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 ZNF19 7567 broad.mit.edu 37 16 71509834 71509834 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:71509834G>A ENST00000288177.5 - 6 871 c.616C>T c.(616-618)Cgg>Tgg p.R206W ZNF19_ENST00000565100.2_Missense_Mutation_p.R136W|ZNF19_ENST00000565637.1_Missense_Mutation_p.R164W|ZNF19_ENST00000564230.1_Missense_Mutation_p.R206W|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 206 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) CTCTGGTGCCGAATTAACGAA 0.443000 46 41 0 0 0.870114 0 0 WDR1 9948 broad.mit.edu 37 4 10083023 10083023 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:10083023G>A ENST00000382452.2 - 11 1524 c.1242C>T c.(1240-1242)gcC>gcT p.A414A WDR1_ENST00000382451.2_Silent_p.A274A|WDR1_ENST00000499869.2_Silent_p.A414A|WDR1_ENST00000502702.1_Silent_p.A274A|WDR1_ENST00000515743.1_5'UTR NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 414 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CGGGGCCGACGGCTACGCACT 0.572000 3 70 0 0 0.150653 0 0 GCOM1 145781 broad.mit.edu 37 15 57925871 57925871 + Nonsense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:57925871G>T ENST00000574161.1 + 8 984 c.865G>T c.(865-867)Gag>Tag p.E289* MYZAP_ENST00000380565.4_Nonsense_Mutation_p.E289*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.E289*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.E220*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.E258*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.E289*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.E258*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.E289*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.E289* NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 289 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GCAAGCAGCAGAGATCAGCCT 0.473000 5 139 0.000157383 0.000172676 0.278610 1 0 FASTKD5 60493 broad.mit.edu 37 20 3128841 3128841 + Silent SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr20:3128841A>C ENST00000380266.3 - 2 1197 c.876T>G c.(874-876)cgT>cgG p.R292R UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 292 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GGGATACCTGACGATTTTCAC 0.343000 14 150 0 0 0.457914 0 0 CARD11 84433 broad.mit.edu 37 7 2956977 2956977 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:2956977G>A ENST00000396946.4 - 20 3053 c.2650C>T c.(2650-2652)Cgg>Tgg p.R884W NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 884 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGGCTGACCCGGGGGTCGCTT 0.547000 Mis DLBCL 11 63 0 0 0.387290 0 0 SEC61B 10952 broad.mit.edu 37 9 101992659 101992659 + Missense_Mutation SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:101992659G>C ENST00000498603.1 + 4 349 c.82G>C c.(82-84)Gct>Cct p.A28P SEC61B_ENST00000223641.4_Missense_Mutation_p.A82P P60468 SC61B_HUMAN Sec61 beta subunit 82 ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport endoplasmic reticulum Sec complex|integral to membrane epidermal growth factor binding kidney(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(62;0.0559) TCTGTTCATCGCTTCTGTATT 0.373000 8 401 0 0 0.307466 0 0 BTN3A2 11118 broad.mit.edu 37 6 26370583 26370583 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:26370583G>T ENST00000356386.2 + 5 655 c.467G>T c.(466-468)gGt>gTt p.G156V BTN3A2_ENST00000377708.2_Missense_Mutation_p.G156V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G156V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G114V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G133V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G156V NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 156 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GAAGTGAAGGGTTATGAGGAT 0.517000 7 146 2.7689e-08 3.26248e-08 0.248553 1 0 TTN 7273 broad.mit.edu 37 2 179436612 179436612 + Nonsense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:179436612C>T ENST00000589042.1 - 326 74471 c.74247G>A c.(74245-74247)tgG>tgA p.W24749* TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W23108*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W15684*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W15876*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W15809*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W22181*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23108 Fibronectin type-III 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTTTATGCCAGGTTACAG 0.443000 4 155 0 0 0.150653 0 0 TARS 6897 broad.mit.edu 37 5 33455798 33455798 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:33455798G>A ENST00000265112.3 + 6 993 c.682G>A c.(682-684)Gca>Aca p.A228T TARS_ENST00000541634.1_Missense_Mutation_p.A124T|TARS_ENST00000502553.1_Missense_Mutation_p.A228T|TARS_ENST00000455217.2_Missense_Mutation_p.A261T|TARS_ENST00000414361.2_Missense_Mutation_p.A107T NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 228 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity p.A228S(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) AACTTTACTGGCAATGTTTAA 0.373000 16 195 0 0 0.500413 0 0 TAS2R19 259294 broad.mit.edu 37 12 11174543 11174543 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:11174543G>A ENST00000390673.2 - 1 676 c.628C>T c.(628-630)Cgg>Tgg p.R210W PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 210 sensory perception of taste integral to membrane G-protein coupled receptor activity p.R210W(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTATGGAGCCGCATCTTCTTG 0.403000 7 250 0 0 0.248553 0 0 RRAGC 64121 broad.mit.edu 37 1 39322630 39322630 + Missense_Mutation SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:39322630A>C ENST00000373001.3 - 2 538 c.362T>G c.(361-363)aTg>aGg p.M121R NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 121 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) AAAAAAGTCCATTTGCCCAGG 0.398000 62 177 0 0 0.870114 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768487 77768487 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:77768487C>T ENST00000521891.2 + 10 9778 c.9330C>T c.(9328-9330)ccC>ccT p.P3110P ZFHX4_ENST00000518282.1_Silent_p.P3084P|ZFHX4_ENST00000050961.6_Silent_p.P3065P|ZFHX4_ENST00000455469.2_Silent_p.P3065P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3065 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3094P(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCTTCTCCCCGGAATGAACG 0.527000 HNSCC(33;0.089) 10 97 0 0 0.361761 0 0 SIL1 64374 broad.mit.edu 37 5 138356974 138356974 + Missense_Mutation SNP T T C rs150156151 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:138356974T>C ENST00000394817.2 - 7 792 c.653A>G c.(652-654)aAt>aGt p.N218S SIL1_ENST00000265195.5_Missense_Mutation_p.N218S|CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.N225S NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 218 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTCCTGCGCATTGTCCATCTG 0.502000 Marinesco-Sjgren syndrome 20 35 0 0 0.575678 0 0 FABP3 2170 broad.mit.edu 37 1 31840248 31840248 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:31840248G>A ENST00000373713.2 - 3 401 c.340C>T c.(340-342)Ctc>Ttc p.L114F FABP3_ENST00000497275.1_5'UTR NM_004102.3 NP_004093.1 P05413 FABPH_HUMAN fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 114 negative regulation of cell proliferation large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) ACCAGGATGAGTTTTCCATCA 0.478000 101 265 0 0 0.870114 0 0 DENND4C 55667 broad.mit.edu 37 9 19300201 19300201 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:19300201A>T ENST00000380432.2 + 5 508 c.475A>T c.(475-477)Acc>Tcc p.T159S DENND4C_ENST00000434457.2_Missense_Mutation_p.T395S|DENND4C_ENST00000602925.1_Missense_Mutation_p.T395S|DENND4C_ENST00000307015.9_5'UTR NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 159 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CAACTTTAGCACCTTGCTAAT 0.368000 13 187 0 0 0.457914 0 0 C8orf59 401466 broad.mit.edu 37 8 86127184 86127184 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:86127184T>A ENST00000417663.2 - 3 268 c.197A>T c.(196-198)aAa>aTa p.K66I E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000458398.2_Missense_Mutation_p.K66I|C8orf59_ENST00000518091.1_Missense_Mutation_p.K66I|C8orf59_ENST00000421308.2_Missense_Mutation_p.K66I|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000524353.1_Missense_Mutation_p.K66I NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 66 TGAAATGCTTTTTGCGAAATG 0.294000 9 31 0 0 0.361761 0 0 ZNF417 147687 broad.mit.edu 37 19 58420413 58420413 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:58420413C>T ENST00000312026.5 - 3 1397 c.1233G>A c.(1231-1233)aaG>aaA p.K411K ZNF417_ENST00000595559.1_Silent_p.K410K|ZNF417_ENST00000536263.1_Silent_p.K212K|CTD-2583A14.9_ENST00000602124.1_Intron NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCCCACATTCCTTGCACTCAT 0.453000 6 177 0 0 0.248553 0 0 RNF213 57674 broad.mit.edu 37 17 78338338 78338338 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:78338338C>T ENST00000582970.1 + 42 11999 c.11856C>T c.(11854-11856)gtC>gtT p.V3952V CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2025V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.V4001V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCGAGCACGTCTTCTTACTAG 0.577000 13 63 0 0 0.435327 0 0 RPRD2 23248 broad.mit.edu 37 1 150443141 150443141 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:150443141A>G ENST00000401000.4 + 10 1704 c.1639A>G c.(1639-1641)Ata>Gta p.I547V RPRD2_ENST00000369068.4_Missense_Mutation_p.I573V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.I547V Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 573 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGTCTCTACCATAAAGGGAAG 0.478000 4 65 0 0 0.150653 0 0 TSR1 55720 broad.mit.edu 37 17 2234293 2234293 + Missense_Mutation SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:2234293G>C ENST00000301364.4 - 9 2686 c.1607C>G c.(1606-1608)aCt>aGt p.T536S NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 536 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 GCTTTTCCTAGTGTTAGTAAA 0.393000 14 130 0 0 0.435327 0 0 C7orf10 79783 broad.mit.edu 37 7 40498705 40498705 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:40498705G>T ENST00000309930.5 + 11 939 c.915G>T c.(913-915)ttG>ttT p.L305F C7orf10_ENST00000335693.4_Missense_Mutation_p.L305F|C7orf10_ENST00000401647.2_Missense_Mutation_p.L257F NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 305 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 TTTAGATCTTGGATTTGCCTG 0.348000 35 99 9.17885e-22 1.14104e-21 0.779181 1 0 TRPV5 56302 broad.mit.edu 37 7 142630518 142630518 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:142630518G>T ENST00000265310.1 - 1 387 c.39C>A c.(37-39)agC>agA p.S13R TRPV5_ENST00000442623.1_Missense_Mutation_p.S13R NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 13 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCTGGAGTTGGCTCCCGGGCC 0.517000 10 160 3.86212e-05 4.32494e-05 0.361761 1 0 KCNV2 169522 broad.mit.edu 37 9 2719000 2719000 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:2719000G>A ENST00000382082.3 + 1 1499 c.1261G>A c.(1261-1263)Ggc>Agc p.G421S NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 421 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CATCGCCATGGGCATCTTCAC 0.637000 11 75 0 0 0.361761 0 0 NCOA4 8031 broad.mit.edu 37 10 51584772 51584772 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:51584772C>G ENST00000452682.1 + 9 1171 c.919C>G c.(919-921)Caa>Gaa p.Q307E NCOA4_ENST00000414907.2_Missense_Mutation_p.Q125E|NCOA4_ENST00000438493.1_Missense_Mutation_p.Q307E|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.Q291E|NCOA4_ENST00000443446.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000374087.4_Missense_Mutation_p.Q291E|NCOA4_ENST00000374082.1_Missense_Mutation_p.Q291E|NCOA4_ENST00000430396.2_Missense_Mutation_p.Q191E NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 291 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GGTTGGAGATCAAGAGCTTCC 0.438000 T RET papillary thyroid 4 162 0 0 0.150653 0 0 HGD 3081 broad.mit.edu 37 3 120365175 120365175 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:120365175G>A ENST00000283871.5 - 9 1047 c.588C>T c.(586-588)acC>acT p.T196T NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 196 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TGTAGCCCCTGGTCTCCTCAA 0.463000 94 65 0 0 0.870114 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24470966 24470966 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:24470966C>T ENST00000382137.3 - 1 228 c.160G>A c.(160-162)Gat>Aat p.D54N C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.D54N|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.D54N|C1QTNF9B-AS1_ENST00000417034.1_RNA NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 54 Collagen-like 1. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 GTACCTGCATCGCCTTTGTCA 0.552000 6 132 0 0 0.248553 0 0 OR2M4 26245 broad.mit.edu 37 1 248402903 248402903 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:248402903G>A ENST00000306687.1 + 1 673 c.673G>A c.(673-675)Gtc>Atc p.V225I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V225I(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTTCGAGCCGTCATCCACAT 0.473000 7 70 0 0 0.248553 0 0 XIRP2 129446 broad.mit.edu 37 2 168106123 168106123 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:168106123C>A ENST00000409195.1 + 9 8310 c.8221C>A c.(8221-8223)Caa>Aaa p.Q2741K XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2566 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATTGATGTTCAAACCTTTAC 0.338000 11 130 1.58986e-06 1.83342e-06 0.361761 1 0 ZNF75D 7626 broad.mit.edu 37 X 134427679 134427679 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chrX:134427679C>G ENST00000370766.3 - 3 3097 c.388G>C c.