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 PCM1 5108 broad.mit.edu 37 8 17830011 17830011 + Missense_Mutation SNP T T G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr8:17830011T>G uc022asj.1 + 21 3897 c.3875T>G c.(3874-3876)tTt>tGt p.F1292C PCM1_uc003wyi.4_Missense_Mutation_p.F1253C|PCM1_uc011kyh.2_Missense_Mutation_p.F1253C|PCM1_uc003wyj.4_Missense_Mutation_p.F1254C|PCM1_uc011kyi.2_Missense_Mutation_p.F115C|PCM1_uc011kyj.2_5'UTR|PCM1_uc003wyk.4_5'UTR NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1253 Interaction with HAP1. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AGACGCCAGTTTGATGAAGAA 0.393000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 6 94 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957756 143957756 + Missense_Mutation SNP C C G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr8:143957756C>G uc010mey.3 - 6 1075 c.1068G>C c.(1066-1068)caG>caC p.Q356H CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'UTR|CYP11B1_uc003yxi.3_Missense_Mutation_p.Q285H|CYP11B1_uc003yxj.3_Missense_Mutation_p.Q285H NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 285 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGCTGGTGTACTGTTGAGGGC 0.582000 Familial Hyperaldosteronism type I 4 43 0 0 1 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852550 182852550 + Silent SNP C C A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr2:182852550C>A uc010frm.1 + 1 374 c.87C>A c.(85-87)ggC>ggA p.G29G PPP1R1C_uc002uoo.3_Intron|PPP1R1C_uc002uop.1_Intron|PPP1R1C_uc010frn.1_Intron NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA. 27 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) ATTAGCTGGGCTTTTGTCGTT 0.443000 53 73 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670993 131670993 + Missense_Mutation SNP C C T TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr9:131670993C>T uc004bwl.4 + 2 1804 c.1550C>T c.(1549-1551)aCa>aTa p.T517I LRRC8A_uc010myp.3_Missense_Mutation_p.T517I|LRRC8A_uc010myq.3_Missense_Mutation_p.T517I NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA. 517 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGCCTGAAGACACTGGAGGAG 0.622000 15 41 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr11:533874T>C uc001lpv.3 - 2 370 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 52 72 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G C TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr1:38463709G>C uc001cck.3 - 3 606 c.427C>G c.(427-429)Ccc>Gcc p.P143A FHL3_uc001ccm.3_Missense_Mutation_p.P35A|FHL3_uc009vvl.2_Missense_Mutation_p.P143A NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 143 LIM zinc-binding 2. muscle organ development zinc ion binding p.P143S(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622000 47 81 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56690784 56690784 + Nonsense_Mutation SNP G G A rs141801212 byFrequency TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr17:56690784G>A uc010dcz.2 - 8 1139 c.1021C>T c.(1021-1023)Cga>Tga p.R341* TEX14_uc002iwr.2_Nonsense_Mutation_p.R335*|TEX14_uc002iws.2_Nonsense_Mutation_p.R335*|TEX14_uc010dda.2_Nonsense_Mutation_p.R115* NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 341 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGTTTACTCGTTCATGAAGG 0.517000 41 75 0 0 1 0 0 UBOX5 22888 broad.mit.edu 37 20 3090865 3090865 + Missense_Mutation SNP C C T TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr20:3090865C>T uc002whw.3 - 4 1683 c.1513G>A c.(1513-1515)Ggc>Agc p.G505S LOC100134015_uc002whv.1_Intron|UBOX5_uc002whx.3_Missense_Mutation_p.G451S|UBOX5_uc002why.1_Missense_Mutation_p.R503Q NM_014948 NP_055763 O94941 RNF37_HUMAN Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA. 505 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 AGGAGGTGGCCGCAGGGCAGC 0.627000 5 154 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36430922 36430922 + Missense_Mutation SNP G G A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr19:36430922G>A uc002oco.3 + 1 1047 c.595G>A c.(595-597)Gct>Act p.A199T NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 199 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCGCCGGCGCTTTTTCCCG 0.677000 74 156 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29639214 29639214 + Missense_Mutation SNP C C G TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr6:29639214C>G uc003nne.3 + 7 975 c.746C>G c.(745-747)gCc>gGc p.A249G MOG_uc003nna.3_3'UTR|MOG_uc011dlt.2_3'UTR|MOG_uc011dlv.2_3'UTR|MOG_uc011dlu.2_3'UTR|MOG_uc003nnf.3_3'UTR|MOG_uc003nng.3_Missense_Mutation_p.A226G|MOG_uc003nni.3_3'UTR|MOG_uc003nnh.3_Missense_Mutation_p.A210G|MOG_uc003nnj.3_3'UTR|MOG_uc003nnk.3_Missense_Mutation_p.A203G NM_002433 NP_002424 Q16653 MOG_HUMAN Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant beta1, mRNA. 0 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CACCTGGAAGCCCTCTCTGGC 0.488000 40 66 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34262953 34262953 + Missense_Mutation SNP G G A TCGA-EM-A2CK-01A-11D-A17V-08 TCGA-EM-A2CK-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83e36900-8a9a-4356-94d0-ca431a535382 68d9273f-e401-4444-a139-1cb3ae1f89f5 g.chr19:34262953G>A uc002nus.4 + 4 765 c.260G>A c.(259-261)cGc>cAc p.R87H CHST8_uc002nut.4_Missense_Mutation_p.R87H|CHST8_uc002nuu.3_Missense_Mutation_p.R87H NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 87 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CCGAGGGGCCGCAACCTGCCA 0.667000 14 30 0 0 1 0 0