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 LOC101927209 101927209 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 6 18 0 0 0.000157383 0 0 MUC16 94025 broad.mit.edu 37 19 9057011 9057011 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:9057011G>A ENST00000397910.4 - 3 30638 c.30435C>T c.(30433-30435)tcC>tcT p.S10145S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10147 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCATTGATGTGGAAATAGAGG 0.458000 19 32 0 0 7.07596e-05 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032880 193032880 + Missense_Mutation SNP T T A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:193032880T>A ENST00000342358.4 - 18 2156 c.2039A>T c.(2038-2040)aAa>aTa p.K680I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 680 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGACTCCACTTTTTCTCTTTG 0.328000 31 56 0 0 0.00058488 0 0 PEX5L 51555 broad.mit.edu 37 3 179593214 179593214 + Missense_Mutation SNP C C T rs143237596 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:179593214C>T ENST00000467460.1 - 6 887 c.557G>A c.(556-558)cGa>cAa p.R186Q PEX5L_ENST00000476138.1_Missense_Mutation_p.R143Q|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.R78Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Missense_Mutation_p.R184Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.R78Q|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.R127Q|PEX5L_ENST00000485199.1_Missense_Mutation_p.R151Q|PEX5L_ENST00000465751.1_Missense_Mutation_p.R162Q NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 186 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTTGGTATTTCGATCTCCATG 0.448000 32 47 0 0 0.000339439 0 0 NELL2 4753 broad.mit.edu 37 12 44913862 44913862 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:44913862C>T ENST00000429094.2 - 19 2830 c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K NELL2_ENST00000452445.2_Missense_Mutation_p.E776K|NELL2_ENST00000549027.1_Missense_Mutation_p.E775K|NELL2_ENST00000395487.2_Missense_Mutation_p.E775K|NELL2_ENST00000333837.4_Missense_Mutation_p.E799K|NELL2_ENST00000551601.1_Missense_Mutation_p.E728K|NELL2_ENST00000437801.2_Missense_Mutation_p.E826K NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 776 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACATTCATTTCGTCCAGGCAA 0.498000 39 39 0 0 0.000437636 0 0 PTPN5 84867 broad.mit.edu 37 11 18750513 18750513 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:18750513C>T ENST00000396170.1 - 15 2834 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K PTPN5_ENST00000396171.4_Missense_Mutation_p.E556K|PTPN5_ENST00000396167.2_Missense_Mutation_p.E524K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E556K|PTPN5_ENST00000396166.3_Missense_Mutation_p.E162K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.E532K|PTPN5_ENST00000477854.1_Missense_Mutation_p.E360K NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 556 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AGCTGCTTTTCGTAGAGGCTC 0.622000 34 31 0 0 0.000191422 0 0 FCRL1 115350 broad.mit.edu 37 1 157771705 157771705 + Splice_Site SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:157771705C>T ENST00000358292.3 - 5 937 c.886_splice c.e5+1 p.G296_splice FCRL1_ENST00000491942.1_Splice_Site_p.V296_splice|FCRL1_ENST00000368176.3_Splice_Site_p.V296_splice|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 335 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGAGCTATACCTGTGAAGTTG 0.552000 39 47 0 0 0.000437636 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 75 0 0 3.59834e-05 0 0 BAGE2 85319 broad.mit.edu 37 21 11038893 11038893 + RNA SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:11038893C>T ENST00000470054.1 - 0 1310 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAGGCAAGTCTGAAGAAGGT 0.423000 22 351 0 0 0.000375601 0 0 DLGAP5 9787 broad.mit.edu 37 14 55655776 55655776 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:55655776C>T ENST00000247191.2 - 2 338 c.122G>A c.(121-123)cGa>cAa p.R41Q DLGAP5_ENST00000395425.2_Missense_Mutation_p.R41Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 41 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 GTGTCTATTTCGTTCGTATTC 0.353000 27 40 0 0 0.000227799 0 0 FBN3 84467 broad.mit.edu 37 19 8176585 8176585 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:8176585G>A ENST00000600128.1 - 32 4445 c.4031C>T c.(4030-4032)tCc>tTc p.S1344F FBN3_ENST00000601739.1_Missense_Mutation_p.S1344F|FBN3_ENST00000270509.2_Missense_Mutation_p.S1344F Q75N90 FBN3_HUMAN fibrillin 3 1344 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCAGCGGTAGGAGCCAGGGAC 0.647000 19 38 0 0 9.7654e-05 0 0 DCST1 149095 broad.mit.edu 37 1 155011916 155011916 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:155011916C>T ENST00000295542.1 + 5 396 c.300C>T c.(298-300)atC>atT p.I100I DCST1_ENST00000392480.1_Silent_p.I100I|DCST1_ENST00000423025.2_Silent_p.I75I|DCST1_ENST00000368419.2_Silent_p.I100I NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 100 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCCCTCACATCCGCTGTGCCA 0.602000 59 64 0 0 0.000147903 0 0 TRAV36DV7 28646 broad.mit.edu 37 14 22694915 22694915 + RNA SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:22694915G>A ENST00000390463.3 + 0 122 GGTTGTCCACGAGGGAGACAC 0.438000 28 35 0 0 0.000147802 0 0 LTB 4050 broad.mit.edu 37 6 31550182 31550182 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31550182C>T ENST00000429299.2 - 1 20 c.13G>A c.(13-15)Ggg>Agg p.G5R LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Missense_Mutation_p.G5R NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 5 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CCCTCCAGCCCCAGTGCCCCC 0.652000 24 18 0 0 0.000117367 0 0 EPPIN 57119 broad.mit.edu 37 20 44171395 44171395 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:44171395C>T ENST00000354280.4 - 3 401 c.335G>A c.(334-336)gGa>gAa p.G112E EPPIN_ENST00000555685.1_Missense_Mutation_p.G112E|EPPIN_ENST00000336443.3_Missense_Mutation_p.G96E|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.G112E|EPPIN_ENST00000409554.1_Splice_Site_p.G75_splice NM_020398.3 NP_065131.1 epididymal peptidase inhibitor GTTATTGTTTCCCTGGCAGCC 0.468000 57 84 0 0 0.000147903 0 0 EPPK1 83481 broad.mit.edu 37 8 144940333 144940333 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:144940333G>A ENST00000525985.1 - 2 7160 c.7089C>T c.(7087-7089)taC>taT p.Y2363Y P58107 EPIPL_HUMAN epiplakin 1 2363 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCGCGCCGGTAGGCCACGT 0.692000 19 563 0 0 9.22233e-05 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516849 140516849 + Silent SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140516849C>A ENST00000231134.5 + 1 2050 c.1833C>A c.(1831-1833)ccC>ccA p.P611P NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 611 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGGAGCCCGGGCTGTTCA 0.701000 62 18 1.74971e-23 5.79122e-22 0.000147903 1 0 XYLT1 64131 broad.mit.edu 37 16 17211549 17211549 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:17211549G>A ENST00000261381.6 - 11 2595 c.2511C>T c.(2509-2511)ttC>ttT p.F837F NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 837 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCGCAACGAGGAATTTGGTCT 0.532000 21 45 0 0 0.000132079 0 0 VNN3 55350 broad.mit.edu 37 6 133055466 133055466 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:133055466C>T ENST00000425515.2 - 2 342 c.270G>A c.(268-270)agG>agA p.R90R VNN3_ENST00000509351.1_Silent_p.R90R|VNN3_ENST00000417437.2_Silent_p.R122R|VNN3_ENST00000392394.2_Silent_p.R90R|VNN3_ENST00000414302.2_Silent_p.R90R|VNN3_ENST00000275223.3_Silent_p.R90R|VNN3_ENST00000450865.2_Silent_p.R91R|VNN3_ENST00000423615.2_Silent_p.R90R|VNN3_ENST00000519686.2_Silent_p.R90R|VNN3_ENST00000207771.3_Silent_p.R90R|VNN3_ENST00000367927.5_Silent_p.R90R|VNN3_ENST00000427187.2_Silent_p.R90R|VNN3_ENST00000392393.3_Silent_p.R90R vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AAATGCTCTCCCTGGTGAAGA 0.428000 21 8 0 0 0.000175454 0 0 LIG1 3978 broad.mit.edu 37 19 48664688 48664688 + Silent SNP G G T rs3730863 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:48664688G>T ENST00000263274.7 - 4 603 c.184C>A c.