(388-390)Gag>Cag p.E130Q ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E130Q NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 130 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CCATCAGGCTCCCTCTGCAAG 0.453000 56 34 0 0 0.870114 0 0 VPS13B 157680 broad.mit.edu 37 8 100155309 100155309 + Missense_Mutation SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:100155309G>C ENST00000395996.1 + 13 1870 c.1759G>C c.(1759-1761)Gat>Cat p.D587H VPS13B_ENST00000357162.2_Missense_Mutation_p.D587H|VPS13B_ENST00000358544.2_Missense_Mutation_p.D587H|VPS13B_ENST00000355155.1_Missense_Mutation_p.D587H Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 587 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTTTCGTTTGGATAGCAGTGC 0.388000 10 266 0 0 0.361761 0 0 ASH1L 55870 broad.mit.edu 37 1 155450127 155450127 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:155450127C>T ENST00000368346.3 - 3 3173 c.2534G>A c.(2533-2535)aGg>aAg p.R845K ASH1L_ENST00000392403.3_Missense_Mutation_p.R845K Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 845 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTTAAAGTCCTTTTAGGTGG 0.393000 8 269 0 0 0.278610 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651068 84651068 + Silent SNP G G T rs139222116 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:84651068G>T ENST00000286744.5 + 21 2912 c.2688G>T c.(2686-2688)ccG>ccT p.P896P ADAMTSL3_ENST00000567476.1_Silent_p.P896P NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 896 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.P896P(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCAGGGTCCGCAGATCCTCA 0.403000 9 97 1.12685e-05 1.2724e-05 0.307466 1 0 NDUFA12 55967 broad.mit.edu 37 12 95365236 95365236 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:95365236G>A ENST00000327772.2 - 4 507 c.418C>T c.(418-420)Cct>Tct p.P140S NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547157.1_Missense_Mutation_p.T43I|NDUFA12_ENST00000547986.1_3'UTR NM_018838.4 NP_061326.1 Q9UI09 NDUAC_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 140 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity endometrium(1)|large_intestine(2)|lung(3) 6 NADH(DB00157) GGTGTTGAAGGTGGGATCCAC 0.358000 15 148 0 0 0.557998 0 0 CACNA1S 779 broad.mit.edu 37 1 201013550 201013550 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:201013550G>T ENST00000362061.3 - 39 4929 c.4703C>A c.(4702-4704)cCc>cAc p.P1568H CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549H NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1568 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACAGATCTCGGGGGCTGCCTC 0.602000 5 117 8.12818e-05 8.99077e-05 0.248553 1 0 MALAT1 378938 broad.mit.edu 37 11 65271029 65271029 + RNA SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:65271029A>G ENST00000534336.1 + 0 5797 NR_002819.2 TAAAATTTACATGTTGTGATG 0.289000 40 150 0 0 0.834066 0 0 BRF1 2972 broad.mit.edu 37 14 105686450 105686450 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:105686450C>T ENST00000546474.1 - 12 16292 c.1333G>A c.(1333-1335)Ggt>Agt p.G445S BRF1_ENST00000446501.2_Missense_Mutation_p.G207S|BRF1_ENST00000379937.2_Missense_Mutation_p.G418S|BRF1_ENST00000327359.3_Missense_Mutation_p.G330S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.G241S|BRF1_ENST00000440513.3_Missense_Mutation_p.G330S|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 445 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TCCAGCTCACCGTCTCCTGAA 0.627000 8 120 0 0 0.335167 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712774 70712774 + RNA SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:70712774G>C ENST00000530196.1 - 0 1744 NR_003951.1 GTTTCCCTGAGAGTTGATTTC 0.383000 124 328 0 0 0.870114 0 0 ABCC9 10060 broad.mit.edu 37 12 22063175 22063175 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:22063175C>G ENST00000261200.4 - 8 1235 c.1236G>C c.(1234-1236)caG>caC p.Q412H ABCC9_ENST00000345162.2_Missense_Mutation_p.Q412H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q412H NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 412 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTTGTTGATCTGCCCCAGAG 0.378000 7 176 0 0 0.248553 0 0 NCBP1 4686 broad.mit.edu 37 9 100433449 100433449 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:100433449G>A ENST00000375147.3 + 23 2597 c.2341G>A c.(2341-2343)Gtg>Atg p.V781M NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 781 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) TATCTTGGCCGTGTTCCAGCA 0.423000 24 120 0 0 0.667858 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250178 140250178 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:140250178G>A ENST00000398640.2 + 1 1490 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron NM_018902.3 NP_061725.1 p.R497Q(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGCGGCGGTTGGGCGAC 0.672000 16 119 0 0 0.479597 0 0 SASH1 23328 broad.mit.edu 37 6 148865297 148865297 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:148865297C>T ENST00000367467.3 + 18 3166 c.2691C>T c.(2689-2691)agC>agT p.S897S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 897 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TGACCCAAAGCAAGAGATTTT 0.537000 9 271 0 0 0.361761 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298830 125298830 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chrX:125298830G>T ENST00000538699.1 - 2 1158 c.1078C>A c.(1078-1080)Cag>Aag p.Q360K DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360K NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 360 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 ATGATGTGCTGGTAGAAGCTC 0.637000 12 83 3.07112e-06 3.5117e-06 0.387290 1 0 MYO16 23026 broad.mit.edu 37 13 109817248 109817248 + Splice_Site SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:109817248G>C ENST00000356711.2 + 33 5224 c.e33-1 MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Splice_Site NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATTTATTTTAGGTTTTGAAAC 0.284000 25 55 0 0 0.639603 0 0 DNAH3 55567 broad.mit.edu 37 16 21014470 21014470 + Nonsense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:21014470G>A ENST00000261383.3 - 42 6081 c.6082C>T c.(6082-6084)Cag>Tag p.Q2028* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2028 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTGATATACTGTGTCCACGTT 0.388000 64 202 0 0 0.870114 0 0 POU2F1 5451 broad.mit.edu 37 1 167384851 167384851 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:167384851C>T ENST00000367862.5 + 16 2307 c.2072C>T c.(2071-2073)cCt>cTt p.P691L POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.P702L|POU2F1_ENST00000541643.3_Missense_Mutation_p.P679L|POU2F1_ENST00000429375.2_Missense_Mutation_p.P639L|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 679 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 TTCCTGAACCCTCAGAACCTC 0.572000 16 205 0 0 0.539581 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990016 39990016 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr20:39990016C>T ENST00000332312.3 - 4 2385 c.2193G>A c.(2191-2193)ctG>ctA p.L731L NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 731 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) GCGTACGATTCAGCTGGTCCA 0.687000 26 34 0 0 0.654019 0 0 XIRP2 129446 broad.mit.edu 37 2 168100963 168100963 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:168100963T>G ENST00000409195.1 + 9 3150 c.3061T>G c.(3061-3063)Ttt>Gtt p.F1021V XIRP2_ENST00000295237.9_Missense_Mutation_p.F1021V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F799V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 846 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAGGTGGCTTTTTGAAACAAG 0.368000 6 93 0 0 0.217242 0 0 RERE 473 broad.mit.edu 37 1 8616534 8616534 + Splice_Site SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:8616534C>G ENST00000337907.3 - 7 1359 c.725_splice c.e7+1 p.R242_splice RERE_ENST00000400907.2_Splice_Site_p.R242_splice|RERE_ENST00000400908.2_Splice_Site_p.R242_splice NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 242 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CAGTACTTACCTAAGGGCAGC 0.443000 45 320 0 0 0.870114 0 0 EP300 2033 broad.mit.edu 37 22 41545804 41545804 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:41545804A>G ENST00000263253.7 + 14 3638 c.2419A>G c.(2419-2421)Ata>Gta p.I807V NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 807 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GAACTCTCCTATAATGCCTCC 0.458000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 21 50 0 0 0.575678 0 0 EFCAB6 64800 broad.mit.edu 37 22 44064784 44064784 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:44064784T>A ENST00000262726.7 - 16 2035 c.1782A>T c.(1780-1782)aaA>aaT p.K594N EFCAB6_ENST00000396231.2_Missense_Mutation_p.K442N NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCTGTTCATCTTTTTGTAAAT 0.383000 5 143 0 0 0.184627 0 0 ZNF259 8882 broad.mit.edu 37 11 116653688 116653688 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:116653688G>A ENST00000227322.3 - 11 1098 c.1039C>T c.(1039-1041)Ctc>Ttc p.L347F NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 347 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) TTGCCCCCGAGGACTGCCATT 0.478000 118 43 0 0 0.870114 0 0 TNPO1 3842 broad.mit.edu 37 5 72187641 72187641 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:72187641A>G ENST00000337273.5 + 15 2132 c.1706A>G c.(1705-1707)tAt>tGt p.Y569C TNPO1_ENST00000506351.2_Missense_Mutation_p.Y561C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y519C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y519C NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 569 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) AAATAGGAATATATTCAGATG 0.328000 48 114 0 0 0.870114 0 0 OR8H1 219469 broad.mit.edu 37 11 56058044 56058044 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:56058044C>A ENST00000313022.2 - 1 522 c.495G>T c.(493-495)ctG>ctT p.L165L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L165L(3) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) CGCAGAAATGCAGTCTGCTCA 0.433000 4 141 0.150653 0.153485 0.150653 1 0 DFNB31 25861 broad.mit.edu 37 9 117187304 117187304 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:117187304C>A ENST00000374059.3 - 1 1047 c.114G>T c.(112-114)agG>agT p.R38S DFNB31_ENST00000362057.3_Splice_Site_p.G389_splice|DFNB31_ENST00000265134.6_Splice_Site_p.G6_splice Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 389 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGCCAAGAAACCTGTGGGGAA 0.517000 8 206 0.000157383 0.000172676 0.278610 1 0 PSD3 23362 broad.mit.edu 37 8 18430163 18430163 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:18430163C>T ENST00000440756.2 - 14 2767 c.2665G>A c.(2665-2667)Ggg>Agg p.G889R PSD3_ENST00000428502.2_Missense_Mutation_p.G216R|PSD3_ENST00000523619.1_Missense_Mutation_p.G822R|PSD3_ENST00000286485.8_Missense_Mutation_p.G353R|PSD3_ENST00000327040.8_Missense_Mutation_p.G887R Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 888 PH. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTTATCCACCCTTGCATTTCC 0.428000 18 279 0 0 0.608945 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971209 21971209 + Splice_Site SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:21971209T>A ENST00000579755.1 - 2 486 c.e2-2 CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CATCATGACCTGCCAGAGAGA 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 4 0 0 0.307466 0 0 ZNF493 284443 broad.mit.edu 37 19 21607117 21607117 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:21607117A>T ENST00000392288.2 + 4 1765 c.1656A>T c.(1654-1656)aaA>aaT p.K552N ZNF493_ENST00000355504.4_Missense_Mutation_p.K424N|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AATGTGGCAAAGCTTTTAATC 0.363000 15 62 0 0 0.479597 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14787090 14787090 + Nonsense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr18:14787090G>A ENST00000358984.4 + 15 1905 c.1725G>A c.(1723-1725)tgG>tgA p.W575* ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.W575* NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 575 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAAATTCTTGGGATTCTGAGG 0.318000 3 47 0 0 0.150653 0 0 TMEM63C 57156 broad.mit.edu 37 14 77703058 77703058 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:77703058C>T ENST00000298351.4 + 9 778 c.634C>T c.(634-636)Ccc>Tcc p.P212S NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 212 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GGGGTTTGCACCCAGGAATAG 0.547000 6 145 0 0 0.248553 0 0 MAATS1 89876 broad.mit.edu 37 3 119458167 119458167 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:119458167G>A ENST00000273390.5 + 12 1604 c.1527G>A c.(1525-1527)caG>caA p.Q509Q NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GAGTCGTTCAGAACATGGTGT 0.428000 26 215 0 0 0.667858 0 0 RIF1 55183 broad.mit.edu 37 2 152324992 152324992 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:152324992A>G ENST00000243326.4 + 31 7235 c.6752A>G c.(6751-6753)aAt>aGt p.N2251S RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.N2251S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 2251 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATCTAGCATAATACCACTTCA 0.348000 60 205 0 0 0.870114 0 0 NASP 4678 broad.mit.edu 37 1 46073529 46073529 + Nonsense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:46073529G>T ENST00000350030.3 + 6 1033 c.946G>T c.(946-948)Gag>Tag p.E316* NASP_ENST00000402363.3_Nonsense_Mutation_p.E318*|NASP_ENST00000537798.1_Nonsense_Mutation_p.E252*|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 316 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) CGAGCCAGAGGAGAAGGTAGT 0.527000 5 57 0.00116845 0.00125158 0.217242 1 0 OR5P3 120066 broad.mit.edu 37 11 7847182 7847182 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:7847182A>T ENST00000328375.1 - 1 337 c.338T>A c.