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 SPTA1 6708 broad.mit.edu 37 1 158639553 158639553 + Silent SNP T T C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr1:158639553T>C ENST00000368147.4 - 13 1803 c.1623A>G c.(1621-1623)aaA>aaG p.K541K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACCAATCAATTTGGTTGCAG 0.418 103 170 --- --- --- --- PDIA6 10130 broad.mit.edu 37 2 10929048 10929048 + Silent SNP A A T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr2:10929048A>T ENST00000404371.2 - 11 1393 c.1056T>A c.(1054-1056)gcT>gcA p.A352A PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000540494.1_Silent_p.A297A NM_001282704.1 NP_001269633.1 Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 300 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) GGGGCAGCACAGCCACAACAC 0.463 50 81 --- --- --- --- CD207 50489 broad.mit.edu 37 2 71058862 71058862 + Missense_Mutation SNP T T C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr2:71058862T>C ENST00000410009.3 - 5 851 c.806A>G c.(805-807)gAc>gGc p.D269G NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 269 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GAATGGCGTGTCATCCACCCA 0.572 33 30 --- --- --- --- DGUOK 1716 broad.mit.edu 37 2 74166089 74166089 + Missense_Mutation SNP G G T rs140307681 TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr2:74166089G>T ENST00000264093.4 + 2 280 c.195G>T c.(193-195)tgG>tgT p.W65C DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 65 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 ACCCAGAATGGCACGTAGCTA 0.473 4 62 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055181 100055181 + Silent SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr2:100055181C>T ENST00000258428.3 - 6 1323 c.1095G>A c.(1093-1095)aaG>aaA p.K365K REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 365 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAATTCACACTTCCACATTG 0.383 Direct reversal of damage 18 137 --- --- --- --- RBM44 375316 broad.mit.edu 37 2 238726721 238726721 + Missense_Mutation SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr2:238726721G>T ENST00000316997.4 + 3 1294 c.1162G>T c.(1162-1164)Gat>Tat p.D388Y RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 387 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TGTTTTTGATGATTCGATAAT 0.403 15 49 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89457246 89457246 + Missense_Mutation SNP C C A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr3:89457246C>A ENST00000336596.2 + 9 1952 c.1727C>A c.(1726-1728)gCa>gAa p.A576E EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 576 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAACATGGGGCAGATGAAAAA 0.353 TSP Lung(6;0.00050) 21 131 --- --- --- --- UBE2D3 7323 broad.mit.edu 37 4 103720584 103720584 + Silent SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr4:103720584G>T ENST00000453744.2 - 7 891 c.378C>A c.(376-378)atC>atA p.I126I UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I NM_181891.1 NP_871620.1 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 126 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(3)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) CTGTTTTATAGATCCGTGCAA 0.358 9 37 --- --- --- --- CENPE 1062 broad.mit.edu 37 4 104030222 104030222 + Missense_Mutation SNP C C A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr4:104030222C>A ENST00000265148.3 - 48 7838 c.7749G>T c.(7747-7749)gaG>gaT p.E2583D CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2583 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AAGTTTTGACCTCATTGGAAA 0.353 4 65 --- --- --- --- OFCC1 266553 broad.mit.edu 37 6 9933495 9933495 + Missense_Mutation SNP T T A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr6:9933495T>A ENST00000316020.6 - 3 262 c.263A>T c.(262-264)aAg>aTg p.K88M OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TTCAGCCGACTTGGATTTCTT 0.368 11 53 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32036414 32036414 + Silent SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr6:32036414C>T ENST00000375244.3 - 17 6174 c.5973G>A c.(5971-5973)ggG>ggA p.G1991G TNXB_ENST00000375247.2_Silent_p.G1991G P22105 TENX_HUMAN tenascin XB 2073 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGGTCAGCTCCCCCAGGCGAG 0.612 7 76 --- --- --- --- MOXD1 26002 broad.mit.edu 37 6 132722436 132722436 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr6:132722436G>A ENST00000367963.3 - 1 248 c.130C>T c.(130-132)Cgg>Tgg p.R44W MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 44 DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TGGCTGCCCCGCTGGCTCCAG 0.731 3 15 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157150545 157150545 + Missense_Mutation SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr6:157150545C>T ENST00000346085.5 + 2 1728 c.1727C>T c.(1726-1728)cCt>cTt p.P576L ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 576 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ATGCAGTACCCTCAGCAGCAG 0.542 4 45 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157150550 157150550 + Nonsense_Mutation SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr6:157150550C>T ENST00000346085.5 + 2 1733 c.1732C>T c.