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 C9orf86 55684 broad.mit.edu 37 9 139733836 139733836 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr9:139733836G>A uc004cjj.1 + 11 2116 c.1659G>A c.(1657-1659)tcG>tcA p.S553S C9orf86_uc004cji.1_Silent_p.S552S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.S437S|C9orf86_uc004cjn.1_Silent_p.S346S NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 552 small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) AGGCCTCCTCGTCGGAGAGTG 0.642000 6 32 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170628369 170628369 + Nonsense_Mutation SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr4:170628369C>T uc003ish.3 + 10 2660 c.2101C>T c.(2101-2103)Cag>Tag p.Q701* CLCN3_uc003isi.3_Nonsense_Mutation_p.Q701*|CLCN3_uc011cka.2_Nonsense_Mutation_p.Q674*|CLCN3_uc011cjz.2_Nonsense_Mutation_p.Q684*|CLCN3_uc003isj.2_Nonsense_Mutation_p.Q674* NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 701 CBS 1. endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AAAAGAATCTCAGAGATTAGT 0.358000 47 154 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44172022 44172022 + Silent SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr12:44172022C>T uc001rnu.3 + 8 988 c.858C>T c.(856-858)caC>caT p.H286H IRAK4_uc001rnt.3_Silent_p.H286H|IRAK4_uc001rnx.3_Silent_p.H162H|IRAK4_uc001rny.3_Silent_p.H162H|IRAK4_uc010sky.1_Silent_p.H162H|IRAK4_uc001rnv.3_Silent_p.H162H|IRAK4_uc001rnw.3_Silent_p.H162H NM_001114182 NP_001138730 Q9NWZ3 IRAK4_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA. 286 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TTTCTTGGCACATGAGATGCA 0.303000 25 73 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850220 3850220 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr6:3850220G>A uc003mvu.3 + 1 287 c.175G>A c.(175-177)Gag>Aag p.E59K FAM50B_uc021ykt.1_Missense_Mutation_p.E59K NM_012135 NP_036267 Q9Y247 FA50B_HUMAN Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA. 59 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) CGTGGAGGCCGAGCTGAAGTC 0.662000 15 30 0 0 1 0 0 FADS6 283985 broad.mit.edu 37 17 72874555 72874555 + Missense_Mutation SNP C C T rs145096183 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:72874555C>T uc002jmd.1 - 5 970 c.958G>A c.(958-960)Gag>Aag p.E320K FADS6_uc010wrn.1_Missense_Mutation_p.E174K NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA. 326 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) TATGAGTCCTCGTTGTACGGT 0.587000 20 65 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741469 164741469 + Silent SNP T T A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr3:164741469T>A uc003fei.3 - 25 3051 c.2988A>T c.(2986-2988)acA>acT p.T996T NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 996 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGAGGTCAGCTGTTATACCCA 0.403000 HNSCC(35;0.089) 29 75 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395057 154395057 + Silent SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr5:154395057C>T uc010jih.1 + 0 1798 c.1638C>T c.(1636-1638)aaC>aaT p.N546N NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 546 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGACTCAGAACGACAACCAAC 0.418000 22 50 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262699 45262699 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr5:45262699G>A uc003jok.3 - 7 2022 c.1997C>T c.(1996-1998)cCg>cTg p.P666L NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 666 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGTGTACACCGGTGGAGATTG 0.577000 4 103 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47611021 47611021 + Nonsense_Mutation SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr20:47611021C>T uc002xtx.4 + 21 3159 c.3007C>T c.(3007-3009)Cag>Tag p.Q1003* ARFGEF2_uc010zyf.2_Nonsense_Mutation_p.Q296* NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1003 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity p.Q1003E(2) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGAGCTCGCTCAGCTGATAGG 0.493000 20 66 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209906 10209906 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:10209906G>A uc002gmk.1 - 36 5426 c.5336C>T c.(5335-5337)aCc>aTc p.T1779I NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1779 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTGGGCGCTGGTGTCCTGTTC 0.592000 26 129 0 0 1 0 0 GALNTL1 57452 broad.mit.edu 37 14 69795278 69795278 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:69795278G>A uc001xlb.2 + 5 1007 c.680G>A c.(679-681)cGg>cAg p.R227Q GALNTL1_uc001xla.2_Missense_Mutation_p.R227Q|GALNTL1_uc010aqu.2_Missense_Mutation_p.R227Q NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 227 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) ATGCTGCAGCGGGTGAAGGAG 0.622000 24 62 0 0 1 0 0 ARRB1 408 broad.mit.edu 37 11 74979939 74979939 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr11:74979939G>A uc001owe.2 - 13 1311 c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W ARRB1_uc001owf.2_Missense_Mutation_p.R355W NM_004041 NP_004032 P49407 ARRB1_HUMAN Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA. 363 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding p.T362R(2) breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 TCACCTTCCCGATGCGGGGGT 0.627000 49 108 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13068880 13068880 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr18:13068880G>A uc010xac.2 + 24 4932 c.4852G>A c.