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 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr1:158592861G>A uc001fst.1 - 43 6231 c.6032C>T c.(6031-6033)GCC>GTC p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2011 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483 C1orf112 55732 broad.mit.edu 37 1 169772375 169772375 + Silent SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr1:169772375C>T uc001ggp.2 + 6 547 c.237C>T c.(235-237)TCC>TCT p.S79S C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggo.2_Silent_p.S79S|C1orf112_uc001ggq.2_Silent_p.S79S|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Silent_p.S50S|C1orf112_uc009wvu.1_Silent_p.S50S|C1orf112_uc001ggr.2_5'UTR|C1orf112_uc010plv.1_Silent_p.S21S NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 79 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACAGGAATCCATCATTTTGG 0.363 DLG5 9231 broad.mit.edu 37 10 79566617 79566617 + Silent SNP C A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr10:79566617C>A uc001jzk.2 - 26 4936 c.4866G>T c.(4864-4866)GTG>GTT p.V1622V DLG5_uc001jzi.2_Silent_p.V377V|DLG5_uc001jzj.2_Silent_p.V1037V|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1622 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGTGTCATCCACGTAGAGGA 0.572 OR8H2 390151 broad.mit.edu 37 11 55873242 55873242 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr11:55873242G>A uc010riy.1 + 1 724 c.724G>A c.(724-726)GTC>ATC p.V242I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CTCTACTTGCGTCTCTCATCT 0.383 HNSCC(53;0.14) GLYATL2 219970 broad.mit.edu 37 11 58602091 58602091 + Silent SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr11:58602091G>A uc001nnd.3 - 6 827 c.696C>T c.(694-696)TAC>TAT p.Y232Y GLYATL2_uc009ymq.2_Silent_p.Y232Y NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 232 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CTTGGTGTCTGTATTTGGGGA 0.413 CTTN 2017 broad.mit.edu 37 11 70279266 70279266 + Silent SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr11:70279266G>A uc001opv.3 + 16 1532 c.1326G>A c.(1324-1326)CCG>CCA p.P442P CTTN_uc001opu.2_Silent_p.P405P|CTTN_uc001opw.3_Silent_p.P405P|CTTN_uc010rqm.1_Silent_p.P126P|CTTN_uc001opx.2_Silent_p.P126P NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 442 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGACGGAGCCGGAGCCCGTGT 0.652 DYNC2H1 79659 broad.mit.edu 37 11 103014114 103014114 + Nonsense_Mutation SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr11:103014114C>T uc001pho.2 + 18 2836 c.2692C>T c.(2692-2694)CGA>TGA p.R898* DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R898*|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 898 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGAAGTAGAACGACTTCCAAG 0.363 BCL2L14 79370 broad.mit.edu 37 12 12232401 12232401 + Silent SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr12:12232401C>T uc001rac.2 + 2 363 c.162C>T c.(160-162)TCC>TCT p.S54S ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.S54S|BCL2L14_uc001rae.2_Silent_p.S54S NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 54 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding p.S54S(1) skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GAAGTTTGTCCCAGAGGGGCC 0.488 LIMA1 51474 broad.mit.edu 37 12 50575756 50575756 + Missense_Mutation SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr12:50575756C>T uc001rwj.3 - 10 1379 c.1205G>A c.(1204-1206)CGT>CAT p.R402H LIMA1_uc001rwg.3_Missense_Mutation_p.R100H|LIMA1_uc001rwh.3_Missense_Mutation_p.R241H|LIMA1_uc001rwi.3_Missense_Mutation_p.R243H|LIMA1_uc001rwk.3_Missense_Mutation_p.R403H|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 402 LIM zinc-binding. actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GGCCAAGAGACGCTCCATTGG 0.473 DGKA 1606 broad.mit.edu 37 12 56330335 56330335 + Silent SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr12:56330335G>A uc001sij.2 + 2 312 c.48G>A c.(46-48)CTG>CTA p.L16L DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.2_Silent_p.L16L|DGKA_uc001sil.2_Silent_p.L16L|DGKA_uc001sim.2_Silent_p.L16L|DGKA_uc001sin.2_Silent_p.L16L|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 16 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TTGCCCAGCTGCAAAAATACA 0.527 FREM2 341640 broad.mit.edu 37 13 39266205 39266205 + Missense_Mutation SNP T G G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr13:39266205T>G uc001uwv.2 + 1 5033 c.4724T>G c.