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 PLD2 5338 broad.mit.edu 37 17 4719165 4719165 + Missense_Mutation SNP G G A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr17:4719165G>A ENST00000263088.6 + 14 1522 c.1391G>A c.(1390-1392)cGc>cAc p.R464H PLD2_ENST00000572940.1_Missense_Mutation_p.R464H NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 464 Catalytic.|PLD phosphodiesterase 1. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) GCCTATGGCCGCTGGGATGAC 0.597000 OREG0024105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 140 0 0 0.184627 0 0 LAMP3 27074 broad.mit.edu 37 3 182841901 182841901 + Missense_Mutation SNP T T A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr3:182841901T>A ENST00000265598.3 - 6 1474 c.1219A>T c.(1219-1221)Agg>Tgg p.R407W LAMP3_ENST00000466939.1_Missense_Mutation_p.R383W NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 407 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GATTGACACCTTAGGCGGATT 0.458000 5 145 0 0 0.217242 0 0 RPL12 6136 broad.mit.edu 37 9 130213590 130213590 + Missense_Mutation SNP G G A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr9:130213590G>A ENST00000361436.5 - 1 94 c.7C>T c.(7-9)Ccg>Tcg p.P3S RPL12_ENST00000536368.1_Missense_Mutation_p.P3S|RPL12_ENST00000497322.1_5'UTR NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 3 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCGAACTTCGGCGGCATGGTG 0.657000 6 67 0 0 0.278610 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 4 270 0 0 0.217242 0 0 MRPS30 10884 broad.mit.edu 37 5 44809124 44809124 + Silent SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr5:44809124C>T ENST00000507110.1 + 1 98 c.60C>T c.(58-60)acC>acT p.T20T NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 20 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) CATTGCACACCGCGGCTAATG 0.647000 8 9 0 0 0.278610 0 0 MRPS23 51649 broad.mit.edu 37 17 55918341 55918341 + Silent SNP C C G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr17:55918341C>G ENST00000313608.8 - 4 411 c.366G>C c.(364-366)ggG>ggC p.G122G MRPS23_ENST00000578444.1_Silent_p.G122G NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 122 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) ATAAAGCCTTCCCTGTTTCCA 0.398000 3 144 0 0 0.115264 0 0 ENPP2 0 broad.mit.edu 37 8 120606083 120606083 + Missense_Mutation SNP C C G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr8:120606083C>G ENST00000427067.2 - 12 1158 c.978G>C c.(976-978)agG>agC p.R326S ENPP2_ENST00000259486.6_Missense_Mutation_p.R382S|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330S|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330S Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 330 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGTCGATTTCCCTCAGAGGAT 0.423000 11 335 0 0 0.361761 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 51 0 0 0.115264 0 0 CDS2 8760 broad.mit.edu 37 20 5169753 5169753 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr20:5169753C>T ENST00000460006.1 + 11 1329 c.1022C>T c.(1021-1023)gCt>gTt p.A341V CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.A111V|CDS2_ENST00000379062.4_Missense_Mutation_p.A221V NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 341 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CACAGCATCGCTCTCTCCACC 0.458000 46 75 0 0 0.870114 0 0 ST18 9705 broad.mit.edu 37 8 53084925 53084925 + Nonsense_Mutation SNP C C A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr8:53084925C>A ENST00000276480.7 - 10 1179 c.496G>T c.(496-498)Gag>Tag p.E166* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 166 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGAAAGCACTCGTCTGCTTCA 0.398000 3 87 0.115264 0.120753 0.115264 1 0 DTNA 1837 broad.mit.edu 37 18 32374191 32374191 + Silent SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr18:32374191C>T ENST00000283365.9 + 5 690 c.339C>T c.(337-339)aaC>aaT p.N113N DTNA_ENST00000596745.1_Silent_p.N113N|DTNA_ENST00000444659.1_Silent_p.N113N|DTNA_ENST00000315456.6_Silent_p.N113N|DTNA_ENST00000348997.5_Silent_p.N113N|DTNA_ENST00000269190.7_Silent_p.N113N|DTNA_ENST00000399113.3_Silent_p.N113N|DTNA_ENST00000269191.6_Silent_p.N113N|DTNA_ENST00000399121.5_Silent_p.N113N|DTNA_ENST00000595022.1_Silent_p.N113N|DTNA_ENST00000598334.1_Silent_p.N113N|DTNA_ENST00000554864.3_Silent_p.N113N|DTNA_ENST00000598142.1_Silent_p.N113N|DTNA_ENST00000598774.1_Silent_p.N113N|DTNA_ENST00000597599.1_Silent_p.N113N|DTNA_ENST00000399097.3_5'UTR NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 113 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TCCTCCTTAACTTCCTGCTTG 0.473000 13 95 0 0 0.520397 0 0 SLC12A6 9990 broad.mit.edu 37 15 34537938 34537938 + Silent SNP G G A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr15:34537938G>A ENST00000354181.3 - 14 2272 c.1780C>T c.