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 PTDSS2 81490 broad.mit.edu 37 11 488541 488541 + Missense_Mutation SNP G G A rs34809643 byFrequency TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:488541G>A ENST00000308020.5 + 8 924 c.748G>A c.(748-750)Gtg>Atg p.V250M NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 250 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GATCATGGACGTGCTCGTCTG 0.627000 38 64 0 0 0.834066 0 0 NCK2 8440 broad.mit.edu 37 2 106498068 106498068 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:106498068G>A ENST00000233154.4 + 4 953 c.511G>A c.(511-513)Gag>Aag p.E171K NCK2_ENST00000393349.2_Missense_Mutation_p.E171K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 171 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GGAGGTGGACGAGGCGGCTGC 0.657000 26 79 0 0 0.681144 0 0 OR52E4 390081 broad.mit.edu 37 11 5905675 5905675 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:5905675C>G ENST00000316987.2 + 1 175 c.153C>G c.(151-153)atC>atG p.I51M NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTTGTGATCAAAACTGAAC 0.428000 82 290 0 0 0.870114 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66989019 66989019 + Missense_Mutation SNP A A C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:66989019A>C ENST00000276570.5 + 4 531 c.244A>C c.(244-246)Aag>Cag p.K82Q DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 82 J. 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) CATATACGACAAGTACGGATC 0.463000 72 112 0 0 0.870114 0 0 PLEC 5339 broad.mit.edu 37 8 144990620 144990620 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144990620C>T ENST00000322810.4 - 32 13949 c.13780G>A c.(13780-13782)Gag>Aag p.E4594K PLEC_ENST00000398774.2_Missense_Mutation_p.E4425K|PLEC_ENST00000527096.1_Missense_Mutation_p.E4480K|PLEC_ENST00000354958.2_Missense_Mutation_p.E4435K|PLEC_ENST00000436759.2_Missense_Mutation_p.E4484K|PLEC_ENST00000354589.3_Missense_Mutation_p.E4457K|PLEC_ENST00000356346.3_Missense_Mutation_p.E4443K|PLEC_ENST00000357649.2_Missense_Mutation_p.E4461K|PLEC_ENST00000345136.3_Missense_Mutation_p.E4457K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4594 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCCGTGCCCTCCTCCACCATG 0.657000 49 193 0 0 0.870114 0 0 CCDC18 343099 broad.mit.edu 37 1 93649684 93649684 + Missense_Mutation SNP A A C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:93649684A>C ENST00000343253.7 + 3 786 c.284A>C c.(283-285)cAa>cCa p.Q95P CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q213P|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q95P Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 95 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) ACTGATTTTCAAAAAAAGCCA 0.308000 17 78 0 0 0.520397 0 0 HERPUD1 9709 broad.mit.edu 37 16 56977167 56977167 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:56977167C>G ENST00000439977.2 + 8 1338 c.1141C>G c.(1141-1143)Ctt>Gtt p.L381V HERPUD1_ENST00000379792.2_Missense_Mutation_p.L356V|HERPUD1_ENST00000344114.4_Missense_Mutation_p.L222V|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L380V NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 381 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 CTTTGCCTCTCTTCTTCCAGA 0.532000 T ERG prostate 113 553 0 0 0.870114 0 0 PARK7 11315 broad.mit.edu 37 1 8045049 8045049 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:8045049G>T ENST00000493678.1 + 7 572 c.505G>T c.(505-507)Gtt>Ttt p.V169F PARK7_ENST00000377493.5_Missense_Mutation_p.V149F|PARK7_ENST00000338639.5_Missense_Mutation_p.V169F|PARK7_ENST00000377491.1_Missense_Mutation_p.V169F|PARK7_ENST00000377488.1_Missense_Mutation_p.V169F Q99497 PARK7_HUMAN parkinson protein 7 169 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) GCTTGCAATTGTTGAAGCCCT 0.517000 4 117 0.150653 0.153818 0.150653 1 0 IL36B 27177 broad.mit.edu 37 2 113785523 113785523 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:113785523C>T ENST00000327407.2 - 5 538 c.431G>A c.(430-432)gGc>gAc p.G144D IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 90 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 ATTAGTTATGCCTCTCTCCTT 0.483000 15 79 0 0 0.457914 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95103849 95103849 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:95103849G>A ENST00000379982.3 + 8 1769 c.1261G>A c.(1261-1263)Gat>Aat p.D421N GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.D52N NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 421 BTB 2.|Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GATGCTTGCCGATGTTGTCTT 0.343000 30 119 0 0 0.769981 0 0 ADAM32 203102 broad.mit.edu 37 8 39089584 39089584 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:39089584C>A ENST00000379907.4 + 15 1691 c.1564C>A c.(1564-1566)Caa>Aaa p.Q522K ADAM32_ENST00000519315.1_Missense_Mutation_p.Q416K|ADAM32_ENST00000437682.2_Missense_Mutation_p.Q423K NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 522 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TGAAGAAATACAATCTCAATC 0.323000 5 124 0.184627 0.186935 0.184627 1 0 OR4A47 403253 broad.mit.edu 37 11 48510955 48510955 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:48510955C>A ENST00000446524.1 + 1 687 c.611C>A c.(610-612)gCt>gAt p.A204D NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GGAGGACTGGCTTGCACTATT 0.443000 121 126 5.67207e-43 6.41076e-43 0.870114 1 0 MCMDC2 157777 broad.mit.edu 37 8 67796029 67796029 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:67796029C>T ENST00000422365.2 + 9 1044 c.873C>T c.(871-873)ctC>ctT p.L291L MCMDC2_ENST00000313616.5_Silent_p.L291L|MCMDC2_ENST00000541540.1_Silent_p.L228L|MCMDC2_ENST00000396592.3_Silent_p.L291L|MCMDC2_ENST00000492775.1_Silent_p.L291L NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 291 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 GGTGTCTCCTCTCCTTAACTT 0.358000 47 49 0 0 0.870114 0 0 CXCL9 4283 broad.mit.edu 37 4 76927418 76927418 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:76927418A>G ENST00000264888.5 - 2 112 c.74T>C c.(73-75)gTa>gCa p.V25A NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 25 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTTCTCACTACTGGGGTTCC 0.443000 106 159 0 0 0.870114 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767612 150767612 + Silent SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:150767612G>T ENST00000485713.1 + 11 2558 c.1518G>T c.(1516-1518)ctG>ctT p.L506L SLC4A2_ENST00000310317.5_Silent_p.L424L|SLC4A2_ENST00000461735.1_Silent_p.L492L|SLC4A2_ENST00000413384.2_Silent_p.L506L|SLC4A2_ENST00000392826.2_Silent_p.L497L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 506 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTGAAACTGCTGGAGAAGA 0.632000 8 15 2.17888e-05 2.30203e-05 0.335167 1 0 PLEC 5339 broad.mit.edu 37 8 144993498 144993498 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144993498C>T ENST00000322810.4 - 32 11071 c.10902G>A c.(10900-10902)gaG>gaA p.E3634E PLEC_ENST00000398774.2_Silent_p.E3465E|PLEC_ENST00000527096.1_Silent_p.E3520E|PLEC_ENST00000354958.2_Silent_p.E3475E|PLEC_ENST00000436759.2_Silent_p.E3524E|PLEC_ENST00000354589.3_Silent_p.E3497E|PLEC_ENST00000356346.3_Silent_p.E3483E|PLEC_ENST00000357649.2_Silent_p.E3501E|PLEC_ENST00000345136.3_Silent_p.E3497E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3634 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCGGTTCATCTCCTCACTGA 0.657000 37 144 0 0 0.819951 0 0 OR6K6 128371 broad.mit.edu 37 1 158724637 158724637 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:158724637C>A ENST00000368144.2 + 1 128 c.32C>A c.(31-33)tCc>tAc p.S11Y NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) AATCAACATTCCAATTATAGG 0.393000 28 87 2.12542e-12 2.29545e-12 0.706142 1 0 IPO9 55705 broad.mit.edu 37 1 201824934 201824934 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:201824934C>G ENST00000361565.4 + 10 1063 c.994C>G c.(994-996)Ctc>Gtc p.L332V NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 332 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CTTTGAAAATCTCGTCTTTAG 0.328000 24 70 0 0 0.681144 0 0 ECHDC1 55862 broad.mit.edu 37 6 127648182 127648182 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:127648182C>T ENST00000531967.1 - 3 849 c.346G>A c.(346-348)Gat>Aat p.D116N ECHDC1_ENST00000474289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000368291.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000528402.1_Missense_Mutation_p.D35N|ECHDC1_ENST00000309620.9_Missense_Mutation_p.D110N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.D110N|ECHDC1_ENST00000368289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.D35N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.D110N NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 116 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) GCATTCAGATCAGATCCTGAA 0.378000 23 138 0 0 0.667858 0 0 GATAD2B 57459 broad.mit.edu 37 1 153788833 153788833 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:153788833G>T ENST00000368655.4 - 7 1375 c.1132C>A c.(1132-1134)Cat>Aat p.H378N NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 378 CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCAAGAAATGAAGTAAGGGA 0.502000 18 105 5.01169e-05 5.27204e-05 0.520397 1 0 MAP3K8 1326 broad.mit.edu 37 10 30749693 30749693 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:30749693C>T ENST00000263056.1 + 9 2028 c.1332C>T c.(1330-1332)ctC>ctT p.L444L MAP3K8_ENST00000375321.1_Silent_p.L444L|MAP3K8_ENST00000542547.1_Silent_p.L444L NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 444 Missing (in oncogenic form). cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) AACGCTCTCTCTACATCGACC 0.463000 73 110 0 0 0.870114 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767613 150767613 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:150767613C>T ENST00000485713.1 + 11 2559 c.1519C>T c.(1519-1521)Ctg>Ttg p.L507L SLC4A2_ENST00000310317.5_Silent_p.L425L|SLC4A2_ENST00000461735.1_Silent_p.L493L|SLC4A2_ENST00000413384.2_Silent_p.L507L|SLC4A2_ENST00000392826.2_Silent_p.L498L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 507 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGAAACTGCTGGAGAAGAT 0.632000 8 14 0 0 0.335167 0 0 DRD5 1816 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 3 38 0 0 0.115264 0 0 RAET1L 154064 broad.mit.edu 37 6 150342164 150342164 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:150342164C>G ENST00000367341.1 - 3 507 c.508G>C c.