(337-339)tTc>tAc p.F113Y RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCCAGCAGGAAGCACTCGGC 0.552000 10 184 0 0 0.361761 0 0 SYNRG 11276 broad.mit.edu 37 17 35913812 35913812 + Silent SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:35913812T>A ENST00000339208.6 - 14 2153 c.2013A>T c.(2011-2013)ggA>ggT p.G671G SYNRG_ENST00000502449.2_Silent_p.G593G|SYNRG_ENST00000394378.2_Silent_p.G593G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Silent_p.G593G|SYNRG_ENST00000591288.1_Silent_p.G510G|SYNRG_ENST00000585472.1_Silent_p.G592G|SYNRG_ENST00000346661.4_Silent_p.G671G NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 671 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGCTGAATTCTCCAAAATCAT 0.418000 66 36 0 0 0.870114 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412299 139412299 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:139412299C>T ENST00000277541.6 - 8 1421 c.1346G>A c.(1345-1347)tGc>tAc p.C449Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 449 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCGATCTCGCATCGGGGGCC 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 80 29 0 0 0.870114 0 0 SYNE1 23345 broad.mit.edu 37 6 152523002 152523002 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:152523002G>A ENST00000367255.5 - 127 23703 c.23102C>T c.(23101-23103)cCg>cTg p.P7701L SYNE1_ENST00000448038.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2225L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7313L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7630L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7701L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7701 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGGTGATCCGGGAGAGACTG 0.433000 HNSCC(10;0.0054) 12 99 0 0 0.387290 0 0 TMEM53 79639 broad.mit.edu 37 1 45120269 45120269 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:45120269G>T ENST00000372237.3 - 3 959 c.796C>A c.(796-798)Ctc>Atc p.L266I TMEM53_ENST00000372235.3_Missense_Mutation_p.L236I|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 266 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) TCGACACAGAGGCTTGTGTAG 0.587000 14 87 4.7546e-09 5.70132e-09 0.500413 1 0 LNX1 84708 broad.mit.edu 37 4 54424120 54424120 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:54424120G>A ENST00000306888.2 - 1 264 c.13C>T c.(13-15)Ctg>Ttg p.L5L LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 101 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCAGCAACAGAAGCGCCTTC 0.537000 17 43 0 0 0.539581 0 0 EXO1 9156 broad.mit.edu 37 1 242030178 242030178 + Missense_Mutation SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:242030178A>C ENST00000366548.3 + 11 1681 c.1088A>C c.(1087-1089)aAg>aCg p.K363T EXO1_ENST00000518483.1_Missense_Mutation_p.K363T|EXO1_ENST00000348581.5_Missense_Mutation_p.K363T NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 363 Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACATGTCAAAAGTCAGCTAAT 0.378000 Editing and processing nucleases 9 168 0 0 0.387290 0 0 VEZT 55591 broad.mit.edu 37 12 95645720 95645720 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:95645720C>T ENST00000436874.1 + 2 146 c.41C>T c.(40-42)tCt>tTt p.S14F VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_Intron NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 14 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTTCAGAATTCTCCACTTTAC 0.363000 9 97 0 0 0.335167 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298829 125298829 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chrX:125298829T>A ENST00000538699.1 - 2 1159 c.1079A>T c.(1078-1080)cAg>cTg p.Q360L DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q360L NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 360 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GATGATGTGCTGGTAGAAGCT 0.637000 12 85 0 0 0.387290 0 0 RYR1 6261 broad.mit.edu 37 19 38960132 38960132 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:38960132C>T ENST00000355481.4 + 27 3875 c.3744C>T c.(3742-3744)ccC>ccT p.P1248P RYR1_ENST00000360985.3_Silent_p.P1248P|RYR1_ENST00000359596.3_Silent_p.P1248P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1248 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCCAGTGCCCCTTGAACACC 0.552000 5 150 0 0 0.184627 0 0 USP48 84196 broad.mit.edu 37 1 22016569 22016569 + Silent SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:22016569A>G ENST00000308271.9 - 24 3555 c.2907T>C c.(2905-2907)gcT>gcC p.A969A USP48_ENST00000400301.1_Silent_p.A917A|USP48_ENST00000529637.1_Silent_p.A981A|USP48_ENST00000374732.3_Silent_p.A455A NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 969 Ubiquitin-like. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GGTCAAAAGGAGCAACTGAAA 0.358000 26 65 0 0 0.654019 0 0 TMEM53 79639 broad.mit.edu 37 1 45120270 45120270 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:45120270G>T ENST00000372237.3 - 3 958 c.795C>A c.(793-795)agC>agA p.S265R TMEM53_ENST00000372235.3_Missense_Mutation_p.S235R|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 265 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) CGACACAGAGGCTTGTGTAGT 0.582000 14 88 6.31663e-08 7.41041e-08 0.479597 1 0 LARS2 23395 broad.mit.edu 37 3 45500356 45500356 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:45500356T>G ENST00000415258.1 + 7 869 c.728T>G c.(727-729)aTt>aGt p.I243S LARS2_ENST00000414984.1_Missense_Mutation_p.I200S|LARS2_ENST00000265537.3_Missense_Mutation_p.I243S Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 243 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) CAATGGTTTATTAAGACAACC 0.498000 24 45 0 0 0.706142 0 0 KMT2D 8085 broad.mit.edu 37 12 49425941 49425941 + Nonsense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:49425941G>A ENST00000301067.7 - 39 12546 c.12547C>T c.(12547-12549)Cag>Tag p.Q4183* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.G3912fs(2)|p.G4182fs(2) GGCAGACCCTGCCCAGACTGG 0.592000 6 127 0 0 0.248553 0 0 GCC1 79571 broad.mit.edu 37 7 127222454 127222454 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:127222454C>T ENST00000321407.2 - 2 2366 c.1942G>A c.(1942-1944)Gcc>Acc p.A648T NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 648 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCTCATTGGCCGCTGCAAGT 0.582000 4 131 0 0 0.217242 0 0 ASIC5 51802 broad.mit.edu 37 4 156751052 156751052 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:156751052G>T ENST00000537611.2 - 10 1520 c.1474C>A c.(1474-1476)Cct>Act p.P492T NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 492 integral to membrane|plasma membrane TGATTCTGAGGTGGAGGAGTC 0.338000 5 62 0.00116845 0.00125158 0.217242 1 0 NAA20 51126 broad.mit.edu 37 20 20013236 20013236 + Silent SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr20:20013236A>T ENST00000398602.2 + 5 989 c.354A>T c.(352-354)gtA>gtT p.V118V NAA20_ENST00000334982.4_Silent_p.V130V|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR NM_181527.3 NP_852668.1 P61599 NAA20_HUMAN N(alpha)-acetyltransferase 20, NatB catalytic subunit 130 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity endometrium(3)|lung(2)|prostate(1) 6 GCTACAGTGTATATAGGACGG 0.438000 12 62 0 0 0.387290 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43824171 43824171 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:43824171C>T ENST00000389420.3 - 23 3364 c.3365G>A c.(3364-3366)cGc>cAc p.R1122H ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R276H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1122H NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1122 TSP type-1 6. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTCACTGGGGCGACTAGCTTC 0.368000 5 37 0 0 0.184627 0 0 FAM120C 54954 broad.mit.edu 37 X 54209176 54209176 + Silent SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chrX:54209176C>G ENST00000375180.2 - 1 512 c.456G>C c.(454-456)gcG>gcC p.A152A FAM120C_ENST00000477084.1_Silent_p.A152A|FAM120C_ENST00000328235.4_Silent_p.A152A|FAM120C_ENST00000497680.1_5'UTR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 152 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCTGGCACAGCGCTGACAAGT 0.697000 3 15 0 0 0.115264 0 0 CTNNA2 1496 broad.mit.edu 37 2 80782853 80782853 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:80782853A>G ENST00000466387.1 + 16 2300 c.1576A>G c.(1576-1578)Ata>Gta p.I526V CTNNA2_ENST00000541047.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I526V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I560V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I526V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I205V P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 526 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAAGTGTGTGATAGCCCTCCA 0.468000 3 143 0 0 0.115264 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566447 56566447 + Silent SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:56566447T>C ENST00000394023.3 - 19 1890 c.1785A>G c.(1783-1785)aaA>aaG p.K595K RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.K595K|SMARCC2_ENST00000550164.1_Silent_p.K595K|SMARCC2_ENST00000267064.4_Silent_p.K564K NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 564 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCTCTTTGCCTTTGTCAGGAA 0.502000 61 148 0 0 0.870114 0 0 URB2 9816 broad.mit.edu 37 1 229772124 229772124 + Silent SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:229772124G>C ENST00000258243.2 + 4 1900 c.1764G>C c.(1762-1764)ccG>ccC p.P588P NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 588 nucleolus p.P588P(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CCCTTCTCCCGGACACCCCAG 0.612000 5 243 0 0 0.248553 0 0 LRIF1 55791 broad.mit.edu 37 1 111494644 111494644 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:111494644G>T ENST00000369763.4 - 2 1252 c.862C>A c.(862-864)Cca>Aca p.P288T RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 CATTTCACTGGAGCAGCTTGA 0.358000 72 114 3.19358e-47 4.0442e-47 0.870114 1 0 FAR2P1 440905 broad.mit.edu 37 2 130792744 130792744 + RNA SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:130792744G>T ENST00000325390.3 - 0 2584 NR_026758.1 TACAGCTAGTGGGAGATTGAC 0.488000 8 68 5.68852e-11 6.9441e-11 0.307466 1 0 CYB561A3 220002 broad.mit.edu 37 11 61120500 61120500 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:61120500C>T ENST00000426130.2 - 6 1335 c.556G>A c.(556-558)Gca>Aca p.A186T CYB561A3_ENST00000294072.4_Missense_Mutation_p.A169T|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169T|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169T NM_001161454.1 NP_001154926.1 cytochrome b561 family, member A3 p.A169T(1) ATGACGGATGCGATGGACAGA 0.522000 16 50 0 0 0.592651 0 0 GPR123 84435 broad.mit.edu 37 10 134942077 134942077 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:134942077G>A ENST00000607359.1 + 16 2902 c.2902G>A c.(2902-2904)Gag>Aag p.E968K GPR123_ENST00000392606.2_Missense_Mutation_p.E152K|GPR123_ENST00000392607.3_Missense_Mutation_p.E249K Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 249 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCTGCAGAACGAGCACTCATT 0.726000 5 3 0 0 0.217242 0 0 CYLC2 1539 broad.mit.edu 37 9 105767514 105767514 + Missense_Mutation SNP G G C rs146533245 byFrequency TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:105767514G>C ENST00000374798.3 + 5 671 c.601G>C c.(601-603)Gac>Cac p.D201H CYLC2_ENST00000487798.1_Missense_Mutation_p.D201H NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 201 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CAAAGGCAAAGACTCGGCAAC 0.378000 5 39 0 0 0.184627 0 0 WDR89 112840 broad.mit.edu 37 14 64066011 64066011 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:64066011G>A ENST00000394942.2 - 2 738 c.650C>T c.(649-651)tCa>tTa p.S217L WDR89_ENST00000267522.3_Missense_Mutation_p.S217L NM_001008726.2|NM_001258272.1|NM_080666.3 NP_001008726.1|NP_001245201.1|NP_542397.1 Q96FK6 WDR89_HUMAN WD repeat domain 89 217 endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101) GCTTACTGATGAAATTGAGTT 0.373000 53 274 0 0 0.870114 0 0 FARP1 10160 broad.mit.edu 37 13 99042216 99042216 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:99042216G>A ENST00000376586.2 + 10 1197 c.861G>A c.(859-861)gcG>gcA p.A287A FARP1_ENST00000319562.6_Silent_p.A287A|FARP1_ENST00000595437.1_Silent_p.A287A Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 287 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTTAGAGTGCGTACCAGGATA 0.418000 29 272 0 0 0.750413 0 0 GAS6 2621 broad.mit.edu 37 13 114535695 114535695 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:114535695C>T ENST00000357389.3 - 9 1146 c.994G>A c.(994-996)Gcc>Acc p.A332T GAS6_ENST00000450766.1_Missense_Mutation_p.A16T|GAS6_ENST00000327773.6_Missense_Mutation_p.A289T|GAS6_ENST00000355761.4_Missense_Mutation_p.A235T|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000418959.3_5'UTR|GAS6-AS1_ENST00000458001.1_RNA Q14393 GAS6_HUMAN growth arrest-specific 6 332 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) ACACTCTTGGCCACGCTGAAG 0.667000 8 160 0 0 0.335167 0 0 SEPP1 6414 broad.mit.edu 37 5 42801329 42801329 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:42801329A>T ENST00000514985.1 - 5 895 c.639T>A c.(637-639)caT>caA p.H213Q SEPP1_ENST00000507920.1_Missense_Mutation_p.M103K|SEPP1_ENST00000511224.1_Missense_Mutation_p.H213Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H213Q NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 213 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 GCTGATGTCCATGATTGTGAT 0.463000 12 306 0 0 0.411799 0 0 TNRC6B 23112 broad.mit.edu 37 22 40660900 40660900 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:40660900G>A ENST00000454349.2 + 5 877 c.666G>A c.(664-666)tcG>tcA p.S222S TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.S222S|TNRC6B_ENST00000402203.1_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 222 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ACAGTGCCTCGAACCCTGGCT 0.498000 55 105 0 0 0.870114 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136324143 136324143 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:136324143G>A ENST00000371929.3 + 29 4569 c.4125G>A c.