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 NOL6 65083 broad.mit.edu 37 9 33468782 33468782 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr9:33468782T>C uc003zsz.3 - 7 1216 c.1115A>G c.(1114-1116)tAc>tGc p.Y372C NOL6_uc003zta.3_Missense_Mutation_p.Y372C|NOL6_uc010mjv.3_Missense_Mutation_p.Y372C|NOL6_uc011lob.2_Missense_Mutation_p.Y312C|NOL6_uc003ztb.1_Missense_Mutation_p.Y372C NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 372 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGGACCTGGTAGCCACTCAT 0.547000 4 314 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93650551 93650551 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:93650551T>C uc001ybj.3 - 2 407 c.37A>G c.(37-39)Atg>Gtg p.M13V MOAP1_uc021saw.1_Missense_Mutation_p.M13V|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA. 13 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) ttcatgtccatccccctgcac 0.507000 3 149 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179997121 179997121 + Silent SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:179997121T>C uc002uni.4 - 9 1032 c.882A>G c.(880-882)gaA>gaG p.E294E NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 294 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CTCTTAGTTGTTCTGATCCAG 0.443000 4 142 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10406153 10406153 + Missense_Mutation SNP C C T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr17:10406153C>T uc002gmo.3 - 23 3107 c.3013G>A c.(3013-3015)Gag>Aag p.E1005K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1005 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGTGGGCCTCCTGGAGAGCC 0.498000 11 127 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805631 54805631 + Nonsense_Mutation SNP C C A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:54805631C>A uc003pck.3 + 4 1978 c.1862C>A c.(1861-1863)tCa>tAa p.S621* NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 621 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GAAAACCACTCAGTAGCCTTA 0.398000 3 54 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828540 23828540 + Missense_Mutation SNP A A G rs147833862 TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:23828540A>G uc001wjo.3 - 3 1755 c.1147T>C c.(1147-1149)Tat>Cat p.Y383H EFS_uc001wjp.3_Missense_Mutation_p.Y290H|EFS_uc010tnm.2_Missense_Mutation_p.Y214H NM_005864 NP_005855 O43281 EFS_HUMAN Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. 383 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGGTGGACATAGTCATACTCC 0.637000 3 184 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175437077 175437077 + Silent SNP C C T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:175437077C>T uc010fqt.1 - 4 620 c.456G>A c.(454-456)gtG>gtA p.V152V BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.V152V|WIPF1_uc002ujc.1_Silent_p.V152V|WIPF1_uc002uiz.3_Silent_p.V152V|WIPF1_uc002ujb.2_Silent_p.V152V|WIPF1_uc010zep.1_Silent_p.V152V NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 152 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CTGGAGAAGGCACAGGAAACC 0.602000 6 42 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131521451 131521451 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:131521451G>A uc002trw.2 + 1 1996 c.1806G>A c.(1804-1806)gaG>gaA p.E602E FAM123C_uc010fmv.2_Silent_p.E602E|FAM123C_uc010fms.1_Silent_p.E602E|FAM123C_uc010fmt.1_Silent_p.E602E|FAM123C_uc010fmu.1_Silent_p.E602E|FAM123C_uc021voy.1_Silent_p.E602E NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 602 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCTCTCGAGAGGAAGAGACAC 0.592000 3 86 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151196719 151196719 + Splice_Site SNP A A G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:151196719A>G uc001exj.3 + 2 538 c.86_splice c.e2-2 p.A29_splice PIP5K1A_uc021oyo.1_Splice_Site_p.A29_splice|PIP5K1A_uc001exi.3_Intron|PIP5K1A_uc010pcu.2_Splice_Site_p.A29_splice|PIP5K1A_uc001exk.3_Intron NM_001135638 NP_001129110 Q99755 PI51A_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA. 29 phospholipid biosynthetic process|signal transduction Golgi stack|endomembrane system|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TTTCCCCCCTAGCAGCATCTG 0.383000 3 126 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967097 41967097 + Missense_Mutation SNP G G T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr12:41967097G>T uc010skn.2 + 9 2524 c.2516G>T c.(2515-2517)aGa>aTa p.R839I PDZRN4_uc001rmq.4_Missense_Mutation_p.R581I|PDZRN4_uc009zjz.3_Missense_Mutation_p.R579I|PDZRN4_uc001rmr.3_Missense_Mutation_p.R466I NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 839 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCCTCATATAGATATGCAAAC 0.473000 14 171 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155932417 155932417 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:155932417G>A uc001fmu.2 - 12 1455 c.1200C>T c.(1198-1200)taC>taT p.Y400Y ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 356 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGTCTCGGGCGTACAGCTCCT 0.557000 3 68 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430333 12430333 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr19:12430333T>C uc002mtp.3 - 3 744 c.506A>G c.(505-507)tAt>tGt p.Y169C ZNF563_uc002mtq.2_Missense_Mutation_p.Y169C NM_145276 NP_660319 Q8TA94 ZN563_HUMAN Homo sapiens zinc finger protein 563 (ZNF563), mRNA. 