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 CHRNA2 0 broad.mit.edu 37 8 27319199 27319199 + Missense_Mutation SNP A A G TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr8:27319199A>G ENST00000407991.1 - 7 2145 c.1537T>C c.(1537-1539)Ttc>Ctc p.F513L CHRNA2_ENST00000520933.2_Missense_Mutation_p.F513L|CHRNA2_ENST00000240132.2_Missense_Mutation_p.F498L NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 513 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTCCCCAGGAAGCAGACGATG 0.572000 17 41 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112578720 112578720 + Missense_Mutation SNP G G A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr12:112578720G>A ENST00000257604.5 + 5 952 c.335G>A c.(334-336)cGg>cAg p.R112Q TRAFD1_ENST00000412615.2_Missense_Mutation_p.R112Q NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 112 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TGTGGTGCCCGGACGGAACTA 0.483000 15 42 0 0 1 0 0 HPDL 84842 broad.mit.edu 37 1 45793454 45793454 + Silent SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr1:45793454C>T ENST00000334815.3 + 1 910 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 212 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) GCTTGGGGGACTGAGGCTTAC 0.642000 11 52 0 0 1 0 0 HDDC3 374659 broad.mit.edu 37 15 91475311 91475311 + Missense_Mutation SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr15:91475311C>T ENST00000330334.3 - 2 147 c.142G>A c.(142-144)Gga>Aga p.G48R HDDC3_ENST00000394272.3_Missense_Mutation_p.G48R|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Missense_Mutation_p.G48R NM_198527.2 NP_940929.1 Q8N4P3 MESH1_HUMAN HD domain containing 3 48 HD. guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity NS(1)|ovary(1) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TCAGTGATTCCCGCCTCGTGG 0.592000 OREG0023475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49284490 49284490 + Missense_Mutation SNP G G A rs140688864 TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr15:49284490G>A ENST00000559471.1 - 18 3520 c.3257C>T c.(3256-3258)tCg>tTg p.S1086L SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S1041L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 1086 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TTTGTTGAGCGAGCTGCAGTT 0.552000 7 47 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37523045 37523045 + Missense_Mutation SNP T T G TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr3:37523045T>G ENST00000264741.5 + 4 747 c.491T>G c.(490-492)aTc>aGc p.I164S ITGA9_ENST00000422441.1_Missense_Mutation_p.I164S NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 164 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TTCTGCTACATCATCCCCTCC 0.537000 32 49 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114149937 114149937 + Missense_Mutation SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr13:114149937C>T ENST00000434316.2 + 2 400 c.41C>T c.(40-42)cCc>cTc p.P14L TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.P14L NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 14 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GTGCTGTTTCCCGTCCTTCCC 0.642000 5 25 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48866617 48866617 + Missense_Mutation SNP G G T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr19:48866617G>T ENST00000293261.3 - 2 511 c.195C>A c.(193-195)gaC>gaA p.D65E TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Missense_Mutation_p.D65E|TMEM143_ENST00000435956.3_Missense_Mutation_p.D65E|TMEM143_ENST00000377431.2_Missense_Mutation_p.D65E NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 65 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GCTGGGCCCAGTCGCGGGGCT 0.667000 9 30 3.86212e-05 3.97247e-05 1 1 0 IFNL2 282616 broad.mit.edu 37 19 39759357 39759357 + Silent SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr19:39759357C>T ENST00000331982.5 + 2 106 c.51C>T c.(49-51)gcC>gcT p.A17A NM_172138.1 NP_742150.1 interferon, lambda 2 TGCTGATGGCCGCAGTGCTGA 0.637000 7 44 0 0 1 0 0 IGKV1D-12 0 broad.mit.edu 37 2 90198917 90198917 + RNA SNP G G C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr2:90198917G>C ENST00000390276.2 + 0 259 ACATCCAGATGACCCAGTCTC 0.458000 11 55 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56142876 56142876 + Missense_Mutation SNP G G A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr15:56142876G>A ENST00000508342.1 - 10 2767 c.2468C>T c.(2467-2469)tCc>tTc p.S823F NEDD4_ENST00000506154.1_Missense_Mutation_p.S807F|NEDD4_ENST00000338963.2_Missense_Mutation_p.S751F|NEDD4_ENST00000435532.3_Missense_Mutation_p.S404F P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 823 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) ATCACTGGTGGAGGCTTGTGA 0.498000 7 35 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323615 64323615 + Missense_Mutation SNP G G A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr2:64323615G>A ENST00000358912.4 - 5 875 c.433C>T c.(433-435)Cgg>Tgg p.R145W NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 145 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 GGAGGATTCCGTTCACATATG 0.373000 5 17 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 7 30 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66103088 66103088 + Missense_Mutation SNP G G A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr11:66103088G>A ENST00000311320.4 - 4 574 c.448C>T c.(448-450)Cac>Tac p.H150Y RIN1_ENST00000530056.1_Missense_Mutation_p.H45Y|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.H45Y NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 150 SH2. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CACCGGGTGTGGCAGTAGGCA 0.647000 6 14 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243462 46243462 + Silent SNP A A G TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr12:46243462A>G ENST00000334344.6 + 14 1987 c.1815A>G c.(1813-1815)ccA>ccG p.P605P ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.P456P|ARID2_ENST00000444670.1_Silent_p.P215P NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 605 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGGCTATACCACTTCCCATTC 0.463000 """N, S, F""" hepatocellular carcinoma 9 55 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211171 78211171 + RNA SNP A A G rs12592262 by1000genomes TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr15:78211171A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CTGGAAGAGCACGAGCCTCTC 0.602000 12 94 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27444633 27444633 + Missense_Mutation SNP T T C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr3:27444633T>C ENST00000295736.5 - 15 2361 c.2291A>G c.