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 uc002fzc.3 + 13 1517 c.1391G>A c.(1390-1392)cGc>cAc p.R464H PLD2_uc010vsj.2_Missense_Mutation_p.R321H|PLD2_uc002fzd.3_Missense_Mutation_p.R464H NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 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 1 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 uc003flh.4 - 5 1443 c.1219A>T c.(1219-1221)Agg>Tgg p.R407W NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA. 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 1 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 uc004bqy.2 - 0 122 c.7C>T c.(7-9)Ccg>Tcg p.P3S RPL12_uc004bqz.2_Missense_Mutation_p.P3S|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank NM_000976 NP_000967 P30050 RL12_HUMAN Homo sapiens ribosomal protein L12 (RPL12), mRNA. 3 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome p.P3P(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCGAACTTCGGCGGCATGGTG 0.657000 6 67 0 0 1 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 uc010kak.3 + 19 3220 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C BAI3_uc003pev.4_Missense_Mutation_p.R982C|BAI3_uc011dxx.2_Missense_Mutation_p.R188C NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 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 1 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 uc004aox.4 - 0 1147 c.737C>G c.(736-738)gCc>gGc p.A246G BC036850_uc004aoy.3_5'Flank NM_002048 NP_002039 P54826 GAS1_HUMAN Homo sapiens growth arrest-specific 1 (GAS1), mRNA. 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 1 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 uc003joh.3 + 0 98 c.60C>T c.(58-60)acC>acT p.T20T MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA. 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 1 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 uc002ivc.3 - 3 428 c.366G>C c.(364-366)ggG>ggC p.G122G NM_016070 NP_057154 Q9Y3D9 RT23_HUMAN Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA. 122 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome p.G122R(1) endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) ATAAAGCCTTCCCTGTTTCCA 0.398000 3 144 0 0 1 0 0 ENPP2 5168 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 uc003yos.2 - 12 1232 c.1146G>C c.(1144-1146)agG>agC p.R382S ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Missense_Mutation_p.R330S|ENPP2_uc003yot.2_Missense_Mutation_p.R330S NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 330 G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|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 1 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 uc002wls.3 + 10 1354 c.1022C>T c.(1021-1023)gCt>gTt p.A341V CDS2_uc002wlw.3_Missense_Mutation_p.A221V|CDS2_uc002wlv.3_Missense_Mutation_p.A243V|CDS2_uc010zqv.2_Missense_Mutation_p.A111V NM_003818 NP_003809 O95674 CDS2_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA. 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 1 0 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 uc011dlm.2 + 0 620 c.518G>A c.(517-519)cGc>cAc p.R173H NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 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 1 0 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 uc010dmn.1 + 2 340 c.339C>T c.(337-339)aaC>aaT p.N113N DTNA_uc002kxu.2_Silent_p.N113N|DTNA_uc010xbx.2_Silent_p.N113N|DTNA_uc002kxv.4_Silent_p.N113N|DTNA_uc002kxw.2_Silent_p.N113N|DTNA_uc002kxx.2_Silent_p.N113N|DTNA_uc002kxz.2_Silent_p.N113N|DTNA_uc002kxy.2_Silent_p.N113N|DTNA_uc010dmj.3_Silent_p.N113N|DTNA_uc002kyb.4_Silent_p.N113N|DTNA_uc010dml.3_Silent_p.N113N|DTNA_uc010dmm.3_Silent_p.N113N NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 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 1 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 uc003kar.1 - 3 1185 c.467A>G c.(466-468)tAc>tGc p.Y156C NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Y156C|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA. 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 1 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 uc002rqd.3 - 11 2323 c.1768G>A c.(1768-1770)Gtt>Att p.V590I PRKD3_uc002rqe.1_Missense_Mutation_p.V190I|PRKD3_uc002rqf.1_Missense_Mutation_p.V590I NM_005813 NP_005804 O94806 KPCD3_HUMAN Homo sapiens protein kinase D3 (PRKD3), mRNA. 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 1 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 uc001ype.3 + 11 1352 c.1350T>G c.(1348-1350)ccT>ccG p.P450P ADSSL1_uc001ypd.3_Silent_p.P407P|ADSSL1_uc001ypf.3_Non-coding_Transcript NM_199165 NP_954634 Q8N142 PURA1_HUMAN Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA. 407 AMP biosynthetic process|immune system process|purine base metabolic process cytosol GTP binding|adenylosuccinate synthase activity|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 1 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 uc002egg.2 + 8 936 c.712C>T c.(712-714)Cgc>Tgc p.R238C NM_033119 NP_149110 Q969G9 NKD1_HUMAN Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA. 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 1 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 uc003aqc.4 + 3 620 c.448C>A c.