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 LHFPL3 375612 broad.mit.edu 37 7 103969248 103969248 + Silent SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:103969248T>C ENST00000535008.1 + 1 145 c.21T>C c.(19-21)gcT>gcC p.A7A LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 0 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 ccgccgccgctgccgccgccg 0.721000 3 19 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30873680 30873680 + Splice_Site SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chrX:30873680C>A ENST00000378933.1 - 3 280 c.e3-1 TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378932.2_Splice_Site NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 TGTTGTTATTCTAGGGGAGAA 0.383000 3 32 1 1 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628246 29628246 + Missense_Mutation SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:29628246C>A ENST00000278882.3 + 6 628 c.248C>A c.(247-249)gCc>gAc p.A83D FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTGTTGGCCTCAAATAGC 0.353000 5 95 8.12818e-05 9.11943e-05 1 1 0 GALNTL6 442117 broad.mit.edu 37 4 173942682 173942682 + Missense_Mutation SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr4:173942682G>A ENST00000506823.1 + 12 2201 c.1544G>A c.(1543-1545)cGg>cAg p.R515Q GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 515 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.?(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CTGCATACCCGGAAATTCTGC 0.483000 15 63 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7886649 7886649 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:7886649G>A ENST00000377532.3 + 16 2291 c.2067G>A c.(2065-2067)gcG>gcA p.A689A PER3_ENST00000361923.2_Silent_p.A681A|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian clock 3 681 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCTGTCAGCGCACACCCAGA 0.507000 3 39 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42501775 42501775 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:42501775T>C ENST00000434000.1 - 7 482 c.200A>G c.(199-201)tAt>tGt p.Y67C GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.Y145C Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 145 G-patch. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATGTTTCTGATATTGCTTATC 0.393000 7 70 0 0 1 0 0 PRAMEF13 400736 broad.mit.edu 37 1 13448307 13448307 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:13448307A>G ENST00000376132.3 - 4 1270 c.1168T>C c.(1168-1170)Tct>Cct p.S390P NM_001024661.1 NP_001019832.1 Q5VWM6 PRA13_HUMAN PRAME family member 13 390 breast(1)|large_intestine(1)|lung(3)|skin(2) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCACCCATAGACATACAATTT 0.557000 13 103 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607400 46607400 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:46607400C>T ENST00000263734.3 + 12 2099 c.1589C>T c.(1588-1590)gCa>gTa p.A530V NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 530 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GAGACACTGGCACCCTATATC 0.592000 45 42 0 0 1 0 0 C20orf96 140680 broad.mit.edu 37 20 257758 257758 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:257758C>T ENST00000360321.2 - 8 890 c.752G>A c.(751-753)cGc>cAc p.R251H C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H|C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 251 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GACCTTTCTGCGCATCTCACC 0.557000 4 234 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48419816 48419816 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:48419816A>G ENST00000296438.5 + 6 601 c.415A>G c.(415-417)Atc>Gtc p.I139V FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|FBXW12_ENST00000415155.1_Intron NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 139 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGTACCATGATCTGGTCAAG 0.458000 4 37 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14676088 14676088 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr16:14676088T>C ENST00000437198.2 - 17 1283 c.1142A>G c.(1141-1143)tAc>tGc p.Y381C PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C|PARN_ENST00000341484.7_Missense_Mutation_p.Y320C NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 381 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 GTAGGCATCGTAGCCTGCCTC 0.448000 12 166 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48976617 48976617 + Missense_Mutation SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr19:48976617A>G ENST00000427476.1 + 5 716 c.416A>G c.(415-417)aAt>aGt p.N139S CYTH2_ENST00000452733.2_Missense_Mutation_p.N139S NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 139 SEC7. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 ACCGACCTCAATCTGGTGCAG 0.517000 4 56 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 60 0.014758 0.0154288 1 1 0 S1PR1 1901 broad.mit.edu 37 1 101705533 101705533 + Silent SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:101705533C>T ENST00000305352.6 + 2 1368 c.993C>T c.