(4723-4725)GTG>GGG p.V1575G NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1575 Extracellular (Potential).|CSPG 11. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATCACCCAGGTGCCTATTCAT 0.418 CHD8 57680 broad.mit.edu 37 14 21871325 21871325 + Nonsense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr14:21871325G>A uc001was.1 - 18 2822 c.2728C>T c.(2728-2730)CAG>TAG p.Q910* CHD8_uc001war.1_Nonsense_Mutation_p.Q806*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352* NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1189 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ATGGCAGCCTGTCGAAGGTTG 0.478 LRFN5 145581 broad.mit.edu 37 14 42360496 42360496 + Missense_Mutation SNP G C C TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr14:42360496G>C uc001wvm.2 + 4 2627 c.1429G>C c.(1429-1431)GCT>CCT p.A477P LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 477 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAATAATCTGGCTGCTGGAAC 0.403 HNSCC(30;0.082) IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - G G rs2981599 TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr16:3119304_3119305insG uc002cto.2 + 6 864_865 c.653_654insG c.(652-654)GACfs p.D218fs IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 218 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 CCACGGGGGGACAAGGAGGAGC 0.574 ZNF263 10127 broad.mit.edu 37 16 3339555 3339555 + Missense_Mutation SNP A G G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr16:3339555A>G uc002cuq.2 + 6 1381 c.1049A>G c.(1048-1050)GAG>GGG p.E350G ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 350 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 CCTCCCCCAGAGGGTGGAATG 0.617 ADCY9 115 broad.mit.edu 37 16 4016471 4016471 + Missense_Mutation SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr16:4016471C>T uc002cvx.2 - 11 3906 c.3367G>A c.(3367-3369)GCG>ACG p.A1123T NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1123 Guanylate cyclase 2.|Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 TGGGCCTGCGCGGTGTTCAGC 0.602 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G A A rs150520281 by1000genomes TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr16:21817457G>A uc010vbl.1 - 7 603 c.106C>T c.(106-108)CTG>TTG p.L36L uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 CTTACATCCAGCTTGAGTAGT 0.254 TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA - - rs140846731 TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr16:75690204_75690206delGAA uc002fet.1 + 3 992_994 c.895_897delGAA c.(895-897)GAAdel p.E304del NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 TGATgaggaggaagaagaagaag 0.369 NF1 4763 broad.mit.edu 37 17 29533304 29533304 + Nonsense_Mutation SNP C A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr17:29533304C>A uc002hgg.2 + 12 1640 c.1307C>A c.(1306-1308)TCG>TAG p.S436* NF1_uc002hge.1_Nonsense_Mutation_p.S436*|NF1_uc002hgf.1_Nonsense_Mutation_p.S436*|NF1_uc002hgh.2_Nonsense_Mutation_p.S436*|NF1_uc010csn.1_Nonsense_Mutation_p.S296* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 436 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 p.?(2) 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) TATTGTCACTCGGTTGAACTT 0.413 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) CYP4F11 57834 broad.mit.edu 37 19 16034748 16034748 + Silent SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr19:16034748G>A uc002nbu.2 - 7 828 c.792C>T c.(790-792)CAC>CAT p.H264H CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 264 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 CTGTGAAGTCGTGCACCAGGT 0.527 USE1 55850 broad.mit.edu 37 19 17329200 17329200 + Missense_Mutation SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr19:17329200C>T uc002nfo.2 + 6 482 c.422C>T c.(421-423)ACT>ATT p.T141I USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Missense_Mutation_p.T141I NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 141 Cytoplasmic (Potential). lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 AGGAAGAGAACGTGAGTGTCT 0.582 PSG1 5669 broad.mit.edu 37 19 43382389 43382389 + Missense_Mutation SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr19:43382389C>T uc002ovb.2 - 2 244 c.106G>A c.