 0.493 KLHL13 90293 broad.mit.edu 37 X 117043736 117043736 + Silent SNP C T T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chrX:117043736C>T uc004eql.2 - 5 956 c.894G>A c.(892-894)ACG>ACA p.T298T KLHL13_uc004eqk.2_Silent_p.T247T|KLHL13_uc011mtn.1_Silent_p.T138T|KLHL13_uc011mto.1_Silent_p.T292T|KLHL13_uc011mtp.1_Silent_p.T300T|KLHL13_uc004eqm.2_Silent_p.T247T|KLHL13_uc011mtq.1_Silent_p.T282T NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 298 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 TGAAATCCACCGTTTGCACGT 0.423