(448-450)Ctg>Atg p.L150M CSF2RB_uc003aqa.4_Missense_Mutation_p.L150M NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 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 0 1 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 uc003xqz.2 - 4 652 c.496G>T c.(496-498)Gag>Tag p.E166* ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Nonsense_Mutation_p.E131*|ST18_uc011lds.1_Nonsense_Mutation_p.E71*|ST18_uc003xra.2_Nonsense_Mutation_p.E166*|ST18_uc003xrb.2_Nonsense_Mutation_p.E166* NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 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 0 1 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 uc010afh.3 - 1 896 c.469G>A c.(469-471)Gtg>Atg p.V157M DCT_uc001vlv.4_Missense_Mutation_p.V157M NM_001129889 NP_001123361 P40126 TYRP2_HUMAN Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA. 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 1 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 uc004fey.1 + 6 1056 c.832C>T c.(832-834)Ctt>Ttt p.L278F NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 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 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107869596 107869596 + Nonstop_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.chrX:107869596A>G uc004eob.1 + 19 2719 c.2087A>G c.(2086-2088)tAg>tGg p.*696W COL4A5_uc004enz.1_Intron|COL4A5_uc022ccg.1_Intron NM_000495 NP_000486 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 1, mRNA. 0 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTGGCATATAGTTTTAGGCA 0.373000 Alport syndrome with Diffuse Leiomyomatosis 33 76 0 0 1 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 uc003cgw.3 + 3 629 c.269G>A c.(268-270)cGg>cAg p.R90Q GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgv.3_Missense_Mutation_p.R68Q|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68Q|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90Q NM_001172713 NP_001166184 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA. 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 1 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 uc004cva.3 + 4 782 c.639C>T c.(637-639)gaC>gaT p.D213D PRPS2_uc004cvb.3_Silent_p.D210D|PRPS2_uc010nec.3_Intron NM_001039091 NP_001034180 P11908 PRPS2_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA. 210 Binding of phosphoribosylpyrophosphate (Potential). 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 1 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 uc010csx.1 + 3 473 c.459C>T c.(457-459)taC>taT p.Y153Y RHBDL3_uc002hhe.1_Silent_p.Y153Y|RHBDL3_uc010csw.1_Silent_p.Y145Y|RHBDL3_uc010csy.1_Silent_p.Y55Y|RHBDL3_uc002hhf.1_Silent_p.Y55Y P58872 RHBL3_HUMAN Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA. 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 1 0 0 CSF2RA 1438 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 uc010ncv.2 + 3 454 c.428C>T c.(427-429)aCg>aTg p.T143M CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T143M|CSF2RA_uc010nct.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T10M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T143M NM_001161530 NP_001155002 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 8, mRNA. 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 1 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 uc002yyq.1 - 10 2777 c.2325C>T c.(2323-2325)gaC>gaT p.D775D DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 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 1 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 uc011bjf.2 - 8 1988 c.1608G>T c.(1606-1608)gaG>gaT p.E536D GPR156_uc011bjg.2_Missense_Mutation_p.E532D NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 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 0 1 0 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 uc003thq.3 - 0 543 c.308T>C c.(307-309)aTa>aCa p.I103T INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.I103T|INHBA-AS1_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 103 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|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 1 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 uc003gyh.1 - 63 9454 c.8849T>C c.(8848-8850)aTa>aCa p.I2950T FRYL_uc003gye.1_Missense_Mutation_p.I132T|FRYL_uc003gyf.1_Missense_Mutation_p.I340T|FRYL_uc003gyg.1_Missense_Mutation_p.I1640T NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 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 1 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 uc001zhw.3 - 12 1944 c.1780C>T c.(1780-1782)Ctg>Ttg p.L594L SLC12A6_uc001zhv.3_Silent_p.L543L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L579L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L535L|SLC12A6_uc001zib.3_Silent_p.L585L|SLC12A6_uc001zic.3_Silent_p.L594L|SLC12A6_uc010bau.3_Silent_p.L594L|SLC12A6_uc001zid.3_Silent_p.L535L|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.L406L NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 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 1 0 0 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 uc001syx.3 - 1 357 c.71delA c.(70-72)aagfs p.K24fs NM_002583 NP_002574 Q96IZ0 PAWR_HUMAN Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA. 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 --- --- --- ---