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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NRXN1 9378 broad.mit.edu 37 2 50779760 50779760 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:50779760C>A uc021vhg.1 - 8 2765 c.1844G>T c.(1843-1845)tGg>tTg p.W615L NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript NM_001135659 NP_001129131 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA. 575 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACATGATACCATTCTCCATC 0.463000 5 155 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880307 100880307 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrX:100880307C>A uc004ehz.1 + 4 871 c.338C>A c.(337-339)tCa>tAa p.S113* ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113* NM_016607 NP_808817 Q9UH62 ARMX3_HUMAN Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA. 113 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCCCCCAATTCAGATGATACC 0.527000 13 108 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681033 100681033 + Silent SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr7:100681033G>A uc003uxp.1 + 2 6389 c.6336G>A c.(6334-6336)acG>acA p.T2112T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2112 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCGGTGGCCA 0.498000 6 436 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24446031 24446031 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr6:24446031C>A uc003ned.1 - 18 1960 c.1849G>T c.(1849-1851)Gag>Tag p.E617* NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 617 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCTTTTTCTCATCTCGGATG 0.532000 4 105 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32698958 32698958 + Missense_Mutation SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr13:32698958T>C uc001utx.3 + 6 1158 c.662T>C c.(661-663)aTg>aCg p.M221T FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTGGCAATATGCATATTGTG 0.438000 5 201 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111870032 111870032 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr13:111870032A>G uc001vrs.2 + 5 788 c.538A>G c.(538-540)Acc>Gcc p.T180A ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 180 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTAGGACATGACCGATAATAG 0.378000 3 63 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336139 124336139 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr10:124336139C>T uc001lgk.1 + 6 614 c.508C>T c.(508-510)Cgc>Tgc p.R170C DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 170 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGATGATGTGCGCTGCTCAGG 0.587000 5 217 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875408 21875408 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chrX:21875408C>T uc011mjp.2 + 0 1304 c.806C>T c.(805-807)gCc>gTc p.A269V MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN Homo sapiens YY2 transcription factor (YY2), mRNA. 269 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGGGATTACGCCGCCATGAGA 0.498000 5 310 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 37002620 37002620 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr20:37002620G>A uc002xic.1 + 13 1399 c.1364G>A c.(1363-1365)cGt>cAt p.R455H NM_004139 NP_004130 P18428 LBP_HUMAN Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. 455 Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CTGCTGAAGCGTGTTCAGCTC 0.488000 28 79 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114137161 114137161 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr1:114137161C>A uc001edk.3 + 5 1178 c.997C>A c.(997-999)Cct>Act p.P333T MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 333 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCCAAAGCCCCTGAAGACTG 0.368000 4 115 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863519 128863519 + Missense_Mutation SNP A A T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr5:128863519A>T uc003kvb.1 + 4 1147 c.1147A>T c.(1147-1149)Act>Tct p.T383S ADAMTS19_uc003kvc.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCTCCATGAAACTCCAGTAAG 0.308000 48 79 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116839008 116839008 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr9:116839008A>C uc004bie.4 - 1 393 c.130T>G c.(130-132)Tgg>Ggg p.W44G AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript NM_001633 NP_001624 P02760 AMBP_HUMAN Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA. 44 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage extracellular region|plasma membrane IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGGTTGTACCACTTCCCATAG 0.597000 19 49 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121708835 121708835 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr2:121708835G>A uc010flp.3 + 2 301 c.271G>A c.(271-273)Ggc>Agc p.G91S GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 91 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGCCCTCAGCGGCAGCCCTGT 0.632000 6 194 0 0 1 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679970 75679970 + RNA SNP G G T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr3:75679970G>T uc021xar.1 + 0 c.57G>T Homo sapiens microRNA 1324 (MIR1324), microRNA. CTTCCCTCTGGGTACCAGACA 0.507000 7 120 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50779760 50779760 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr2:50779760C>A uc021vhg.1 - 8 2765 c.1844G>T c.(1843-1845)tGg>tTg p.W615L NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript NM_001135659 NP_001129131 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA. 575 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACATGATACCATTCTCCATC 0.463000 5 155 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880307 100880307 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrX:100880307C>A uc004ehz.1 + 4 871 c.338C>A c.