(184-186)Cgg>Agg p.R62R LIG1_ENST00000427526.2_Silent_p.R32R|LIG1_ENST00000536218.1_Silent_p.R62R|LIG1_ENST00000599165.1_Intron NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 62 R -> W (in dbSNP:rs3730863). anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCCAGGACCCGGGCCGCCTTC 0.607000 Nucleotide excision repair (NER) 6 177 8.12818e-05 0.00253477 8.12818e-05 1 0 NAV1 89796 broad.mit.edu 37 1 201782312 201782312 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:201782312C>T ENST00000367296.4 + 28 5686 c.5266C>T c.(5266-5268)Cgg>Tgg p.R1756W NAV1_ENST00000295624.6_Missense_Mutation_p.R1753W|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R1748W|NAV1_ENST00000367302.1_Missense_Mutation_p.R1709W|NAV1_ENST00000367295.1_Missense_Mutation_p.R1362W|NAV1_ENST00000367300.3_Missense_Mutation_p.R1696W NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1756 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGAGGACTTCCGGACCTGGTT 0.522000 23 45 0 0 9.22233e-05 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279585 53279585 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:53279585G>A ENST00000396435.3 - 5 2373 c.2173C>T c.(2173-2175)Ccg>Tcg p.P725S IQSEC2_ENST00000375368.5_Missense_Mutation_p.P715S|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P520S NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 715 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CCGGTAGCCGGAGGCTCCCTT 0.572000 13 2 0 0 0.00010058 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529400 5529400 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:5529400G>A ENST00000311659.4 - 2 1536 c.1389C>T c.(1387-1389)tcC>tcT p.S463S HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 463 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCCGTGGGGGAAAAAGATA 0.547000 25 27 0 0 0.000586117 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233660 63233660 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:63233660G>A ENST00000540857.1 - 5 771 c.639C>T c.(637-639)atC>atT p.I213I HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000301790.4_Silent_p.I223I NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 223 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTACTGCACGATCTTGTTGA 0.517000 48 41 0 0 0.000125731 0 0 GGT6 124975 broad.mit.edu 37 17 4463750 4463750 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:4463750C>T ENST00000301395.3 - 1 126 c.67G>A c.(67-69)Gag>Aag p.E23K GGT6_ENST00000574154.1_Missense_Mutation_p.E23K|GGT6_ENST00000381550.3_Missense_Mutation_p.E23K NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 23 Poly-Glu. glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 ACTTCCTCCTCCGACTCCAAG 0.642000 31 40 0 0 0.000409698 0 0 MADD 8567 broad.mit.edu 37 11 47345360 47345360 + Missense_Mutation SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:47345360C>A ENST00000342922.4 + 28 4696 c.4339C>A c.(4339-4341)Cag>Aag p.Q1447K MADD_ENST00000395336.3_Missense_Mutation_p.Q1506K|MADD_ENST00000395344.3_Missense_Mutation_p.Q1400K|MADD_ENST00000402192.2_Missense_Mutation_p.Q1446K|MADD_ENST00000349238.3_Missense_Mutation_p.Q1467K|MADD_ENST00000311027.5_Missense_Mutation_p.Q1506K|MADD_ENST00000407859.3_Missense_Mutation_p.Q1424K|MADD_ENST00000406482.1_Missense_Mutation_p.Q1404K|MADD_ENST00000405573.2_Missense_Mutation_p.Q316K|MADD_ENST00000402799.1_Missense_Mutation_p.Q1404K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1506 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTGAGACCCAGCTCAACAA 0.463000 31 20 3.76114e-14 1.22237e-12 0.000132358 1 0 MAP2K3 5606 broad.mit.edu 37 17 21215477 21215477 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21215477C>T ENST00000342679.4 + 10 1047 c.798C>T c.(796-798)ttC>ttT p.F266F MAP2K3_ENST00000361818.5_Silent_p.F237F|MAP2K3_ENST00000316920.6_Silent_p.F237F NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 266 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TCCTGCGGTTCCCTTACGAGT 0.672000 4 37 0 0 1.23904e-05 0 0 CPQ 10404 broad.mit.edu 37 8 97797463 97797463 + Missense_Mutation SNP G G T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:97797463G>T ENST00000220763.5 + 2 548 c.338G>T c.(337-339)tGg>tTg p.W113L NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 113 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity ATACCCCACTGGGAGAGGGGA 0.498000 17 52 3.99206e-14 1.28965e-12 9.7654e-05 1 0 SNHG14 104472715 broad.mit.edu 37 15 25444523 25444523 + RNA SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:25444523C>T ENST00000424208.1 + 0 1796 SNHG14_ENST00000424333.1_RNA NR_003305.1 GTCCTGGTTTCCTACACTGAG 0.587000 30 10 0 0 0.000147802 0 0 AIPL1 23746 broad.mit.edu 37 17 6329120 6329120 + Missense_Mutation SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:6329120C>A ENST00000381129.3 - 6 895 c.815G>T c.(814-816)cGg>cTg p.R272L AIPL1_ENST00000576776.1_Missense_Mutation_p.R248L|AIPL1_ENST00000576307.1_Missense_Mutation_p.R212L|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Missense_Mutation_p.R260L|AIPL1_ENST00000250087.5_Missense_Mutation_p.R209L|AIPL1_ENST00000570466.1_Missense_Mutation_p.R250L NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 272 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TGCGTGAGCCCGGGCACGCAC 0.667000 17 26 6.94344e-10 2.21656e-08 7.07596e-05 1 0 PIAS3 10401 broad.mit.edu 37 1 145578322 145578322 + Silent SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:145578322C>A ENST00000393045.2 + 2 375 c.285C>A c.(283-285)ccC>ccA p.P95P PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Silent_p.P86P NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 95 Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCTAGCTCCCATTCCCCCAA 0.657000 50 57 3.81248e-40 1.27754e-38 0.000147903 1 0 KMT2C 58508 broad.mit.edu 37 7 151945151 151945151 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:151945151C>T ENST00000355193.2 - 14 2586 c.2368G>A c.(2368-2370)Gac>Aac p.D790N KMT2C_ENST00000262189.6_Missense_Mutation_p.D790N lysine (K)-specific methyltransferase 2C GAAGGCAAGTCTGAAGAAGGT 0.423000 19 478 0 0 0.000147802 0 0 TEX15 56154 broad.mit.edu 37 8 30705724 30705724 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:30705724G>A ENST00000256246.2 - 1 884 c.810C>T c.(808-810)atC>atT p.I270I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 270 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTATTGGACTGATTTTTGTTT 0.313000 43 14 0 0 0.000270559 0 0 HOXC6 3223 broad.mit.edu 37 12 54423524 54423524 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:54423524C>T ENST00000394331.3 + 3 1950 c.240C>T c.(238-240)ttC>ttT p.F80F HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Silent_p.F162F|HOXC4_ENST00000303406.4_Intron NM_153693.3 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 162 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AATTTCACTTCAATCGCTACC 0.607000 56 82 0 0 0.000147903 0 0 FAM47A 158724 broad.mit.edu 37 X 34150006 34150006 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:34150006G>A ENST00000346193.3 - 1 441 c.390C>T c.(388-390)ccC>ccT p.P130P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 130 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACATGGCCAAGGGATGCTTGG 0.557000 40 18 0 0 0.000270559 0 0 SPTB 6710 broad.mit.edu 37 14 65269006 65269006 + Silent SNP T T C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:65269006T>C ENST00000389722.3 - 4 557 c.504A>G c.(502-504)gaA>gaG p.E168E SPTB_ENST00000542895.1_Silent_p.E168E|SPTB_ENST00000556626.1_Silent_p.E168E|SPTB_ENST00000389720.3_Silent_p.E168E|SPTB_ENST00000389721.5_Silent_p.E168E NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 168 Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTTCACGACCTTCCTGAGTTT 0.532000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 13 0 0 0.00010058 0 0 CATSPERB 79820 broad.mit.edu 37 14 92157878 92157878 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:92157878C>T ENST00000256343.3 - 10 1009 c.853G>A c.