(4852-4854)Gca>Aca p.A1618T CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A1143T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.A40T NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1213 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGAATTCTCGGCAAAAGTTGA 0.438000 4 156 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72692351 72692351 + Missense_Mutation SNP C C T rs149416788 TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:72692351C>T uc010wra.2 - 4 713 c.610G>A c.(610-612)Ggg>Agg p.G204R RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G192R|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlg.3_Missense_Mutation_p.G189R|CD300LF_uc002jlh.3_Missense_Mutation_p.R204Q|CD300LF_uc002jli.3_Missense_Mutation_p.R154Q|CD300LF_uc002jlj.1_Intron NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA. 189 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGGGACATCCCGGCTGCTAAA 0.493000 5 211 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51054695 51054695 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:51054695G>A uc021rsw.1 + 1 422 c.181G>A c.(181-183)Gct>Act p.A61T ATL1_uc001wyd.4_Missense_Mutation_p.A61T|ATL1_uc001wyf.4_Missense_Mutation_p.A61T|ATL1_uc001wye.4_Missense_Mutation_p.A61T|ATL1_uc021rsx.1_Missense_Mutation_p.A61T NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA. 61 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 TCTCTCGGAGGCTGTCAGAGA 0.433000 6 278 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64678781 64678781 + Missense_Mutation SNP G G C TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:64678781G>C uc001xgl.3 + 103 19056 c.18826G>C c.(18826-18828)Gag>Cag p.E6276Q SYNE2_uc001xgm.3_Missense_Mutation_p.E6276Q|SYNE2_uc010apy.3_Missense_Mutation_p.E2661Q|SYNE2_uc001xgn.3_Missense_Mutation_p.E1238Q|SYNE2_uc021rui.1_Missense_Mutation_p.E1280Q|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E246Q|SYNE2_uc001xgq.3_Missense_Mutation_p.E641Q|SYNE2_uc001xgr.3_Missense_Mutation_p.E59Q|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6276 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCACTTCTCAGAGAGTGACGC 0.542000 4 197 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101592002 101592002 + Silent SNP C C T rs140730823 byFrequency TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr2:101592002C>T uc010yvt.1 + 13 1562 c.1560C>T c.(1558-1560)ccC>ccT p.P520P NPAS2_uc002tap.1_Silent_p.P455P|NPAS2_uc010fit.1_Silent_p.P33P NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 455 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TACCTGTCCCCGGGCTCAGCC 0.612000 6 256 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99161131 99161131 + Missense_Mutation SNP G G T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr1:99161131G>T uc010ouc.2 + 4 749 c.697G>T c.(697-699)Gtc>Ttc p.V233F SNX7_uc001dsa.3_Missense_Mutation_p.V169F|SNX7_uc010oud.2_Missense_Mutation_p.V178F NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA. 169 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) GGGGCAAACCGTCAGAGCTGT 0.403000 33 75 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46563027 46563027 + Missense_Mutation SNP T T C TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr13:46563027T>C uc010tfw.1 - 7 1156 c.1150A>G c.(1150-1152)Aga>Gga p.R384G ZC3H13_uc001vas.1_Missense_Mutation_p.R384G|ZC3H13_uc001vat.1_Missense_Mutation_p.R384G NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 384 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTCTGCTTTCTCTGGGGAGAC 0.483000 5 56 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120589045 120589045 + Missense_Mutation SNP C C G TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr12:120589045C>G uc001txo.3 - 33 4226 c.4213G>C c.(4213-4215)Gtg>Ctg p.V1405L NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1405 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCCCTTCACCAGGCCCGCC 0.602000 5 98 0 0 1 0 0 C1orf216 127703 broad.mit.edu 37 1 36181503 36181503 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr1:36181503G>A uc001bzh.1 - 1 908 c.420C>T c.(418-420)ccC>ccT p.P140P C1orf216_uc021oli.1_Silent_p.P140P NM_152374 NP_689587 Q8TAB5 CA216_HUMAN Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA. 140 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GAAGGGGATCGGGAGGGCCAG 0.617000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 198 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153363113 153363113 + Frame_Shift_Del DEL C C - TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chrX:153363113delC uc004fjw.2 - 0 76 c.10delG c.(10-12)gccfs p.A4fs MECP2_uc004fjv.2_5'UTR NM_001110792 NP_001104262 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA. 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) gcggcggcggcggcggcCATT 0.776 2 4 --- --- --- ---