(337-339)tCa>tAa p.S113* ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113* NM_016607 NP_808817 Q9UH62 ARMX3_HUMAN Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA. 113 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TCCCCCAATTCAGATGATACC 0.527000 13 108 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681033 100681033 + Silent SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr7:100681033G>A uc003uxp.1 + 2 6389 c.6336G>A c.(6334-6336)acG>acA p.T2112T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2112 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCGGTGGCCA 0.498000 6 436 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24446031 24446031 + Nonsense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr6:24446031C>A uc003ned.1 - 18 1960 c.1849G>T c.(1849-1851)Gag>Tag p.E617* NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 617 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCTTTTTCTCATCTCGGATG 0.532000 4 105 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32698958 32698958 + Missense_Mutation SNP T T C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr13:32698958T>C uc001utx.3 + 6 1158 c.662T>C c.(661-663)aTg>aCg p.M221T FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTGGCAATATGCATATTGTG 0.438000 5 201 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111870032 111870032 + Missense_Mutation SNP A A G TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr13:111870032A>G uc001vrs.2 + 5 788 c.538A>G c.(538-540)Acc>Gcc p.T180A ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 180 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTAGGACATGACCGATAATAG 0.378000 3 63 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336139 124336139 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr10:124336139C>T uc001lgk.1 + 6 614 c.508C>T c.(508-510)Cgc>Tgc p.R170C DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 170 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGATGATGTGCGCTGCTCAGG 0.587000 5 217 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875408 21875408 + Missense_Mutation SNP C C T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chrX:21875408C>T uc011mjp.2 + 0 1304 c.806C>T c.(805-807)gCc>gTc p.A269V MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN Homo sapiens YY2 transcription factor (YY2), mRNA. 269 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGGGATTACGCCGCCATGAGA 0.498000 5 310 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 37002620 37002620 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr20:37002620G>A uc002xic.1 + 13 1399 c.1364G>A c.(1363-1365)cGt>cAt p.R455H NM_004139 NP_004130 P18428 LBP_HUMAN Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. 455 Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CTGCTGAAGCGTGTTCAGCTC 0.488000 28 79 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114137161 114137161 + Missense_Mutation SNP C C A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr1:114137161C>A uc001edk.3 + 5 1178 c.997C>A c.(997-999)Cct>Act p.P333T MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 333 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCCAAAGCCCCTGAAGACTG 0.368000 4 115 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863519 128863519 + Missense_Mutation SNP A A T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr5:128863519A>T uc003kvb.1 + 4 1147 c.1147A>T c.(1147-1149)Act>Tct p.T383S ADAMTS19_uc003kvc.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 383 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCTCCATGAAACTCCAGTAAG 0.308000 48 79 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116839008 116839008 + Missense_Mutation SNP A A C TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr9:116839008A>C uc004bie.4 - 1 393 c.130T>G c.(130-132)Tgg>Ggg p.W44G AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript NM_001633 NP_001624 P02760 AMBP_HUMAN Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA. 44 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage extracellular region|plasma membrane IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGGTTGTACCACTTCCCATAG 0.597000 19 49 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121708835 121708835 + Missense_Mutation SNP G G A TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr2:121708835G>A uc010flp.3 + 2 301 c.271G>A c.(271-273)Ggc>Agc p.G91S GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 91 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGCCCTCAGCGGCAGCCCTGT 0.632000 6 194 0 0 1 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679970 75679970 + RNA SNP G G T TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-11A-21D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 7511fac0-79c5-480b-a717-3df40b4310bc g.chr3:75679970G>T uc021xar.1 + 0 c.57G>T Homo sapiens microRNA 1324 (MIR1324), microRNA. CTTCCCTCTGGGTACCAGACA 0.507000 7 120 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106989150 106989150 + Frame_Shift_Del DEL G G - TCGA-EM-A1CS-01A-11D-A13W-08 TCGA-EM-A1CS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 645f8020-f9c7-407b-b3d4-149b956964a7 f1a11253-4f1b-42db-a81c-3979b7791777 g.chr6:106989150delG uc003pri.3 + 0 142 c.13delG c.(13-15)ggafs p.G5fs AIM1_uc003prh.3_Intron NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 0 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) gtcagctcttggaactgcttt 0.438 2 4 --- --- --- ---