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 CDHR1 92211 broad.mit.edu 37 10 85972879 85972879 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr10:85972879C>T uc001kcv.3 + 15 1920 c.1815C>T c.(1813-1815)aaC>aaT p.N605N CDHR1_uc001kcw.3_Silent_p.N605N|CDHR1_uc009xst.3_Silent_p.N309N|CDHR1_uc001kcx.3_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA. 605 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 AACCCAACAACCTGGTGGACT 0.557000 60 59 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133917103 133917103 + Nonsense_Mutation SNP G G T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr9:133917103G>T uc004caa.1 + 6 1461 c.1363G>T c.(1363-1365)Gaa>Taa p.E455* NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 455 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGAGAATGTGGAAGGCAACCT 0.582000 13 43 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30734812 30734812 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:30734812G>A uc003ahl.3 - 10 1841 c.1709C>T c.(1708-1710)gCt>gTt p.A570V SF3A1_uc021wnt.1_Missense_Mutation_p.A505V NM_005877 NP_005868 Q15459 SF3A1_HUMAN Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA. 570 nuclear mRNA 3'-splice site recognition U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GATGGGTGGAGCCGAGCTGGG 0.542000 95 102 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90103675 90103675 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr16:90103675C>T uc002fqi.1 + 6 914 c.792C>T c.(790-792)caC>caT p.H264H GAS8_uc010vps.1_Silent_p.H239H|GAS8_uc002fqh.2_Silent_p.H181H|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Silent_p.H235H|GAS8_uc010cjc.1_Silent_p.H181H|GAS8_uc010vpw.1_Silent_p.H181H|GAS8_uc002fqj.1_Silent_p.H72H NM_001481 NP_001472 O95995 GAS8_HUMAN Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA. 264 negative regulation of cell proliferation|sperm motility Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AGGAGGACCACCTGGAGAGGG 0.627000 4 21 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033056 30033056 + Nonsense_Mutation SNP G G T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:30033056G>T uc001msk.3 - 1 2411 c.1170C>A c.(1168-1170)tgC>tgA p.C390* KCNA4_uc021qfi.1_Nonsense_Mutation_p.C390* NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 390 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GACAAGCAAAGCAGCGAACCA 0.448000 47 73 0 0 1 0 0 MOB3B 79817 broad.mit.edu 37 9 27359236 27359236 + Splice_Site SNP T T C TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr9:27359236T>C uc003zqn.3 - 3 915 c.419_splice c.e3-1 p.G140_splice NM_024761 NP_079037 Q86TA1 MOL2B_HUMAN Homo sapiens MOB kinase activator 3B (MOB3B), mRNA. 140 metal ion binding|protein binding AGGGAACACCTAGAGAAGAAA 0.453000 59 71 0 0 1 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785212 149785212 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:149785212G>A uc010pbl.2 - 0 25 c.25C>T c.(25-27)Cgc>Tgc p.R9C HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA. 9 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding p.A8V(1)|p.A8A(1) biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 GTCGACTTGCGGGCAGTCTGC 0.602000 37 49 0 0 1 0 0 C6orf47 57827 broad.mit.edu 37 6 31627090 31627090 + Missense_Mutation SNP C C A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:31627090C>A uc003nvm.1 - 0 1460 c.635G>T c.(634-636)cGt>cTt p.R212L NM_021184 NP_067007 O95873 CF047_HUMAN Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA. 212 NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 CAGCGGTCCACGCAGGCCCAG 0.637000 45 34 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183397022 183397022 + Missense_Mutation SNP A A G rs143529905 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr3:183397022A>G uc003flv.3 + 7 2046 c.1751A>G c.(1750-1752)tAt>tGt p.Y584C KLHL24_uc003flw.3_Missense_Mutation_p.Y584C NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 584 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CCAGTGTCCTATCATGGCTGT 0.463000 33 36 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324743 86324743 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:86324743C>T uc003pla.2 - 10 2144 c.1603G>A c.(1603-1605)Gtt>Att p.V535I SYNCRIP_uc003pku.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkv.