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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NDST4 64579 broad.mit.edu 37 4 115767006 115767006 + Silent SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr4:115767006G>A uc003ibu.3 - 9 2767 c.2088C>T c.(2086-2088)ccC>ccT p.P696P NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 696 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCTGTCTGAGGGGTCAATGA 0.423000 31 15 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89180886 89180886 + Missense_Mutation SNP C T T rs144907664 TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr16:89180886C>T uc010cig.2 + 4 1325 c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C ACSF3_uc010cih.2_Missense_Mutation_p.R108C|ACSF3_uc002fmp.3_Missense_Mutation_p.R373C|ACSF3_uc021tmq.1_Missense_Mutation_p.R373C|ACSF3_uc010cii.2_Non-coding_Transcript NM_001127214 NP_777577 Q4G176 ACSF3_HUMAN Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 373 fatty acid metabolic process mitochondrion ATP binding|acid-thiol ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CACTGCCGTGCGCCTGCCAGG 0.632000 49 8 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154221393 154221393 + Missense_Mutation SNP C A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:154221393C>A uc004fmt.3 - 3 590 c.419G>T c.(418-420)aGg>aTg p.R140M F8_uc011mzx.1_Missense_Mutation_p.R105M NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 140 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTTTCTCCCTTTGACTGGT 0.418000 110 8 0.000157383 0.000185487 1 1 0 PTCH2 8643 broad.mit.edu 37 1 45294274 45294274 + Silent SNP C T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr1:45294274C>T uc010olf.2 - 11 1506 c.1494G>A c.(1492-1494)acG>acA p.T498T PTCH2_uc021omv.1_Silent_p.T498T|PTCH2_uc010olg.2_Silent_p.T196T NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 498 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity p.T498M(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CACTGGTGCCCGTGCGCTGCA 0.627000 Basal Cell Nevus syndrome 17 6 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605230 140605230 + Missense_Mutation SNP G T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:140605230G>T uc003ljb.3 + 0 2153 c.2153G>T c.(2152-2154)aGg>aTg p.R718M NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 718 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGGAGCAGGGCGGCCTCG 0.667000 192 5 0.00198382 0.0021822 1 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr15:79059041T>C uc002bej.4 - 18 3423 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(8)|p.N1071N(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 37 4 0 0 1 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238708 21238708 + Silent SNP T G G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr14:21238708T>G uc021ron.1 + 0 399 c.399T>G c.(397-399)gtT>gtG p.V133V EDDM3B_uc001vyd.3_Silent_p.V133V NM_022360 NP_071755 P56851 EP3B_HUMAN Homo sapiens epididymal protein 3B (EDDM3B), mRNA. 133 spermatid development extracellular region central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 ACGGGTATGTTGATAGCATAG 0.413000 18 11 0 0 1 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2525 2525 + RNA SNP C A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrGL000237.1:2525C>A uc011mgu.1 - 0 c.162G>T Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ctcaggccaccctcctaacac 0.637000 17 3 0.004672 0.004818 1 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276936 71276936 + Silent SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr11:71276936G>A uc001oqt.1 + 0 328 c.303G>A c.(301-303)aaG>aaA p.K101K NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 101 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTCCAAGGGGGGCTGTG 0.692000 117 4 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62705241 62705241 + Silent SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr20:62705241G>A uc002yhy.3 - 5 886 c.619C>T c.(619-621)Ctg>Ttg p.L207L RGS19_uc002yhz.3_Silent_p.L185L|RGS19_uc002yib.3_Silent_p.L207L NM_005873 NP_001034556 P49795 RGS19_HUMAN Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA. 207 Interaction with GIPC. G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGCCCCTGCAGCAGCAGGGCA 0.672000 67 4 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39889762 39889762 + Silent SNP C T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr1:39889762C>T uc021olw.1 + 24 11532 c.11532C>T c.(11530-11532)ggC>ggT p.G3844G MACF1_uc021ols.1_Silent_p.G3342G|MACF1_uc001cdc.2_Silent_p.G3321G|MACF1_uc021olt.1_Silent_p.G3342G|MACF1_uc001cda.1_Silent_p.G3229G NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 5409 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAAGGAGGCAGAATAGCCC 0.468000 54 6 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97396902 97396902 + Missense_Mutation SNP A G G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr10:97396902A>G uc001kkz.3 - 4 748 c.506T>C c.(505-507)cTg>cCg p.L169P ALDH18A1_uc001kky.3_Missense_Mutation_p.L169P|ALDH18A1_uc010qog.2_Missense_Mutation_p.L58P|ALDH18A1_uc010qoh.2_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 169 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CAAGGCCATCAGCCCACTCTG 0.537000 27 3 0 0 1 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2505 2505 + RNA SNP A C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrGL000237.1:2505A>C uc011mgu.1 - 0 c.182T>G Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ctccagccccaatcctactgc 0.627000 22 4 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862406 8862406 + Silent SNP C T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr20:8862406C>T uc002wnb.3 + 31 3564 c.3561C>T c.