(853-855)Ggt>Agt p.G285S NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 285 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTTCAAAACCACAAAAGTCT 0.328000 81 117 0 0 0.000147903 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394647 17394647 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:17394647C>T ENST00000394458.3 + 5 1350 c.1074C>T c.(1072-1074)gtC>gtT p.V358V ANKLE1_ENST00000594072.1_Silent_p.V347V|ANKLE1_ENST00000598347.1_Silent_p.V358V|ANKLE1_ENST00000404085.1_Silent_p.V380V|ANKLE1_ENST00000433424.2_Silent_p.V412V NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 358 LEM. nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 ACCTGCCAGTCTCCACTGTGT 0.582000 26 31 0 0 0.00047179 0 0 CDR1 1038 broad.mit.edu 37 X 139865915 139865915 + Nonsense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:139865915C>T ENST00000370532.2 - 1 808 c.617G>A c.(616-618)tGg>tAg p.W206* NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 206 5 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GGAAAAAATCCAGGTCTTCCA 0.448000 75 24 0 0 0.000147903 0 0 LPHN3 23284 broad.mit.edu 37 4 62813993 62813993 + Splice_Site SNP A A G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:62813993A>G ENST00000512091.1 + 16 3347 c.2601_splice c.e16+1 p.K867_splice LPHN3_ENST00000507164.1_Splice_Site_p.K935_splice|LPHN3_ENST00000504896.1_Splice_Site_p.K867_splice|LPHN3_ENST00000506720.1_Splice_Site_p.K935_splice|LPHN3_ENST00000507625.1_Splice_Site_p.K935_splice|LPHN3_ENST00000508693.1_Splice_Site_p.K935_splice|LPHN3_ENST00000514996.1_Splice_Site_p.K867_splice|LPHN3_ENST00000545650.1_Splice_Site_p.K867_splice|LPHN3_ENST00000508946.1_Splice_Site_p.K867_splice|LPHN3_ENST00000514157.1_Splice_Site_p.K867_splice|LPHN3_ENST00000514591.1_Splice_Site_p.K867_splice|LPHN3_ENST00000509896.1_Splice_Site_p.K935_splice|LPHN3_ENST00000506746.1_Splice_Site_p.K935_splice|LPHN3_ENST00000506700.1_Splice_Site_p.K867_splice|LPHN3_ENST00000511324.1_Splice_Site_p.K935_splice Q9HAR2 LPHN3_HUMAN latrophilin 3 854 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GTGGAAGTTAAGGTAAGATAT 0.343000 18 26 0 0 9.7654e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168099467 168099467 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:168099467C>T ENST00000409195.1 + 9 1654 c.1565C>T c.(1564-1566)tCt>tTt p.S522F XIRP2_ENST00000295237.9_Missense_Mutation_p.S522F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S300F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 347 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 AGTGAAGTTTCTGAGATTGTT 0.328000 11 3 0 0 6.40141e-05 0 0 SERINC3 10955 broad.mit.edu 37 20 43142583 43142583 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:43142583G>A ENST00000342374.4 - 2 295 c.138C>T c.(136-138)ctC>ctT p.L46L SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Silent_p.L46L|SERINC3_ENST00000541235.1_5'UTR NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 46 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TGCTCAGGAGGAGAATGAAAG 0.438000 28 64 0 0 0.000117367 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180667 142180667 + RNA SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:142180667C>T ENST00000390368.2 - 0 257 AGTAATGAATCAGCCTCAGCC 0.517000 28 240 0 0 0.000147903 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474556 140474556 + Missense_Mutation SNP T T C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140474556T>C ENST00000194155.4 + 1 330 c.182T>C c.(181-183)cTt>cCt p.L61P NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 61 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAGGAGAACTTGCTGTGAGG 0.502000 29 9 0 0 0.000184323 0 0 ITGAL 3683 broad.mit.edu 37 16 30522249 30522249 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:30522249G>A ENST00000356798.6 + 23 2847 c.2667G>A c.(2665-2667)ggG>ggA p.G889G ITGAL_ENST00000433423.2_Silent_p.G123G|ITGAL_ENST00000358164.5_Silent_p.G805G NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 889 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCTCCTGGGGGGACTCGGTTG 0.567000 22 31 0 0 0.000295444 0 0 GPR65 8477 broad.mit.edu 37 14 88477401 88477401 + Nonsense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:88477401G>A ENST00000267549.3 + 2 768 c.210G>A c.(208-210)tgG>tgA p.W70* RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 70 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TCCCTTTATGGATTGATTATA 0.393000 56 81 0 0 0.000147903 0 0 GPAA1 8733 broad.mit.edu 37 8 145139185 145139185 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:145139185C>T ENST00000355091.4 + 6 886 c.765C>T c.(763-765)ttC>ttT p.F255F GPAA1_ENST00000527144.1_Intron|GPAA1_ENST00000361036.6_Silent_p.F195F NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 255 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCAATCTCTTCCAGACCTTCT 0.642000 57 47 0 0 0.000147903 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:57828183G>A ENST00000371030.2 + 4 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGGACAAACGAACTGTGAAG 0.468000 50 85 0 0 0.000147903 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177173 67177173 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:67177173G>A ENST00000312390.5 + 10 1318 c.1289G>A c.(1288-1290)gGg>gAg p.G430E TBC1D10C_ENST00000542590.1_Missense_Mutation_p.G430E|TBC1D10C_ENST00000526387.1_3'UTR NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 430 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCATCGAGGGGCCCCCCAGG 0.682000 12 15 0 0 0.000308642 0 0 NPAP1 23742 broad.mit.edu 37 15 24923711 24923711 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:24923711C>T ENST00000329468.2 + 1 3171 c.2697C>T c.(2695-2697)tcC>tcT p.S899S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCTCTCATTCCACACTTGGGG 0.498000 61 23 0 0 0.000147903 0 0 GALNT15 117248 broad.mit.edu 37 3 16264263 16264263 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:16264263G>A ENST00000339732.5 + 9 2274 c.1771G>A c.(1771-1773)Gag>Aag p.E591K GALNT15_ENST00000437509.1_Missense_Mutation_p.E591K NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GGACTTCCAGGAGGTGAGTAA 0.557000 24 6 0 0 0.000375601 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 71 0 0 3.59834e-05 0 0 SIRPB2 284759 broad.mit.edu 37 20 1457799 1457799 + Missense_Mutation SNP A A T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:1457799A>T ENST00000537284.1 - 5 965 c.629T>A c.(628-630)cTa>cAa p.L210Q SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 agttcgttatagctgagctgT 0.493000 4 4 0 0 0.00024832 0 0 IPO4 79711 broad.mit.edu 37 14 24655957 24655957 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:24655957C>T ENST00000354464.6 - 9 973 c.797G>A c.(796-798)cGt>cAt p.R266H RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 266 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GCAGAGAATACGTATGCGTAT 0.502000 18 34 0 0 0.000175454 0 0 ZNF407 55628 broad.mit.edu 37 18 72346087 72346087 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:72346087C>T ENST00000299687.5 + 1 3112 c.3112C>T c.(3112-3114)Cgg>Tgg p.R1038W ZNF407_ENST00000582337.1_Missense_Mutation_p.R1038W|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1038W|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1038W NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCATGTAAAACGGAAACATAC 0.463000 57 18 0 0 0.000147903 0 0 CACNB2 783 broad.mit.edu 37 10 18828608 18828608 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:18828608G>A ENST00000396576.2 + 13 2274 c.1773G>A c.(1771-1773)cgG>cgA p.R591R CACNB2_ENST00000377315.4_Silent_p.R598R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Silent_p.R592R|CACNB2_ENST00000282343.8_Silent_p.R618R|CACNB2_ENST00000377331.2_Silent_p.R594R|CACNB2_ENST00000352115.6_Silent_p.R622R|CACNB2_ENST00000377328.1_Silent_p.R396R|CACNB2_ENST00000324631.7_Silent_p.R646R|CACNB2_ENST00000377319.3_Silent_p.R553R NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 646 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAAAAAAACGGAATGAGGCTG 0.423000 25 40 0 0 0.000279167 0 0 PITRM1 10531 broad.mit.edu 37 10 3181112 3181112 + Silent SNP G G C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:3181112G>C ENST00000380989.2 - 25 2942 c.2904C>G c.