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 APOB 338 broad.mit.edu 37 2 21230694 21230694 + Nonsense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:21230694C>A uc002red.3 - 25 9174 c.9046G>T c.(9046-9048)Gag>Tag p.E3016* NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3016 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGTAAACTCTGCCTTCCCT 0.423000 20 46 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209302540 209302540 + Missense_Mutation SNP A A C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:209302540A>C uc010zjb.2 + 3 664 c.378A>C c.(376-378)ttA>ttC p.L126F PTH2R_uc002vdb.3_Missense_Mutation_p.L115F NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 115 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGCACAGCTTAAATAAAACAT 0.413000 8 53 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455611 50455611 + Silent SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr19:50455611G>A uc010ybh.2 - 8 1783 c.1692C>T c.(1690-1692)gcC>gcT p.A564A SIGLEC11_uc010ybi.2_Silent_p.A468A NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 564 cell adhesion integral to membrane sugar binding p.F563F(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGCTCCCAGGGCAGCCCCCA 0.657000 27 36 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830243 13830243 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr20:13830243G>A uc010gcf.3 - 19 2037 c.1955C>T c.(1954-1956)aCg>aTg p.T652M SEL1L2_uc002woq.4_Missense_Mutation_p.T513M|SEL1L2_uc010zrl.2_Missense_Mutation_p.T539M|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 652 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GTTCCATCTCGTTGTGAACTG 0.483000 11 37 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911988 100911988 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:100911988C>A uc004eid.2 - 2 942 c.587G>T c.(586-588)gGt>gTt p.G196V ARMCX2_uc010nnt.2_Missense_Mutation_p.G196V|ARMCX2_uc004eie.3_Missense_Mutation_p.G196V|ARMCX2_uc004eif.3_Missense_Mutation_p.G196V|ARMCX2_uc004eig.3_Missense_Mutation_p.G196V|ARMCX2_uc022caq.1_Missense_Mutation_p.G196V NM_177949 NP_808818 Q7L311 ARMX2_HUMAN Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA. 196 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TACCCCAGGACCCTCGGTCAC 0.662000 19 34 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968615 106968615 + Missense_Mutation SNP A A T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr6:106968615A>T uc003prh.3 + 1 3220 c.2308A>T c.(2308-2310)Atg>Ttg p.M770L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 770 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) TTTACATTTGATGCAGAACCT 0.453000 38 47 0 0 1 0 0 CNIH4 29097 broad.mit.edu 37 1 224544627 224544627 + Missense_Mutation SNP A A T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:224544627A>T uc001hom.1 + 0 33 c.1A>T c.(1-3)Atg>Ttg p.M1L CNIH4_uc001hon.1_Non-coding_Transcript NM_014184 NP_054903 Q9P003 CNIH4_HUMAN Homo sapiens cornichon homolog 4 (Drosophila) (CNIH4), mRNA. 1 intracellular signal transduction endoplasmic reticulum|integral to membrane protein binding kidney(3)|lung(2)|ovary(2) 7 GBM - Glioblastoma multiforme(131;0.00341) GAGGAGGAGGATGGAGGCGGT 0.647000 3 1 0 0 1 0 0 KIAA1967 57805 broad.mit.edu 37 8 22476665 22476665 + Nonsense_Mutation SNP G G T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:22476665G>T uc003xch.3 + 19 2773 c.2524G>T c.(2524-2526)Gag>Tag p.E842* KIAA1967_uc003xci.3_Nonsense_Mutation_p.E842*|KIAA1967_uc003xcj.1_Nonsense_Mutation_p.E511* NM_021174 NP_066997 Q8N163 K1967_HUMAN Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA. 842 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCTTGCAGAGGAGAGCCATAA 0.617000 5 15 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892719 205892719 + Missense_Mutation SNP G G C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:205892719G>C uc001hdp.3 - 13 1633 c.1519C>G c.(1519-1521)Cag>Gag p.Q507E SLC26A9_uc001hdo.3_Missense_Mutation_p.Q175E|SLC26A9_uc001hdq.3_Missense_Mutation_p.Q507E NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 507 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.Q507K(2) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TCCATGACCTGGGCCAGTGCA 0.493000 16 28 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137886109 137886109 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr3:137886109C>A uc003erv.3 - 4 682 c.528G>T c.(526-528)tgG>tgT p.W176C DBR1_uc003eru.3_Missense_Mutation_p.W125C NM_016216 NP_057300 Q9UK59 DBR1_HUMAN Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA. 176 nucleus RNA lariat debranching enzyme activity|metal ion binding NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TACTTCTTGGCCAATCATGAG 0.328000 3 34 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52339273 52339273 + Missense_Mutation SNP A A G TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:52339273A>G uc003xqu.4 - 12 1672 c.1571T>C c.(1570-1572)gTt>gCt p.V524A NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 524 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATTCTTTCCAACCTCGACACT 0.338000 3 5 0 0 1 0 0 CXorf65 158830 broad.mit.edu 37 X 70324246 70324246 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:70324246G>A uc011mpo.2 - 4 560 c.328C>T c.(328-330)Cgc>Tgc p.R110C CXorf65_uc011mpp.2_Missense_Mutation_p.R62C NM_001025265 NP_001020436 A6NEN9 CX065_HUMAN Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA. 110 p.L109P(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3) 10 CATTGTATGCGCAGTGCAACT 0.478000 3 16 0 0 1 0 0 C11orf70 85016 broad.mit.edu 37 11 101951999 101951999 + Missense_Mutation SNP A A C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr11:101951999A>C uc001pgp.3 + 5 695 c.662A>C c.