(1732-1734)Cag>Tag p.Q578* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 578 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTACCCTCAGCAGCAGGTTTG 0.547 4 45 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 22985646 22985646 + Silent SNP A A G TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr7:22985646A>G ENST00000432176.2 - 11 1360 c.1128T>C c.(1126-1128)agT>agC p.S376S FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 376 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TCTTTCCTATACTTGGCTTGT 0.423 67 139 --- --- --- --- DGKI 9162 broad.mit.edu 37 7 137294314 137294314 + Missense_Mutation SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr7:137294314G>T ENST00000453654.2 - 9 674 c.135C>A c.(133-135)agC>agA p.S45R DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TTCTTTTAAAGCTTGTTCTCT 0.438 8 42 --- --- --- --- SDAD1P1 157489 broad.mit.edu 37 8 26239000 26239000 + RNA SNP G G C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr8:26239000G>C ENST00000519902.1 - 0 948 CTGCAGTCAGGTTGCTGGGCA 0.488 5 15 --- --- --- --- OLFM1 10439 broad.mit.edu 37 9 138011425 138011425 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr9:138011425G>A ENST00000252854.4 + 6 992 c.805G>A c.(805-807)Gac>Aac p.D269N OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 287 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CATGAACACGGACAATTTCAC 0.547 32 60 --- --- --- --- ZNF33A 7581 broad.mit.edu 37 10 38343826 38343826 + Silent SNP T T C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr10:38343826T>C ENST00000374618.3 + 5 952 c.774T>C c.(772-774)gaT>gaC p.D258D ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 257 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CTTTGTGTGATAGTTCATCCC 0.388 11 64 --- --- --- --- HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 37 91 --- --- --- --- OR5L1 219437 broad.mit.edu 37 11 55579666 55579666 + Missense_Mutation SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr11:55579666G>T ENST00000333973.2 + 1 813 c.724G>T c.(724-726)Gct>Tct p.A242S NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTCCACCTGTGCTTCCCACCT 0.512 25 109 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 102029302 102029302 + Missense_Mutation SNP C C G TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr13:102029302C>G ENST00000251127.6 - 5 562 c.481G>C c.(481-483)Gaa>Caa p.E161Q NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 161 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTGGCAGTTCAAATCGGAAA 0.373 11 60 --- --- --- --- SNW1 22938 broad.mit.edu 37 14 78205374 78205374 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr14:78205374G>A ENST00000261531.7 - 4 423 c.361C>T c.(361-363)Cca>Tca p.P121S SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 121 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ACCTCCTTTGGAACCAGGTCA 0.383 30 346 --- --- --- --- DLL4 54567 broad.mit.edu 37 15 41229089 41229089 + Missense_Mutation SNP A A C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr15:41229089A>C ENST00000249749.5 + 9 2180 c.1904A>C c.(1903-1905)gAc>gCc p.D635A NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 635 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCCCACAGTGACAAGAGCTTA 0.602 17 7 --- --- --- --- FAM227B 196951 broad.mit.edu 37 15 49800527 49800527 + Missense_Mutation SNP C C A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr15:49800527C>A ENST00000299338.6 - 11 1196 c.893G>T c.(892-894)gGc>gTc p.G298V FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V NM_152647.2 NP_689860.2 family with sequence similarity 227, member B GATCCAAAAGCCTTTTTGAGG 0.313 24 35 --- --- --- --- TELO2 9894 broad.mit.edu 37 16 1556317 1556317 + Nonsense_Mutation SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:1556317C>T ENST00000262319.6 + 17 2392 c.2113C>T c.(2113-2115)Cag>Tag p.Q705* TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 705 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CCCCCTCCTTCAGCGCTTTGA 0.637 10 82 --- --- --- --- PAQR4 124222 broad.mit.edu 37 16 3019808 3019808 + Missense_Mutation SNP C C G TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:3019808C>G ENST00000318782.8 + 1 563 c.133C>G c.(133-135)Ctg>Gtg p.L45V PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PKMYT1_ENST00000571102.1_Intron NM_001284513.1|NM_152341.3 NP_001271442.1|NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 45 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 CCTCTTCTACCTGCACAACGA 0.697 3 38 --- --- --- --- PAQR4 124222 broad.mit.edu 37 16 3021853 3021853 + Silent SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:3021853C>T ENST00000318782.8 + 3 1156 c.726C>T c.(724-726)atC>atT p.I242I PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000574988.1_Silent_p.I175I NM_001284513.1|NM_152341.3 NP_001271442.1|NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 242 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 CCCACCAGATCATGCACCTGC 0.677 7 39 --- --- --- --- COQ7 10229 broad.mit.edu 37 16 19089458 19089458 + Missense_Mutation SNP T T C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:19089458T>C ENST00000321998.5 + 6 698 c.632T>C c.(631-633)aTa>aCa p.I211T COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 211 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 AGAGTGGCGATATATTTATCA 0.388 8 47 --- --- --- --- USP31 57478 broad.mit.edu 37 16 23080883 23080883 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:23080883G>A ENST00000219689.7 - 16 2542 c.2543C>T c.