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 NPR1 4881 broad.mit.edu 37 1 153660685 153660685 + Missense_Mutation SNP G G A rs148747309 TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr1:153660685G>A uc001fcs.4 + 14 2826 c.2405G>A c.(2404-2406)cGc>cAc p.R802H NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 802 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGACGTTGCGCAAATTTAAC 0.582000 5 36 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21270003 21270003 + Silent SNP C C T TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr14:21270003C>T uc001vyf.3 - 1 401 c.225G>A c.(223-225)gtG>gtA p.V75V RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V NM_198232 NP_937878 P07998 RNAS1_HUMAN Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA. 75 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) GGGGCTCGTGCACAAAGGTGT 0.542000 5 73 0 0 1 0 0 IGFBP7 3490 broad.mit.edu 37 4 57898634 57898634 + Missense_Mutation SNP T T C TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr4:57898634T>C uc003hcn.3 - 3 821 c.787A>G c.(787-789)Att>Gtt p.I263V IGFBP7_uc011cag.2_Missense_Mutation_p.I263V NM_001553 NP_001544 Q16270 IBP7_HUMAN Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. 263 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCACTGTAATTTTTGCTGAT 0.368000 6 35 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89391161 89391161 + Missense_Mutation SNP C C T rs143697605 by1000genomes TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr15:89391161C>T uc010upo.1 + 8 1998 c.1624C>T c.(1624-1626)Cgg>Tgg p.R542W ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 542 cell adhesion hyaluronic acid binding|sugar binding p.R542W(2)|p.P541P(1) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGTGAGCCCCCGGACCCCATG 0.607000 4 56 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920619 58920619 + Missense_Mutation SNP G G A TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr11:58920619G>A uc010rkp.2 + 4 1705 c.1478G>A c.(1477-1479)cGa>cAa p.R493Q FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q NM_001142521 NP_942144 Q96PZ2 F111A_HUMAN Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA. 493 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGGGTCAGCGAGCAAAGAAA 0.403000 7 89 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d 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) 52 62 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146560393 146560393 + Silent SNP C C T rs146372922 byFrequency TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr4:146560393C>T uc003ikh.4 + 1 187 c.102C>T c.(100-102)ctC>ctT p.L34L MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 34 mitochondrion GTP binding|nucleoside-triphosphatase activity p.L34V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTACTCATCTCGGATCAGGAA 0.443000 46 78 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922809 17922809 + Missense_Mutation SNP G G T TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr19:17922809G>T uc002nhl.1 + 2 1144 c.997G>T c.(997-999)Gac>Tac p.D333Y B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 333 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GTCCTCCTTTGACCCCTGCTT 0.622000 13 114 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13220604 13220604 + Silent SNP T T C TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr19:13220604T>C uc002mwj.2 - 8 1405 c.1155A>G c.(1153-1155)gaA>gaG p.E385E TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA. 385 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GCCCACAGTGTTCACACTCGG 0.627000 10 26 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153660685 153660685 + Missense_Mutation SNP G G A rs148747309 TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr1:153660685G>A uc001fcs.4 + 14 2826 c.2405G>A c.(2404-2406)cGc>cAc p.R802H NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 802 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGACGTTGCGCAAATTTAAC 0.582000 5 36 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21270003 21270003 + Silent SNP C C T TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr14:21270003C>T uc001vyf.3 - 1 401 c.225G>A c.(223-225)gtG>gtA p.V75V RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V NM_198232 NP_937878 P07998 RNAS1_HUMAN Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA. 75 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) GGGGCTCGTGCACAAAGGTGT 0.542000 5 73 0 0 1 0 0 IGFBP7 3490 broad.mit.edu 37 4 57898634 57898634 + Missense_Mutation SNP T T C TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr4:57898634T>C uc003hcn.3 - 3 821 c.787A>G c.(787-789)Att>Gtt p.I263V IGFBP7_uc011cag.2_Missense_Mutation_p.I263V NM_001553 NP_001544 Q16270 IBP7_HUMAN Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. 263 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCACTGTAATTTTTGCTGAT 0.368000 6 35 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89391161 89391161 + Missense_Mutation SNP C C T rs143697605 by1000genomes TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr15:89391161C>T uc010upo.1 + 8 1998 c.1624C>T c.(1624-1626)Cgg>Tgg p.R542W ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 542 cell adhesion hyaluronic acid binding|sugar binding p.R542W(2)|p.P541P(1) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGTGAGCCCCCGGACCCCATG 0.607000 4 56 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920619 58920619 + Missense_Mutation SNP G G A TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr11:58920619G>A uc010rkp.2 + 4 1705 c.1478G>A c.(1477-1479)cGa>cAa p.R493Q FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q NM_001142521 NP_942144 Q96PZ2 F111A_HUMAN Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA. 493 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGGGTCAGCGAGCAAAGAAA 0.403000 7 89 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 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) 52 62 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146560393 146560393 + Silent SNP C C T rs146372922 byFrequency TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr4:146560393C>T uc003ikh.4 + 1 187 c.102C>T c.(100-102)ctC>ctT p.L34L MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 34 mitochondrion GTP binding|nucleoside-triphosphatase activity p.L34V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTACTCATCTCGGATCAGGAA 0.443000 46 78 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922809 17922809 + Missense_Mutation SNP G G T TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr19:17922809G>T uc002nhl.1 + 2 1144 c.997G>T c.(997-999)Gac>Tac p.D333Y B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 333 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GTCCTCCTTTGACCCCTGCTT 0.622000 13 114 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13220604 13220604 + Silent SNP T T C TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr19:13220604T>C uc002mwj.2 - 8 1405 c.1155A>G c.(1153-1155)gaA>gaG p.E385E TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA. 385 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GCCCACAGTGTTCACACTCGG 0.627000 10 26 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60142516 60142516 + Frame_Shift_Del DEL A A - TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 c65e4fef-29d8-47ae-aa97-f65bf352c24d g.chr17:60142516delA uc002izo.3 - 0 128 c.51delT c.(49-51)tgtfs p.C17fs NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGAAGAGGTTACAGTGACAAT 0.716 2 4 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60142516 60142516 + Frame_Shift_Del DEL A A - TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chr17:60142516delA uc002izo.3 - 0 128 c.51delT c.(49-51)tgtfs p.C17fs NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGAAGAGGTTACAGTGACAAT 0.716 2 4 --- --- --- --- LRCH2 57631 broad.mit.edu 37 X 114414309 114414309 + Frame_Shift_Del DEL A A - TCGA-BJ-A45G-01A-11D-A23U-08 TCGA-BJ-A45G-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx c664ae81-8962-418c-8335-db2aa5ad98d3 d962e1b5-46ff-4ce3-8372-69616984a546 g.chrX:114414309delA uc010nqe.3 - 3 658 c.627delT c.(625-627)attfs p.I209fs LRCH2_uc004epz.3_Frame_Shift_Del_p.I209fs NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA. 209 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 CATTGCAGCTAATATCCTAAG 0.279 2 4 --- --- --- ---