(2902-2904)gtC>gtG p.V968V PITRM1_ENST00000224949.4_Silent_p.V967V|PITRM1_ENST00000451104.2_Silent_p.V869V|PITRM1_ENST00000380994.1_Silent_p.V525V|PITRM1_ENST00000464395.1_5'UTR NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 869 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 CTGAAGGAGCGACAGGAGCAT 0.483000 85 132 0 0 0.000147903 0 0 FAM47A 158724 broad.mit.edu 37 X 34150007 34150007 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:34150007G>A ENST00000346193.3 - 1 440 c.389C>T c.(388-390)cCc>cTc p.P130L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 130 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CATGGCCAAGGGATGCTTGGC 0.557000 43 18 0 0 0.000589545 0 0 FBXL13 222235 broad.mit.edu 37 7 102518846 102518846 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:102518846C>T ENST00000393772.2 - 15 1866 c.1440G>A c.(1438-1440)agG>agA p.R480R FBXL13_ENST00000455112.2_Silent_p.R480R|FBXL13_ENST00000379305.3_Silent_p.R480R|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Silent_p.R480R|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Silent_p.R480R|FBXL13_ENST00000379308.3_Silent_p.R480R Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 480 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GCTCTCTTATCCTCATGCTTG 0.348000 36 46 0 0 0.000509022 0 0 PITX2 5308 broad.mit.edu 37 4 111542323 111542323 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:111542323G>A ENST00000354925.2 - 6 2092 c.387C>T c.(385-387)gtC>gtT p.V129V PITX2_ENST00000557119.2_Silent_p.V136V|PITX2_ENST00000394598.2_Silent_p.V129V|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Silent_p.V136V|PITX2_ENST00000355080.5_Silent_p.V83V NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 129 Missing (in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity).|V -> L (in RIEG1; more than 200% increase in transactivation activity). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTCCTACCCGGACTCGGGCTT 0.612000 16 21 0 0 0.000422831 0 0 NOS3 4846 broad.mit.edu 37 7 150707703 150707703 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:150707703G>A ENST00000297494.3 + 22 3061 c.2704G>A c.(2704-2706)Gag>Aag p.E902K NOS3_ENST00000477227.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.E696K NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 902 FAD-binding FR-type. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) ACGCTACGAGGAGTGGAAGTG 0.667000 4 8 0 0 1.23904e-05 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986931 7986931 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:7986931C>T ENST00000221573.6 + 4 435 c.384C>T c.(382-384)atC>atT p.I128I SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 128 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TGCTCACCATCGCGGCCACGG 0.627000 63 97 0 0 0.000147903 0 0 NRXN3 9369 broad.mit.edu 37 14 79270122 79270122 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:79270122G>A ENST00000554719.1 + 6 1576 c.1085G>A c.(1084-1086)cGt>cAt p.R362H NRXN3_ENST00000335750.5_Missense_Mutation_p.R362H NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 140 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) GACACCCTGCGTCTGGAGCTG 0.552000 29 42 0 0 0.000184323 0 0 SLC22A10 387775 broad.mit.edu 37 11 63071674 63071674 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:63071674C>T ENST00000544661.1 + 9 1204 c.776C>T c.(775-777)tCc>tTc p.S259F SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000332793.6_Silent_p.I460I|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 0 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTGAACTCATCCCCACTGTTC 0.458000 45 71 0 0 0.000589545 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064049 6064049 + Missense_Mutation SNP C C A rs146441068 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:6064049C>A ENST00000409021.3 - 10 1999 c.1550G>T c.(1549-1551)aGg>aTg p.R517M JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R517M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R352M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R517M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R332M NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 517 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCGGGCCTCCCTCTCAGCGTC 0.667000 31 63 3.03874e-20 9.99634e-19 0.00058488 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434151 72434151 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:72434151C>T ENST00000373517.3 - 1 533 c.178G>A c.(178-180)Gaa>Aaa p.E60K NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 60 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCACCGTTTTCCCCTTCTTCC 0.582000 32 6 0 0 0.000279167 0 0 KIF21B 23046 broad.mit.edu 37 1 200969662 200969662 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:200969662G>A ENST00000332129.2 - 11 1857 c.1541C>T c.(1540-1542)cCc>cTc p.P514L KIF21B_ENST00000422435.2_Missense_Mutation_p.P514L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P514L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P514L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 514 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CAGGGAGTAGGGGCTCCTAGC 0.662000 28 33 0 0 0.000184323 0 0 AGAP1 116987 broad.mit.edu 37 2 236715898 236715898 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:236715898G>A ENST00000409538.1 + 9 2264 c.1768G>A c.(1768-1770)Gac>Aac p.D590N AGAP1_ENST00000409457.1_Missense_Mutation_p.D325N|AGAP1_ENST00000428334.2_Missense_Mutation_p.D164N|AGAP1_ENST00000304032.7_Missense_Mutation_p.D325N|AGAP1_ENST00000336665.5_Missense_Mutation_p.D325N Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 325 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GAAAGGGAGCGACCCAGACAA 0.567000 57 13 0 0 0.000147903 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318660 21318660 + Silent SNP C C T rs148939916 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21318660C>T ENST00000583088.1 + 3 901 c.6C>T c.(4-6)acC>acT p.T2T KCNJ12_ENST00000331718.5_Silent_p.T2T NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CCGGGATGACCGCGGCCAGCC 0.697000 Prostate(3;0.18) 9 23 0 0 0.000274275 0 0 NOX1 27035 broad.mit.edu 37 X 100105231 100105231 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:100105231C>T ENST00000372966.3 - 9 1247 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E311K|NOX1_ENST00000217885.5_Missense_Mutation_p.E348K NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 348 FAD-binding FR-type. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 AAGAAATCTTCCTCTGGAGCA 0.468000 36 7 0 0 0.000191422 0 0 PSMC2 5701 broad.mit.edu 37 7 103008169 103008169 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:103008169C>T ENST00000435765.1 + 12 1468 c.1057C>T c.(1057-1059)Cac>Tac p.H353Y SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.H216Y|PSMC2_ENST00000292644.3_Missense_Mutation_p.H353Y NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 353 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 GGGTCGGACCCACATATTTAA 0.333000 31 46 0 0 0.000279167 0 0 CD53 963 broad.mit.edu 37 1 111437611 111437611 + Silent SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:111437611C>A ENST00000271324.5 + 5 469 c.357C>A c.(355-357)acC>acA p.T119T CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_3'UTR NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 119 signal transduction integral to membrane|plasma membrane p.T119T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) AGGGTCTGACCGACAGCATCC 0.507000 36 66 1.67305e-13 5.37267e-12 0.000228196 1 0 SNHG14 104472715 broad.mit.edu 37 15 25304834 25304834 + RNA SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:25304834C>T ENST00000549804.2 + 0 227 TCCACTAGTCCCTATAGGTTC 0.522000 16 6 0 0 0.000308642 0 0 OR51V1 283111 broad.mit.edu 37 11 5221880 5221880 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:5221880C>T ENST00000321255.1 - 1 50 c.51G>A c.(49-51)acG>acA p.T17T NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T17T(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGAATTCGTGCTGGTGC 0.428000 27 34 0 0 9.22233e-05 0 0 LRRN2 10446 broad.mit.edu 37 1 204588913 204588913 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:204588913C>T ENST00000367175.1 - 1 2420 c.208G>A c.