(991-993)tgC>tgT p.C331C NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 331 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.C331C(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCTGCAAGTGCCCGAGCGGAG 0.562000 5 162 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36690155 36690155 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr22:36690155T>C ENST00000216181.5 - 28 4050 c.3820A>G c.(3820-3822)Aag>Gag p.K1274E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1274 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGGTGACCTTGTCGGCCAGC 0.657000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 17 29 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13721122 13721122 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr5:13721122T>C ENST00000265104.4 - 71 12370 c.12266A>G c.(12265-12267)cAg>cGg p.Q4089R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4089 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCCATGGTCTGCTGCAAGAG 0.428000 Kartagener syndrome 5 69 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24784270 24784270 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:24784270G>A ENST00000342947.3 - 3 740 c.315C>T c.(313-315)ggC>ggT p.G105G DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G|DFNA5_ENST00000545231.1_5'UTR NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 105 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CGCGGCTGCTGCCCCCCAGGT 0.557000 5 71 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729264 22729264 + RNA SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr4:22729264G>A ENST00000511446.1 + 0 61 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTTGGACAGTGGTGAGTTATC 0.403000 6 185 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13116474 13116474 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr18:13116474T>C ENST00000506447.1 + 43 7468 c.7388T>C c.(7387-7389)cTg>cCg p.L2463P CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1867P|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 2058 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAAGTCAATCTGCGAAATAAT 0.413000 8 44 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606174 82606174 + Missense_Mutation SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr8:82606174G>A ENST00000518568.1 - 1 2235 c.1034C>T c.(1033-1035)gCt>gTt p.A345V NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 345 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CAAACCCAAAGCAGGAACTAA 0.368000 3 43 0 0 1 0 0 XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:168510202G>A ENST00000367819.2 - 3 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498000 3 27 0 0 1 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224859 20224859 + RNA SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:20224859G>A ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA CACGATGTCCGCCTGGAAGAT 0.642000 57 152 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 4 57 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6902684 6902684 + Missense_Mutation SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:6902684G>A ENST00000251535.6 + 6 759 c.706G>A c.(706-708)Gcc>Acc p.A236T AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 236 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CCTCAATGGTGCCAACCCCAT 0.547000 4 56 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 3 42 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36249220 36249220 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr9:36249220C>T ENST00000396594.3 - 2 337 c.226G>A c.(226-228)Gta>Ata p.V76I GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.V45I|GNE_ENST00000447283.2_Missense_Mutation_p.V45I|GNE_ENST00000377902.5_Missense_Mutation_p.V45I NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 45 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) GAGCCAAGTACCACAACATCA 0.413000 7 77 0 0 1 0 0 AZIN1 51582 broad.mit.edu 37 8 103855864 103855864 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr8:103855864T>G ENST00000337198.5 - 3 1180 c.17A>C c.(16-18)gAt>gCt p.D6A AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 6 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) GTTTGCATCATCAATAAATCC 0.423000 11 50 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26882066 26882066 + Missense_Mutation SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:26882066T>C ENST00000308360.7 - 11 1570 c.1195A>G c.(1195-1197)Att>Gtt p.I399V PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|PIGS_ENST00000395346.2_Missense_Mutation_p.I391V NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 399 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GGCTGAGCAATCCCAAAGAGC 0.542000 5 9 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60701439 60701439 + Missense_Mutation SNP G G T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:60701439G>T ENST00000253001.4 + 3 577 c.371G>T c.(370-372)gGc>gTc p.G124V LSM14B_ENST00000279068.6_Missense_Mutation_p.G124V|LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 124 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GCGCCCTACGGCCCGCTGGCG 0.627000 8 33 0.00307968 0.00337298 1 1 0 PCLO 27445 broad.mit.edu 37 7 82389988 82389988 + Silent SNP T T C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:82389988T>C ENST00000333891.8 - 24 15592 c.15255A>G c.