(106-108)GTC>ATC p.V36I PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.V36I|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.V36I|PSG1_uc010eio.1_Missense_Mutation_p.V36I|PSG1_uc002oux.1_5'UTR|PSG1_uc002ouy.1_Missense_Mutation_p.V36I|PSG1_uc002ouz.1_Missense_Mutation_p.V36I|PSG1_uc002ova.1_Missense_Mutation_p.V36I|PSG1_uc002ovc.2_Missense_Mutation_p.V36I|PSG1_uc002ovd.1_Missense_Mutation_p.V36I NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 36 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) TCAATCGTGACTTGGGCAGTG 0.463 CACNG6 59285 broad.mit.edu 37 19 54503003 54503003 + Silent SNP A G G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr19:54503003A>G uc002qct.2 + 3 1112 c.522A>G c.(520-522)GGA>GGG p.G174G CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 174 Helical; (Potential). voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) TCCGAGTTGGAGCCGTCTGCT 0.587 LY75 4065 broad.mit.edu 37 2 160755280 160755280 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr2:160755280G>A uc002ubc.3 - 2 454 c.385C>T c.(385-387)CAT>TAT p.H129Y LY75_uc002ubb.3_Missense_Mutation_p.H129Y|LY75_uc010fos.2_Missense_Mutation_p.H129Y|LY75_uc010fot.1_Missense_Mutation_p.H129Y NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 129 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) GCTGTGCCATGTCCATCCTTC 0.522 SYN3 8224 broad.mit.edu 37 22 32937634 32937634 + Silent SNP G A A rs148217218 TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr22:32937634G>A uc003amx.2 - 7 999 c.840C>T c.(838-840)TAC>TAT p.Y280Y SYN3_uc003amy.2_Silent_p.Y280Y|SYN3_uc003amz.2_Silent_p.Y279Y NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 280 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 CGGTGGTGGCGTAGGTTTTGG 0.552 SI 6476 broad.mit.edu 37 3 164786544 164786544 + Missense_Mutation SNP G T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr3:164786544G>T uc003fei.2 - 5 511 c.449C>A c.(448-450)ACT>AAT p.T150N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 150 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTGATTTTGAGTTGTGAAGAG 0.323 HNSCC(35;0.089) PYDC2 152138 broad.mit.edu 37 3 191179074 191179074 + Silent SNP C T T rs141891926 by1000genomes TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr3:191179074C>T uc011bso.1 + 1 123 c.123C>T c.(121-123)ACC>ACT p.T41T NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN pyrin domain containing 2 41 DAPIN. cytoplasm|nucleus 0 AGCTACAGACCGTCCCCCAGA 0.542 KLHL5 51088 broad.mit.edu 37 4 39116788 39116788 + Silent SNP C G G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr4:39116788C>G uc003gts.2 + 10 2124 c.2049C>G c.(2047-2049)CCC>CCG p.P683P KLHL5_uc003gtp.2_Silent_p.P637P|KLHL5_uc003gtq.2_Silent_p.P496P|KLHL5_uc003gtr.1_Silent_p.P683P|KLHL5_uc003gtt.2_Silent_p.P622P NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 683 Kelch 5. cytoplasm|cytoskeleton actin binding ovary(1) 1 GATATGATCCCAAAACAGACA 0.383 GPRIN3 285513 broad.mit.edu 37 4 90170302 90170302 + Silent SNP C T T rs145721148 byFrequency TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr4:90170302C>T uc003hsm.1 - 2 1479 c.960G>A c.(958-960)GCG>GCA p.A320A NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 320 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CCTGCACCTCCGCATCTTGCC 0.537 HEATR7B2 133558 broad.mit.edu 37 5 41048449 41048449 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr5:41048449G>A uc003jmj.3 - 16 2151 c.1661C>T c.(1660-1662)CCT>CTT p.P554L HEATR7B2_uc003jmi.3_Missense_Mutation_p.P109L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 554 HEAT 6. binding ovary(6)|central_nervous_system(2) 8 CAGAAGCTCAGGTAAACGTGT 0.468 KCTD16 57528 broad.mit.edu 37 5 143853547 143853547 + Missense_Mutation SNP A C C TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr5:143853547A>C uc003lnm.1 + 4 1786 c.1157A>C c.(1156-1158)AAA>ACA p.K386T KCTD16_uc003lnn.1_Missense_Mutation_p.K386T NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 386 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AAAGCTGTTAAAGAAAAGCTC 0.443 UNC5A 90249 broad.mit.edu 37 5 176301527 176301527 + Silent SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr5:176301527C>T uc003mey.2 + 8 1530 c.1338C>T c.