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 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 6 79 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706481 128706481 + Silent SNP G G A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:128706481G>A ENST00000265068.5 - 4 812 c.645C>T c.(643-645)gaC>gaT p.D215D KIAA1257_ENST00000515659.1_Silent_p.D103D|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Silent_p.D215D NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 215 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AAGCTCCCACGTCGTCTGTGA 0.428000 5 64 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 54 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509227 171509227 + Silent SNP A A G TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr1:171509227A>G ENST00000367742.3 + 16 2864 c.2622A>G c.(2620-2622)caA>caG p.Q874Q PRRC2C_ENST00000338920.4_Silent_p.Q872Q|PRRC2C_ENST00000392078.3_Silent_p.Q874Q|PRRC2C_ENST00000426496.2_Silent_p.Q872Q Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 872 protein C-terminus binding CACAAGTACAAAAGTTTTTAA 0.398000 38 71 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 5 73 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627281 170627281 + Missense_Mutation SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr6:170627281C>T ENST00000476287.1 + 2 911 c.803C>T c.(802-804)tCa>tTa p.S268L FAM120B_ENST00000540480.1_Missense_Mutation_p.S280L|FAM120B_ENST00000537664.1_Missense_Mutation_p.S291L|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 268 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TTAGCTGTGTCAGACCATATA 0.353000 8 76 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 15 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58750077 58750077 + Missense_Mutation SNP C C A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr16:58750077C>A ENST00000245206.5 - 8 988 c.860G>T c.(859-861)cGt>cTt p.R287L GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.R244L NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 287 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGCTCCTACACGCTCACCTGA 0.428000 20 46 4.96729e-08 5.48115e-08 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 6 43 0 0 1 0 0 BDNF-AS 0 broad.mit.edu 37 11 27528432 27528432 + RNA SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr11:27528432C>T ENST00000499008.3 + 0 34 BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA NR_002832.2 GAGTGTGTCGCCGCGGCCATC 0.657000 5 11 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152957468 152957468 + Missense_Mutation SNP C C A TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chrX:152957468C>A ENST00000253122.5 + 4 1159 c.683C>A c.(682-684)cCa>cAa p.P228Q SLC6A8_ENST00000430077.2_Missense_Mutation_p.P113Q NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 228 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) CTGGAGGTGCCAGGGGCCCTC 0.612000 11 15 5.50884e-06 5.87609e-06 1 1 0 LRRC37A5P 0 broad.mit.edu 37 9 114371493 114371493 + RNA SNP C C T rs12351897 by1000genomes TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr9:114371493C>T ENST00000374304.1 - 0 306 CTTCTCACATCGTTGTTGGGG 0.502000 9 83 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15729056 15729056 + RNA SNP C C G rs714772 by1000genomes TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:15729056C>G ENST00000441682.2 + 0 407 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TACTCAGCCCCTTCCTTCCTG 0.537000 4 29 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51418794 51418794 + Missense_Mutation SNP A A C TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:51418794A>C ENST00000266037.9 + 53 5920 c.5897A>C c.(5896-5898)gAc>gCc p.D1966A NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1966 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ATCCCTCAGGACCCCATGGAC 0.677000 9 32 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 49 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638425 48638425 + Missense_Mutation SNP T T C TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:48638425T>C ENST00000203407.5 - 8 1365 c.949A>G c.(949-951)Act>Gct p.T317A NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 317 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CCACCATAAGTGCAGTCATAG 0.622000 14 26 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 13 48 0 0 1 0 0 RPL18A 6142 broad.mit.edu 37 19 17973820 17973820 + Missense_Mutation SNP C C T TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:17973820C>T ENST00000599870.1 + 3 934 c.335C>T c.(334-336)gCt>gTt p.A112V RPL18A_ENST00000600147.1_Splice_Site|RPL18A_ENST00000599898.1_Missense_Mutation_p.A102V|RPL18A_ENST00000222247.5_Missense_Mutation_p.A141V Q02543 RL18A_HUMAN ribosomal protein L18a 141 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CGCCGGCCGGCTGTCAAGCAG 0.677000 15 21 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3281319 3281319 + Missense_Mutation SNP C C G TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:3281319C>G ENST00000541430.2 + 6 762 c.726C>G c.(724-726)agC>agG p.S242R CELF5_ENST00000292672.2_Missense_Mutation_p.S242R NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 242 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TGCCCTTCAGCCCCTACAGTG 0.642000 14 71 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154138835 154138835 + Frame_Shift_Del DEL G G - TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr3:154138835delG ENST00000389740.2 - 3 1715 c.1616delC c.(1615-1617)ctfs p.P539fs NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 539 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TACCTGACGAGGGGTTCTTTC 0.368 16 16 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25299376 25299376 + RNA DEL A A - TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr15:25299376delA ENST00000549804.2 + 0 98 SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA ATGAGTCCCCAAAAAAAACAT 0.493 8 160 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-EL-A4JW-01A-11D-A257-08 TCGA-EL-A4JW-11A-12D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f3ed41c-8506-4db3-b856-ca823d511258 9b411822-8132-4319-a3a5-0600a50a1c7d g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 8 34 --- --- --- ---