(15253-15255)cgA>cgG p.R5085R NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 5008 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTAGACTGAATCGAAAAGTTT 0.318000 30 32 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 44 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74383970 74383970 + Silent SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:74383970C>A ENST00000263665.6 - 12 1611 c.1584G>T c.(1582-1584)ctG>ctT p.L528L NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 528 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGATGTCTAACAGCGGGTCAT 0.438000 5 65 5.9392e-07 6.83008e-07 1 1 0 IGHV3-66 28412 broad.mit.edu 37 14 107131441 107131441 + RNA SNP A A G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr14:107131441A>G ENST00000390632.2 - 0 119 ATCACCTTTTAAAATAGCAAC 0.453000 4 149 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119451227 119451227 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:119451227T>G ENST00000273390.5 + 9 1182 c.1105T>G c.(1105-1107)Tca>Gca p.S369A NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 TGATTATGCATCACAGGTCTA 0.368000 18 61 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60581703 60581703 + Missense_Mutation SNP C C T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr20:60581703C>T ENST00000252996.3 - 7 2085 c.2086G>A c.(2086-2088)Gtg>Atg p.V696M TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 696 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCAGCACCACGGCCGTGAGC 0.716000 4 25 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699978 17699978 + Missense_Mutation SNP T T G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:17699978T>G ENST00000353383.1 + 3 4185 c.3716T>G c.(3715-3717)cTg>cGg p.L1239R RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1239 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AAGCGGAACCTGGTCTTGCGG 0.642000 6 26 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468448 56468448 + Missense_Mutation SNP C C G TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr3:56468448C>G ENST00000288221.6 - 2 843 c.588G>C c.(586-588)ttG>ttC p.L196F NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 196 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTTCTTTCCTCAAGACTCTCT 0.458000 21 59 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890554 229890554 + Missense_Mutation SNP C C A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:229890554C>A ENST00000392054.3 - 4 880 c.541G>T c.(541-543)Gtc>Ttc p.V181F PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.V101F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000354069.6_Missense_Mutation_p.V183F NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 183 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCCCTGTAGACCCAGGCGAAG 0.602000 4 68 0.00909568 0.00973026 1 1 0 OIT3 170392 broad.mit.edu 37 10 74673076 74673076 + Silent SNP G G A TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr10:74673076G>A ENST00000334011.5 + 6 1019 c.801G>A c.(799-801)ttG>ttA p.L267L NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 267 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TCCCTGTGTTGTGCAAATCAA 0.522000 9 173 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48701954 48701954 + Missense_Mutation SNP G G C TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:48701954G>C ENST00000294952.8 + 12 1378 c.1221G>C c.(1219-1221)ttG>ttC p.L407F PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 407 endometrium(2)|kidney(4)|lung(9) 15 TTCTTGCCTTGCCAAGTAAGT 0.443000 3 59 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 4 4 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240256975 240256975 + Frame_Shift_Del DEL G G - TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr1:240256975delG ENST00000319653.9 + 1 1796 c.1566delG c.(1564-1566)aafs p.K522fs NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 522 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGGCCGCCAAGGCGTCTGGGG 0.731 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 4 2 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 3 6 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 4 5 --- --- --- --- ITGA3 3675 broad.mit.edu 37 17 48165686 48165686 + Frame_Shift_Del DEL C C - TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr17:48165686delC ENST00000320031.8 + 25 3473 c.3143delC c.(3142-3144)acfs p.T1048fs ITGA3_ENST00000007722.7_Intron NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 1048 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GAGAGGCTGACCGACGACTAC 0.687 2 4 --- --- --- --- CLEC17A 388512 broad.mit.edu 37 19 14694175 14694176 + In_Frame_Ins INS - - GGA rs34295949 TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chr19:14694175_14694176insGGA ENST00000547437.1 + 2 127_128 c.50_51insGGA c.(49-51)aga>aGGAga p.17_17R>RR CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 17 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GAAGGGACCATGGAGGAGGAGG 0.579 7 8 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-WB-A821-01A-11D-A35I-08 TCGA-WB-A821-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2afcaca7-8917-4586-b338-88e7a6b2547e 8228ec6a-dd1e-4729-9e22-07800658097b g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 38 --- --- --- ---