(508-510)Gaa>Caa p.E170Q RAET1L_ENST00000286380.2_Missense_Mutation_p.E170Q Q5VY80 RET1L_HUMAN retinoic acid early transcript 1L 170 MHC class I alpha-2 like (By similarity). antigen processing and presentation|immune response anchored to membrane|MHC class I protein complex endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.4e-12) TCCCACTTTTCTTTCATCTTT 0.473000 64 202 0 0 0.870114 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885612 88885612 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:88885612C>T ENST00000319675.3 - 1 684 c.588G>A c.(586-588)gcG>gcA p.A196A NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 196 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAGAGTGATACGCGTGGATGC 0.557000 51 167 0 0 0.870114 0 0 RELL1 768211 broad.mit.edu 37 4 37633100 37633100 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:37633100C>T ENST00000454158.2 - 6 814 c.726G>A c.(724-726)cgG>cgA p.R242R RELL1_ENST00000314117.4_Silent_p.R242R NM_001085400.1 NP_001078869.1 Q8IUW5 RELL1_HUMAN RELT-like 1 242 cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 TCAGGCTTCTCCGTTCCTTCT 0.502000 32 42 0 0 0.750413 0 0 PTPMT1 114971 broad.mit.edu 37 11 47593175 47593175 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:47593175G>C ENST00000326656.8 + 3 432 c.408G>C c.(406-408)aaG>aaC p.K136N PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.K200N|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 200 Tyrosine-protein phosphatase. inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.K200N(1) breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 6 TCATTTCAAAGACATGATGTA 0.453000 31 184 0 0 0.740014 0 0 NDST3 9348 broad.mit.edu 37 4 119059225 119059225 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:119059225C>T ENST00000296499.5 + 5 1644 c.1241C>T c.(1240-1242)aCg>aTg p.T414M NDST3_ENST00000433996.2_Missense_Mutation_p.T333M NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 414 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GGCATTCCAACGGACATGGGC 0.433000 6 147 0 0 0.278610 0 0 HECW2 57520 broad.mit.edu 37 2 197171229 197171229 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:197171229C>T ENST00000260983.2 - 13 2979 c.2797G>A c.(2797-2799)Gtg>Atg p.V933M HECW2_ENST00000409111.1_Missense_Mutation_p.V577M NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 933 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAATGCAGCACGGTGAAGAAC 0.493000 4 132 0 0 0.150653 0 0 COX17 10063 broad.mit.edu 37 3 119396195 119396195 + Translation_Start_Site SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:119396195A>T ENST00000261070.2 - 0 55 COX17_ENST00000497116.1_De_novo_Start_OutOfFrame NM_005694.1 NP_005685.1 Q14061 COX17_HUMAN COX17 cytochrome c oxidase copper chaperone copper ion transport|generation of precursor metabolites and energy mitochondrial intermembrane space copper chaperone activity central_nervous_system(1)|kidney(1)|large_intestine(1) 3 GBM - Glioblastoma multiforme(114;0.227) GAGACAGCCAAATCTATGCCA 0.567000 4 16 0 0 0.387290 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408040 107408040 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:107408040C>T ENST00000340010.5 - 20 2439 c.2255G>A c.(2254-2256)cGt>cAt p.R752H SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639H NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 752 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TACCCGATTACGTAATCCTCC 0.343000 18 29 0 0 0.539581 0 0 PLEC 5339 broad.mit.edu 37 8 144997569 144997569 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997569C>T ENST00000322810.4 - 31 7108 c.6939G>A c.(6937-6939)caG>caA p.Q2313Q PLEC_ENST00000398774.2_Silent_p.Q2144Q|PLEC_ENST00000527096.1_Silent_p.Q2199Q|PLEC_ENST00000354958.2_Silent_p.Q2154Q|PLEC_ENST00000436759.2_Silent_p.Q2203Q|PLEC_ENST00000354589.3_Silent_p.Q2176Q|PLEC_ENST00000356346.3_Silent_p.Q2162Q|PLEC_ENST00000357649.2_Silent_p.Q2180Q|PLEC_ENST00000345136.3_Silent_p.Q2176Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2313 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCGCAGCGTCTGCTCGGCGA 0.662000 5 35 0 0 0.184627 0 0 ENOPH1 58478 broad.mit.edu 37 4 83375957 83375957 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:83375957G>C ENST00000273920.3 + 4 740 c.472G>C c.(472-474)Gag>Cag p.E158Q ENOPH1_ENST00000509635.1_Missense_Mutation_p.E70Q NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 158 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 AGGGAGTGTGGAGGCACAGAA 0.448000 50 173 0 0 0.870114 0 0 TWF2 11344 broad.mit.edu 37 3 52269100 52269100 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:52269100G>C ENST00000305533.5 - 2 291 c.48C>G c.(46-48)ttC>ttG p.F16L TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.F16L NM_007284.3 NP_009215.1 twinfilin actin-binding protein 2 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCTTGGCAAAGAATTCCTTCA 0.572000 20 57 0 0 0.681144 0 0 PLEC 5339 broad.mit.edu 37 8 144998346 144998346 + Silent SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998346C>G ENST00000322810.4 - 31 6331 c.6162G>C c.(6160-6162)ctG>ctC p.L2054L PLEC_ENST00000398774.2_Silent_p.L1885L|PLEC_ENST00000527096.1_Silent_p.L1940L|PLEC_ENST00000354958.2_Silent_p.L1895L|PLEC_ENST00000436759.2_Silent_p.L1944L|PLEC_ENST00000354589.3_Silent_p.L1917L|PLEC_ENST00000356346.3_Silent_p.L1903L|PLEC_ENST00000357649.2_Silent_p.L1921L|PLEC_ENST00000345136.3_Silent_p.L1917L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2054 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCGCTGCCTCAGCGTGTCCT 0.692000 5 23 0 0 0.278610 0 0 POM121L12 285877 broad.mit.edu 37 7 53104019 53104019 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:53104019C>T ENST00000408890.4 + 1 671 c.655C>T c.(655-657)Ccc>Tcc p.P219S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 219 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGCCTTCAAGCCCCTGAGCAA 0.632000 12 171 0 0 0.411799 0 0 PLEC 5339 broad.mit.edu 37 8 144997355 144997355 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997355C>T ENST00000322810.4 - 31 7322 c.7153G>A c.(7153-7155)Gag>Aag p.E2385K PLEC_ENST00000398774.2_Missense_Mutation_p.E2216K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2271K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2226K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2275K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2248K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2234K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2252K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2248K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2385 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.E2385Q(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTCTCAGCCTCGATGCGTGCC 0.647000 10 48 0 0 0.361761 0 0 EPB41L3 23136 broad.mit.edu 37 18 5478351 5478351 + Missense_Mutation SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr18:5478351T>A ENST00000341928.2 - 3 610 c.270A>T c.(268-270)aaA>aaT p.K90N RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K90N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K90N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K90N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K90N NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 90 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TGCTAGATGATTTCTGAGAAA 0.413000 53 111 0 0 0.870114 0 0 DYRK2 8445 broad.mit.edu 37 12 68052255 68052255 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:68052255G>A ENST00000344096.3 + 3 1981 c.1568G>A c.(1567-1569)cGc>cAc p.R523H DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 523 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R523H(2) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) CCTGCAGTGCGCATGACCCCA 0.577000 4 154 0 0 0.184627 0 0 EXTL1 2134 broad.mit.edu 37 1 26349620 26349620 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:26349620C>T ENST00000374280.3 + 1 1350 c.483C>T c.(481-483)gtC>gtT p.V161V NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 161 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) ACCATCTGGTCCTCCGTCTCC 0.667000 30 69 0 0 0.750413 0 0 PENK 5179 broad.mit.edu 37 8 57354258 57354258 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:57354258G>T ENST00000314922.3 - 2 453 c.377C>A c.(376-378)gCc>gAc p.A126D PENK_ENST00000451791.2_Missense_Mutation_p.A126D|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 126 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) ACTTCCATTGGCCTCTTCTTC 0.502000 53 205 4.17328e-34 4.65187e-34 0.870114 1 0 VPS11 55823 broad.mit.edu 37 11 118949887 118949887 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:118949887G>A ENST00000300793.6 + 15 2354 c.2312G>A c.(2311-2313)aGg>aAg p.R771K VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 772 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TCCGTCATCAGGGACTACCTG 0.572000 8 34 0 0 0.387290 0 0 CACYBP 27101 broad.mit.edu 37 1 174977745 174977745 + Splice_Site SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:174977745G>A ENST00000367681.2 + 5 944 c.303_splice c.e5-1 p.V102_splice CACYBP_ENST00000367679.2_Splice_Site_p.V145_splice|CACYBP_ENST00000405362.1_Splice_Site_p.V102_splice NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 145 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 TTTCTTCCAGGTCAAGACTGA 0.353000 21 82 0 0 0.624587 0 0 IGHG2 3501 broad.mit.edu 37 14 106110177 106110177 + RNA SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr14:106110177G>C ENST00000390545.2 - 0 440 CGGGGTCTTCGTGGCTCACGT 0.602000 97 233 0 0 0.870114 0 0 SLC4A10 57282 broad.mit.edu 37 2 162820676 162820676 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:162820676C>T ENST00000375514.5 + 22 3124 c.2837C>T c.(2836-2838)cCg>cTg p.P946L SLC4A10_ENST00000272716.5_Missense_Mutation_p.P935L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P935L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 965 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 TTCTGGATGCCGGCAAAACAT 0.368000 8 26 0 0 0.361761 0 0 ACSS3 79611 broad.mit.edu 37 12 81471976 81471976 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:81471976C>T ENST00000548058.1 + 1 987 c.77C>T c.(76-78)cCg>cTg p.P26L ACSS3_ENST00000261206.3_Missense_Mutation_p.P26L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 26 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGGTCCTCTCCGGCCCGGGGA 0.741000 7 9 0 0 0.248553 0 0 DTNBP1 84062 broad.mit.edu 37 6 15523422 15523422 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:15523422C>G ENST00000344537.5 - 10 1012 c.840G>C c.(838-840)gaG>gaC p.E280D DTNBP1_ENST00000462989.2_Missense_Mutation_p.E124D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E281D NM_032122.4 NP_115498.2 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 280 Dysbindin. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GGAGGGTAATCTCATTCTGAC 0.498000 Hermansky-Pudlak syndrome 54 167 0 0 0.870114 0 0 ZNF570 148268 broad.mit.edu 37 19 37974837 37974837 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:37974837G>C ENST00000330173.1 + 5 842 c.313G>C c.