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkw.3_Missense_Mutation_p.V500I|SYNCRIP_uc003pkx.3_Missense_Mutation_p.V383I|SYNCRIP_uc003pky.3_Missense_Mutation_p.V437I|SYNCRIP_uc003pkz.2_Missense_Mutation_p.V500I NM_006372 NP_006363 O60506 HNRPQ_HUMAN Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA. 535 8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN. CRD-mediated mRNA stabilization|interspecies interaction between organisms CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding p.G534S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GCACCTCGAACGCCTCTTGCT 0.627000 39 177 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164144 4164144 + Missense_Mutation SNP T T G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr16:4164144T>G uc002cvx.3 - 1 1839 c.1300A>C c.(1300-1302)Aag>Cag p.K434Q NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 434 Guanylate cyclase 1. 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 ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTCTCACACTTGGTCTCCTCA 0.612000 6 136 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 116 172 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35761712 35761712 + Missense_Mutation SNP C C A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr14:35761712C>A uc001wtd.3 + 0 139 c.30C>A c.(28-30)gaC>gaA p.D10E KIAA0391_uc001wta.3_Intron|PSMA6_uc010tpt.2_5'UTR|PSMA6_uc010tpu.2_5'UTR NM_002791 NP_002782 P60900 PSA6_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA. 10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CCGGTTTTGACCGCCACATTA 0.562000 9 115 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72457708 72457708 + Missense_Mutation SNP T T G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr15:72457708T>G uc002atq.3 - 7 611 c.587A>C c.(586-588)gAa>gCa p.E196A GRAMD2_uc010bis.2_Missense_Mutation_p.E196A|GRAMD2_uc010ukh.2_5'Flank NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 196 integral to membrane p.G195V(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 AGACTCAGGTTCCCCTGAAAA 0.552000 7 118 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577600 92577600 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:92577600C>T uc001pdj.4 + 17 11084 c.11067C>T c.(11065-11067)agC>agT p.S3689S FAT3_uc001pdi.4_Silent_p.S129S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3689 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCATCATCAGCATCCAGCCCG 0.602000 TCGA Ovarian(4;0.039) 16 24 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294829 109294829 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:109294829C>T uc010rwb.2 + 1 873 c.470C>T c.(469-471)cCg>cTg p.P157L C11orf87_uc021qqf.1_Missense_Mutation_p.P157L NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA. 157 integral to membrane p.P157R(2) breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCTGGCCTCCCGTGCCAGGGT 0.672000 48 55 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13307860 13307860 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:13307860C>T uc003naj.3 - 5 745 c.637G>A c.(637-639)Gga>Aga p.G213R TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.G213R|TBC1D7_uc003nan.3_Missense_Mutation_p.G213R|TBC1D7_uc003nam.3_Missense_Mutation_p.G213R|TBC1D7_uc003nao.3_Missense_Mutation_p.G186R|TBC1D7_uc010jpd.3_Missense_Mutation_p.G167R NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA. 213 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle Rab GTPase activator activity|protein binding breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) GGCAAACATCCCGCAAAGCAC 0.483000 40 56 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19969230 19969230 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:19969230G>A uc002zqz.3 - 4 670 c.400C>T c.(400-402)Cgg>Tgg p.R134W ARVCF_uc002zqy.3_5'Flank NM_001670 NP_001661 O00192 ARVC_HUMAN Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA. 134 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CGTACTGTCCGAGTGGTCACC 0.622000 38 58 0 0 1 0 0 WBP1 23559 broad.mit.edu 37 2 74685770 74685770 + Frame_Shift_Del DEL G G - TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr2:74685770delG uc002slj.2 + 0 244 c.41delG c.(40-42)tggfs p.W14fs INO80B_uc002sli.2_Intron|WBP1_uc002sll.2_Non-coding_Transcript NM_012477 NP_036609 Q96G27 WBP1_HUMAN Homo sapiens WW domain binding protein 1 (WBP1), mRNA. 14 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GAGGAGGCCTGGGGGGCACTT 0.632 2 4 --- --- --- ---