(1336-1338)ACC>ACT p.T446T UNC5A_uc010jkg.1_Silent_p.T406T NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 446 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTATGGGACCTTCAACTTCC 0.627 GRM3 2913 broad.mit.edu 37 7 86469103 86469103 + Missense_Mutation SNP C T T rs141671463 TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr7:86469103C>T uc003uid.2 + 4 3372 c.2273C>T c.(2272-2274)ACG>ATG p.T758M GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.T630M|GRM3_uc010leh.2_Missense_Mutation_p.T350M NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 758 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane p.T758M(1) lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCCTTCAAAACGCGGAAGTGC 0.428 CYP3A5 1577 broad.mit.edu 37 7 99262902 99262902 + Missense_Mutation SNP C G G TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr7:99262902C>G uc003urq.2 - 7 644 c.557G>C c.(556-558)GGC>GCC p.G186A ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.G6A|CYP3A5_uc003urr.2_Missense_Mutation_p.G73A|CYP3A5_uc011kiy.1_Missense_Mutation_p.G176A|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 186 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) AAATGATGTGCCAGTAATCAC 0.418 PIP 5304 broad.mit.edu 37 7 142836647 142836647 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr7:142836647G>A uc003wcf.1 + 4 389 c.353G>A c.(352-354)CGG>CAG p.R118Q NM_002652 NP_002643 P12273 PIP_HUMAN prolactin-induced protein precursor 118 extracellular region actin binding ovary(1) 1 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) GATGTTATTCGGGAATTAGGC 0.453 DMRT3 58524 broad.mit.edu 37 9 990484 990484 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chr9:990484G>A uc003zgw.1 + 2 936 c.898G>A c.(898-900)GCA>ACA p.A300T NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 300 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GCGAACTTCCGCAGAACCTGA 0.582 ZBED1 9189 broad.mit.edu 37 X 2407462 2407462 + Silent SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:2407462C>T uc004cqg.2 - 2 1500 c.1299G>A c.(1297-1299)ACG>ACA p.T433T DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T433T NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 433 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGATGTTGAGCGTGGTGTTCA 0.597 RAI2 10742 broad.mit.edu 37 X 17818684 17818684 + Missense_Mutation SNP G C C TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:17818684G>C uc004cyf.2 - 3 2017 c.1447C>G c.(1447-1449)CAA>GAA p.Q483E RAI2_uc004cyg.2_Missense_Mutation_p.Q483E|RAI2_uc010nfa.2_Missense_Mutation_p.Q483E|RAI2_uc004cyh.3_Missense_Mutation_p.Q483E|RAI2_uc011miy.1_Missense_Mutation_p.Q433E NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 483 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) TCTTCCCCTTGGCTGTTGATG 0.468 EIF2S3 1968 broad.mit.edu 37 X 24073154 24073154 + Silent SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:24073154G>A uc004dbc.2 + 1 90 c.69G>A c.(67-69)TTG>TTA p.L23L NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 23 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 TCACCACCTTGGTGAGGTTTT 0.587 OREG0019714 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PORCN 64840 broad.mit.edu 37 X 48368320 48368320 + Missense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:48368320G>A uc010nie.1 + 2 270 c.112G>A c.(112-114)GCC>ACC p.A38T PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc004djt.1_5'UTR|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 38 Helical; (Potential).|Leu-rich. Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 CATCTGCCTCGCCTGCCGCCT 0.413 WNK3 65267 broad.mit.edu 37 X 54276526 54276526 + Nonsense_Mutation SNP G A A TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:54276526G>A uc004dtd.1 - 16 3053 c.2614C>T c.(2614-2616)CGA>TGA p.R872* WNK3_uc004dtc.1_Nonsense_Mutation_p.R872* NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 872 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ATACAGAATCGCCACCGACCA 0.423 IL1RAPL2 26280 broad.mit.edu 37 X 105011568 105011568 + Silent SNP C T T TCGA-06-5410-01A-01D-1696-08 TCGA-06-5410-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 67244284-dc40-46cb-a2ac-3f4a38f7bbe4 2df41e20-041f-4e1e-86d9-3c38e36c9b33 g.chrX:105011568C>T uc004elz.1 + 11 2731 c.1975C>T c.(1975-1977)CTG>TTG p.L659L NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 659 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TAATAACACCCTGAAAGATAC 0.448