(208-210)Ggc>Agc p.G70S LRRN2_ENST00000367177.3_Missense_Mutation_p.G70S|LRRN2_ENST00000367176.3_Missense_Mutation_p.G70S O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 70 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTCTGTGTGCCTGCGGGGAGT 0.627000 36 52 0 0 0.000191422 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764565 138764565 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:138764565C>T ENST00000242351.5 - 4 1438 c.1122G>A c.(1120-1122)aaG>aaA p.K374K ZC3HAV1_ENST00000464606.1_Silent_p.K374K|ZC3HAV1_ENST00000471652.1_Silent_p.K374K NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 374 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 AAAACACAGTCTTTCTCCTGG 0.542000 53 67 0 0 0.000147903 0 0 MMP2 4313 broad.mit.edu 37 16 55522457 55522457 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:55522457C>T ENST00000219070.4 + 6 1344 c.835C>T c.(835-837)Ctg>Ttg p.L279L MMP2_ENST00000543485.1_Silent_p.L203L|MMP2_ENST00000570308.1_Silent_p.L203L|MMP2_ENST00000437642.2_Silent_p.L229L NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 279 Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) ACCCTTAGCCCTGTTCACCAT 0.602000 8 12 0 0 0.000274275 0 0 OR2L3 391192 broad.mit.edu 37 1 248224777 248224777 + Missense_Mutation SNP G G A rs148776094 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:248224777G>A ENST00000359959.3 + 1 794 c.794G>A c.(793-795)cGa>cAa p.R265Q OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265Q(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGATCCCTGCGATCTCCAACA 0.507000 33 77 0 0 0.000159656 0 0 ZNF408 79797 broad.mit.edu 37 11 46726807 46726807 + Silent SNP C C A rs148867575 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:46726807C>A ENST00000311764.2 + 5 1787 c.1557C>A c.(1555-1557)acC>acA p.T519T NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCTCCACACCGGGGAGCGTC 0.637000 36 33 2.28855e-06 7.22029e-05 0.000132358 1 0 MUC5B 727897 broad.mit.edu 37 11 1273675 1273675 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:1273675C>T ENST00000447027.1 + 32 15033 c.14975C>T c.(14974-14976)tCc>tTc p.S4992F MUC5B_ENST00000529681.1_Missense_Mutation_p.S4989F Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4989 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGTCCCACCTCCCCACCGCCA 0.652000 28 21 0 0 9.22233e-05 0 0 RPL8 6132 broad.mit.edu 37 8 146017189 146017189 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:146017189G>A ENST00000262584.3 - 3 481 c.249C>T c.(247-249)caC>caT p.H83H RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000394920.2_Silent_p.H83H|RPL8_ENST00000528957.1_Silent_p.H83H NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 83 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) ACTGGCCCGTGTGAATGCCCT 0.637000 103 55 0 0 0.000147903 0 0 GK2 2712 broad.mit.edu 37 4 80328222 80328222 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:80328222C>T ENST00000358842.3 - 1 1150 c.1133G>A c.(1132-1134)gGg>gAg p.G378E NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 378 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 ACAGAGTATCCCTCTTGCACT 0.423000 38 55 0 0 0.000228196 0 0 MANSC1 54682 broad.mit.edu 37 12 12496107 12496107 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:12496107C>T ENST00000535902.1 - 2 705 c.142G>A c.(142-144)Gga>Aga p.G48R MANSC1_ENST00000396349.3_Splice_Site_p.G14_splice Q9H8J5 MANS1_HUMAN MANSC domain containing 1 48 MANSC. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CCTCTGATTCCCTTAGAAAGA 0.383000 39 65 0 0 0.000191422 0 0 GALNT1 2589 broad.mit.edu 37 18 33257586 33257586 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:33257586C>T ENST00000269195.5 + 3 449 c.346C>T c.(346-348)Cct>Tct p.P116S GALNT1_ENST00000537549.1_Missense_Mutation_p.P56S NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 116 Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 AGATAATCTTCCTACAACAAG 0.388000 48 20 0 0 0.000147903 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213851 42213851 + Missense_Mutation SNP C C T rs150911810 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:42213851C>T ENST00000221992.6 + 2 431 c.317C>T c.(316-318)tCc>tTc p.S106F CEA_ENST00000598976.1_Missense_Mutation_p.S106F|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S106F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S106F NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 106 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCAATGCATCCCTGCTGATC 0.468000 74 95 0 0 0.000147903 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390507 61390507 + RNA SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:61390507G>A ENST00000544088.1 + 0 1115 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAGCCACTGGGGACAGCATCG 0.498000 35 6 0 0 0.00058488 0 0 CENPE 1062 broad.mit.edu 37 4 104063010 104063010 + Missense_Mutation SNP T T C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:104063010T>C ENST00000265148.3 - 35 5449 c.5360A>G c.(5359-5361)cAg>cGg p.Q1787R CENPE_ENST00000380026.3_Missense_Mutation_p.Q1762R NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1787 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AATAGTTTCCTGCTGCTCTTT 0.299000 31 27 0 0 0.000109025 0 0 IQGAP1 8826 broad.mit.edu 37 15 90984786 90984786 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:90984786C>T ENST00000268182.5 + 8 822 c.698C>T c.(697-699)cCa>cTa p.P233L IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 233 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGTAGAATTCCAGCCGACACA 0.363000 35 32 0 0 0.000132358 0 0 PSEN2 5664 broad.mit.edu 37 1 227083261 227083261 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:227083261C>T ENST00000366782.1 + 13 1927 c.1427C>T c.(1426-1428)tCc>tTc p.S476F PSEN2_ENST00000366783.3_Missense_Mutation_p.S443F|PSEN2_ENST00000472139.2_Missense_Mutation_p.S299F|PSEN2_ENST00000340188.4_Missense_Mutation_p.S410F|PSEN2_ENST00000422240.2_Missense_Mutation_p.S442F|PSEN2_ENST00000391872.2_Missense_Mutation_p.S476F P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 443 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) ACCCTGGCCTCCCATCAGCTC 0.542000 12 11 0 0 6.40141e-05 0 0 TRPC4 7223 broad.mit.edu 37 13 38237678 38237678 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:38237678G>A ENST00000379705.3 - 6 2420 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TRPC4_ENST00000358477.2_Silent_p.F521F|TRPC4_ENST00000447043.1_Silent_p.F521F|TRPC4_ENST00000379673.2_Silent_p.F521F|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Silent_p.F521F|TRPC4_ENST00000379679.1_Silent_p.F348F|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Silent_p.F348F|TRPC4_ENST00000355779.2_Silent_p.F521F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 521 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCAGTATATGAATAGAAACT 0.403000 18 39 0 0 0.000132079 0 0 COL4A2 1284 broad.mit.edu 37 13 111147731 111147731 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:111147731G>A ENST00000360467.5 + 40 3983 c.3677G>A c.(3676-3678)gGg>gAg p.G1226E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1226 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGCCCTCCTGGGGAAAGAGGT 0.567000 29 51 0 0 0.000117367 0 0 CFI 3426 broad.mit.edu 37 4 110662164 110662164 + Missense_Mutation SNP C C A rs121964915 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:110662164C>A ENST00000394634.2 - 13 1844 c.1637G>T c.(1636-1638)tGg>tTg p.W546L CFI_ENST00000512148.1_Missense_Mutation_p.W539L|CFI_ENST00000394635.3_Missense_Mutation_p.W554L NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 546 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GTTTTCCCCCCAACTCACAAC 0.458000 120 172 7.61515e-48 2.56773e-46 0.000147903 1 0 GCK 2645 broad.mit.edu 37 7 44189377 44189377 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:44189377C>T ENST00000403799.3 - 6 1130 c.661G>A c.