(4123-4125)caG>caA p.Q1375Q ADAMTS13_ENST00000356589.2_Silent_p.Q1288Q|ADAMTS13_ENST00000355699.2_Silent_p.Q1319Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Silent_p.Q171Q NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1375 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ATGGGCAGCAGGTGCTCTACT 0.602000 4 70 0 0 0.184627 0 0 SLC29A3 55315 broad.mit.edu 37 10 73082800 73082800 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:73082800T>G ENST00000373189.5 + 2 341 c.289T>G c.(289-291)Tca>Gca p.S97A NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 97 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CCCTGAGGGCTCAGACATCCT 0.547000 3 111 0 0 0.150653 0 0 COL5A2 1290 broad.mit.edu 37 2 189917666 189917666 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:189917666G>T ENST00000374866.3 - 39 2906 c.2632C>A c.(2632-2634)Caa>Aaa p.Q878K NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 878 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCTAAACCTTGTGGTCCAGGA 0.463000 6 115 0.0215528 0.0222084 0.217242 1 0 SRRM2 23524 broad.mit.edu 37 16 2816271 2816271 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:2816271A>T ENST00000301740.8 + 11 6291 c.5742A>T c.(5740-5742)agA>agT p.R1914S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1914 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCCGGTCAAGAGCATCCCCAG 0.587000 4 122 0 0 0.150653 0 0 SI 6476 broad.mit.edu 37 3 164772993 164772993 + Nonsense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:164772993C>A ENST00000264382.3 - 13 1563 c.1501G>T c.(1501-1503)Gga>Tga p.G501* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 501 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATCCAAAGTCCATCATATTGC 0.328000 HNSCC(35;0.089) 8 203 0.27861 0.280682 0.278610 1 0 PLOD2 5352 broad.mit.edu 37 3 145789100 145789100 + Silent SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:145789100T>A ENST00000282903.5 - 18 2136 c.1959A>T c.(1957-1959)ccA>ccT p.P653P PLOD2_ENST00000461497.1_Silent_p.P313P|PLOD2_ENST00000360060.3_Silent_p.P632P|PLOD2_ENST00000494950.1_Silent_p.P598P|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 632 Fe2OG dioxygenase. protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCAGTGTAACTGGTGCAATGA 0.403000 4 156 0 0 0.150653 0 0 NR4A3 8013 broad.mit.edu 37 9 102606941 102606941 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:102606941C>G ENST00000330847.1 + 5 1342 c.1298C>G c.(1297-1299)aCt>aGt p.T433S NR4A3_ENST00000395097.2_Missense_Mutation_p.T422S Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 422 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TACTGTCCCACTGACCAGGCT 0.498000 T EWSR1 extraskeletal myxoid chondrosarcoma 18 77 0 0 0.520397 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790731 194790731 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:194790731C>A ENST00000310380.6 - 4 1003 c.895G>T c.(895-897)Gcc>Tcc p.A299S XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.A93S|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A153S|XXYLT1_ENST00000355729.4_Missense_Mutation_p.A96S|XXYLT1_ENST00000437101.1_Missense_Mutation_p.A96S NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 299 integral to membrane transferase activity, transferring glycosyl groups TGGCGCATGGCCTCCAGGTTC 0.706000 10 119 2.17888e-05 2.45011e-05 0.335167 1 0 LITAF 9516 broad.mit.edu 37 16 11650451 11650451 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:11650451C>T ENST00000571688.1 - 2 366 c.136G>A c.(136-138)Ggg>Agg p.G46R LITAF_ENST00000576036.1_Missense_Mutation_p.G46R|LITAF_ENST00000574763.1_Missense_Mutation_p.G46R|LITAF_ENST00000381810.3_Missense_Mutation_p.G46R|LITAF_ENST00000574703.1_Missense_Mutation_p.G46R|LITAF_ENST00000339430.5_Missense_Mutation_p.G46R|LITAF_ENST00000571976.1_Missense_Mutation_p.G46R|LITAF_ENST00000571459.1_Missense_Mutation_p.G46R|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Missense_Mutation_p.G46R|LITAF_ENST00000570904.1_Missense_Mutation_p.G46R NM_001136472.1 NP_001129944.1 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF factor 46 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1) 7 GTCACAAGCCCCGTAGTTGGC 0.567000 4 106 0 0 0.150653 0 0 ZEB2 9839 broad.mit.edu 37 2 145157513 145157513 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:145157513G>T ENST00000558170.2 - 8 2425 c.1241C>A c.(1240-1242)cCc>cAc p.P414H ZEB2_ENST00000409487.3_Missense_Mutation_p.P414H|ZEB2_ENST00000303660.4_Missense_Mutation_p.P414H|ZEB2_ENST00000539609.3_Missense_Mutation_p.P390H NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 414 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTCATAAAGGGACTAGTGCC 0.448000 6 140 0.00198382 0.00209189 0.248553 1 0 COPG2 26958 broad.mit.edu 37 7 130295823 130295823 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:130295823C>A ENST00000445977.2 - 9 827 c.738G>T c.(736-738)ggG>ggT p.G246G Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 246 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity large_intestine(1) 1 Melanoma(18;0.0435) AAGACACTTACCCATCCTCAG 0.368000 6 123 1.76689e-08 2.09095e-08 0.335167 1 0 PAN3 255967 broad.mit.edu 37 13 28854571 28854571 + Silent SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:28854571A>C ENST00000399613.1 + 15 1675 c.1612A>C c.(1612-1614)Agg>Cgg p.R538R PAN3_ENST00000380958.3_Silent_p.R738R|PAN3_ENST00000282391.5_Silent_p.R426R Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 738 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TGACCAAAACAGGATGCGAAG 0.373000 94 85 0 0 0.870114 0 0 PRMT3 10196 broad.mit.edu 37 11 20419170 20419170 + Missense_Mutation SNP C C T rs142076035 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:20419170C>T ENST00000331079.6 + 7 825 c.608C>T c.(607-609)tCg>tTg p.S203L PRMT3_ENST00000437750.2_Missense_Mutation_p.S141L NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 203 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AGAACCTGCTCGTCATCTACT 0.413000 87 114 0 0 0.870114 0 0 ARID5A 10865 broad.mit.edu 37 2 97218002 97218002 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:97218002C>A ENST00000454558.2 + 7 2710 c.1533C>A c.(1531-1533)gtC>gtA p.V511V ARID5A_ENST00000357485.3_Silent_p.V579V Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 579 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CACCACCAGTCACAACCTATG 0.617000 36 134 1.69901e-12 2.09287e-12 0.812448 1 0 HTR7 3363 broad.mit.edu 37 10 92509030 92509030 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:92509030G>A ENST00000371721.3 - 2 1103 c.861C>T c.(859-861)atC>atT p.I287I HTR7_ENST00000336152.3_Silent_p.I287I|HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000277874.6_Silent_p.I287I P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 287 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CATTCAGGGCGATGACGCTGT 0.488000 5 61 0 0 0.184627 0 0 CCND1 595 broad.mit.edu 37 11 69462871 69462871 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:69462871C>T ENST00000227507.2 + 4 911 c.684C>T c.(682-684)cgC>cgT p.R228R CCND1_ENST00000536559.1_3'UTR NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 228 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) CCTACTACCGCCTCACACGCT 0.612000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 13 522 0 0 0.435327 0 0 TP53 7157 broad.mit.edu 37 17 7577017 7577017 + Splice_Site SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:7577017A>C ENST00000420246.2 - 8 1052 c.e8+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGCTTGCTTACCTCGCTTAG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 119 66 0 0 0.870114 0 0 EGFL7 51162 broad.mit.edu 37 9 139563027 139563027 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:139563027C>T ENST00000371699.1 + 4 1010 c.99C>T c.(97-99)gtC>gtT p.V33V EGFL7_ENST00000308874.7_Silent_p.V33V|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.V33V|EGFL7_ENST00000406555.3_Silent_p.V33V Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 33 EMI. angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) TGTGTGCTGTCCGGGCTCACG 0.677000 13 170 0 0 0.435327 0 0 RBM19 9904 broad.mit.edu 37 12 114404022 114404022 + Missense_Mutation SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:114404022A>C ENST00000545145.2 - 1 89 c.11T>G c.(10-12)cTg>cGg p.L4R RBM19_ENST00000392561.3_Missense_Mutation_p.L4R|RBM19_ENST00000261741.5_Missense_Mutation_p.L4R NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 4 RRM 1. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CTTCACGATCAGTCGCGACAT 0.582000 OREG0022146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 93 0 0 0.217242 0 0 GLDN 342035 broad.mit.edu 37 15 51696666 51696666 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:51696666C>T ENST00000335449.6 + 10 1427 c.1371C>T c.(1369-1371)ttC>ttT p.F457F GLDN_ENST00000396399.2_Silent_p.F333F NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 457 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) AGAGGACATTCTCAGTGGTGC 0.473000 13 158 0 0 0.411799 0 0 YIPF7 285525 broad.mit.edu 37 4 44631497 44631497 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:44631497C>T ENST00000332990.5 - 4 437 c.421G>A c.(421-423)Gat>Aat p.D141N NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 141 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 ATGCTGCCATCTACTGGCTTC 0.403000 3 9 0 0 0.115264 0 0 OR13F1 138805 broad.mit.edu 37 9 107267227 107267227 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:107267227C>A ENST00000334726.2 + 1 773 c.684C>A c.(682-684)atC>atA p.I228I NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCCTGAGAATCAGCTCAGTGG 0.473000 147 168 1.35182e-49 1.71992e-49 0.870114 1 0 ADRA1A 148 broad.mit.edu 37 8 26627907 26627907 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:26627907C>T ENST00000380573.3 - 3 2183 c.1160G>A c.(1159-1161)aGg>aAg p.R387K ADRA1A_ENST00000380582.3_Missense_Mutation_p.R387K|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R387K|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R387K|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R387K P35348 ADA1A_HUMAN adrenoceptor alpha 1A 387 R -> G (in Ref. 9; AAK77197). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGGAGATCCTGTAGAAGGT 0.562000 14 274 0 0 0.520397 0 0 PSG3 5671 broad.mit.edu 37 19 43237075 43237075 + Silent SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:43237075A>T ENST00000327495.5 - 3 754 c.570T>A c.(568-570)acT>acA p.T190T PSG3_ENST00000595140.1_Silent_p.T190T NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 190 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCAAGCTGTGAGTCATAGGGA 0.502000 128 302 0 0 0.870114 0 0 CNPY4 245812 broad.mit.edu 37 7 99720114 99720114 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:99720114C>A ENST00000262932.3 + 3 388 c.256C>A c.(256-258)Ctg>Atg p.L86M RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 86 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGAGACAAGGCTGGAAGAGGC 0.537000 6 262 0.0215528 0.0222084 0.217242 1 0 CPT1C 126129 broad.mit.edu 37 19 50210775 50210775 + Splice_Site SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:50210775C>T ENST00000392518.4 + 13 1716 c.1343_splice c.e13-1 p.R448_splice CPT1C_ENST00000323446.5_Splice_Site_p.R448_splice|CPT1C_ENST00000354199.5_Splice_Site_p.R448_splice|CPT1C_ENST00000598293.1_Splice_Site_p.R448_splice|CPT1C_ENST00000405931.2_Splice_Site_p.R437_splice NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 448 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TCCCTGACAGCTGGTTTGACA 0.562000 4 56 0 0 0.184627 0 0 ABCG8 64241 broad.mit.edu 37 2 44073294 44073294 + Splice_Site SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:44073294G>C ENST00000272286.2 + 3 256 c.165_splice c.e3-1 p.V56_splice NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 56 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCCCCACAGGTGGACCTGGC 0.552000 3 111 0 0 0.115264 0 0 BST1 683 broad.mit.edu 37 4 15709251 15709251 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:15709251C>G ENST00000382346.3 + 4 527 c.478C>G c.(478-480)Cga>Gga p.R160G BST1_ENST00000265016.4_Missense_Mutation_p.R145G Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 145 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 GAGCTGGTGTCGACAGAAAAA 0.438000 54 115 0 0 0.870114 0 0 RBM19 9904 broad.mit.edu 37 12 114358415 114358415 + Splice_Site SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:114358415C>A ENST00000545145.2 - 19 2464 c.e19+1 RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) cTTCACTTTACCTGGAGCTGC 0.517000 23 422 0.00047179 0.000513474 0.654019 1 0 ARAP3 64411 broad.mit.edu 37 5 141041799 141041799 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:141041799G>A ENST00000239440.4 - 20 2889 c.2824C>T c.(2824-2826)Cgg>Tgg p.R942W ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Missense_Mutation_p.R604W NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 942 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCCCTTTCCGGTATACACCT 0.657000 38 88 0 0 0.827153 0 0 SNHG14 104472715 broad.mit.edu 37 15 25490683 25490683 + RNA SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:25490683C>G ENST00000453082.2 + 0 2719 SNORD115-41_ENST00000363608.1_RNA NR_003343.1 AAAAATCATGCTCAATAGGAT 0.498000 71 368 0 0 0.870114 0 0 RNF14 9604 broad.mit.edu 37 5 141358230 141358230 + Silent SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:141358230T>C ENST00000394520.2 + 5 978 c.669T>C c.(667-669)tgT>tgC p.C223C AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.C97C|RNF14_ENST00000356143.1_Silent_p.C223C|RNF14_ENST00000347642.3_Silent_p.C223C|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Silent_p.C223C|RNF14_ENST00000540015.1_Intron NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 223 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GCAGTATCTGTTTCTGTGAGA 0.413000 50 93 0 0 0.870114 0 0 HAPLN2 60484 broad.mit.edu 37 1 156594410 156594410 + Missense_Mutation SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:156594410G>C ENST00000255039.1 + 6 981 c.574G>C c.