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTTACACTCATAGCGTTTCTT 0.433000 43 82 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133065566 133065566 + Missense_Mutation SNP A A G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:133065566A>G uc003qdt.3 - 6 1447 c.1436T>C c.(1435-1437)cTc>cCc p.L479P VNN2_uc003qds.3_Missense_Mutation_p.L188P|VNN2_uc010kgb.3_Missense_Mutation_p.L258P|VNN2_uc003qdv.3_Missense_Mutation_p.L426P NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 479 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCTCCCAAAGAGTGACACTGT 0.403000 50 51 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11149659 11149659 + Silent SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr12:11149659T>C uc001qzm.2 - 0 816 c.816A>G c.(814-816)ccA>ccG p.P272P PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA. 272 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 AGTGGAATGATGGATATATGA 0.393000 7 93 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151377730 151377730 + Missense_Mutation SNP T T A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:151377730T>A uc001eyd.2 - 18 4096 c.3781A>T c.(3781-3783)Att>Ttt p.I1261F POGZ_uc021oyq.1_Missense_Mutation_p.I1208F|POGZ_uc010pdb.2_Missense_Mutation_p.I1252F|POGZ_uc010pdc.2_Missense_Mutation_p.I1199F|POGZ_uc009wmv.2_Missense_Mutation_p.I1166F|POGZ_uc001eyf.2_Missense_Mutation_p.I1217F|POGZ_uc010pdd.2_Missense_Mutation_p.I752F NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA. 1261 DDE. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AATGGCTGAATTTTGGAGCTA 0.468000 8 192 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60695172 60695172 + Silent SNP C C G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr11:60695172C>G uc001nqi.3 + 2 568 c.375C>G c.(373-375)gcC>gcG p.A125A TMEM132A_uc001nqj.3_Silent_p.A125A|TMEM132A_uc001nqk.3_Silent_p.A138A|TMEM132A_uc001nql.1_Silent_p.A138A NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 125 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ACGTGCGGGCCGTTTCAGTGG 0.632000 13 132 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48271724 48271724 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr17:48271724G>A uc002iqm.3 - 22 1726 c.1600C>T c.(1600-1602)Ctg>Ttg p.L534L NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 534 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCACCAGGCAGACCAGCTTCA 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 41 38 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45533062 45533062 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr3:45533062G>A uc003cop.1 + 12 1478 c.1293G>A c.(1291-1293)cgG>cgA p.R431R LARS2_uc010hit.1_Silent_p.R388R NM_015340 NP_056155 Q15031 SYLM_HUMAN Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA. 431 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AGAAAGCCCGGGGGAAGAGAG 0.542000 3 75 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169616 33169616 + Missense_Mutation SNP T T A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:33169616T>A uc003odf.3 + 2 623 c.506T>A c.(505-507)cTt>cAt p.L169H RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.L169H|SLC39A7_uc011dqv.2_Missense_Mutation_p.L44H|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_008910 Q92504 S39A7_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA. 169 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CGCTCTCTACTTCAGATCTTG 0.537000 69 63 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218713453 218713453 + Missense_Mutation SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:218713453G>A uc002vgt.2 - 16 1810 c.1412C>T c.(1411-1413)tCg>tTg p.S471L TNS1_uc002vgr.2_Missense_Mutation_p.S471L|TNS1_uc002vgs.2_Missense_Mutation_p.S471L|TNS1_uc010zjv.1_Missense_Mutation_p.S471L|TNS1_uc010fvj.1_Missense_Mutation_p.S539L|TNS1_uc010fvk.1_Missense_Mutation_p.S596L|TNS1_uc010fvi.1_Missense_Mutation_p.S158L NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 471 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGCACAGCCGAGCCCCCTGC 0.632000 3 92 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103148316 103148316 + Splice_Site SNP G G T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:103148316G>T uc001ymb.3 + 3 673 c.436_splice c.e3+1 p.L146_splice NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN Homo sapiens REST corepressor 1 (RCOR1), mRNA. 146 ELM2.|Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding p.?(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 GAAGCAAAGTGTAAGTCTTGG 0.378000 3 54 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 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 54 70 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231299576 231299576 + Frame_Shift_Del DEL G G - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:231299576delG uc009xfn.1 + 0 903 c.861delG c.(859-861)gcgfs p.A287fs NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN Homo sapiens tripartite motif containing 67 (TRIM67), mRNA. 287 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CGGGAGGCGCGGGGGCGGGGG 0.756 2 4 --- --- --- --- COG8 84342 broad.mit.edu 37 16 69366761 69366761 + Frame_Shift_Del DEL G G - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr16:69366761delG uc002ewy.2 - 3 1509 c.1438delC c.(1438-1440)catfs p.H480fs PDF_uc002ewx.1_5'Flank NM_032382 NP_115758 Q96MW5 COG8_HUMAN Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA. 480 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TCAGCGCGATGGAAGGCCAGG 0.502 25 40 --- --- --- ---