(661-663)Gag>Aag p.E221K GCK_ENST00000395796.3_Missense_Mutation_p.E220K|GCK_ENST00000437084.1_Missense_Mutation_p.E204K|GCK_ENST00000345378.2_Missense_Mutation_p.E222K NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 221 E -> K (in MODY2). cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 ATGCCGACCTCGCACTGATGG 0.567000 141 239 0 0 0.000147903 0 0 LRRC28 123355 broad.mit.edu 37 15 99828120 99828120 + Nonsense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:99828120C>T ENST00000301981.3 + 5 589 c.349C>T c.(349-351)Cga>Tga p.R117* LRRC28_ENST00000442993.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.R117*|LRRC28_ENST00000558879.1_Intron NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 117 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) ACGTCATCTTCGATTAGCTAA 0.373000 33 60 0 0 0.00058488 0 0 HIF3A 64344 broad.mit.edu 37 19 46823707 46823707 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:46823707G>A ENST00000339613.2 + 9 1120 c.865G>A c.(865-867)Gaa>Aaa p.E289K HIF3A_ENST00000300862.3_Missense_Mutation_p.E343K|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.E276K|HIF3A_ENST00000420102.2_Missense_Mutation_p.E294K|HIF3A_ENST00000472815.1_Missense_Mutation_p.E276K|HIF3A_ENST00000600383.1_Missense_Mutation_p.E276K|HIF3A_ENST00000377670.4_Missense_Mutation_p.E345K Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 345 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CAGCCAGGTGGAAGAGACCGG 0.607000 31 53 0 0 0.000109025 0 0 CHMP4C 92421 broad.mit.edu 37 8 82645023 82645023 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:82645023C>T ENST00000297265.4 + 1 355 c.162C>T c.(160-162)gcC>gcT p.A54A NM_152284.3 NP_689497.1 Q96CF2 CHM4C_HUMAN charged multivesicular body protein 4C 54 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TCGCCCTGGCCAAGAAGCACG 0.602000 13 14 0 0 0.000219431 0 0 SALL4 57167 broad.mit.edu 37 20 50406909 50406909 + Missense_Mutation SNP A A T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:50406909A>T ENST00000217086.4 - 2 2224 c.2113T>A c.(2113-2115)Tcc>Acc p.S705T SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 705 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCTTGGAGGAGCTGCTGGGA 0.597000 18 31 0 0 0.000175454 0 0 PTEN 5728 broad.mit.edu 37 10 89692922 89692922 + Missense_Mutation SNP T T C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:89692922T>C ENST00000371953.3 + 5 1763 c.406T>C c.(406-408)Tgt>Cgt p.C136R NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 136 Phosphatase tensin-type. C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTAATGATATGTGCATATTT 0.388000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 40 13 0 0 0.000270559 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 20 51 0 0 0.000132079 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668443 71668443 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:71668443G>A ENST00000268485.3 + 3 987 c.943G>A c.(943-945)Ggg>Agg p.G315R MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 315 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GCTCATCGCGGGGGGGTACAT 0.582000 21 29 0 0 0.000295444 0 0 ABCB1 5243 broad.mit.edu 37 7 87144604 87144604 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:87144604C>T ENST00000265724.3 - 26 3642 c.3225G>A c.(3223-3225)ggG>ggA p.G1075G ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.G1011G NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1075 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTGTGCTCTTCCCACAGCCAC 0.572000 18 40 0 0 0.000566183 0 0 HYDIN 54768 broad.mit.edu 37 16 70891730 70891730 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:70891730G>A ENST00000393567.2 - 72 12323 c.12173C>T c.(12172-12174)tCa>tTa p.S4058L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4058 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGTCCATGATGACTCAGTGAT 0.463000 5 42 0 0 3.86212e-05 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995638 140995638 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:140995638C>T ENST00000285879.4 + 4 2734 c.2448C>T c.(2446-2448)tcC>tcT p.S816S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 816 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAGCTCCTTCCCCTCCT 0.552000 HNSCC(15;0.026) 128 34 0 0 0.000147903 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501747 140501747 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140501747G>A ENST00000194152.1 + 1 167 c.167G>A c.(166-168)gGg>gAg p.G56E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 56 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGGAATTGGGGAACTGGCC 0.557000 18 9 0 0 0.000175454 0 0 LRBA 987 broad.mit.edu 37 4 151850033 151850033 + Missense_Mutation SNP A A G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:151850033A>G ENST00000535741.1 - 3 874 c.401T>C c.(400-402)gTt>gCt p.V134A LRBA_ENST00000507224.1_Missense_Mutation_p.V134A|LRBA_ENST00000510413.1_Missense_Mutation_p.V134A|LRBA_ENST00000357115.3_Missense_Mutation_p.V134A P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 134 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CACTTTTTCAACAAGGCCTAC 0.348000 32 71 0 0 0.000132358 0 0 VWA7 80737 broad.mit.edu 37 6 31744326 31744326 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31744326G>A ENST00000375686.3 - 2 468 c.231C>T c.(229-231)ttC>ttT p.F77F VWA7_ENST00000375688.4_Silent_p.F77F|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.F77F NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 77 extracellular region TGCTCACCAGGAAGTCCTCAA 0.622000 107 103 0 0 0.000147903 0 0 UNC5D 137970 broad.mit.edu 37 8 35647892 35647892 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:35647892C>T ENST00000287272.2 + 16 2486 c.2466C>T c.(2464-2466)ttC>ttT p.F822F UNC5D_ENST00000416672.1_Silent_p.F896F|UNC5D_ENST00000420357.1_Silent_p.F824F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000404895.2_Silent_p.F891F|UNC5D_ENST00000453357.2_Silent_p.F886F Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 891 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TATCTTATTTCGCTACACAAA 0.393000 41 55 0 0 0.000509022 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066862 46066862 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:46066862G>A ENST00000334670.8 + 1 532 c.487G>A c.(487-489)Gag>Aag p.E163K TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 157 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CACCTGCTCTGAGGATTCCTC 0.627000 65 92 0 0 0.000147903 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850212 14850212 + Splice_Site SNP G G T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:14850212G>T ENST00000358984.4 + 35 3218 c.e35-1 NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TTTAATGGCAGATTGACTTTA 0.269000 5 1 3.59834e-05 0.00112866 3.59834e-05 1 0 COLGALT1 79709 broad.mit.edu 37 19 17678331 17678331 + Missense_Mutation SNP G G C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:17678331G>C ENST00000252599.4 + 4 726 c.606G>C c.(604-606)tgG>tgC p.W202C COLGALT1_ENST00000601354.1_3'UTR NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CCAACTTCTGGTGTGGAATGA 0.592000 5 19 0 0 3.59834e-05 0 0 CORO1A 11151 broad.mit.edu 37 16 30199304 30199304 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:30199304C>T ENST00000219150.5 + 8 1208 c.903C>T c.(901-903)gcC>gcT p.A301A CORO1A_ENST00000565497.1_Silent_p.A301A|CORO1A_ENST00000570045.1_Silent_p.A301A NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 301 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 CTTCCGAGGCCCCTTTCCTGC 0.587000 39 62 0 0 0.000319135 0 0 NHSL2 340527 broad.mit.edu 37 X 71358756 71358756 + Missense_Mutation SNP G G A rs138787811 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:71358756G>A ENST00000373677.1 + 2 1522 c.260G>A c.(259-261)gGg>gAg p.G87E NHSL2_ENST00000535692.1_Missense_Mutation_p.G87E|NHSL2_ENST00000540800.1_Missense_Mutation_p.G453E|NHSL2_ENST00000510661.1_Missense_Mutation_p.G222E F5H593 F5H593_HUMAN NHS-like 2 453 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GGATGCAGTGGGTCAGCTGGC 0.557000 13 3 0 0 0.00010058 0 0 TMEM225 338661 broad.mit.edu 37 11 123755980 123755980 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:123755980C>T ENST00000375026.2 - 1 369 c.153G>A c.