(661-663)aAa>aCa p.K221T C11orf70_uc001pgq.3_Missense_Mutation_p.K183T NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 221 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TCTGTCTTTAAAGTTTCAGCT 0.313000 10 29 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718725 2718725 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr9:2718725G>A uc003zho.2 + 0 1200 c.986G>A c.(985-987)cGc>cAc p.R329H NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA. 329 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GACCTGAGGCGCTTCGCGCGC 0.672000 16 37 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153593301 153593301 + Silent SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:153593301G>A uc004fkk.2 - 11 1965 c.1716C>T c.(1714-1716)acC>acT p.T572T FLNA_uc010nuu.1_Silent_p.T572T NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 572 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCACACTCGGTGCCCACCT 0.642000 7 156 0 0 1 0 0 ZNF467 168544 broad.mit.edu 37 7 149463284 149463284 + Nonsense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:149463284G>A uc003wgd.2 - 4 448 c.307C>T c.(307-309)Cag>Tag p.Q103* ZNF467_uc003wgc.3_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN Homo sapiens zinc finger protein 467 (ZNF467), mRNA. 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCTGCCTCCTGATCTTCGTCC 0.542000 19 28 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32087441 32087441 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr5:32087441C>A uc003jhl.3 + 19 4275 c.3887C>A c.(3886-3888)gCa>gAa p.A1296E PDZD2_uc003jhm.3_Missense_Mutation_p.A1296E NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1296 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGGAGAAAGCAGCGGCTCCC 0.652000 26 55 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44336175 44336175 + Missense_Mutation SNP C C T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr6:44336175C>T uc021yzz.1 + 5 735 c.634C>T c.(634-636)Cca>Tca p.P212S TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.P97S|SPATS1_uc003oxk.3_Missense_Mutation_p.P212S NM_145026 NP_659463 Q496A3 SPAS1_HUMAN Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA. 212 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATATATGTACCCAGAACAGAG 0.378000 11 47 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27856087 27856087 + Missense_Mutation SNP T T A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:27856087T>A uc003szl.3 + 13 2066 c.1884T>A c.(1882-1884)aaT>aaA p.N628K TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA. 628 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) CATTGTCAAATGCACAACCAG 0.378000 37 73 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 465847 465847 + Silent SNP T T C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr17:465847T>C uc010cjo.2 - 13 1599 c.1452A>G c.(1450-1452)caA>caG p.Q484Q VPS53_uc002frk.3_Silent_p.Q3Q|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Silent_p.Q455Q|VPS53_uc002frn.2_Silent_p.Q484Q|VPS53_uc002fro.2_Silent_p.Q286Q|VPS53_uc010cjp.1_Silent_p.Q207Q NM_001128159 NP_001121631 Q5VIR6 VPS53_HUMAN Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA. 484 protein transport Golgi apparatus|endosome membrane breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GCTGAGAGCATTGCACCATGC 0.567000 6 59 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 20 44 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994984 144994984 + Missense_Mutation SNP C C T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:144994984C>T uc003zaf.1 - 31 9586 c.9416G>A c.(9415-9417)cGa>cAa p.R3139Q PLEC_uc003zab.1_Missense_Mutation_p.R3002Q|PLEC_uc003zac.1_Missense_Mutation_p.R3006Q|PLEC_uc003zad.2_Missense_Mutation_p.R3002Q|PLEC_uc003zae.1_Missense_Mutation_p.R2970Q|PLEC_uc003zag.1_Missense_Mutation_p.R2980Q|PLEC_uc003zah.2_Missense_Mutation_p.R2988Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3029Q NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3139 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGCTCACCTCGCTGCAGCTG 0.687000 19 23 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198098 101198098 + Silent SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:101198098C>A uc001dti.3 + 6 1871 c.1650C>A c.(1648-1650)ctC>ctA p.L550L VCAM1_uc010ouj.2_Silent_p.L488L|VCAM1_uc001dtj.3_Silent_p.L458L NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 550 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.Q549K(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GCAGGCAGCTCCCTAACGGGG 0.478000 8 56 0 0 1 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150581 132150581 + Frame_Shift_Del DEL A A - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr5:132150581delA uc003kxw.3 + 0 1549 c.1268delA c.(1267-1269)tacfs p.Y423fs NM_175873 NP_787069 Q2M3V2 ANR43_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA. 423 CGTCGCGCCTACCAGTACCTG 0.701 2 4 --- --- --- --- LOC100132247 100132247 broad.mit.edu 37 16 22545452 22545454 + In_Frame_Del DEL ATA ATA - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr16:22545452_22545454delATA uc010bxg.3 + 8 1330_1332 c.1148_1150delATA c.(1147-1152)gataat>gat p.N384del LOC100132247_uc010vbv.2_In_Frame_Del_p.N384del|LOC100132247_uc021tew.1_In_Frame_Del_p.N384del|LOC100132247_uc010bxi.3_In_Frame_Del_p.N365del|LOC100132247_uc010bxk.3_In_Frame_Del_p.N201del NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. TCAGCGGATGATAATCTCAAGAC 0.576 3 5 --- --- --- ---