(313-315)Gaa>Caa p.E105Q ZNF570_ENST00000586475.1_Missense_Mutation_p.E161Q|ZNF570_ENST00000388801.3_5'UTR NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTTATGAAGAACATCAATC 0.363000 36 157 0 0 0.827153 0 0 PSMD3 5709 broad.mit.edu 37 17 38142913 38142913 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:38142913A>G ENST00000264639.4 + 3 671 c.497A>G c.(496-498)tAt>tGt p.Y166C PSMD3_ENST00000541736.1_Missense_Mutation_p.Y28C NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 166 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) GTGGAAGCCTATCTCCAACTC 0.537000 139 219 0 0 0.870114 0 0 MLLT3 4300 broad.mit.edu 37 9 20346501 20346501 + Silent SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:20346501C>A ENST00000380338.4 - 11 1933 c.1647G>T c.(1645-1647)tcG>tcT p.S549S MLLT3_ENST00000429426.2_Silent_p.S546S|MLLT3_ENST00000380321.1_Silent_p.S143S|MLLT3_ENST00000355930.6_Silent_p.S119S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TTTTGTCCAGCGAGCAAAGAT 0.388000 T MLL ALL 3 84 0.004672 0.00483105 0.115264 1 0 PLEC 5339 broad.mit.edu 37 8 144994286 144994286 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144994286C>G ENST00000322810.4 - 32 10283 c.10114G>C c.(10114-10116)Gaa>Caa p.E3372Q PLEC_ENST00000398774.2_Missense_Mutation_p.E3203Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3258Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3213Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3262Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3221Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3239Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3235Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3372 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGGTCTTTTCAAAGGTCTCA 0.642000 24 102 0 0 0.639603 0 0 BTG2 7832 broad.mit.edu 37 1 203276399 203276399 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:203276399G>A ENST00000290551.4 + 2 381 c.310G>A c.(310-312)Gtg>Atg p.V104M NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 104 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) GACCCTGTGGGTGGACCCCTA 0.652000 48 82 0 0 0.870114 0 0 PLEC 5339 broad.mit.edu 37 8 144997461 144997461 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997461C>T ENST00000322810.4 - 31 7216 c.7047G>A c.(7045-7047)ctG>ctA p.L2349L PLEC_ENST00000398774.2_Silent_p.L2180L|PLEC_ENST00000527096.1_Silent_p.L2235L|PLEC_ENST00000354958.2_Silent_p.L2190L|PLEC_ENST00000436759.2_Silent_p.L2239L|PLEC_ENST00000354589.3_Silent_p.L2212L|PLEC_ENST00000356346.3_Silent_p.L2198L|PLEC_ENST00000357649.2_Silent_p.L2216L|PLEC_ENST00000345136.3_Silent_p.L2212L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2349 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTCCGCCTTCAGCCGCTGCA 0.667000 8 17 0 0 0.411799 0 0 ZNF790 388536 broad.mit.edu 37 19 37309350 37309350 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:37309350G>T ENST00000356725.4 - 5 2016 c.1896C>A c.(1894-1896)ttC>ttA p.F632L CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAGTGAAATGAAGTGAGAGC 0.308000 4 95 0.00024832 0.000258978 0.150653 1 0 KBTBD8 84541 broad.mit.edu 37 3 67054415 67054415 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:67054415G>C ENST00000295568.4 + 3 1077 c.946G>C c.(946-948)Ggg>Cgg p.G316R KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.G342R NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 342 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CATTGCAGGAGGGTACAGGCC 0.428000 65 65 0 0 0.870114 0 0 EBF3 253738 broad.mit.edu 37 10 131640456 131640456 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:131640456C>T ENST00000368648.3 - 13 1341 c.1269G>A c.(1267-1269)acG>acA p.T423T EBF3_ENST00000355311.5_Silent_p.T432T NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 432 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.T432T(1)|p.T423T(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCATCATGCCCGTGTGTGCAG 0.602000 98 167 0 0 0.870114 0 0 TAOK1 57551 broad.mit.edu 37 17 27837971 27837971 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:27837971G>A ENST00000261716.3 + 15 2184 c.1665G>A c.(1663-1665)caG>caA p.Q555Q TAOK1_ENST00000536202.1_Silent_p.Q555Q NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 555 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TCGAGTCCCAGAAAAGAGAGT 0.338000 13 159 0 0 0.435327 0 0 ESYT2 57488 broad.mit.edu 37 7 158529772 158529772 + Nonsense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:158529772G>C ENST00000251527.5 - 19 2512 c.2447C>G c.(2446-2448)tCa>tGa p.S816* ESYT2_ENST00000435514.2_Nonsense_Mutation_p.S251* NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 844 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TGTTTTCTTTGACACGTGTGT 0.448000 31 137 0 0 0.760397 0 0 FBXW7 55294 broad.mit.edu 37 4 153250883 153250883 + Nonsense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:153250883G>A ENST00000281708.4 - 8 2406 c.1177C>T c.(1177-1179)Cga>Tga p.R393* FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 393 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTAACTATTCGGTTACCACAA 0.343000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 90 45 0 0 0.870114 0 0 PIFO 128344 broad.mit.edu 37 1 111891150 111891150 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:111891150C>A ENST00000369738.4 + 4 636 c.271C>A c.(271-273)Cat>Aat p.H91N PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.H58N NM_181643.4 NP_857594.2 primary cilia formation AATGACACCTCATGCAGGCAG 0.363000 82 293 2.47556e-37 2.78501e-37 0.870114 1 0 PLEC 5339 broad.mit.edu 37 8 144995838 144995838 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144995838C>T ENST00000322810.4 - 32 8731 c.8562G>A c.(8560-8562)caG>caA p.Q2854Q PLEC_ENST00000398774.2_Silent_p.Q2685Q|PLEC_ENST00000527096.1_Silent_p.Q2740Q|PLEC_ENST00000354958.2_Silent_p.Q2695Q|PLEC_ENST00000436759.2_Silent_p.Q2744Q|PLEC_ENST00000354589.3_Silent_p.Q2717Q|PLEC_ENST00000356346.3_Silent_p.Q2703Q|PLEC_ENST00000357649.2_Silent_p.Q2721Q|PLEC_ENST00000345136.3_Silent_p.Q2717Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2854 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCAGCTGCCTCTGCAGGGCGG 0.672000 21 42 0 0 0.624587 0 0 ERBB2 2064 broad.mit.edu 37 17 37883578 37883578 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:37883578G>C ENST00000406381.2 + 28 3610 c.3100G>C c.(3100-3102)Gag>Cag p.E1034Q ERBB2_ENST00000269571.5_Missense_Mutation_p.E1064Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.E788Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1049Q|ERBB2_ENST00000584450.1_Intron NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 1064 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACTAGGGCTGGAGCCCTCTGA 0.612000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 4 105 0 0 0.217242 0 0 BIRC6 57448 broad.mit.edu 37 2 32701366 32701366 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:32701366A>G ENST00000421745.2 + 34 6940 c.6806A>G c.(6805-6807)tAt>tGt p.Y2269C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2269 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGATCATCATATAAACTCCTG 0.318000 3 6 0 0 0.150653 0 0 CDH24 64403 broad.mit.edu 37 14 23524350 23524350 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr14:23524350G>C ENST00000397359.3 - 3 673 c.414C>G c.(412-414)atC>atG p.I138M CDH24_ENST00000554034.1_Missense_Mutation_p.I138M|CDH24_ENST00000267383.5_Missense_Mutation_p.I138M|CDH24_ENST00000487137.2_Missense_Mutation_p.I138M NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 138 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTTGCACTTTGATGATGAACT 0.587000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 182 0 0 0.812448 0 0 APOB 338 broad.mit.edu 37 2 21231200 21231200 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:21231200C>A ENST00000233242.1 - 26 8667 c.8540G>T c.(8539-8541)gGa>gTa p.G2847V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2847 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATAGCATTTCCAAAAAACAG 0.413000 61 271 5.86059e-21 6.47329e-21 0.870114 1 0 ATP6V0A1 535 broad.mit.edu 37 17 40665994 40665994 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:40665994C>T ENST00000343619.4 + 20 2369 c.2246C>T c.(2245-2247)gCg>gTg p.A749V ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A750V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A743V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A700V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A706V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A749V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A395V NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 749 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CTCGCTCATGCGCGTGAGTAC 0.582000 4 235 0 0 0.150653 0 0 MTA2 9219 broad.mit.edu 37 11 62361854 62361854 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:62361854G>C ENST00000278823.2 - 17 2107 c.1718C>G c.(1717-1719)tCt>tGt p.S573C MTA2_ENST00000527204.1_Missense_Mutation_p.S400C|MTA2_ENST00000524902.1_Missense_Mutation_p.S400C NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 573 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TCCATTGGCAGAGAAAGGAAC 0.557000 21 71 0 0 0.575678 0 0 USP49 25862 broad.mit.edu 37 6 41773477 41773477 + Silent SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:41773477G>C ENST00000394253.3 - 3 1574 c.1245C>G c.(1243-1245)ctC>ctG p.L415L USP49_ENST00000373009.3_Silent_p.L415L|USP49_ENST00000297229.2_Silent_p.L415L|USP49_ENST00000373006.1_Silent_p.L415L|USP49_ENST00000373010.1_Silent_p.L415L Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 415 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTCAGACTCGAGTTCCTGCT 0.572000 24 92 0 0 0.654019 0 0 FOLR4 390243 broad.mit.edu 37 11 94038883 94038883 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:94038883C>T ENST00000440961.2 + 1 125 c.81C>T c.(79-81)tgC>tgT p.C27C NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 27 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 TCAACATCTGCATGAATGCCA 0.587000 63 65 0 0 0.870114 0 0 CNTLN 54875 broad.mit.edu 37 9 17409412 17409412 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:17409412C>A ENST00000380647.3 + 16 2821 c.2737C>A c.(2737-2739)Caa>Aaa p.Q913K CNTLN_ENST00000262360.5_Missense_Mutation_p.Q913K|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q913K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 913 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGAAGACAGCCAAACACAAGG 0.343000 39 146 2.05212e-20 2.2564e-20 0.812448 1 0 KRT6C 286887 broad.mit.edu 37 12 52864386 52864386 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:52864386C>G ENST00000252250.6 - 6 1153 c.1106G>C c.