(574-576)Gac>Cac p.D192H HAPLN2_ENST00000494218.1_3'UTR NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 192 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGAGGGTCTGGACTGGTGTAA 0.726000 4 34 0 0 0.248553 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327784 88327784 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:88327784C>A ENST00000325089.6 + 2 360 c.141C>A c.(139-141)atC>atA p.I47I SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 47 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATGGGGAAATCTGTGACAATG 0.458000 98 124 2.5264e-35 3.18444e-35 0.870114 1 0 FLT3 2322 broad.mit.edu 37 13 28599056 28599056 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:28599056C>T ENST00000380982.4 - 18 2313 c.2232G>A c.(2230-2232)caG>caA p.Q744Q FLT3_ENST00000241453.7_Silent_p.Q744Q|FLT3_ENST00000537084.1_Silent_p.Q744Q P36888 FLT3_HUMAN fms-related tyrosine kinase 3 744 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CCGGGTGTATCTGAACTTCTC 0.308000 """Mis, O""" """AML, ALL""" 143 112 0 0 0.870114 0 0 GK2 2712 broad.mit.edu 37 4 80328069 80328069 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:80328069G>T ENST00000358842.3 - 1 1303 c.1286C>A c.(1285-1287)aCc>aAc p.T429N NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 429 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TTTGTTGTTGGTCATTCCTCC 0.428000 45 103 1.76056e-25 2.19867e-25 0.859065 1 0 SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:170198095G>A ENST00000231706.4 - 7 2291 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 659 integral to membrane amino acid transmembrane transporter activity p.A659V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498000 5 276 0 0 0.217242 0 0 LRCH1 23143 broad.mit.edu 37 13 47315978 47315978 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:47315978G>A ENST00000389798.3 + 19 2379 c.2182G>A c.(2182-2184)Gca>Aca p.A728T LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron NM_015116.2 NP_055931.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 728 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TGCTCTGTCCGCATAATGTCT 0.502000 7 438 0 0 0.248553 0 0 CEP170 9859 broad.mit.edu 37 1 243354341 243354341 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:243354341C>A ENST00000366542.1 - 8 1138 c.1087G>T c.(1087-1089)Gtg>Ttg p.V363L CEP170_ENST00000366543.1_Missense_Mutation_p.V363L|CEP170_ENST00000366544.1_Missense_Mutation_p.V363L NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 363 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTCAAGTACACTGGAACATCA 0.363000 3 23 0.00909568 0.00944417 0.150653 1 0 TERF2 7014 broad.mit.edu 37 16 69419369 69419369 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:69419369C>T ENST00000254942.3 - 2 416 c.400G>A c.(400-402)Ggg>Agg p.G134R TERF2_ENST00000603068.1_Missense_Mutation_p.G92R|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.G134R NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 92 TRFH dimerization. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) TGCTCCTTCCCCAAGGGCCTG 0.587000 8 216 0 0 0.307466 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38340838 38340838 + Silent SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:38340838A>G ENST00000436615.3 + 4 613 c.123A>G c.(121-123)ctA>ctG p.L41L RAPGEFL1_ENST00000544503.1_Silent_p.L90L|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Silent_p.L41L|RAPGEFL1_ENST00000456989.2_Silent_p.L96L NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 247 Gly-rich. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TCCAGGATCTATACCTGCTAA 0.552000 3 15 0 0 0.115264 0 0 GCM2 9247 broad.mit.edu 37 6 10874289 10874289 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:10874289G>A ENST00000379491.4 - 5 1607 c.1460C>T c.(1459-1461)tCc>tTc p.S487F RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 487 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) ACTGACTGCGGAGCCCAGCCC 0.522000 10 128 0 0 0.411799 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259261 147259261 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:147259261A>T ENST00000361727.3 + 12 2325 c.1809A>T c.(1807-1809)aaA>aaT p.K603N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 603 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAGCCTACAAACACCTAGGAC 0.448000 HNSCC(39;0.1) 18 113 0 0 0.520397 0 0 CABIN1 23523 broad.mit.edu 37 22 24447311 24447311 + Silent SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:24447311G>T ENST00000398319.2 + 8 1066 c.681G>T c.(679-681)tcG>tcT p.S227S CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Silent_p.S227S NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 227 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACGATGTTTCGGTGAGTGCAG 0.463000 3 106 0.115264 0.117874 0.115264 1 0 OR6F1 343169 broad.mit.edu 37 1 247875881 247875881 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:247875881C>A ENST00000302084.2 - 1 224 c.177G>T c.(175-177)atG>atT p.M59I RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAAAGAAGTACATGGGGGTAT 0.478000 8 128 1.12685e-05 1.2724e-05 0.307466 1 0 CHD7 55636 broad.mit.edu 37 8 61778180 61778180 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:61778180C>T ENST00000423902.2 + 38 9161 c.8682C>T c.(8680-8682)ctC>ctT p.L2894L CHD7_ENST00000524602.1_Silent_p.L845L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2894 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCCTTTCCTCCTGTCCACAA 0.587000 26 113 0 0 0.706142 0 0 DNAH10 196385 broad.mit.edu 37 12 124297944 124297944 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:124297944G>A ENST00000409039.3 + 19 3049 c.3024G>A c.(3022-3024)atG>atA p.M1008I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1008 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTATTGTGATGGAGAAATTTG 0.403000 10 197 0 0 0.361761 0 0 PKD1L1 168507 broad.mit.edu 37 7 47933651 47933651 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:47933651C>A ENST00000289672.2 - 15 2327 c.2277G>T c.(2275-2277)caG>caT p.Q759H NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 759 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGCCTTCAATCTGAACCTGCA 0.547000 23 183 2.89027e-11 3.54417e-11 0.624587 1 0 KMT2D 8085 broad.mit.edu 37 12 49425942 49425942 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:49425942C>A ENST00000301067.7 - 39 12545 c.12546G>T c.(12544-12546)ggG>ggT p.G4182G NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.G3912fs(2)|p.G4182fs(2) GCAGACCCTGCCCAGACTGGA 0.592000 6 127 0.248553 0.251335 0.248553 1 0 LUC7L3 51747 broad.mit.edu 37 17 48823139 48823139 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:48823139A>T ENST00000505658.1 + 8 941 c.752A>T c.(751-753)aAg>aTg p.K251M LUC7L3_ENST00000544170.1_Missense_Mutation_p.K175M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.K251M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.K251M O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 251 Arg/Ser-rich.|Glu-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AAAAAGGAGaagcaagaaaga 0.373000 5 13 0 0 0.184627 0 0 PCLO 27445 broad.mit.edu 37 7 82584021 82584021 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:82584021G>T ENST00000423517.2 - 5 6585 c.6248C>A c.(6247-6249)aCc>aAc p.T2083N PCLO_ENST00000333891.8_Missense_Mutation_p.T2083N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2014 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 GGGGGCCTGGGTTGGGCTAGA 0.463000 6 117 0.00116845 0.00125158 0.217242 1 0 NPC1L1 29881 broad.mit.edu 37 7 44579253 44579253 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:44579253C>A ENST00000289547.4 - 2 798 c.743G>T c.(742-744)gGt>gTt p.G248V NPC1L1_ENST00000423141.1_Missense_Mutation_p.G248V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G248V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G248V NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 248 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CACGTCGTCACCTTGGGACTC 0.627000 7 194 0.248553 0.251335 0.248553 1 0 MYO9A 4649 broad.mit.edu 37 15 72180388 72180388 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:72180388T>C ENST00000356056.5 - 27 5684 c.5212A>G c.(5212-5214)Acc>Gcc p.T1738A MYO9A_ENST00000564571.1_Missense_Mutation_p.T1738A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1809A|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1719A NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1738 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCCAACTTGGTAATCTCTCCT 0.333000 3 160 0 0 0.150653 0 0 TGFBR3 7049 broad.mit.edu 37 1 92177866 92177866 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:92177866C>A ENST00000212355.4 - 13 2565 c.2100G>T c.(2098-2100)ctG>ctT p.L700L TGFBR3_ENST00000370399.2_Silent_p.L699L|TGFBR3_ENST00000525962.1_Silent_p.L700L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 700 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GTAGAAAGAGCAGTGAGGTGT 0.478000 21 49 1.22574e-08 1.46333e-08 0.624587 1 0 MUC17 140453 broad.mit.edu 37 7 100677264 100677264 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:100677264C>A ENST00000306151.4 + 3 2631 c.2567C>A c.(2566-2568)cCa>cAa p.P856Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 856 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCAGCATGCCAACCTCAACT 0.483000 8 639 1.12685e-05 1.2724e-05 0.307466 1 0 ZBTB3 79842 broad.mit.edu 37 11 62520234 62520234 + Silent SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:62520234C>G ENST00000394807.3 - 2 1178 c.1053G>C c.(1051-1053)ctG>ctC p.L351L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TCACCTGGACCAGCTCAGCTT 0.567000 5 138 0 0 0.184627 0 0 RTP2 344892 broad.mit.edu 37 3 187416695 187416695 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:187416695C>T ENST00000358241.1 - 2 697 c.269G>A c.(268-270)cGc>cAc p.R90H NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 90 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CTTGAAGACGCGCATGCGCAC 0.647000 21 43 0 0 0.592651 0 0 EGF 1950 broad.mit.edu 37 4 110890205 110890205 + Nonsense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:110890205G>T ENST00000265171.5 + 11 2099 c.1654G>T c.(1654-1656)Gaa>Taa p.E552* EGF_ENST00000509793.1_Nonsense_Mutation_p.E510*|EGF_ENST00000503392.1_Nonsense_Mutation_p.E552* NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 552 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GCTTATTGAGGAAGGAGTAGA 0.453000 7 105 0.00198382 0.00209189 0.248553 1 0 UGT2B4 7363 broad.mit.edu 37 4 70360946 70360946 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:70360946T>C ENST00000305107.6 - 1 680 c.634A>G c.(634-636)Aaa>Gaa p.K212E UGT2B4_ENST00000512583.1_Missense_Mutation_p.K212E|UGT2B4_ENST00000381096.3_Missense_Mutation_p.K76E|UGT2B4_ENST00000506580.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 212 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ATCATATTTTTTACCCTCTCT 0.363000 19 52 0 0 0.592651 0 0 CALML5 51806 broad.mit.edu 37 10 5541247 5541247 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:5541247A>T ENST00000380332.3 - 1 286 c.155T>A c.(154-156)cTc>cAc p.L52H NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 52 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CTCGGAGATGAGTTTCCTTAG 0.647000 4 126 0 0 0.150653 0 0 GPR61 83873 broad.mit.edu 37 1 110086823 110086823 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:110086823G>A ENST00000527748.1 + 2 1862 c.1179G>A c.(1177-1179)gaG>gaA p.E393E NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 393 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GTCCTTCTGAGTCCTGGGTTT 0.602000 22 49 0 0 0.624587 0 0 CENPT 80152 broad.mit.edu 37 16 67865119 67865119 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:67865119T>A ENST00000445712.2 - 6 640 c.394A>T c.(394-396)Agt>Tgt p.S132C CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000562787.1_Splice_Site_p.N235_splice|CENPT_ENST00000219172.3_Splice_Site_p.N235_splice|CENPT_ENST00000440851.2_Splice_Site_p.N235_splice|CENPT_ENST00000564817.1_Splice_Site_p.N235_splice Q96BT3 CENPT_HUMAN centromere protein T 235 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CCAACCTTACTTGGAGGAGCC 0.612000 6 283 0 0 0.217242 0 0 FMO4 2329 broad.mit.edu 37 1 171303578 171303578 + Nonsense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:171303578G>T ENST00000367749.3 + 8 1186 c.856G>T c.(856-858)Gag>Tag p.E286* NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 286 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGTGAATGATGAGCTGCCAAA 0.373000 16 68 4.7546e-09 5.70132e-09 0.500413 1 0 C10orf137 26098 broad.mit.edu 37 10 127436201 127436201 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:127436201T>G ENST00000337623.3 + 19 2914 c.2809T>G c.(2809-2811)Tac>Gac p.Y937D RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.Y971D NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 971 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GTCCACTACTTACTTTACTAT 0.403000 60 102 0 0 0.870114 0 0 RCBTB2 1102 broad.mit.edu 37 13 49086282 49086282 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:49086282C>A ENST00000344532.3 - 8 968 c.545G>T c.(544-546)gGg>gTg p.G182V RCBTB2_ENST00000544904.1_Missense_Mutation_p.G158V|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G187V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_Intron NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 182 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TCCTACCTGCCCAGAGTTATT 0.408000 11 232 1.58986e-06 1.83342e-06 0.361761 1 0 CLPTM1L 81037 broad.mit.edu 37 5 1321749 1321749 + Splice_Site SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:1321749C>A ENST00000320895.5 - 15 1674 c.e15+1 CLPTM1L_ENST00000506641.1_Splice_Site|CLPTM1L_ENST00000320927.6_Splice_Site|CLPTM1L_ENST00000507807.1_Splice_Site NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GTCACACTCACCTTGTAGGTG 0.592000 5 129 5.9392e-07 6.9376e-07 0.217242 1 0 UMODL1 89766 broad.mit.edu 37 21 43529775 43529775 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr21:43529775C>T ENST00000400427.1 + 10 1803 c.1407C>T c.