(3559-3561)tcC>tcT p.S1187S PLCB1_uc002wna.3_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 1187 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCTCCCTGTCCTCAGACCCTG 0.507000 97 14 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109696380 109696380 + Missense_Mutation SNP G C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:109696380G>C uc004eor.2 + 2 2781 c.2535G>C c.(2533-2535)atG>atC p.M845I RGAG1_uc011msr.1_Missense_Mutation_p.M845I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 845 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CTGGAGCAATGTCCATGCCAC 0.527000 110 66 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714208 150714208 + Missense_Mutation SNP A G G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr7:150714208A>G uc011kvc.2 - 8 2280 c.2204T>C c.(2203-2205)gTa>gCa p.V735A ATG9B_uc003wig.4_Non-coding_Transcript NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 735 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCTTGTTGTACTCGGCCCCA 0.652000 11 5 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827034 43827034 + Silent SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr15:43827034G>A uc001zrw.3 - 30 4344 c.4140C>T c.(4138-4140)atC>atT p.I1380I PPIP5K1_uc021sjw.1_Silent_p.I1355I|PPIP5K1_uc001zrx.2_Silent_p.I1353I|PPIP5K1_uc001zry.4_Silent_p.I1355I|PPIP5K1_uc021sjx.1_Silent_p.I309I NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA. 1380 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GGTATGGCTGGATGACCTCCT 0.527000 46 18 0 0 1 0 0 MRPS30 10884 broad.mit.edu 37 5 44811183 44811183 + Missense_Mutation SNP G T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:44811183G>T uc003joh.3 + 1 712 c.674G>T c.(673-675)cGa>cTa p.R225L MRPS30_uc003joi.1_Non-coding_Transcript NM_016640 NP_057724 Q9NP92 RT30_HUMAN Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA. 225 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) CGAAGAGGTCGAATTGATGAC 0.363000 56 3 1 1 1 1 0 ZNF280C 55609 broad.mit.edu 37 X 129362988 129362988 + Silent SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:129362988G>A uc004evm.3 - 9 1313 c.1110C>T c.(1108-1110)tgC>tgT p.C370C ZNF280C_uc010nrf.2_Silent_p.C370C NM_017666 NP_060136 Q8ND82 Z280C_HUMAN Homo sapiens zinc finger protein 280C (ZNF280C), mRNA. 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCTCAATGTGGCACTGCAGTT 0.448000 83 22 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140262696 140262696 + Silent SNP T C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:140262696T>C uc003lif.2 + 0 843 c.843T>C c.(841-843)ttT>ttC p.F281F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F281F|PCDHAC2_uc003lid.3_Silent_p.F281F NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 296 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTACTCATTTAGAAGGCCTG 0.383000 62 3 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140953275 140953275 + Missense_Mutation SNP G T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:140953275G>T uc011mwp.2 + 1 142 c.142G>T c.(142-144)Gat>Tat p.D48Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 48 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGCCACAGATAAGGACTA 0.493000 35 12 0.00185496 0.00211081 1 1 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2516 2516 + RNA SNP T C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrGL000237.1:2516T>C uc011mgu.1 - 0 c.171A>G Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. atcctactgctcaggccaccc 0.632000 21 4 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166580164 166580164 + Silent SNP C T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr6:166580164C>T uc003qut.1 - 1 673 c.387G>A c.(385-387)tcG>tcA p.S129S T_uc003quu.1_Silent_p.S129S|T_uc003quv.1_Silent_p.S129S NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 129 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGAAGTTGGGCGAGTCGGGGT 0.657000 Chordoma, Familial Clustering of 51 10 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14063135 14063135 + Missense_Mutation SNP G A A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr11:14063135G>A uc001mle.3 + 2 681 c.413G>A c.(412-414)cGg>cAg p.R138Q NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 138 Reelin. 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) AGCACTCCACGGAGGAGGACC 0.468000 49 26 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57750746 57750746 + Missense_Mutation SNP T C C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:57750746T>C uc003jrn.3 - 12 2038 c.1858A>G c.(1858-1860)Acc>Gcc p.T620A PLK2_uc021xyx.1_Missense_Mutation_p.T606A NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 620 POLO box 2. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ACCTGAAAGGTGCCATCATTA 0.403000 85 47 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21216993 21216993 + Silent SNP G T T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr9:21216993G>T uc003zor.1 - 0 318 c.312C>A c.(310-312)ctC>ctA p.L104L IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 104 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATTTGTCTAGGAGGGTCTCAT 0.483000 63 20 6.33239e-15 7.73958e-15 1 1 0