(1105-1107)aGa>aCa p.R369T NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 369 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GTCCCCATGTCTGCCTGCTGT 0.547000 28 114 0 0 0.769981 0 0 ODF2 4957 broad.mit.edu 37 9 131260797 131260797 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:131260797G>A ENST00000303890.5 + 21 2631 c.2046G>A c.(2044-2046)cgG>cgA p.R682R ODF2_ENST00000351030.3_Silent_p.R701R|ODF2_ENST00000444119.2_Silent_p.R682R|ODF2_ENST00000372796.4_Silent_p.R706R|ODF2_ENST00000372807.5_Silent_p.R701R|ODF2_ENST00000434106.2_Silent_p.R706R NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 706 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AGAAAACACGGGAATGTGGGA 0.567000 4 16 0 0 0.184627 0 0 LRP2 4036 broad.mit.edu 37 2 170103911 170103911 + Nonsense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:170103911G>T ENST00000263816.3 - 20 3170 c.2885C>A c.(2884-2886)tCg>tAg p.S962* LRP2_ENST00000443831.1_Nonsense_Mutation_p.S825* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 962 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.S962*(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GACATCATACGATTTCAAATG 0.398000 26 65 5.61819e-17 6.14964e-17 0.693898 1 0 MS4A1 931 broad.mit.edu 37 11 60234505 60234505 + Nonsense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:60234505G>A ENST00000534668.1 + 6 936 c.647G>A c.(646-648)tGg>tAg p.W216* MS4A1_ENST00000528313.1_Nonsense_Mutation_p.W49*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.W216*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.W216*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.W203* NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 216 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GAGAATGAATGGAAAAGAACG 0.433000 4 151 0 0 0.150653 0 0 RARA 5914 broad.mit.edu 37 17 38487504 38487504 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:38487504G>T ENST00000254066.5 + 2 489 c.34G>T c.(34-36)Ggg>Tgg p.G12W RARA_ENST00000394089.2_Missense_Mutation_p.G12W|RARA_ENST00000425707.3_Missense_Mutation_p.G12W NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 12 Modulating. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CCCGACACCTGGGGGCGGGCA 0.662000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 23 122 3.28513e-13 3.56378e-13 0.667858 1 0 SORCS1 114815 broad.mit.edu 37 10 108337272 108337272 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:108337272G>A ENST00000263054.6 - 26 3420 c.3413C>T c.(3412-3414)cCt>cTt p.P1138L SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1138 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGAGTCACCAGGTTGAGTAGA 0.493000 5 179 0 0 0.184627 0 0 ZNF384 171017 broad.mit.edu 37 12 6787551 6787551 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:6787551G>A ENST00000396795.1 - 5 925 c.428C>T c.(427-429)tCg>tTg p.S143L ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396799.2_Missense_Mutation_p.S143L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S143L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S127L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S143L Q8TF68 ZN384_HUMAN zinc finger protein 384 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 CATGGGAGCCGAAATGGGGAA 0.552000 T """EWSR1, TAF15 """ ALL 3 50 0 0 0.115264 0 0 DPYSL4 10570 broad.mit.edu 37 10 134004265 134004265 + Silent SNP G G A rs137897999 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:134004265G>A ENST00000338492.4 + 2 218 c.54G>A c.(52-54)ctG>ctA p.L18L DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 18 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ACCGCCTTCTGATCAGAGGTG 0.438000 18 84 0 0 0.557998 0 0 PLEC 5339 broad.mit.edu 37 8 144999083 144999083 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144999083C>T ENST00000322810.4 - 31 5594 c.5425G>A c.(5425-5427)Gag>Aag p.E1809K PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1809 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCCGCGCCTCGCGCTCCGCC 0.726000 9 14 0 0 0.387290 0 0 FOXD3 27022 broad.mit.edu 37 1 63789386 63789386 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:63789386G>A ENST00000371116.2 + 1 657 c.657G>A c.(655-657)ccG>ccA p.P219P RP4-792G4.2_ENST00000427268.1_RNA NM_012183.2 NP_036315.1 Q9UJU5 FOXD3_HUMAN forkhead box D3 219 axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1) 5 CCCTGGACCCGCAGTCCGAGG 0.642000 5 186 0 0 0.184627 0 0 CPED1 79974 broad.mit.edu 37 7 120655860 120655860 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:120655860G>C ENST00000310396.5 + 3 858 c.391G>C c.(391-393)Gaa>Caa p.E131Q CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.E131Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E131Q NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CATCGCTGAAGAAAGGCTCAA 0.463000 11 24 0 0 0.435327 0 0 SCN10A 6336 broad.mit.edu 37 3 38833599 38833599 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:38833599A>G ENST00000449082.2 - 2 330 c.331T>C c.(331-333)Tgg>Cgg p.W111R NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 111 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGAATAGCCACAGGGCCCGA 0.458000 118 101 0 0 0.870114 0 0 CES1 1066 broad.mit.edu 37 16 55846957 55846957 + Splice_Site SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:55846957T>A ENST00000422046.2 - 9 1224 c.e9-2 CES1_ENST00000361503.4_Splice_Site|CES1_ENST00000360526.3_Splice_Site P23141 EST1_HUMAN carboxylesterase 1 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GGGTTGACTCTGGGGAGAGAG 0.542000 67 101 0 0 0.870114 0 0 SVIL 6840 broad.mit.edu 37 10 29762869 29762869 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:29762869C>G ENST00000375398.2 - 32 5876 c.5427G>C c.(5425-5427)gaG>gaC p.E1809D SVIL_ENST00000375400.3_Missense_Mutation_p.E1383D|SVIL_ENST00000355867.4_Missense_Mutation_p.E1809D|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000535393.1_Missense_Mutation_p.E723D|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA O95425 SVIL_HUMAN supervillin 1809 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGACGCACTTCTCTTTGCCGG 0.627000 15 50 0 0 0.479597 0 0 LEFTY2 7044 broad.mit.edu 37 1 226127192 226127192 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:226127192C>T ENST00000366820.5 - 3 954 c.606G>A c.(604-606)tcG>tcA p.S202S LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.S168S NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 202 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) CCCTCTGCACCGACACCTGTA 0.721000 6 21 0 0 0.411799 0 0 LRP2 4036 broad.mit.edu 37 2 169993958 169993958 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:169993958C>G ENST00000263816.3 - 76 13849 c.13564G>C c.(13564-13566)Gaa>Caa p.E4522Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4522 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATTGGGTTTTCAAATATTATG 0.453000 37 106 0 0 0.834066 0 0 PLEC 5339 broad.mit.edu 37 8 144993992 144993992 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144993992C>T ENST00000322810.4 - 32 10577 c.10408G>A c.(10408-10410)Gac>Aac p.D3470N PLEC_ENST00000398774.2_Missense_Mutation_p.D3301N|PLEC_ENST00000527096.1_Missense_Mutation_p.D3356N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3311N|PLEC_ENST00000436759.2_Missense_Mutation_p.D3360N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3333N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3319N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3337N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3333N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3470 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCTTGCCGTCCTTGAGCTGC 0.667000 31 103 0 0 0.717897 0 0 PLEC 5339 broad.mit.edu 37 8 144997545 144997545 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997545C>T ENST00000322810.4 - 31 7132 c.6963G>A c.(6961-6963)gtG>gtA p.V2321V PLEC_ENST00000398774.2_Silent_p.V2152V|PLEC_ENST00000527096.1_Silent_p.V2207V|PLEC_ENST00000354958.2_Silent_p.V2162V|PLEC_ENST00000436759.2_Silent_p.V2211V|PLEC_ENST00000354589.3_Silent_p.V2184V|PLEC_ENST00000356346.3_Silent_p.V2170V|PLEC_ENST00000357649.2_Silent_p.V2188V|PLEC_ENST00000345136.3_Silent_p.V2184V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2321 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCTCCTGCTCCACCTGCGCCT 0.657000 5 27 0 0 0.217242 0 0 ADCY9 115 broad.mit.edu 37 16 4164183 4164183 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:4164183C>T ENST00000294016.3 - 2 1799 c.1261G>A c.(1261-1263)Gat>Aat p.D421N NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 421 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCGAACAGATCGTTCAGGAGA 0.552000 28 135 0 0 0.681144 0 0 SMPD1 6609 broad.mit.edu 37 11 6414465 6414465 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:6414465C>G ENST00000342245.4 + 3 1279 c.1111C>G c.(1111-1113)Ctt>Gtt p.L371V SMPD1_ENST00000527275.1_Missense_Mutation_p.L370V|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000356761.2_Intron NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 369 P -> S (in NPDB). cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) GTTCTATGCTCTTTCCCCATA 0.493000 10 58 0 0 0.361761 0 0 PLEC 5339 broad.mit.edu 37 8 144999089 144999089 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144999089C>G ENST00000322810.4 - 31 5588 c.5419G>C c.(5419-5421)Gag>Cag p.E1807Q PLEC_ENST00000398774.2_Missense_Mutation_p.E1638Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1693Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1648Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1697Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1656Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1674Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1670Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1807 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTCGCGCTCCGCCTCCTCC 0.721000 7 13 0 0 0.335167 0 0 ERBB2 2064 broad.mit.edu 37 17 37882022 37882022 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:37882022G>A ENST00000406381.2 + 25 3208 c.2698G>A c.(2698-2700)Gag>Aag p.E900K ERBB2_ENST00000269571.5_Missense_Mutation_p.E930K|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930K NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 930 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCCAGCCCGGGAGATCCCTGA 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 110 0 0 0.248553 0 0 PRRC2C 23215 broad.mit.edu 37 1 171492442 171492442 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:171492442G>A ENST00000367742.3 + 8 1158 c.916G>A c.