(151-153)atG>atA p.M51I NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 51 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GGCAACACATCATCCAAGGAC 0.458000 26 57 0 0 0.000586117 0 0 TTC17 55761 broad.mit.edu 37 11 43471746 43471746 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:43471746C>T ENST00000039989.4 + 20 2915 c.2901C>T c.(2899-2901)tcC>tcT p.S967S NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 967 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATGGGGTTTCCAACCGAGCCA 0.517000 13 39 0 0 0.000219431 0 0 GYS1 2997 broad.mit.edu 37 19 49477944 49477944 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:49477944G>A ENST00000323798.3 - 11 1551 c.1355C>T c.(1354-1356)tCc>tTc p.S452F GYS1_ENST00000544287.1_Missense_Mutation_p.S85F|GYS1_ENST00000541188.1_Missense_Mutation_p.S372F|GYS1_ENST00000263276.6_Missense_Mutation_p.S388F|GYS1_ENST00000540532.1_3'UTR NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 452 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GGGGTCTGAGGAGTCATCCAG 0.587000 24 41 0 0 0.000117367 0 0 ZNF488 118738 broad.mit.edu 37 10 48370853 48370853 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:48370853G>A ENST00000494156.1 + 3 365 c.215G>A c.(214-216)gGa>gAa p.G72E ZNF488_ENST00000586537.1_De_novo_Start_InFrame|ZNF488_ENST00000395702.2_Silent_p.R107R NM_153034.2 NP_694579.1 Q96MN9 ZN488_HUMAN zinc finger protein 488 0 A -> V (in dbSNP:rs35618062). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGCTGCCGAGGATGAAGGACC 0.662000 12 2 0 0 6.40141e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 40980729 40980729 + Missense_Mutation SNP A A T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:40980729A>T ENST00000373198.3 - 10 1992 c.1757T>A c.(1756-1758)aTt>aAt p.I586N PTPRT_ENST00000373187.1_Missense_Mutation_p.I586N|PTPRT_ENST00000356100.2_Missense_Mutation_p.I586N|PTPRT_ENST00000373201.1_Missense_Mutation_p.I586N|PTPRT_ENST00000373184.1_Missense_Mutation_p.I586N|PTPRT_ENST00000373193.3_Missense_Mutation_p.I586N|PTPRT_ENST00000373190.1_Missense_Mutation_p.I586N NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 586 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GATACCTGAAATTTTGGTGGC 0.473000 34 49 0 0 0.00058488 0 0 CRISP2 7180 broad.mit.edu 37 6 49665657 49665657 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:49665657G>A ENST00000339139.4 - 8 667 c.431C>T c.(430-432)tCg>tTg p.S144L NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 144 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTGGTAAGTCGAGTACCAAAC 0.313000 38 62 0 0 0.000374591 0 0 ZNF418 147686 broad.mit.edu 37 19 58437712 58437712 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:58437712G>A ENST00000396147.1 - 4 2128 c.1837C>T c.(1837-1839)Cat>Tat p.H613Y ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H528Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.H634Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H613Y NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H613N(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCTCGAGTATGAAGTCTCTGA 0.453000 39 62 0 0 0.000191422 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719558 162719558 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:162719558C>T ENST00000375514.5 + 7 1072 c.785C>T c.(784-786)tCc>tTc p.S262F SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S251F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S251F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S251F|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S251F|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S251F NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 251 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAACCAAATTCCATGGACAAA 0.338000 31 12 0 0 0.000339439 0 0 ABCC5 10057 broad.mit.edu 37 3 183679345 183679345 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:183679345G>A ENST00000334444.6 - 16 2573 c.2333C>T c.(2332-2334)gCt>gTt p.A778V ABCC5_ENST00000265586.6_Missense_Mutation_p.A778V NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 778 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAAAATGGTAGCATAGTCACC 0.458000 27 44 0 0 0.000586117 0 0 COL1A1 1277 broad.mit.edu 37 17 48263002 48263002 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:48263002G>A ENST00000225964.5 - 51 4374 c.4256C>T c.(4255-4257)aCc>aTc p.T1419I NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1419 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCAGGCTCCGGTGTGACTCTG 0.617000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 26 23 0 0 9.22233e-05 0 0 PCSK5 5125 broad.mit.edu 37 9 78938053 78938053 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr9:78938053C>T ENST00000545128.1 + 31 4645 c.4107C>T c.(4105-4107)gtC>gtT p.V1369V NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 634 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCCACTGTGTCCCCTGCCATA 0.572000 13 2 0 0 0.000151284 0 0 UBBP4 23666 broad.mit.edu 37 17 21731529 21731529 + Silent SNP T T C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21731529T>C ENST00000578713.1 + 2 608 c.604T>C c.(604-606)Ttg>Ctg p.L202L UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGGCAAGAAGTTGGAAGATGG 0.542000 20 22 0 0 0.000229342 0 0 PARP4 143 broad.mit.edu 37 13 25044068 25044068 + Silent SNP G G A rs146166448 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:25044068G>A ENST00000381989.3 - 16 2115 c.2010C>T c.(2008-2010)ttC>ttT p.F670F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 670 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TGAAGGCTTCGAAGCCACACA 0.458000 23 27 0 0 0.000184323 0 0 EPPK1 83481 broad.mit.edu 37 8 144940332 144940332 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:144940332G>A ENST00000525985.1 - 2 7161 c.7090C>T c.(7090-7092)Cgg>Tgg p.R2364W P58107 EPIPL_HUMAN epiplakin 1 2364 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TAGCCGCGCCGGTAGGCCACG 0.692000 19 564 0 0 9.22233e-05 0 0 ATP11A 23250 broad.mit.edu 37 13 113508685 113508685 + Missense_Mutation SNP C C T rs139917817 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:113508685C>T ENST00000487903.1 + 19 2172 c.2084C>T c.(2083-2085)gCg>gTg p.A695V ATP11A_ENST00000375645.3_Missense_Mutation_p.A695V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A695V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A695V P98196 AT11A_HUMAN ATPase, class VI, type 11A 695 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GAGACGGCCGCGGCCACGTGC 0.622000 6 43 0 0 3.59834e-05 0 0 ATP9A 10079 broad.mit.edu 37 20 50286611 50286611 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:50286611G>A ENST00000338821.5 - 13 1482 c.1218C>T c.(1216-1218)ctC>ctT p.L406L ATP9A_ENST00000402822.1_Silent_p.L285L|ATP9A_ENST00000311637.5_Silent_p.L270L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 406 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCCGAGATGGAGCCGTTTGA 0.453000 41 67 0 0 0.000509022 0 0 PRMT8 56341 broad.mit.edu 37 12 3600829 3600829 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:3600829G>A ENST00000382622.3 + 1 428 c.38G>A c.(37-39)aGg>aAg p.R13K PRMT8_ENST00000452611.2_Intron NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 13 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTGCTCCTGAGGAGGAAAATG 0.647000 16 28 0 0 7.07596e-05 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282557 69282557 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:69282557G>A ENST00000338352.2 + 1 217 c.183G>A c.(181-183)caG>caA p.Q61Q NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 61 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AGCACCGGCAGGAGCTGGAGA 0.557000 9 5 0 0 3.86212e-05 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296431 39296431 + Silent SNP A A G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:39296431A>G ENST00000345847.4 - 1 308 c.309T>C c.(307-309)acT>acC p.T103T NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 99 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GACGGCAGCAAGTGGGCTGGC 0.652000 4 56 0 0 3.59834e-05 0 0 PEAR1 375033 broad.mit.edu 37 1 156873722 156873722 + Missense_Mutation SNP T T A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:156873722T>A ENST00000338302.3 + 3 229 c.4T>A c.