(1780-1782)Ctg>Ttg p.L594L SLC12A6_ENST00000560611.1_Silent_p.L594L|SLC12A6_ENST00000558667.1_Silent_p.L594L|SLC12A6_ENST00000558589.1_Silent_p.L585L|SLC12A6_ENST00000458406.2_Silent_p.L535L|SLC12A6_ENST00000451844.2_Silent_p.L406L|SLC12A6_ENST00000397702.2_Silent_p.L535L|SLC12A6_ENST00000397707.2_Silent_p.L579L|SLC12A6_ENST00000290209.5_Silent_p.L543L|SLC12A6_ENST00000560164.1_Silent_p.L406L Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 594 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GCTTGTAGCAGCCTCGGTGCA 0.473000 5 89 0 0 0.184627 0 0 NAIP 4671 broad.mit.edu 37 5 70308276 70308276 + Missense_Mutation SNP T T C TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr5:70308276T>C ENST00000517649.1 - 4 757 c.467A>G c.(466-468)tAc>tGc p.Y156C NAIP_ENST00000508426.2_Missense_Mutation_p.Y156C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Y156C|NAIP_ENST00000503719.2_Intron NM_004536.2 NP_004527.2 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein 156 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CTCTTCTTGGTACCTCATTTT 0.468000 3 124 0 0 0.115264 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 51 0 0 0.217242 0 0 PRKD3 23683 broad.mit.edu 37 2 37496767 37496767 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr2:37496767C>T ENST00000379066.1 - 13 2530 c.1768G>A c.(1768-1770)Gtt>Att p.V590I PRKD3_ENST00000234179.2_Missense_Mutation_p.V590I O94806 KPCD3_HUMAN protein kinase D3 590 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) CCTCCATAAACGATGCCAAAC 0.368000 3 56 0 0 0.184627 0 0 ADSSL1 122622 broad.mit.edu 37 14 105212622 105212622 + Silent SNP T T G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr14:105212622T>G ENST00000332972.5 + 12 1509 c.1350T>G c.(1348-1350)ccT>ccG p.P450P ADSSL1_ENST00000330877.2_Silent_p.P407P|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000555674.1_Silent_p.P13P|ADSSL1_ENST00000556623.1_Silent_p.P13P NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 407 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) AAACGCTGCCTGGGTGGAAAG 0.587000 7 79 0 0 0.307466 0 0 NKD1 85407 broad.mit.edu 37 16 50666208 50666208 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr16:50666208C>T ENST00000268459.3 + 9 936 c.712C>T c.(712-714)Cgc>Tgc p.R238C NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 238 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GGGTGACAGCCGCCTGGAGCA 0.562000 27 37 0 0 0.729181 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325500 37325500 + Missense_Mutation SNP C C A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr22:37325500C>A ENST00000262825.5 + 5 665 c.448C>A c.(448-450)Ctg>Atg p.L150M CSF2RB_ENST00000403662.3_Missense_Mutation_p.L150M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L91M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L150M NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 150 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCACTTCCTGCTGACCTGGAG 0.627000 4 169 0.150653 0.154157 0.150653 1 0 OR2J2 26707 broad.mit.edu 37 6 29141930 29141930 + Missense_Mutation SNP G G A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr6:29141930G>A ENST00000377167.2 + 1 620 c.518G>A c.(517-519)cGc>cAc p.R173H NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGTGGACATCGCCTAGTGGAT 0.468000 44 171 0 0 0.870114 0 0 DCT 1638 broad.mit.edu 37 13 95121126 95121126 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr13:95121126C>T ENST00000377028.5 - 2 882 c.469G>A c.(469-471)Gtg>Atg p.V157M DCT_ENST00000446125.1_Missense_Mutation_p.V157M NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 157 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GTGGTGATCACGTAGTCGGGG 0.517000 96 180 0 0 0.870114 0 0 CNGA2 1260 broad.mit.edu 37 X 150911807 150911807 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chrX:150911807C>T ENST00000329903.4 + 6 865 c.832C>T c.(832-834)Ctt>Ttt p.L278F NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 278 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CATCAGCAACCTTGTCCTCTA 0.512000 4 222 0 0 0.150653 0 0 BAI3 577 broad.mit.edu 37 6 70034893 70034893 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr6:70034893C>T ENST00000370598.1 + 21 3765 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C BAI3_ENST00000238918.8_Missense_Mutation_p.R188C NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 982 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TATAAGAAAACGCTTTTTGTG 0.403000 12 134 0 0 0.457914 0 0 GOLGA4 2803 broad.mit.edu 37 3 37323489 37323489 + Missense_Mutation SNP G G A rs7612972 TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr3:37323489G>A ENST00000361924.2 + 3 577 c.203G>A c.