(916-918)Gag>Aag p.E306K PRRC2C_ENST00000426496.2_Missense_Mutation_p.E304K|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E306K|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E304K Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 304 protein C-terminus binding AGAACTGAAGGAGCTTGATAA 0.448000 23 29 0 0 0.654019 0 0 SAMM50 25813 broad.mit.edu 37 22 44392241 44392241 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr22:44392241G>A ENST00000350028.4 + 15 1545 c.1388G>A c.(1387-1389)gGa>gAa p.G463E SAMM50_ENST00000396202.3_Missense_Mutation_p.G253E NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 463 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GTCCAGTTTGGAGCTGGGATA 0.597000 127 413 0 0 0.870114 0 0 CDH19 28513 broad.mit.edu 37 18 64178822 64178822 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr18:64178822G>C ENST00000262150.2 - 10 1851 c.1559C>G c.(1558-1560)aCa>aGa p.T520R CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 520 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) ATCTATGATTGTAAAACTTGA 0.308000 35 37 0 0 0.796494 0 0 UHRF1 29128 broad.mit.edu 37 19 4932907 4932907 + RNA SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:4932907G>C ENST00000592666.1 + 0 1300 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GTACGACGCGGAGATCTCCAG 0.652000 18 49 0 0 0.539581 0 0 SOGA1 140710 broad.mit.edu 37 20 35443638 35443638 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr20:35443638C>T ENST00000237536.4 - 5 2548 c.2207G>A c.(2206-2208)gGg>gAg p.G736E SOGA1_ENST00000456801.2_Missense_Mutation_p.G339E|SOGA1_ENST00000357779.3_Missense_Mutation_p.G498E|SOGA1_ENST00000279034.5_Missense_Mutation_p.G498E NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 498 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GACAGAGCACCCGAGGACTGC 0.602000 89 155 0 0 0.870114 0 0 OR8I2 120586 broad.mit.edu 37 11 55861087 55861087 + Missense_Mutation SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:55861087T>C ENST00000302124.2 + 1 335 c.304T>C c.(304-306)Tac>Cac p.Y102H OR8I2_ENST00000560768.1_Missense_Mutation_p.Y102H Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TGTTCAAATGTACTTTTTTGT 0.398000 122 146 0 0 0.870114 0 0 PIP 5304 broad.mit.edu 37 7 142832288 142832288 + Splice_Site SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:142832288C>T ENST00000291009.3 + 2 137 c.95_splice c.e2-1 p.R33_splice NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 33 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) CACAATCAGTCGGAAGATCAT 0.463000 7 23 0 0 0.248553 0 0 ATP1A4 480 broad.mit.edu 37 1 160134194 160134194 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:160134194G>T ENST00000368081.4 + 7 1498 c.1027G>T c.(1027-1029)Ggg>Tgg p.G343W NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 343 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTGCCTGAGGGGCTGTTGGC 0.512000 68 263 2.10328e-26 2.33378e-26 0.870114 1 0 RIMS3 9783 broad.mit.edu 37 1 41107474 41107474 + Missense_Mutation SNP C C T rs149583022 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:41107474C>T ENST00000372684.3 - 3 593 c.124G>A c.(124-126)Gcc>Acc p.A42T RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 42 neurotransmitter transport cell junction|synapse p.A42T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CGCTTCTTGGCGGTGGTGGTC 0.657000 17 62 0 0 0.575678 0 0 SORCS3 22986 broad.mit.edu 37 10 107022174 107022174 + Missense_Mutation SNP G G A rs140421862 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:107022174G>A ENST00000369701.3 + 26 3756 c.3529G>A c.(3529-3531)Gcc>Acc p.A1177T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1177 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAGTGAAAACGCCCCCAAAAT 0.507000 51 64 0 0 0.870114 0 0 PRKCI 5584 broad.mit.edu 37 3 170002329 170002329 + Missense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:170002329A>T ENST00000295797.4 + 12 1453 c.1148A>T c.(1147-1149)aAt>aTt p.N383I NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 383 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AAACTGGACAATGTATTACTG 0.328000 43 122 0 0 0.853193 0 0 KLHL24 54800 broad.mit.edu 37 3 183368215 183368215 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:183368215G>A ENST00000454652.1 + 4 457 c.71G>A c.(70-72)cGa>cAa p.R24Q KLHL24_ENST00000242810.6_Missense_Mutation_p.R24Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R24Q Q6TFL4 KLH24_HUMAN kelch-like family member 24 24 axon|cytoplasm|perikaryon p.R24Q(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GCAACTAAGCGAAAAGTTTTT 0.398000 52 116 0 0 0.870114 0 0 DNAH5 1767 broad.mit.edu 37 5 13841896 13841896 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:13841896G>C ENST00000265104.4 - 33 5493 c.5389C>G c.(5389-5391)Cag>Gag p.Q1797E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1797 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AATGAGGACTGAGATTCTTCC 0.438000 Kartagener syndrome 30 143 0 0 0.717897 0 0 RGS22 26166 broad.mit.edu 37 8 101020653 101020653 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:101020653G>A ENST00000360863.6 - 15 2505 c.2311C>T c.(2311-2313)Ctt>Ttt p.L771F RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L759F|RGS22_ENST00000523287.1_Missense_Mutation_p.L590F NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 771 Poly-Leu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CATGGCTCAAGAAGGAGGAGA 0.378000 35 168 0 0 0.796494 0 0 LTN1 26046 broad.mit.edu 37 21 30315991 30315991 + Nonsense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr21:30315991G>C ENST00000361371.4 - 23 4368 c.4218C>G c.(4216-4218)taC>taG p.Y1406* LTN1_ENST00000389194.2_Nonsense_Mutation_p.Y1452* NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1406 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ATTCTTACTTGTATAGCATAT 0.294000 35 46 0 0 0.779181 0 0 C16orf78 123970 broad.mit.edu 37 16 49430524 49430524 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:49430524G>T ENST00000299191.3 + 4 702 c.585G>T c.(583-585)gaG>gaT p.E195D NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 195 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GCCTCATGGAGAAAAGCACCG 0.547000 21 32 7.45023e-12 8.01064e-12 0.592651 1 0 PLEC 5339 broad.mit.edu 37 8 144998138 144998138 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998138C>T ENST00000322810.4 - 31 6539 c.6370G>A c.(6370-6372)Gag>Aag p.E2124K PLEC_ENST00000398774.2_Missense_Mutation_p.E1955K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2010K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1965K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2014K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1987K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1973K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1991K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1987K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2124 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGCGCTCCTCAGCCTCACGG 0.726000 3 11 0 0 0.115264 0 0 BHLHE22 27319 broad.mit.edu 37 8 65494156 65494156 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:65494156C>T ENST00000321870.1 + 1 1343 c.809C>T c.(808-810)cCc>cTc p.P270L RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 270 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 GCGGTGATCCCCTACGCGCAC 0.637000 5 14 0 0 0.184627 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517292 140517292 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:140517292G>T ENST00000231134.5 + 1 2493 c.2276G>T c.(2275-2277)gGg>gTg p.G759V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 759 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) GGAGACTCAGGGGCCGGCGAG 0.582000 9 242 9.70103e-10 1.03848e-09 0.361761 1 0 ZNF676 163223 broad.mit.edu 37 19 22363101 22363101 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:22363101G>C ENST00000397121.2 - 3 1735 c.1418C>G c.(1417-1419)gCa>gGa p.A473G NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGGTTTCTCTGCAGCATGAAT 0.388000 22 159 0 0 0.779181 0 0 AACS 65985 broad.mit.edu 37 12 125621304 125621304 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:125621304G>A ENST00000316519.6 + 17 1981 c.1775G>A c.(1774-1776)gGg>gAg p.G592E AACS_ENST00000543665.1_Intron|AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.G190E NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 592 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ATGGCCTCCGGGCACGCCTTC 0.592000 72 82 0 0 0.870114 0 0 ZNF676 163223 broad.mit.edu 37 19 22363091 22363091 + Silent SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:22363091A>G ENST00000397121.2 - 3 1745 c.1428T>C c.(1426-1428)ccT>ccC p.P476P NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACATTTGTAAGGTTTCTCTG 0.388000 38 151 0 0 0.870114 0 0 PLEC 5339 broad.mit.edu 37 8 144995096 144995096 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144995096C>T ENST00000322810.4 - 32 9473 c.9304G>A c.(9304-9306)Gag>Aag p.E3102K PLEC_ENST00000398774.2_Missense_Mutation_p.E2933K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2988K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2943K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2992K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2965K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2951K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2969K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2965K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3102 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCTCCTGCTCCTCCACCACC 0.637000 18 49 0 0 0.520397 0 0 CCPG1 9236 broad.mit.edu 37 15 55652461 55652461 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr15:55652461C>A ENST00000310958.6 - 8 1808 c.1510G>T c.(1510-1512)Gta>Tta p.V504L CCPG1_ENST00000569205.1_Missense_Mutation_p.V504L|CCPG1_ENST00000442196.3_Missense_Mutation_p.V504L|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 504 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TGATGCCTTACAAACTCCTTG 0.363000 184 205 4.04931e-71 4.59805e-71 0.870114 1 0 HLF 3131 broad.mit.edu 37 17 53345376 53345376 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:53345376G>A ENST00000226067.5 + 2 853 c.380G>A c.(379-381)aGc>aAc p.S127N HLF_ENST00000575345.1_Missense_Mutation_p.S42N|HLF_ENST00000573945.1_Missense_Mutation_p.S42N|HLF_ENST00000430986.2_Missense_Mutation_p.S42N NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 127 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 ATGGACCTCAGCAGCCGGGCC 0.617000 T TCF3 ALL 49 205 0 0 0.870114 0 0 CD28 940 broad.mit.edu 37 2 204594487 204594487 + Missense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:204594487A>T ENST00000374481.3 + 4 496 c.274A>T c.(274-276)Att>Ttt p.I92F CD28_ENST00000374478.4_Missense_Mutation_p.I57F|CD28_ENST00000458610.2_Missense_Mutation_p.I190F|CD28_ENST00000324106.7_Missense_Mutation_p.I176F P10747 CD28_HUMAN CD28 molecule 176 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 GGCCTTTATTATTTTCTGGGT 0.433000 126 176 0 0 0.870114 0 0 UNC5C 8633 broad.mit.edu 37 4 96091409 96091409 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:96091409G>A ENST00000453304.1 - 15 2874 c.2526C>T c.