(2542-2544)tCc>tTc p.S848F USP31_ENST00000567975.1_Missense_Mutation_p.S141F NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 848 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AGAAGATCTGGATGACAAACT 0.468 9 49 --- --- --- --- SCNN1B 6338 broad.mit.edu 37 16 23364121 23364121 + Splice_Site SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr16:23364121G>T ENST00000343070.2 + 3 487 c.e3-1 SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCCCCATCCAGGTATTCCAAA 0.502 8 104 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42455141 42455141 + Silent SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:42455141G>T ENST00000262407.5 - 21 2143 c.2112C>A c.(2110-2112)atC>atA p.I704I ITGA2B_ENST00000353281.4_Silent_p.I704I NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 704 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TCTGATTACAGATGAGTCTCT 0.478 7 52 --- --- --- --- MKS1 54903 broad.mit.edu 37 17 56291167 56291167 + Missense_Mutation SNP G G C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:56291167G>C ENST00000393119.2 - 7 782 c.708C>G c.(706-708)atC>atG p.I236M MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 236 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTTACTGTGATCACACCAT 0.478 28 37 --- --- --- --- PRKCA 5578 broad.mit.edu 37 17 64683317 64683317 + Missense_Mutation SNP T T A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:64683317T>A ENST00000413366.3 + 6 644 c.618T>A c.(616-618)aaT>aaA p.N206K NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 206 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ATCCCAAGAATGAAAGCAAGC 0.408 62 124 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67300814 67300814 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:67300814G>A ENST00000392676.3 - 7 990 c.926C>T c.(925-927)tCa>tTa p.S309L ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 309 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ACTTACAGATGATAATCCATA 0.323 5 34 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67300891 67300891 + Silent SNP G G C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:67300891G>C ENST00000392676.3 - 7 913 c.849C>G c.(847-849)gtC>gtG p.V283V ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 283 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTGTCGCAATGACTGCCATAA 0.323 13 73 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67309242 67309242 + Missense_Mutation SNP G G C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:67309242G>C ENST00000392676.3 - 3 362 c.298C>G c.(298-300)Cta>Gta p.L100V ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 100 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCATCAGGTAGATGATCAGTA 0.313 8 69 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67309305 67309305 + Missense_Mutation SNP G G C TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:67309305G>C ENST00000392676.3 - 3 299 c.235C>G c.(235-237)Ctt>Gtt p.L79V ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 79 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GTATATCCAAGAATTAGATTA 0.318 7 66 --- --- --- --- RAB37 326624 broad.mit.edu 37 17 72741156 72741156 + Missense_Mutation SNP G G A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr17:72741156G>A ENST00000340415.3 + 8 1487 c.478G>A c.(478-480)Gtt>Att p.V160I RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 167 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GGAGTACGGTGTTCCCTTCCT 0.617 OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 65 --- --- --- --- PGLYRP2 114770 broad.mit.edu 37 19 15586948 15586948 + Missense_Mutation SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr19:15586948G>T ENST00000292609.4 - 2 662 c.533C>A c.(532-534)cCa>cAa p.P178Q PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 178 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GGTGACATCTGGAGAGCCATC 0.542 7 127 --- --- --- --- FUT2 2524 broad.mit.edu 37 19 49207194 49207194 + Silent SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr19:49207194G>T ENST00000425340.2 + 2 1098 c.981G>T c.(979-981)ctG>ctT p.L327L FUT2_ENST00000391876.4_Silent_p.L327L NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 327 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CAGCCTTCCTGCCGGAGTGGA 0.567 18 97 --- --- --- --- PPFIA3 8541 broad.mit.edu 37 19 49633700 49633700 + Silent SNP C C T rs142815673 byFrequency TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr19:49633700C>T ENST00000334186.4 + 7 1072 c.723C>T c.(721-723)gcC>gcT p.A241A PPFIA3_ENST00000602351.1_Silent_p.A241A NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 241 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGGAGGAGGCCCTGGAGCGGC 0.687 4 11 --- --- --- --- TRMT6 51605 broad.mit.edu 37 20 5931051 5931051 + Translation_Start_Site SNP T T A TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a1706aa-9a73-4b24-b51d-56d3764ea665 0c6efb93-b45f-4607-a8cf-c8b24859ad5d g.chr20:5931051T>A ENST00000203001.2 - 1 131 c.1A>T c.(1-3)Atg>Ttg p.M1L TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 1 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GAGCCCTCCATGACGCTCAGC 0.677 8 33 --- --- --- ---