(1405-1407)gaC>gaT p.D469D UMODL1_ENST00000400424.1_Silent_p.D469D|UMODL1_ENST00000408989.2_Silent_p.D541D|UMODL1_ENST00000408910.2_Silent_p.D541D NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 541 SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACCAGGGACGCCACCCCCT 0.687000 4 47 0 0 0.217242 0 0 PPP2CB 5516 broad.mit.edu 37 8 30657106 30657106 + Nonsense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:30657106C>A ENST00000221138.4 - 2 718 c.268G>T c.(268-270)Gga>Tga p.G90* PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 90 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) GAATAATATCCTCTGTCTACA 0.343000 11 253 6.42651e-13 7.95244e-13 0.387290 1 0 EGFR 1956 broad.mit.edu 37 7 55231431 55231431 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:55231431C>A ENST00000275493.2 + 14 1814 c.1637C>A c.(1636-1638)cCa>cAa p.P546Q EGFR_ENST00000442591.1_Missense_Mutation_p.P546Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P546Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P493Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P546Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P501Q NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 546 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTCAGTGAGCCAAGGGAGTTT 0.517000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 13 310 4.36969e-10 5.31025e-10 0.435327 1 0 FAT3 120114 broad.mit.edu 37 11 92088408 92088408 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:92088408C>A ENST00000298047.6 + 1 3147 c.3130C>A c.(3130-3132)Cca>Aca p.P1044T FAT3_ENST00000409404.2_Missense_Mutation_p.P1044T|FAT3_ENST00000541502.1_Missense_Mutation_p.P1044T|FAT3_ENST00000525166.1_Missense_Mutation_p.P894T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1044 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCCTATTTCCCAGACTTTGC 0.507000 TCGA Ovarian(4;0.039) 4 59 0.00909568 0.00944417 0.150653 1 0 CLDN17 26285 broad.mit.edu 37 21 31538876 31538876 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr21:31538876C>T ENST00000286808.3 - 1 95 c.60G>A c.(58-60)ggG>ggA p.G20G NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 20 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 TGGCAAGAGTCCCCACCATGC 0.478000 36 91 0 0 0.812448 0 0 LMOD1 25802 broad.mit.edu 37 1 201868533 201868533 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:201868533G>A ENST00000367288.4 - 2 1854 c.1608C>T c.(1606-1608)ccC>ccT p.P536P RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 536 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GAGGGGGAGGGGGTGGTGGGG 0.577000 3 38 0 0 0.115264 0 0 ZNF648 127665 broad.mit.edu 37 1 182026716 182026716 + Nonsense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:182026716G>A ENST00000339948.3 - 2 637 c.430C>T c.(430-432)Cga>Tga p.R144* NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R144*(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GCAGGTAGTCGGTCCCCAAGA 0.577000 68 45 0 0 0.870114 0 0 WDR91 29062 broad.mit.edu 37 7 134889075 134889075 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:134889075G>A ENST00000354475.4 - 6 867 c.836C>T c.(835-837)gCt>gTt p.A279V WDR91_ENST00000344400.5_Missense_Mutation_p.A279V|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.A244V NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 279 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGGGCCCTGAGCAGGCGACAA 0.592000 7 92 0 0 0.248553 0 0 LOXL2 4017 broad.mit.edu 37 8 23191125 23191125 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:23191125G>A ENST00000389131.3 - 5 1124 c.755C>T c.(754-756)tCa>tTa p.S252L NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 252 SRCR 2. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CTTCCTCCGTGAGGCAAACAT 0.617000 6 61 0 0 0.217242 0 0 FZD1 8321 broad.mit.edu 37 7 90894572 90894572 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:90894572A>T ENST00000287934.2 + 1 790 c.377A>T c.(376-378)gAc>gTc p.D126V NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 126 FZ. autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CTGTGCACGGACATCGCGTAC 0.632000 17 84 0 0 0.557998 0 0 ESRRG 2104 broad.mit.edu 37 1 216850602 216850602 + Silent SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:216850602A>T ENST00000391890.3 - 4 736 c.219T>A c.(217-219)ccT>ccA p.P73P ESRRG_ENST00000361395.2_Silent_p.P73P|ESRRG_ENST00000359162.2_Silent_p.P73P|ESRRG_ENST00000493603.1_Silent_p.P73P|ESRRG_ENST00000487276.1_Silent_p.P73P|ESRRG_ENST00000463665.1_Silent_p.P73P|ESRRG_ENST00000366938.2_Silent_p.P73P|ESRRG_ENST00000408911.3_Silent_p.P96P|ESRRG_ENST00000493748.1_Silent_p.P73P|ESRRG_ENST00000366940.2_Silent_p.P73P|ESRRG_ENST00000361525.3_Silent_p.P73P|ESRRG_ENST00000360012.3_Silent_p.P73P|ESRRG_ENST00000366937.1_Silent_p.P101P NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 96 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GTTTCCTGACAGGCCCACTAC 0.517000 18 221 0 0 0.557998 0 0 RNF213 57674 broad.mit.edu 37 17 78338337 78338337 + Missense_Mutation SNP T T A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:78338337T>A ENST00000582970.1 + 42 11998 c.11855T>A c.(11854-11856)gTc>gAc p.V3952D CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2025D|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4001D NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACCGAGCACGTCTTCTTACTA 0.577000 13 62 0 0 0.435327 0 0 COPG2 26958 broad.mit.edu 37 7 130295824 130295824 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:130295824C>A ENST00000445977.2 - 9 826 c.737G>T c.(736-738)gGg>gTg p.G246V Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 246 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity large_intestine(1) 1 Melanoma(18;0.0435) AGACACTTACCCATCCTCAGT 0.368000 6 124 1.76689e-08 2.09095e-08 0.335167 1 0 LPCAT1 79888 broad.mit.edu 37 5 1488528 1488528 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:1488528G>A ENST00000283415.3 - 5 777 c.645C>T c.(643-645)acC>acT p.T215T NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 215 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TAATTAGGCAGGTCCTGTTTG 0.303000 7 201 0 0 0.278610 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325305 150325305 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:150325305G>T ENST00000493969.1 - 3 334 c.157C>A c.(157-159)Cct>Act p.P53T GIMAP6_ENST00000328902.5_Silent_p.L127L NM_001244071.1 NP_001231000.1 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 0 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGTCACCAGGAGCACGGCGT 0.627000 7 153 0.00198382 0.00209189 0.248553 1 0 SERPINB4 6318 broad.mit.edu 37 18 61305189 61305189 + Missense_Mutation SNP C C G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr18:61305189C>G ENST00000341074.5 - 8 1052 c.937G>C c.(937-939)Gac>Cac p.D313H SERPINB4_ENST00000356424.6_Missense_Mutation_p.D261H NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 CCTGAGAGGTCTGCATCCCCA 0.502000 4 73 0 0 0.150653 0 0 NUP160 23279 broad.mit.edu 37 11 47857319 47857319 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:47857319G>A ENST00000378460.2 - 7 1031 c.985C>T c.(985-987)Cct>Tct p.P329S NUP160_ENST00000528071.1_Missense_Mutation_p.P215S|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.P215S NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 329 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TTCTTCACAGGGACATACTCC 0.453000 18 178 0 0 0.539581 0 0 TTC19 54902 broad.mit.edu 37 17 15929998 15929998 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:15929998G>A ENST00000261647.5 + 9 1445 c.976G>A c.(976-978)Gca>Aca p.A326T TTC19_ENST00000486880.2_Missense_Mutation_p.A447T|TTC19_ENST00000497842.2_3'UTR NM_017775.3 NP_060245.3 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 326 cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding central_nervous_system(1)|lung(2)|skin(1)|stomach(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TAATCTAGCTGCAGTTTTGAT 0.428000 16 108 0 0 0.500413 0 0 SI 6476 broad.mit.edu 37 3 164772994 164772994 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:164772994A>T ENST00000264382.3 - 13 1562 c.1500T>A c.(1498-1500)gaT>gaA p.D500E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 500 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCAAAGTCCATCATATTGCA 0.328000 HNSCC(35;0.089) 8 207 0 0 0.278610 0 0 LOC645166 645166 broad.mit.edu 37 1 148933357 148933357 + RNA SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:148933357T>C ENST00000539543.1 + 0 243 NR_027355.1 CAAGACCTCATCAACAATTAA 0.453000 7 34 0 0 0.307466 0 0 LBP 3929 broad.mit.edu 37 20 37002604 37002604 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr20:37002604C>A ENST00000217407.2 + 14 1509 c.1348C>A c.(1348-1350)Ctt>Att p.L450I NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 450 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) AGGCTTCCCCCTTCCTCTGCT 0.483000 6 181 8.12818e-05 8.99077e-05 0.248553 1 0 EGFR 1956 broad.mit.edu 37 7 55238145 55238145 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:55238145C>T ENST00000344576.2 + 16 2271 c.2026C>T c.(2026-2028)Ccg>Tcg p.P676S EGFR_ENST00000442591.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000455089.1_Intron NM_201284.1 NP_958441.1 P00533 EGFR_HUMAN epidermal growth factor receptor 0 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTCTCTTCTGCCGTCAGAGTT 0.562000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 65 176 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179579856 179579856 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:179579856C>T ENST00000589042.1 - 90 26281 c.26057G>A c.(26056-26058)gGc>gAc p.G8686D TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8369 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7442D(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACTTCTTGCCGCTCCTAAG 0.443000 7 432 0 0 0.278610 0 0 GPR15 2838 broad.mit.edu 37 3 98251043 98251043 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:98251043G>A ENST00000284311.3 + 1 301 c.166G>A c.(166-168)Gga>Aga p.G56R NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 56 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TGTTCTCATGGGAGCGTTGCA 0.498000 9 111 0 0 0.307466 0 0 OXER1 165140 broad.mit.edu 37 2 42991086 42991086 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:42991086G>A ENST00000378661.2 - 1 315 c.234C>T c.(232-234)tcC>tcT p.S78S NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 78 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GCCCTCCAGAGGACCCCCCCA 0.627000 7 53 0 0 0.248553 0 0 MICU1 10367 broad.mit.edu 37 10 74234940 74234940 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:74234940C>T ENST00000398761.4 - 10 989 c.857G>A c.(856-858)gGa>gAa p.G286E MICU1_ENST00000401998.3_Missense_Mutation_p.G284E|MICU1_ENST00000418483.2_Missense_Mutation_p.G86E|MICU1_ENST00000361114.5_Missense_Mutation_p.G284E|MICU1_ENST00000398763.4_Missense_Mutation_p.G86E Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 284 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding CAGATCAGCTCCAAAAAAGTA 0.478000 11 18 0 0 0.387290 0 0 GABRG3 2567 broad.mit.edu 37 15 27772605 27772605 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:27772605A>G ENST00000333743.6 + 8 1146 c.892A>G c.(892-894)Acc>Gcc p.T298A RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 298 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GACCATGACCACCCTGAGCAC 0.582000 11 86 0 0 0.411799 0 0 ABCD2 225 broad.mit.edu 37 12 39947881 39947881 + Nonsense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:39947881C>A ENST00000308666.3 - 10 2191 c.2056G>T c.(2056-2058)Gaa>Taa p.E686* NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 686 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TCCAATTGTTCAAAGCGCCAA 0.348000 7 119 1.26484e-09 1.53024e-09 0.278610 1 0 MYH13 8735 broad.mit.edu 37 17 10233707 10233707 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:10233707C>T ENST00000418404.3 - 20 2595 c.2432G>A c.(2431-2433)aGg>aAg p.R811K RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R811K|MYH13_ENST00000570743.1_Missense_Mutation_p.R811K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 811 IQ. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTGTCACCTCCTCTCCATCAT 0.537000 3 31 0 0 0.150653 0 0 SFRP4 6424 broad.mit.edu 37 7 37955852 37955852 + Silent SNP C C T rs143563677 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:37955852C>T ENST00000436072.2 - 1 665 c.288G>A c.(286-288)ccG>ccA p.P96P EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 96 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CCGACTTGCACGGCTTGATAG 0.632000 10 90 0 0 0.411799 0 0 FBXL2 25827 broad.mit.edu 37 3 33427049 33427049 + Silent SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:33427049A>G ENST00000484457.1 + 15 1312 c.1221A>G c.(1219-1221)acA>acG p.T407T FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_Silent_p.T117T|FBXL2_ENST00000538892.1_Silent_p.T339T|FBXL2_ENST00000538181.1_Silent_p.T323T|FBXL2_ENST00000507198.1_Silent_p.T339T|FBXL2_ENST00000446237.3_Silent_p.T148T NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 407 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 CCCCACCGACAGCAGTGGCAG 0.532000 11 220 0 0 0.435327 0 0 SNW1 22938 broad.mit.edu 37 14 78189539 78189539 + Missense_Mutation SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:78189539G>T ENST00000261531.7 - 11 1177 c.1115C>A c.(1114-1116)gCa>gAa p.A372E SNW1_ENST00000555761.1_Missense_Mutation_p.A372E|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.A210E NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 372 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) ATCAGGAGCTGCCCTGGAAAG 0.517000 35 182 7.63505e-26 9.57915e-26 0.760397 1 0 SLC6A18 348932 broad.mit.edu 37 5 1246007 1246007 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:1246007G>A ENST00000324642.3 + 12 1824 c.1701G>A c.