(2524-2526)ttC>ttT p.F842F NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 842 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGGATGCTGAAAGCACTGG 0.592000 94 380 0 0 0.870114 0 0 KIAA1429 25962 broad.mit.edu 37 8 95547138 95547138 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:95547138G>A ENST00000297591.5 - 5 488 c.413C>T c.(412-414)tCt>tTt p.S138F KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 138 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) tggtggtggAGAGTCTCTGTC 0.458000 22 70 0 0 0.592651 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962919 88962919 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:88962919C>T ENST00000333190.4 + 4 1232 c.623C>T c.(622-624)tCa>tTa p.S208L NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 208 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAAACATCTTCAGATCTCAGC 0.388000 HNSCC(36;0.09) 26 83 0 0 0.681144 0 0 PYGM 5837 broad.mit.edu 37 11 64519902 64519902 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:64519902G>A ENST00000164139.3 - 13 1991 c.1593C>T c.(1591-1593)ttC>ttT p.F531F PYGM_ENST00000377432.3_Silent_p.F443F NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 531 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CATCCCGAATGAAAGCTTCAT 0.577000 14 83 0 0 0.479597 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860086 96860086 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:96860086G>A ENST00000375360.3 + 7 1416 c.1076G>A c.(1075-1077)cGa>cAa p.R359Q PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411Q NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 359 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TTTGACAATCGAGGCATGATT 0.502000 21 110 0 0 0.575678 0 0 FTSJ3 117246 broad.mit.edu 37 17 61901558 61901558 + Nonsense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:61901558G>C ENST00000427159.2 - 12 1685 c.1040C>G c.(1039-1041)tCa>tGa p.S347* NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 347 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TCCAGCTGTTGAGTCCTCCTC 0.537000 17 374 0 0 0.539581 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225622 26225622 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:26225622G>C ENST00000360408.1 + 1 240 c.240G>C c.(238-240)aaG>aaC p.K80N NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 80 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) AGGACTTCAAGACCGACCTGC 0.597000 29 84 0 0 0.717897 0 0 RYR2 6262 broad.mit.edu 37 1 237829847 237829847 + Silent SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:237829847G>T ENST00000366574.2 + 57 8789 c.8472G>T c.(8470-8472)cgG>cgT p.R2824R RYR2_ENST00000542537.1_Silent_p.R2808R|RYR2_ENST00000360064.6_Silent_p.R2822R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2824 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAGTCCCCGGGCCATTGACA 0.363000 11 23 3.03607e-14 3.30837e-14 0.411799 1 0 NOA1 84273 broad.mit.edu 37 4 57843128 57843128 + Silent SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:57843128C>G ENST00000264230.4 - 1 1861 c.624G>C c.(622-624)gcG>gcC p.A208A NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 208 GTP binding GCCGCCGCAACGCGGCGCTCA 0.731000 14 26 0 0 0.639603 0 0 COG5 10466 broad.mit.edu 37 7 106877029 106877029 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:106877029C>G ENST00000393603.2 - 18 2321 c.2050G>C c.(2050-2052)Gaa>Caa p.E684Q COG5_ENST00000347053.3_Missense_Mutation_p.E663Q|COG5_ENST00000297135.3_Missense_Mutation_p.E684Q NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 663 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TCCAAGCATTCAAAGTGTTTA 0.413000 26 75 0 0 0.654019 0 0 IWS1 55677 broad.mit.edu 37 2 128253582 128253582 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:128253582C>T ENST00000295321.4 - 7 1967 c.1708G>A c.(1708-1710)Gct>Act p.A570T AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 570 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) ACCTCAGCAGCTTCATTCATC 0.468000 122 173 0 0 0.870114 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061677 103061677 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:103061677A>G ENST00000264260.2 + 9 1538 c.949A>G c.(949-951)Att>Gtt p.I317V IL18RAP_ENST00000409369.1_Missense_Mutation_p.I175V NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 317 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGATGAAATCATTGAGCGTAA 0.398000 30 40 0 0 0.750413 0 0 IQCH 64799 broad.mit.edu 37 15 67681204 67681204 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr15:67681204C>T ENST00000335894.4 + 12 1558 c.1492C>T c.(1492-1494)Cat>Tat p.H498Y IQCH_ENST00000546225.1_Missense_Mutation_p.H246Y|IQCH_ENST00000358767.3_Missense_Mutation_p.H325Y|IQCH_ENST00000360277.4_Missense_Mutation_p.H250Y NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 498 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CTGCTCCCATCATATGAATGA 0.408000 6 166 0 0 0.217242 0 0 ANK1 286 broad.mit.edu 37 8 41519012 41519012 + Missense_Mutation SNP C C T rs139762174 byFrequency TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:41519012C>T ENST00000396942.1 - 42 5773 c.5690G>A c.(5689-5691)cGg>cAg p.R1897Q ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.R1850Q|ANK1_ENST00000314214.8_Missense_Mutation_p.R147Q|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.R1872Q|ANK1_ENST00000522543.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron P16157 ANK1_HUMAN ankyrin 1, erythrocytic 0 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R147L(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAGGCTGGCCCGCTTCACTAT 0.622000 19 134 0 0 0.592651 0 0 CHN1 1123 broad.mit.edu 37 2 175742727 175742727 + Silent SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:175742727T>A ENST00000409900.3 - 6 703 c.390A>T c.(388-390)gcA>gcT p.A130A CHN1_ENST00000409156.3_Silent_p.A130A|CHN1_ENST00000488080.1_Intron NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 130 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TGTATTCTGCTGCCTTGGTTT 0.433000 T TAF15 extraskeletal myxoid chondrosarcoma 30 229 0 0 0.717897 0 0 PLEC 5339 broad.mit.edu 37 8 144993503 144993503 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144993503C>T ENST00000322810.4 - 32 11066 c.10897G>A c.(10897-10899)Gag>Aag p.E3633K PLEC_ENST00000398774.2_Missense_Mutation_p.E3464K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3519K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3474K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3523K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3496K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3482K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3500K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3496K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3633 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTCATCTCCTCACTGAAGTAG 0.662000 31 138 0 0 0.760397 0 0 PLEC 5339 broad.mit.edu 37 8 144997511 144997511 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997511C>T ENST00000322810.4 - 31 7166 c.6997G>A c.(6997-6999)Gag>Aag p.E2333K PLEC_ENST00000398774.2_Missense_Mutation_p.E2164K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2219K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2174K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2223K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2196K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2182K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2200K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2196K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2333 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGGTCTCCTCCAGCTGCAGC 0.652000 7 22 0 0 0.248553 0 0 MAP4K3 8491 broad.mit.edu 37 2 39517434 39517434 + Translation_Start_Site SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:39517434T>A ENST00000536018.1 - 0 666 MAP4K3_ENST00000263881.3_Splice_Site_p.K438_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.K417_splice|MAP4K3_ENST00000437545.1_Splice_Site_p.K354_splice Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TCTGTCTACCTTTGGTGGCAA 0.303000 11 56 0 0 0.387290 0 0 TPX2 22974 broad.mit.edu 37 20 30363779 30363779 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr20:30363779C>G ENST00000340513.4 + 8 1246 c.718C>G c.(718-720)Ctg>Gtg p.L240V TPX2_ENST00000300403.6_Missense_Mutation_p.L240V Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 240 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GAAACTTGCTCTGGCTGGAAT 0.393000 11 121 0 0 0.520397 0 0 DNAJC8 22826 broad.mit.edu 37 1 28536520 28536520 + Missense_Mutation SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:28536520T>A ENST00000263697.4 - 5 388 c.362A>T c.(361-363)gAt>gTt p.D121V DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 121 J. nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) CTGAATTACATCCAGGGCCCT 0.428000 22 106 0 0 0.667858 0 0 KCNC2 3747 broad.mit.edu 37 12 75444702 75444702 + Silent SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:75444702G>T ENST00000549446.1 - 3 1763 c.1083C>A c.(1081-1083)ctC>ctA p.L361L KCNC2_ENST00000540018.1_Silent_p.L361L|KCNC2_ENST00000548513.1_Silent_p.L361L|KCNC2_ENST00000298972.1_Silent_p.L361L|KCNC2_ENST00000393288.2_Silent_p.L361L|KCNC2_ENST00000550433.1_Silent_p.L361L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Silent_p.L361L|KCNC2_ENST00000350228.2_Silent_p.L361L NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 361 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AATGGCGGGTGAGCTTGAAAA 0.463000 5 60 0.184627 0.186935 0.184627 1 0 C1orf173 127254 broad.mit.edu 37 1 75037806 75037806 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:75037806C>T ENST00000326665.5 - 14 3806 c.3588G>A c.(3586-3588)ctG>ctA p.L1196L C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1196 Glu-rich. p.L1196L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCCTGCTGGACAGCTCTTCTC 0.552000 129 198 0 0 0.870114 0 0 ALPK1 80216 broad.mit.edu 37 4 113352225 113352225 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:113352225G>C ENST00000458497.1 + 11 1801 c.1522G>C c.(1522-1524)Gaa>Caa p.E508Q ALPK1_ENST00000504176.2_Missense_Mutation_p.E430Q|ALPK1_ENST00000177648.9_Missense_Mutation_p.E508Q NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 508 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TACTACTCAAGAAAAGCCACA 0.398000 26 67 0 0 0.706142 0 0 PCDH18 54510 broad.mit.edu 37 4 138453011 138453011 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:138453011C>A ENST00000344876.4 - 1 618 c.232G>T c.