(202-204)cGg>cAg p.R68Q GOLGA4_ENST00000356847.4_Missense_Mutation_p.R90Q|GOLGA4_ENST00000444882.1_Missense_Mutation_p.R68Q|GOLGA4_ENST00000435830.2_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 68 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTCCAGCTCCGGGTGCCCTCC 0.443000 3 92 0 0 0.150653 0 0 PRPS2 5634 broad.mit.edu 37 X 12837725 12837725 + Silent SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chrX:12837725C>T ENST00000380668.5 + 5 758 c.630C>T c.(628-630)gaC>gaT p.D210D PRPS2_ENST00000398491.2_Silent_p.D213D NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 210 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 TGGTGGGCGACGTGAAGGACC 0.552000 97 230 0 0 0.870114 0 0 RHBDL3 162494 broad.mit.edu 37 17 30615975 30615975 + Silent SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr17:30615975C>T ENST00000269051.4 + 4 473 c.459C>T c.(457-459)taC>taT p.Y153Y RHBDL3_ENST00000536287.1_Silent_p.Y55Y|RHBDL3_ENST00000538145.1_Silent_p.Y145Y NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 153 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) GCAAGTGGTACTATGACAGCT 0.622000 34 52 0 0 0.804634 0 0 CSF2RA 0 broad.mit.edu 37 X 1407736 1407736 + Missense_Mutation SNP C C T TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chrX:1407736C>T ENST00000381524.3 + 6 614 c.428C>T c.(427-429)aCg>aTg p.T143M CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 143 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGGGGTCCGACGGCCCCCCGT 0.473000 11 142 0 0 0.387290 0 0 DSCAM 1826 broad.mit.edu 37 21 41648055 41648055 + Silent SNP G G A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr21:41648055G>A ENST00000400454.1 - 11 2802 c.2325C>T c.(2323-2325)gaC>gaT p.D775D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 775 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACTTGCTGACGTCTGCGCCCA 0.468000 5 92 0 0 0.217242 0 0 GPR156 165829 broad.mit.edu 37 3 119886716 119886716 + Missense_Mutation SNP C C A TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr3:119886716C>A ENST00000464295.1 - 10 2053 c.1608G>T c.(1606-1608)gaG>gaT p.E536D GPR156_ENST00000461057.1_Missense_Mutation_p.E532D|GPR156_ENST00000315843.3_Missense_Mutation_p.E536D Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 536 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GTGACCGCCGCTCTGGGGGCT 0.592000 6 315 0.0215528 0.0231298 0.217242 1 0 INHBA 3624 broad.mit.edu 37 7 41739665 41739665 + Missense_Mutation SNP A A G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr7:41739665A>G ENST00000242208.4 - 2 554 c.308T>C c.(307-309)aTa>aCa p.I103T INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I103T|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 103 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTCATCCTCTATCTCCACATA 0.542000 TSP Lung(11;0.080) 6 535 0 0 0.248553 0 0 FRYL 285527 broad.mit.edu 37 4 48501632 48501632 + Missense_Mutation SNP A A G TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr4:48501632A>G ENST00000537810.1 - 64 9453 c.8849T>C c.(8848-8850)aTa>aCa p.I2950T FRYL_ENST00000507873.2_Missense_Mutation_p.I340T|FRYL_ENST00000264319.7_Missense_Mutation_p.I340T|FRYL_ENST00000503238.1_Missense_Mutation_p.I2950T|FRYL_ENST00000358350.4_Missense_Mutation_p.I2950T O94915 FRYL_HUMAN FRY-like 2950 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATGGAAATATATATGTAACAG 0.418000 4 98 0 0 0.150653 0 0 GAS1 2619 broad.mit.edu 37 9 89560958 89560958 + Missense_Mutation SNP G G C TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr9:89560958G>C ENST00000298743.7 - 1 1146 c.737C>G c.(736-738)gCc>gGc p.A246G NM_002048.2 NP_002039.2 P54826 GAS1_HUMAN growth arrest-specific 1 246 cell cycle arrest|negative regulation of S phase of mitotic cell cycle anchored to plasma membrane kidney(1)|lung(2)|skin(1) 4 GCCCAGCTCGGCGCCGAAGCA 0.701000 4 28 0 0 0.248553 0 0 AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 2 4 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 7 84 --- --- --- --- PAWR 5074 broad.mit.edu 37 12 80083954 80083954 + Frame_Shift_Del DEL T T - TCGA-EM-A3AL-01A-11D-A202-08 TCGA-EM-A3AL-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 248fd0ed-f14c-40b8-9f14-e9c7adf16e22 876b9a95-f58f-427b-bfd1-6919adda895d g.chr12:80083954delT ENST00000328827.4 - 2 443 c.71delA c.(70-72)agfs p.K24fs RP11-530C5.1_ENST00000551995.1_lincRNA NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 24 actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GCGTTTCGCCTTCCACTCCTC 0.731 2 4 --- --- --- ---