(1699-1701)gcG>gcA p.A567A NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 567 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGGGCTGGGCGCGCGCCGCCT 0.716000 4 60 0 0 0.150653 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54932700 54932700 + Silent SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:54932700G>A ENST00000293373.6 + 30 3295 c.3216G>A c.(3214-3216)caG>caA p.Q1072Q NCKAP1L_ENST00000545638.2_Silent_p.Q1022Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1072 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AGCTGGGCCAGGAGACTGACA 0.448000 3 87 0 0 0.150653 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468481 72468481 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:72468481C>T ENST00000373208.1 + 4 817 c.817C>T c.(817-819)Cgc>Tgc p.R273C ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 273 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CTCGGTGGTTCGCTTCCATGG 0.617000 8 125 0 0 0.307466 0 0 GCAT 23464 broad.mit.edu 37 22 38209492 38209492 + Missense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:38209492C>T ENST00000323205.6 + 4 593 c.530C>T c.(529-531)gCa>gTa p.A177V GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Missense_Mutation_p.A151V NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 151 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCAGAGGACGCAGTCCTGTCG 0.607000 5 14 0 0 0.184627 0 0 ATP2C2 9914 broad.mit.edu 37 16 84492949 84492949 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr16:84492949A>G ENST00000416219.2 + 23 2379 c.2290A>G c.(2290-2292)Atc>Gtc p.I764V ATP2C2_ENST00000262429.4_Missense_Mutation_p.I764V|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 764 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CGCCATGCAGATCCTATGGAT 0.637000 69 122 0 0 0.870114 0 0 DNAJC3 5611 broad.mit.edu 37 13 96412305 96412305 + Nonsense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:96412305G>A ENST00000602402.1 + 6 675 c.558G>A c.(556-558)tgG>tgA p.W186* DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.W135* NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 186 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) TTTGTGTTTGGGATGCAGAAC 0.343000 4 153 0 0 0.150653 0 0 ASXL3 80816 broad.mit.edu 37 18 31323177 31323177 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr18:31323177A>G ENST00000269197.5 + 12 3365 c.3365A>G c.(3364-3366)cAg>cGg p.Q1122R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CATCTCTTCCAGACCTCTAAA 0.507000 3 32 0 0 0.115264 0 0 CBLN3 643866 broad.mit.edu 37 14 24900024 24900024 + Nonsense_Mutation SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:24900024C>T ENST00000555436.1 - 1 136 c.68G>A c.(67-69)tGg>tAg p.W23* KHNYN_ENST00000556842.1_Missense_Mutation_p.H30Y|KHNYN_ENST00000251343.5_Missense_Mutation_p.H30Y|KHNYN_ENST00000553935.1_Missense_Mutation_p.H30Y Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 0 cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) ACAGCAGCCCCATGTGGAGCG 0.667000 9 15 0 0 0.307466 0 0 USH2A 7399 broad.mit.edu 37 1 216073542 216073542 + Missense_Mutation SNP G G C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:216073542G>C ENST00000366943.2 - 40 7855 c.7469C>G c.(7468-7470)tCt>tGt p.S2490C USH2A_ENST00000307340.3_Missense_Mutation_p.S2490C|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2490 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAACGATGCAGAAGGATTGGA 0.358000 HNSCC(13;0.011) 3 101 0 0 0.150653 0 0 C3orf22 152065 broad.mit.edu 37 3 126272152 126272152 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:126272152G>A ENST00000318225.2 - 2 460 c.82C>T c.(82-84)Ccg>Tcg p.P28S NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 28 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) CACCTGTACGGAAACTTCTTG 0.567000 6 467 0 0 0.217242 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19555888 19555888 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chrX:19555888T>G ENST00000397821.3 - 17 2193 c.1903A>C c.(1903-1905)Aaa>Caa p.K635Q SH3KBP1_ENST00000541422.1_Missense_Mutation_p.K374Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K598Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.K397Q NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 635 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 AATAACTGTTTAATCTCTCGT 0.438000 61 27 0 0 0.870114 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713716 32713716 + Missense_Mutation SNP G G C rs35633399 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:32713716G>C ENST00000374940.3 + 3 582 c.480G>C c.(478-480)gaG>gaC p.E160D NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 160 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGTTTCTGAGACCAGCTTCC 0.493000 8 376 0 0 0.335167 0 0 CUL4A 8451 broad.mit.edu 37 13 113914958 113914958 + Missense_Mutation SNP A A C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:113914958A>C ENST00000451881.1 + 19 2018 c.1769A>C c.(1768-1770)cAg>cCg p.Q590P CUL4A_ENST00000326335.4_Missense_Mutation_p.Q590P|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q690P|CUL4A_ENST00000375441.3_Missense_Mutation_p.Q590P NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 690 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) AGAGTGTTTCAGGATAGACAA 0.323000 3 70 0 0 0.115264 0 0 SLC11A2 4891 broad.mit.edu 37 12 51404506 51404506 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:51404506C>T ENST00000394904.3 - 2 142 c.93G>A c.(91-93)gtG>gtA p.V31V SLC11A2_ENST00000547688.1_Silent_p.V31V|SLC11A2_ENST00000541174.2_Silent_p.V2V|SLC11A2_ENST00000547198.1_Silent_p.V2V|SLC11A2_ENST00000262051.7_Silent_p.V2V|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000262052.5_Silent_p.V2V NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 2 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 CAGGACCCAGCACCATGGTGG 0.363000 10 53 0 0 0.435327 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278537 7278537 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:7278537A>G ENST00000436587.2 + 3 1095 c.872A>G c.(871-873)tAt>tGt p.Y291C C1GALT1_ENST00000402468.3_Missense_Mutation_p.Y291C|C1GALT1_ENST00000223122.2_Missense_Mutation_p.Y291C NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 291 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AATTACAACTATTATCCTCCT 0.313000 107 50 0 0 0.870114 0 0 FGD4 121512 broad.mit.edu 37 12 32777925 32777925 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:32777925A>G ENST00000427716.2 + 13 1982 c.1558A>G c.(1558-1560)Atc>Gtc p.I520V FGD4_ENST00000534526.2_Missense_Mutation_p.I657V|FGD4_ENST00000525053.1_Missense_Mutation_p.I632V|FGD4_ENST00000546442.1_Missense_Mutation_p.I427V|FGD4_ENST00000266482.3_Missense_Mutation_p.I272V|FGD4_ENST00000531134.1_Missense_Mutation_p.I605V NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 520 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TCAAGAAACCATCGATGCTTT 0.308000 117 121 0 0 0.870114 0 0 RBM26 64062 broad.mit.edu 37 13 79911341 79911341 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:79911341C>A ENST00000438737.2 - 19 3069 c.2629G>T c.(2629-2631)Ggg>Tgg p.G877W RBM26_ENST00000438724.1_Missense_Mutation_p.G853W|RBM26_ENST00000267229.7_Missense_Mutation_p.G850W Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 877 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ACACCTCGCCCTCGCCCTCGC 0.557000 7 107 8.12818e-05 8.99077e-05 0.248553 1 0 ZNF181 339318 broad.mit.edu 37 19 35232200 35232200 + Missense_Mutation SNP T T G rs143797666 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:35232200T>G ENST00000392232.3 + 6 1214 c.1046T>G c.(1045-1047)gTc>gGc p.V349G ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G|ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G Q2M3W8 ZN181_HUMAN zinc finger protein 181 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V241G(4) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTTAGCCATGTCTCATCACTT 0.413000 5 124 0 0 0.184627 0 0 ZDHHC11 79844 broad.mit.edu 37 5 825360 825360 + Silent SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:825360T>C ENST00000283441.8 - 8 1325 c.942A>G c.(940-942)aaA>aaG p.K314K ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 314 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AGCTCTTGGCTTTGACTCTGG 0.552000 13 186 0 0 0.500413 0 0 UBXN1 51035 broad.mit.edu 37 11 62445536 62445536 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:62445536C>T ENST00000294119.2 - 5 476 c.345G>A c.(343-345)cgG>cgA p.R115R UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Silent_p.R115R|UBXN1_ENST00000529640.1_Silent_p.R115R NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 115 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 CCAATGCCTCCCGTTCCTCTC 0.587000 5 124 0 0 0.217242 0 0 ABCB8 11194 broad.mit.edu 37 7 150737355 150737355 + Splice_Site SNP G G T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:150737355G>T ENST00000358849.4 + 10 1311 c.1217_splice c.e10-1 p.R406_splice ABCB8_ENST00000498578.1_Splice_Site_p.R406_splice|ABCB8_ENST00000542328.1_Splice_Site_p.R318_splice|ABCB8_ENST00000356058.4_Splice_Site_p.V445_splice|ABCB8_ENST00000297504.6_Splice_Site_p.R423_splice NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 423 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTCTGACAGGTCCATGGCCA 0.617000 6 158 0.00116845 0.00125158 0.217242 1 0 TMOD4 29765 broad.mit.edu 37 1 151146931 151146931 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:151146931C>T ENST00000416280.2 - 3 315 c.216G>A c.(214-216)ttG>ttA p.L72L Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 124 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTGTTGCTCCAAGTACTGCA 0.552000 73 288 0 0 0.870114 0 0 TBC1D12 23232 broad.mit.edu 37 10 96201765 96201765 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:96201765A>G ENST00000225235.4 + 2 1194 c.1084A>G c.(1084-1086)Atc>Gtc p.I362V NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 362 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) AACATCCAAAATCATTCAGCA 0.348000 3 117 0 0 0.115264 0 0 NOD1 10392 broad.mit.edu 37 7 30492295 30492295 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr7:30492295G>A ENST00000423334.2 - 7 1043 c.602C>T c.(601-603)aCa>aTa p.T201I NOD1_ENST00000222823.4_Silent_p.D246D Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 201 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 GACACAGCCTGTCACTTTCCT 0.617000 12 333 0 0 0.411799 0 0 TGFBR3 7049 broad.mit.edu 37 1 92177865 92177865 + Missense_Mutation SNP G G A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:92177865G>A ENST00000212355.4 - 13 2566 c.2101C>T c.(2101-2103)Ctc>Ttc p.L701F TGFBR3_ENST00000370399.2_Missense_Mutation_p.L700F|TGFBR3_ENST00000525962.1_Missense_Mutation_p.L701F NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 701 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TGTAGAAAGAGCAGTGAGGTG 0.478000 21 48 0 0 0.624587 0 0 GLP2R 9340 broad.mit.edu 37 17 9739771 9739771 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:9739771T>C ENST00000262441.5 + 3 874 c.361T>C c.(361-363)Tac>Cac p.Y121H GLP2R_ENST00000574745.1_5'UTR NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 121 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CTGCCCTTCATACTTACCTTG 0.448000 96 214 0 0 0.870114 0 0 PIBF1 10464 broad.mit.edu 37 13 73467981 73467981 + Missense_Mutation SNP A A T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr13:73467981A>T ENST00000326291.6 + 11 1720 c.1382A>T c.(1381-1383)aAa>aTa p.K461I NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 461 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CATCAAAGTAAATTAAAATCT 0.343000 32 81 0 0 0.740014 0 0 ECHS1 1892 broad.mit.edu 37 10 135182483 135182483 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:135182483T>C ENST00000368547.3 - 4 813 c.458A>G c.(457-459)tAt>tGt p.Y153C NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 153 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) CTCACCGGCATAGATGATATC 0.488000 17 53 0 0 0.575678 0 0 ATR 545 broad.mit.edu 37 3 142275364 142275364 + Missense_Mutation SNP T T G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:142275364T>G ENST00000350721.4 - 9 2060 c.1939A>C c.(1939-1941)Ata>Cta p.I647L ATR_ENST00000383101.3_Missense_Mutation_p.I583L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 647 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCAAGGAATATTCTTCTTGGA 0.383000 Other conserved DNA damage response genes 107 184 0 0 0.870114 0 0 NAT8 9027 broad.mit.edu 37 2 73868718 73868718 + Missense_Mutation SNP T T C rs74434404 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:73868718T>C ENST00000272425.3 - 2 187 c.38A>G c.(37-39)gAc>gGc p.D13G NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 13 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 CCACTGGCGGTCGCTCTCCTG 0.587000 11 161 0 0 0.387290 0 0 PLOD2 5352 broad.mit.edu 37 3 145789099 145789099 + Missense_Mutation SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:145789099C>A ENST00000282903.5 - 18 2137 c.1960G>T c.(1960-1962)Gtt>Ttt p.V654F PLOD2_ENST00000461497.1_Missense_Mutation_p.V314F|PLOD2_ENST00000360060.3_Missense_Mutation_p.V633F|PLOD2_ENST00000494950.1_Missense_Mutation_p.V599F|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 633 Fe2OG dioxygenase. protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TTCAGTGTAACTGGTGCAATG 0.408000 4 154 0.00024832 0.00027135 0.150653 1 0 MDM2 4193 broad.mit.edu 37 12 69233471 69233471 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:69233471A>G ENST00000462284.1 + 11 1638 c.1336A>G c.