(232-234)Gta>Tta p.V78L PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.V78L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 78 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V78L(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCGTTTACTACAAGTAGAGGA 0.423000 5 273 0.248553 0.250615 0.248553 1 0 PLEC 5339 broad.mit.edu 37 8 144998210 144998210 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998210C>G ENST00000322810.4 - 31 6467 c.6298G>C c.(6298-6300)Gag>Cag p.E2100Q PLEC_ENST00000398774.2_Missense_Mutation_p.E1931Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1986Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1941Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1990Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1949Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1963Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2100 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGGCCTGCTCCTTGCTGCGC 0.726000 5 17 0 0 0.217242 0 0 MTA2 9219 broad.mit.edu 37 11 62362037 62362037 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:62362037G>A ENST00000278823.2 - 16 2032 c.1643C>T c.(1642-1644)tCc>tTc p.S548F MTA2_ENST00000527204.1_Missense_Mutation_p.S375F|MTA2_ENST00000524902.1_Missense_Mutation_p.S375F NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 548 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 CCGGTTCTGGGACAGCTGGTT 0.527000 30 124 0 0 0.706142 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790797 75790797 + Translation_Start_Site SNP C C T rs147946451 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:75790797C>T ENST00000478296.1 - 0 274 ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Missense_Mutation_p.V50M|ZNF717_ENST00000400845.3_Missense_Mutation_p.V43M|ZNF717_ENST00000422325.1_Missense_Mutation_p.V50M C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TCCAGCATCACGTCCCTGTAC 0.502000 2 1 0 0 0.115264 0 0 ODF2 4957 broad.mit.edu 37 9 131260723 131260723 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:131260723G>C ENST00000303890.5 + 21 2557 c.1972G>C c.(1972-1974)Gag>Cag p.E658Q ODF2_ENST00000351030.3_Missense_Mutation_p.E677Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E658Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E682Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E677Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E682Q NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 682 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CCAGAATATCGAGTTCCTACA 0.577000 5 17 0 0 0.278610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361310 70361310 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:70361310G>C ENST00000305107.6 - 1 316 c.270C>G c.(268-270)atC>atG p.I90M UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I90M|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 90 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCAGCTGCTTGATAATATCCT 0.348000 15 53 0 0 0.479597 0 0 WDR96 80217 broad.mit.edu 37 10 105974155 105974155 + Missense_Mutation SNP T T G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:105974155T>G ENST00000357060.3 - 4 561 c.446A>C c.(445-447)aAg>aCg p.K149T WDR96_ENST00000369719.1_Missense_Mutation_p.K79T|WDR96_ENST00000428666.1_Missense_Mutation_p.K149T|WDR96_ENST00000369720.1_Missense_Mutation_p.K79T|WDR96_ENST00000278064.2_Missense_Mutation_p.K79T NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 149 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTGTGATTTCTTACACAAAAT 0.373000 42 56 0 0 0.859065 0 0 PHLDB2 90102 broad.mit.edu 37 3 111688638 111688638 + Silent SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:111688638A>G ENST00000431670.2 + 16 3828 c.3417A>G c.(3415-3417)gtA>gtG p.V1139V PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1139 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GTTACCATGTATCAATCACAG 0.458000 61 138 0 0 0.870114 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069409 57069409 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:57069409C>T ENST00000532437.1 - 8 5154 c.4843G>A c.(4843-4845)Gca>Aca p.A1615T TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1615T Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1615 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ACCCGAGATGCCCGTGGCTCT 0.587000 4 106 0 0 0.184627 0 0 PLEC 5339 broad.mit.edu 37 8 144997754 144997754 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144997754C>T ENST00000322810.4 - 31 6923 c.6754G>A c.(6754-6756)Gag>Aag p.E2252K PLEC_ENST00000398774.2_Missense_Mutation_p.E2083K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2138K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2093K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2142K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2115K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2101K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2119K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2115K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2252 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTCAGCCGCTCGGCCTCTTCC 0.761000 6 14 0 0 0.248553 0 0 TOX2 84969 broad.mit.edu 37 20 42694519 42694519 + Silent SNP G G A rs143301359 byFrequency TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr20:42694519G>A ENST00000358131.5 + 6 1282 c.1074G>A c.(1072-1074)acG>acA p.T358T TOX2_ENST00000341197.3_Silent_p.T376T|TOX2_ENST00000435864.2_Silent_p.T254T|TOX2_ENST00000423191.1_Silent_p.T334T|TOX2_ENST00000372999.1_Silent_p.T334T NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TCGCCCGGACGCTGGGCTCCA 0.711000 25 78 0 0 0.859065 0 0 KIF7 374654 broad.mit.edu 37 15 90176982 90176982 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr15:90176982G>A ENST00000394412.3 - 12 2603 c.2527C>T c.(2527-2529)Cgc>Tgc p.R843C NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 843 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTCTCCTCGCGAAGCCGCCTC 0.657000 5 20 0 0 0.184627 0 0 ERBB2 2064 broad.mit.edu 37 17 37881982 37881982 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:37881982G>A ENST00000406381.2 + 25 3168 c.2658G>A c.(2656-2658)atG>atA p.M886I ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 916 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GGGAGCTGATGACTTTTGGGG 0.602000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 7 110 0 0 0.248553 0 0 OR11H6 122748 broad.mit.edu 37 14 20692282 20692282 + Nonsense_Mutation SNP T T A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr14:20692282T>A ENST00000315519.2 + 1 492 c.414T>A c.(412-414)taT>taA p.Y138* NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTATGGCTTATGATCGGTACC 0.428000 136 188 0 0 0.870114 0 0 KIF6 221458 broad.mit.edu 37 6 39563898 39563898 + Missense_Mutation SNP T T G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:39563898T>G ENST00000287152.7 - 7 872 c.778A>C c.(778-780)Act>Cct p.T260P KIF6_ENST00000538893.1_Missense_Mutation_p.T260P|KIF6_ENST00000373215.3_Missense_Mutation_p.T260P|KIF6_ENST00000373216.3_Missense_Mutation_p.T260P|KIF6_ENST00000373213.4_Missense_Mutation_p.T99P NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 260 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCTACTCCAGTCTTTGCAACT 0.448000 4 105 0 0 0.184627 0 0 NLRP9 338321 broad.mit.edu 37 19 56241286 56241286 + Missense_Mutation SNP T T G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:56241286T>G ENST00000332836.2 - 3 1932 c.1905A>C c.(1903-1905)ttA>ttC p.L635F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 635 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTTCCATGTCTAAAATCTGGA 0.423000 50 83 0 0 0.870114 0 0 LRRC30 339291 broad.mit.edu 37 18 7231916 7231916 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr18:7231916C>T ENST00000383467.2 + 1 794 c.780C>T c.(778-780)atC>atT p.I260I NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 260 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGGTGAGGATCGCCTGGAATC 0.587000 184 224 0 0 0.870114 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348470 89348470 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:89348470G>A ENST00000301030.4 - 9 4940 c.4480C>T c.(4480-4482)Cgg>Tgg p.R1494W ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1494W NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1494 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTGTGATGCCGCAGGAGCTCG 0.647000 21 68 0 0 0.592651 0 0 PLEC 5339 broad.mit.edu 37 8 144994712 144994712 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144994712C>T ENST00000322810.4 - 32 9857 c.9688G>A c.(9688-9690)Gag>Aag p.E3230K PLEC_ENST00000398774.2_Missense_Mutation_p.E3061K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3116K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3071K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3120K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3093K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3079K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3097K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3093K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3230 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCAGCTTCTCATGAAACTCG 0.662000 15 57 0 0 0.500413 0 0 EHD3 30845 broad.mit.edu 37 2 31483527 31483527 + Silent SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:31483527G>C ENST00000322054.5 + 4 939 c.654G>C c.(652-654)ctG>ctC p.L218L EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 218 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GAGTGGTGCTGAACAAAGCTG 0.547000 18 59 0 0 0.557998 0 0 MED13L 23389 broad.mit.edu 37 12 116420250 116420250 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:116420250C>T ENST00000281928.3 - 22 5320 c.5114G>A c.(5113-5115)cGc>cAc p.R1705H NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1705 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGTGTAGCAGCGCATCAAGCT 0.438000 55 82 0 0 0.870114 0 0 ZNF358 140467 broad.mit.edu 37 19 7584188 7584188 + Missense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:7584188A>T ENST00000597229.1 + 2 230 c.60A>T c.(58-60)gaA>gaT p.E20D ZNF358_ENST00000394341.2_Missense_Mutation_p.E20D|CTD-2207O23.12_ENST00000599312.1_3'UTR NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 20 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CCGTTTATGAAGAGCTCGACT 0.582000 81 100 0 0 0.870114 0 0 ZNF317 57693 broad.mit.edu 37 19 9271903 9271903 + Nonsense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:9271903A>T ENST00000247956.6 + 7 1887 c.1582A>T c.(1582-1584)Aaa>Taa p.K528* ZNF317_ENST00000360385.3_Nonsense_Mutation_p.K496* NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CACGGGGGAGAAACCGTACGA 0.557000 14 62 0 0 0.479597 0 0 RELL2 285613 broad.mit.edu 37 5 141019628 141019628 + Silent SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:141019628G>C ENST00000297164.3 + 5 1845 c.645G>C c.