(2290-2292)tAc>tGc p.Y764C SLC4A7_ENST00000388777.4_Missense_Mutation_p.Y314C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.Y649C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.Y760C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.Y640C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.Y773C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.Y645C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.Y756C|SLC4A7_ENST00000425128.2_3'UTR NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 764 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TACTTACGAGTAGCTGGTCAG 0.328000 13 19 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140358578 140358578 + Splice_Site SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr9:140358578C>T ENST00000406427.1 - 28 3562 c.3226_splice c.e28+1 p.G1076_splice PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.G657_splice|PNPLA7_ENST00000277531.4_Splice_Site_p.G1051_splice NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1051 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GAGTGCTCACCGTCGGTGTGG 0.692000 9 15 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105349547 105349547 + Silent SNP T T C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr14:105349547T>C ENST00000453495.1 + 8 984 c.756T>C c.(754-756)gaT>gaC p.D252D CEP170B_ENST00000418279.1_Silent_p.D181D|CEP170B_ENST00000414716.3_Silent_p.D251D|CEP170B_ENST00000556508.1_Silent_p.D181D centrosomal protein 170B CCACGAAGGATGCAGAGGCAG 0.662000 6 32 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610400 10610400 + Missense_Mutation SNP T T C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr19:10610400T>C ENST00000171111.5 - 2 857 c.310A>G c.(310-312)Agc>Ggc p.S104G KEAP1_ENST00000393623.2_Missense_Mutation_p.S104G NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 104 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AAGACAGGGCTGGATGAGGCC 0.622000 13 6 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5529772 5529772 + Missense_Mutation SNP G G C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr7:5529772G>C ENST00000453700.3 - 5 2189 c.2072C>G c.(2071-2073)tCt>tGt p.S691C FBXL18_ENST00000382368.3_Intron Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 691 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) AGTGGCTCGAGACGTCCTGGC 0.617000 9 7 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392106 178392106 + Missense_Mutation SNP A A G TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr5:178392106A>G ENST00000320129.3 + 5 1004 c.701A>G c.(700-702)cAc>cGc p.H234R ZNF454_ENST00000519564.1_Missense_Mutation_p.H234R NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CTTATCCATCACCAAAGAATT 0.388000 21 46 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980815 121980815 + Silent SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr3:121980815C>T ENST00000498619.1 + 4 1371 c.933C>T c.(931-933)ttC>ttT p.F311F CASR_ENST00000490131.1_Silent_p.F311F|CASR_ENST00000296154.5_Silent_p.F311F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 311 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTCAGTACTTCCACGTGGTTG 0.597000 20 36 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4523662 4523662 + Missense_Mutation SNP T T C TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr19:4523662T>C ENST00000381848.3 - 8 1350 c.1270A>G c.(1270-1272)Agg>Ggg p.R424G NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 424 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CTCCCGTCCCTGTGCTCTGCC 0.701000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 79 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842863 35842863 + Missense_Mutation SNP C C T TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr19:35842863C>T ENST00000246553.2 + 1 419 c.409C>T c.(409-411)Cac>Tac p.H137Y NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 137 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) CGTCCTGTGTCACCTGGGTCT 0.657000 16 48 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101775489 101775489 + Missense_Mutation SNP T T A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr15:101775489T>A ENST00000254190.3 - 2 1089 c.614A>T c.(613-615)gAa>gTa p.E205V NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 205 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCCATTTCTTCCGTGGTGCC 0.587000 9 38 0 0 1 0 0 EFCAB14 9813 broad.mit.edu 37 1 47182006 47182007 + Frame_Shift_Ins INS - - AA TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr1:47182006_47182007insAA ENST00000371933.3 - 2 1270_1271 c.294_295insTT c.(292-297)ctaggafs p.G99fs EFCAB14_ENST00000544071.1_Frame_Shift_Ins_p.G99fs NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 AGATCCTCCTTGAGAGCAACCT 0.421 14 32 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72280990 72280991 + RNA DEL AC AC - rs6960315 TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr7:72280990_72280991delAC ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity gtgtgtgtgtacgtgtgtgtgc 0.381 7 72 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120209 142120210 + RNA DEL TG TG - TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr7:142120209_142120210delTG ENST00000390377.1 - 0 49 cagacacacatgcatacacaca 0.436 7 126 --- --- --- --- MIRLET7DHG 0 broad.mit.edu 37 9 96941099 96941100 + RNA INS - - A TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr9:96941099_96941100insA ENST00000416309.2 - 0 164 RP11-2B6.3_ENST00000602703.1_lincRNA NR_046163.1 AGACCAGCAAGAAAAAAAAAAT 0.376 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaa 0.463 3 4 --- --- --- --- EIF3CL 728689 broad.mit.edu 37 16 28403353 28403355 + In_Frame_Del DEL TCC TCC - TCGA-FY-A4B0-01A-21D-A23U-08 TCGA-FY-A4B0-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c5369c0-0005-4ca1-b5c7-0f44174f556b fadf7923-0df0-4bd1-bc7a-707eb8181477 g.chr16:28403353_28403355delTCC ENST00000398943.3 - 9 1021_1023 c.885_887delGGA c.(883-888)gac>ga p.ED295del EIF3CL_ENST00000380876.4_In_Frame_Del_p.ED295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.ED295del eukaryotic translation initiation factor 3, subunit C-like GCCTTCATTGTCCTCCTCCTCCT 0.547 7 12 --- --- --- ---