(4-6)Tca>Aca p.S2T PEAR1_ENST00000292357.7_Missense_Mutation_p.S2T Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 2 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTGCAATGTCACCGCCTCT 0.637000 49 80 0 0 0.000147903 0 0 OR5K3 403277 broad.mit.edu 37 3 98110314 98110314 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:98110314G>A ENST00000383695.1 + 1 805 c.805G>A c.(805-807)Gat>Aat p.D269N RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 AGGGGATAAAGATATACCTGT 0.299000 25 5 0 0 0.000375601 0 0 ZNF215 7762 broad.mit.edu 37 11 6953610 6953610 + Missense_Mutation SNP A A G rs11041107 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:6953610A>G ENST00000278319.5 + 3 695 c.107A>G c.(106-108)aAc>aGc p.N36S ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.N36S|ZNF215_ENST00000529903.1_Missense_Mutation_p.N36S NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 36 N -> S (in dbSNP:rs11041107). viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAGGAAACCAACCCCGTCGTG 0.493000 29 67 0 0 0.000184323 0 0 GBP6 163351 broad.mit.edu 37 1 89846141 89846141 + Silent SNP T T G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:89846141T>G ENST00000370456.4 + 6 915 c.822T>G c.(820-822)acT>acG p.T274T GBP6_ENST00000535065.1_Silent_p.T144T NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 274 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ACATCTTCACTCATGCAAGAA 0.418000 20 14 0 0 0.000175454 0 0 CYP4F3 4051 broad.mit.edu 37 19 15757879 15757879 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:15757879G>A ENST00000221307.7 + 4 409 c.361G>A c.(361-363)Gac>Aac p.D121N CYP4F3_ENST00000591058.1_Missense_Mutation_p.D121N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D121N|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D121N NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 121 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGTACCAAAGGACAAGGTCTT 0.577000 36 41 0 0 0.000319135 0 0 CXorf22 170063 broad.mit.edu 37 X 35985897 35985897 + Missense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:35985897C>T ENST00000297866.5 + 10 1828 c.1762C>T c.(1762-1764)Ccc>Tcc p.P588S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 588 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 ATTAGCCTTTCCCAATGACCG 0.403000 13 4 0 0 0.000422831 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992777 66992777 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:66992777G>A ENST00000276570.5 + 5 786 c.499G>A c.(499-501)Gaa>Aaa p.E167K DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 167 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GTCTGACATGGAAAAAGGTGG 0.542000 4 10 0 0 1.23904e-05 0 0 KDR 3791 broad.mit.edu 37 4 55956162 55956162 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:55956162C>T ENST00000263923.4 - 23 3448 c.3153G>A c.(3151-3153)cgG>cgA p.R1051R RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1051 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TATAAATATCCCGGGCCAAGC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 38 49 0 0 0.000132358 0 0 GRM1 2911 broad.mit.edu 37 6 146625858 146625858 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:146625858C>T ENST00000392299.2 + 4 1532 c.1062C>T c.(1060-1062)ttC>ttT p.F354F GRM1_ENST00000507907.1_Silent_p.F354F|GRM1_ENST00000355289.4_Silent_p.F354F|GRM1_ENST00000492807.2_Silent_p.F354F|GRM1_ENST00000361719.2_Silent_p.F354F|GRM1_ENST00000282753.1_Silent_p.F354F Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 354 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATGATTATTTCCTGAAACTGA 0.498000 30 12 0 0 0.000227799 0 0 LRFN1 57622 broad.mit.edu 37 19 39805548 39805548 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:39805548G>A ENST00000248668.4 - 1 428 c.429C>T c.(427-429)atC>atT p.I143I CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 143 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTTTCCAAGGATCAGGTGGC 0.687000 7 11 0 0 8.12818e-05 0 0 CRYM 1428 broad.mit.edu 37 16 21273402 21273402 + Missense_Mutation SNP G G T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:21273402G>T ENST00000219599.3 - 8 1016 c.751C>A c.(751-753)Cag>Aag p.Q251K CRYM_ENST00000396023.2_Missense_Mutation_p.Q251K|CRYM_ENST00000415987.2_Missense_Mutation_p.Q209K|CRYM_ENST00000543948.1_Missense_Mutation_p.Q251K NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 251 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) GCAGCCTCCTGGGAATCCACG 0.577000 23 28 6.21321e-17 2.03153e-15 0.000375601 1 0 MUC16 94025 broad.mit.edu 37 19 9074565 9074565 + Missense_Mutation SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:9074565G>A ENST00000397910.4 - 3 13084 c.12881C>T c.(12880-12882)tCc>tTc p.S4294F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4296 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGTCTCGGAGGAGCCAAA 0.527000 23 31 0 0 0.000375601 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501748 140501748 + Silent SNP G G A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140501748G>A ENST00000194152.1 + 1 168 c.168G>A c.(166-168)ggG>ggA p.G56G NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 56 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGGAATTGGGGAACTGGCCT 0.562000 18 9 0 0 0.000175454 0 0 NCAPD2 9918 broad.mit.edu 37 12 6636085 6636085 + Silent SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:6636085C>T ENST00000315579.5 + 22 3562 c.2763C>T c.(2761-2763)ttC>ttT p.F921F NCAPD2_ENST00000545962.1_Silent_p.F876F|NCAPD2_ENST00000542492.1_3'UTR NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 921 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TCCCCACTTTCCTGTTGATGA 0.572000 44 63 0 0 0.000589545 0 0 SERPINA3 12 broad.mit.edu 37 14 95088748 95088748 + Nonsense_Mutation SNP C C T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:95088748C>T ENST00000553947.1 + 7 1951 c.1063C>T c.(1063-1065)Cag>Tag p.Q355* SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.Q330*|SERPINA3_ENST00000482740.1_Nonsense_Mutation_p.Q112* P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 330 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CATACTTCTCCAGCTGGGCAT 0.488000 27 42 0 0 0.000227799 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 8 11 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 7 113 --- --- --- --- VRK2 7444 broad.mit.edu 37 2 58312026 58312026 + Frame_Shift_Del DEL A A - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:58312026delA ENST00000435505.2 + 7 942 c.197delA c.(196-198)gafs p.E66fs VRK2_ENST00000340157.4_Frame_Shift_Del_p.E66fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.E66fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.E66fs|VRK2_ENST00000440705.2_Frame_Shift_Del_p.E43fs Q86Y07 VRK2_HUMAN vaccinia related kinase 2 66 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 GAATATCAAGAAAATGGCCCG 0.259 2 4 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 4 7 --- --- --- --- HEATR5A 25938 broad.mit.edu 37 14 31852869 31852869 + Frame_Shift_Del DEL G G - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:31852869delG ENST00000543095.2 - 10 1638 c.1454delC c.(1453-1455)aafs p.T485fs HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.T192fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.T485fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.T479fs|HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.T479fs NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 479 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAAGAGTGGTGTTAGGTAGGA 0.473 77 120 --- --- --- --- PNN 5411 broad.mit.edu 37 14 39646845 39646866 + Frame_Shift_Del DEL AGAGACCTTATCCAGGATCAAA AGAGACCTTATCCAGGATCAAA - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:39646845_39646866delAGAGACCTTATCCAGGATCAAA ENST00000216832.4 + 5 443_464 c.376_397delAGAGACCTTATCCAGGATCAAA c.(376-399)atfs p.RDLIQDQN126fs PNN_ENST00000556530.1_3'UTR|PNN_ENST00000553331.1_Intron NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 126 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GCGCACACGTAGAGACCTTATCCAGGATCAAAATATGGATGA 0.401 27 140 --- --- --- ---