(1336-1338)Att>Gtt p.I446V MDM2_ENST00000360430.2_Missense_Mutation_p.I245V|MDM2_ENST00000356290.4_Missense_Mutation_p.I270V|MDM2_ENST00000350057.5_Missense_Mutation_p.I415V|MDM2_ENST00000258148.7_Missense_Mutation_p.I391V|MDM2_ENST00000348801.2_Missense_Mutation_p.I214V|MDM2_ENST00000299252.4_Missense_Mutation_p.I270V|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.I245V|MDM2_ENST00000517852.1_Missense_Mutation_p.I79V|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Missense_Mutation_p.I219V|MDM2_ENST00000258149.5_Missense_Mutation_p.I385V|MDM2_ENST00000393410.1_Missense_Mutation_p.I192V|MDM2_ENST00000393412.3_Missense_Mutation_p.I167V|MDM2_ENST00000393413.3_Missense_Mutation_p.I167V NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 440 Necessary for interaction with USP2. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ACCTTGTGTGATTTGTCAAGG 0.408000 A """sarcoma, glioma, colorectal, other""" 9 114 0 0 0.335167 0 0 OLFML2A 169611 broad.mit.edu 37 9 127572376 127572376 + Silent SNP C C T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:127572376C>T ENST00000373580.3 + 8 1644 c.1644C>T c.(1642-1644)atC>atT p.I548I OLFML2A_ENST00000288815.5_Silent_p.I334I NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 548 Olfactomedin-like. endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CCGAGGTGATCGTCCTGAGTC 0.662000 47 46 0 0 0.870114 0 0 PCDH15 65217 broad.mit.edu 37 10 56138621 56138621 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:56138621T>C ENST00000373965.2 - 4 633 c.239A>G c.(238-240)aAt>aGt p.N80S PCDH15_ENST00000395440.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N80S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N80S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N58S|PCDH15_ENST00000320301.6_Missense_Mutation_p.N80S|PCDH15_ENST00000437009.1_Missense_Mutation_p.N80S|PCDH15_ENST00000373955.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N58S|PCDH15_ENST00000395442.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N80S|PCDH15_ENST00000395445.1_Missense_Mutation_p.N80S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N85S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 80 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTAATCCACATTATCCTTTAA 0.423000 HNSCC(58;0.16) 37 300 0 0 0.804634 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560672 228560672 + Missense_Mutation SNP T T C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:228560672T>C ENST00000258403.3 - 4 1176 c.1105A>G c.(1105-1107)Atc>Gtc p.I369V SLC19A3_ENST00000541617.1_Missense_Mutation_p.I365V|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 369 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CACGCCCAGATATTGGCTGTG 0.428000 6 109 0 0 0.217242 0 0 OR5L2 26338 broad.mit.edu 37 11 55595192 55595192 + Silent SNP C C A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:55595192C>A ENST00000378397.1 + 1 498 c.498C>A c.(496-498)atC>atA p.I166I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I166I(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTCTTAGGATCCTCTTCTATA 0.478000 HNSCC(27;0.073) 13 431 0.00185496 0.00197911 0.435327 1 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 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 p.G197delG(1) 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) GGGGGGAgggggcggcggcggcg 0.665 7 3 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141110541 141110542 + Frame_Shift_Ins INS - - TT rs144480841 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr2:141110541_141110542insTT ENST00000389484.3 - 76 12601_12602 c.11630_11631insAA c.(11629-11631)aaafs p.K3877fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3877 EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.N3877S(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGCAGGTGTTATTTCTTTCTTG 0.307 TSP Lung(27;0.18) 12 271 --- --- --- --- AC018359.1 0 broad.mit.edu 37 3 34317623 34317626 + RNA DEL TCCT TCCT - rs75774239 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:34317623_34317626delTCCT ENST00000424786.1 + 0 159 cctccctccctcctttccttcctt 0.520 3 6 --- --- --- --- ZMYND10 51364 broad.mit.edu 37 3 50380780 50380781 + Frame_Shift_Ins INS - - C TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr3:50380780_50380781insC ENST00000231749.3 - 5 1739_1740 c.467_468insG c.(466-468)gccfs p.A156fs ZMYND10_ENST00000360165.3_Frame_Shift_Ins_p.A156fs|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 156 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCTCAGGGGGGCCACCACAGCC 0.604 TSP Lung(30;0.18) 7 120 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187542087 187542088 + Frame_Shift_Ins INS - - A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr4:187542087_187542088insA ENST00000441802.2 - 10 5861_5862 c.5652_5653insT c.(5650-5655)taaagcfs p.*S1884fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1884 Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGAGATGCTTCATATAATGGCT 0.396 HNSCC(5;0.00058) 16 56 --- --- --- --- NPR3 4883 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 10 322 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65349867 65349867 + Frame_Shift_Del DEL A A - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:65349867delA ENST00000284037.5 + 21 3110 c.2721delA c.(2719-2721)ggfs p.G907fs ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 907 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTGTTGATGGAAAAAATATAG 0.378 8 2177 --- --- --- --- FAM153B 202134 broad.mit.edu 37 5 175540969 175540989 + In_Frame_Del DEL AAGCCCAAGAAGAAAACCAGG AAGCCCAAGAAGAAAACCAGG - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr5:175540969_175540989delAAGCCCAAGAAGAAAACCAGG ENST00000253490.4 + 21 1138_1158 c.1081_1101delAAGCCCAAGAAGAAAACCAGG c.(1081-1101)del p.KPKKKTR361del FAM153B_ENST00000512862.1_In_Frame_Del_p.KPKKKTR118del|FAM153B_ENST00000515817.1_In_Frame_Del_p.KPKKKTR284del|FAM153B_ENST00000510151.1_In_Frame_Del_p.KPKKKTR284del P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 361 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) GAAAACCAGAAAGCCCAAGAAGAAAACCAGGAAGCCCAGCA 0.471 4 7 --- --- --- --- HLA-DQB1 3119 broad.mit.edu 37 6 32632675 32632675 + Frame_Shift_Del DEL C C - rs41556424 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:32632675delC ENST00000399084.1 - 3 457 c.279delG c.(277-279)tgfs p.W93fs HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.W93fs|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.W93fs P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 93 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGGCTGTTCCAGTACTCGG 0.637 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjögren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 8 206 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 8 664 --- --- --- --- UBXN8 7993 broad.mit.edu 37 8 30612473 30612474 + RNA INS - - T rs34741520 TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:30612473_30612474insT ENST00000519246.1 + 0 604 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 GGGGTTGGTCGttttttttttt 0.391 3 5 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50103332 50103333 + RNA INS - - CTTC rs79172779 by1000genomes TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr8:50103332_50103333insCTTC ENST00000518222.1 + 0 271 ttccttccttcctttcttcctt 0.416 3 4 --- --- --- --- ERCC6L2 375748 broad.mit.edu 37 9 98718215 98718215 + Frame_Shift_Del DEL T T - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr9:98718215delT ENST00000288985.7 + 13 2205 c.1900delT c.(1900-1902)gtfs p.C634fs ERCC6L2_ENST00000437817.1_Frame_Shift_Del_p.C445fs|ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 634 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding GATTGGACAATGTAGAGATGT 0.358 14 170 --- --- --- --- PGAM1 5223 broad.mit.edu 37 10 99186064 99186065 + Translation_Start_Site INS - - A TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr10:99186064_99186065insA ENST00000334828.5 + 0 148_149 NM_002629.2 NP_002620.1 P18669 PGAM1_HUMAN phosphoglycerate mutase 1 (brain) gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(252;0.162) Epithelial(162;8.36e-10)|all cancers(201;5.62e-08) AGCCCGCCGCCATGGCCGCCTA 0.713 12 41 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47594940 47594940 + Frame_Shift_Del DEL C C - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:47594940delC ENST00000533290.1 - 3 1888 c.1174delG c.(1174-1176)ctfs p.A392fs PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.A367fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.A383fs|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 367 NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 CCTGACACAGCCACCTCTAGC 0.507 9 128 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892538 58892542 + Frame_Shift_Del DEL AAATT AAATT - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:58892538_58892542delAAATT ENST00000343597.3 + 4 1159_1163 c.968_972delAAATT c.(967-972)cfs p.QI323fs FAM111B_ENST00000411426.1_Frame_Shift_Del_p.QI293fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.QI293fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 323 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 AGCAGAGAGCAAATTCTCCCACCTC 0.366 12 177 --- --- --- --- TMPRSS13 84000 broad.mit.edu 37 11 117789435 117789449 + In_Frame_Del DEL GCTGGAGATGCCTGG GCTGGAGATGCCTGG - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr11:117789435_117789449delGCTGGAGATGCCTGG ENST00000528626.1 - 2 199_213 c.126_140delCCAGGCATCTCCAGC c.(124-141)gct>gc p.AQASPA42del TMPRSS13_ENST00000524993.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.AQASPA42del|TMPRSS13_ENST00000430170.2_In_Frame_Del_p.AQASPA42del NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 42 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AGGTGTCCCAGCTGGAGATGCCTGGGCTGGAGATG 0.660 51 53 --- --- --- --- KRT3 3850 broad.mit.edu 37 12 53189414 53189431 + In_Frame_Del DEL CCAAAGCCACCAGCCCCT CCAAAGCCACCAGCCCCT - rs142692092 by1000genomes TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT ENST00000417996.2 - 1 470_487 c.396_413delAGGGGCTGGTGGCTTTGG c.(394-414)ggt>gg p.GGAGGFG132del KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 132 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 accaggaccaccaaagccaccagcccctccaaagccac 0.633 10 11 --- --- --- --- NRXN3 9369 broad.mit.edu 37 14 79933679 79933679 + Frame_Shift_Del DEL G G - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:79933679delG ENST00000281127.7 + 2 1242 c.363delG c.(361-363)gtfs p.V121fs NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000335750.5_Frame_Shift_Del_p.V753fs|NRXN3_ENST00000557594.1_Frame_Shift_Del_p.V121fs|NRXN3_ENST00000554719.1_Frame_Shift_Del_p.V753fs NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 121 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCACCACTGTGAAGGATGGCA 0.562 7 289 --- --- --- --- MIR381HG 378881 broad.mit.edu 37 14 101513129 101513130 + RNA INS - - TGG rs60759868 by1000genomes TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:101513129_101513130insTGG ENST00000553692.1 + 0 28 GAAACTATCATtggtggtggtg 0.515 2 4 --- --- --- --- IGHV3-21 28444 broad.mit.edu 37 14 106691798 106691800 + RNA DEL AAC AAC - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr14:106691798_106691800delAAC ENST00000390607.2 - 0 302_304 TAGTATATGTAACTACTACTACT 0.517 30 583 --- --- --- --- MAPK6 5597 broad.mit.edu 37 15 52338753 52338754 + Frame_Shift_Ins INS - - T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:52338753_52338754insT ENST00000261845.5 + 2 903_904 c.96_97insT c.(94-99)ggtggtfs p.G33fs NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 33 Protein kinase. cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GAGGCAATGGCTTGGTTTTTTC 0.396 18 174 --- --- --- --- LINGO1 84894 broad.mit.edu 37 15 77907760 77907760 + Frame_Shift_Del DEL A A - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr15:77907760delA ENST00000355300.6 - 2 663 c.489delT c.(487-489)ttfs p.F163fs LINGO1_ENST00000561030.1_Frame_Shift_Del_p.F157fs NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 163 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 ACAGGTCCTGAAACATGTAGT 0.552 13 283 --- --- --- --- KCNAB3 9196 broad.mit.edu 37 17 7829006 7829007 + Frame_Shift_Ins INS - - T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr17:7829006_7829007insT ENST00000303790.2 - 7 531_532 c.532_533insA c.(532-534)tgafs p.*178fs NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 178 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CTCACCCTCAATGATGTGCTTT 0.500 70 681 --- --- --- --- ITPKC 80271 broad.mit.edu 37 19 41223266 41223267 + Frame_Shift_Ins INS - - T TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr19:41223266_41223267insT ENST00000263370.2 + 1 259_260 c.226_227insT c.(226-228)cggfs p.R76fs NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 76 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GAGGGCCGGCCTCGGGCCTGCG 0.757 7 29 --- --- --- --- SUN2 25777 broad.mit.edu 37 22 39141797 39141797 + Frame_Shift_Del DEL G G - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:39141797delG ENST00000405510.1 - 9 1063 c.705delC c.(703-705)ccfs p.P235fs SUN2_ENST00000216064.4_Frame_Shift_Del_p.P235fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Frame_Shift_Del_p.P224fs|SUN2_ENST00000406622.1_Frame_Shift_Del_p.P235fs|SUN2_ENST00000405018.1_Frame_Shift_Del_p.P256fs NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 235 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GCAGCCCATAGGGGTAGAAAT 0.622 21 39 --- --- --- --- NUP50 10762 broad.mit.edu 37 22 45579372 45579372 + Frame_Shift_Del DEL A A - TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b3fec35-d127-4cb5-859b-edac003acdf3 5e8d7595-2397-40ce-8c2e-63b352605fe6 g.chr22:45579372delA ENST00000347635.3 + 7 1641 c.1175delA c.(1174-1176)cgfs p.Q392fs NUP50_ENST00000407019.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000396096.2_Frame_Shift_Del_p.Q364fs|NUP50_ENST00000425733.2_Frame_Shift_Del_p.Q142fs NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 392 RanBD1. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CAGAAGACACAGCTTTTGGTG 0.383 34 84 --- --- --- ---