(643-645)ggG>ggC p.G215G RELL2_ENST00000521367.1_Silent_p.G149G|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000444782.1_Silent_p.G215G|RELL2_ENST00000518856.1_Silent_p.G149G NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 215 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAGGCAGGGATGCCTGCCA 0.677000 12 30 0 0 0.520397 0 0 CASP10 843 broad.mit.edu 37 2 202050586 202050586 + Nonsense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:202050586C>G ENST00000286186.6 + 2 521 c.86C>G c.(85-87)tCa>tGa p.S29* CASP10_ENST00000313728.7_Nonsense_Mutation_p.S29*|CASP10_ENST00000374650.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000272879.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000346817.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000360132.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Nonsense_Mutation_p.S29* NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 29 DED 1. apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 ATTATTGATTCAAACCTGGGG 0.443000 27 113 0 0 0.681144 0 0 KLHL1 57626 broad.mit.edu 37 13 70413285 70413285 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr13:70413285C>T ENST00000377844.4 - 6 1996 c.1237G>A c.(1237-1239)Gac>Aac p.D413N KLHL1_ENST00000545028.1_Missense_Mutation_p.D220N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 413 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTTTCTAGGTCAGCCAATATC 0.299000 64 77 0 0 0.870114 0 0 PRSS48 345062 broad.mit.edu 37 4 152203446 152203446 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:152203446C>T ENST00000455694.2 + 3 364 c.362C>T c.(361-363)tCc>tTc p.S121F SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 121 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TTGAAACTGTCCTCTCAAGTC 0.498000 46 215 0 0 0.870114 0 0 P2RY1 5028 broad.mit.edu 37 3 152554155 152554155 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:152554155G>A ENST00000305097.3 + 1 1420 c.584G>A c.(583-585)cGc>cAc p.R195H NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 195 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.R195H(2) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACCGGGGTCCGCAAAAACAAA 0.522000 4 165 0 0 0.150653 0 0 HID1 283987 broad.mit.edu 37 17 72955992 72955992 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:72955992C>T ENST00000425042.2 - 8 1069 c.992G>A c.(991-993)cGc>cAc p.R331H NM_030630.2 NP_085133.1 HID1 domain containing ACGATGGATGCGGGACAGGTA 0.627000 5 316 0 0 0.184627 0 0 PLEC 5339 broad.mit.edu 37 8 144998319 144998319 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998319C>G ENST00000322810.4 - 31 6358 c.6189G>C c.(6187-6189)gaG>gaC p.E2063D PLEC_ENST00000398774.2_Missense_Mutation_p.E1894D|PLEC_ENST00000527096.1_Missense_Mutation_p.E1949D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1904D|PLEC_ENST00000436759.2_Missense_Mutation_p.E1953D|PLEC_ENST00000354589.3_Missense_Mutation_p.E1926D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1912D|PLEC_ENST00000357649.2_Missense_Mutation_p.E1930D|PLEC_ENST00000345136.3_Missense_Mutation_p.E1926D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2063 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGCCAGGATCTCCTCCTCCA 0.701000 4 34 0 0 0.150653 0 0 MX1 4599 broad.mit.edu 37 21 42821216 42821216 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr21:42821216G>A ENST00000398600.2 + 16 2451 c.1426G>A c.(1426-1428)Gtg>Atg p.V476M MX1_ENST00000455164.2_Missense_Mutation_p.V476M|MX1_ENST00000398598.3_Missense_Mutation_p.V476M|MX1_ENST00000288383.6_Missense_Mutation_p.V453M NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 476 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GCTACACACCGTGACGGGTGA 0.483000 47 52 0 0 0.870114 0 0 NMRAL1 57407 broad.mit.edu 37 16 4519402 4519402 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:4519402C>T ENST00000574733.1 - 3 834 c.105G>A c.(103-105)gtG>gtA p.V35V NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Silent_p.V35V|NMRAL1_ENST00000283429.6_Silent_p.V35V|NMRAL1_ENST00000574425.1_Silent_p.V35V Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 35 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 GGTTTCGGGTCACCACTCGAA 0.562000 150 328 0 0 0.870114 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338585 13338585 + RNA SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:13338585G>A ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 GTCTTCTGCTGGAGGTTCCTT 0.468000 29 50 0 0 0.750413 0 0 UHRF1 29128 broad.mit.edu 37 19 4932906 4932906 + RNA SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:4932906G>A ENST00000592666.1 + 0 1299 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGTACGACGCGGAGATCTCCA 0.657000 18 50 0 0 0.539581 0 0 VPS13B 157680 broad.mit.edu 37 8 100115242 100115242 + Silent SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:100115242C>G ENST00000395996.1 + 5 585 c.474C>G c.(472-474)ctC>ctG p.L158L VPS13B_ENST00000355155.1_Silent_p.L158L|VPS13B_ENST00000441350.2_Silent_p.L158L|VPS13B_ENST00000358544.2_Silent_p.L158L|VPS13B_ENST00000357162.2_Silent_p.L158L Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 158 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TAAATAATCTCATACTAAAAT 0.308000 30 135 0 0 0.750413 0 0 CXXC5 51523 broad.mit.edu 37 5 139060915 139060915 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:139060915C>T ENST00000302517.3 + 2 1521 c.807C>T c.(805-807)tgC>tgT p.C269C CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.C269C NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 269 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCCCTGCCGGCGGCGCA 0.572000 4 115 0 0 0.184627 0 0 WDR27 253769 broad.mit.edu 37 6 170060767 170060767 + Missense_Mutation SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:170060767T>C ENST00000333572.6 - 10 1640 c.1121A>G c.(1120-1122)tAt>tGt p.Y374C WDR27_ENST00000448612.1_Missense_Mutation_p.Y374C|WDR27_ENST00000423258.1_Missense_Mutation_p.Y247C|WDR27_ENST00000546525.1_5'UTR A2RRH5 WDR27_HUMAN WD repeat domain 27 344 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) ACCCTTGTAATACAAAGCAGC 0.443000 16 49 0 0 0.500413 0 0 PLEC 5339 broad.mit.edu 37 8 144993305 144993305 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144993305C>T ENST00000322810.4 - 32 11264 c.11095G>A c.(11095-11097)Gag>Aag p.E3699K PLEC_ENST00000398774.2_Missense_Mutation_p.E3530K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3585K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3540K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3589K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3562K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3548K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3566K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3562K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3699 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTTCTTGTCTCCTCCTCAGTG 0.637000 50 235 0 0 0.870114 0 0 XKR4 114786 broad.mit.edu 37 8 56015393 56015393 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:56015393C>T ENST00000327381.5 + 1 445 c.345C>T c.(343-345)atC>atT p.I115I NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 115 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GCCTCTGGATCCTGGCCGCCG 0.746000 42 48 0 0 0.864702 0 0 FOCAD 54914 broad.mit.edu 37 9 20986380 20986380 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:20986380G>A ENST00000380249.1 + 42 5186 c.4822G>A c.(4822-4824)Gtg>Atg p.V1608M FOCAD_ENST00000338382.6_Missense_Mutation_p.V1608M|FOCAD_ENST00000605086.1_Missense_Mutation_p.V1044M NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1608 integral to membrane binding GAGCGTTGCTGTGCAGCACCG 0.512000 35 38 0 0 0.788014 0 0 HOXA2 3199 broad.mit.edu 37 7 27140524 27140524 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr7:27140524C>T ENST00000222718.5 - 2 1262 c.952G>A c.(952-954)Gag>Aag p.E318K NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 318 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 GAGGGGACCTCAAGGGCCTCA 0.522000 81 129 0 0 0.870114 0 0 SRBD1 55133 broad.mit.edu 37 2 45789838 45789838 + Missense_Mutation SNP A A T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr2:45789838A>T ENST00000263736.4 - 10 1425 c.1363T>A c.(1363-1365)Tct>Act p.S455T SRBD1_ENST00000535761.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 455 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ACTCCATCAGAAATATTGACC 0.338000 31 130 0 0 0.760397 0 0 NBEAL2 23218 broad.mit.edu 37 3 47037919 47037919 + Silent SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:47037919C>T ENST00000450053.3 + 16 2489 c.2310C>T c.(2308-2310)tcC>tcT p.S770S NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.S770S NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 770 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCTGGGGGTCCGGGCTGGTGG 0.716000 6 11 0 0 0.278610 0 0 PLEC 5339 broad.mit.edu 37 8 144998264 144998264 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998264C>G ENST00000322810.4 - 31 6413 c.6244G>C c.(6244-6246)Gag>Cag p.E2082Q PLEC_ENST00000398774.2_Missense_Mutation_p.E1913Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1968Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1923Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1972Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1931Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1949Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1945Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2082 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCTCCAGCTCCAGCTCCGCC 0.711000 3 27 0 0 0.184627 0 0 KRT78 196374 broad.mit.edu 37 12 53240016 53240016 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:53240016C>T ENST00000359499.4 - 4 402 c.391G>A c.(391-393)Gag>Aag p.E131K KRT78_ENST00000304620.4_Missense_Mutation_p.E241K Q8N1N4 K2C78_HUMAN keratin 78 241 Coil 1A.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TAGAGGTACTCTCTCAGAGCC 0.552000 19 66 0 0 0.608945 0 0 KIAA0556 23247 broad.mit.edu 37 16 27772758 27772758 + Missense_Mutation SNP C C G rs71389807 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:27772758C>G ENST00000261588.4 + 19 3675 c.3656C>G c.(3655-3657)tCc>tGc p.S1219C NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1219 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TTCACTGCCTCCTGGGGAGAC 0.587000 24 140 0 0 0.706142 0 0 LOC647323 647323 broad.mit.edu 37 3 193711898 193711898 + RNA SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:193711898C>T ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 CCATTTGTTCCATATTTGGGT 0.373000 27 50 0 0 0.681144 0 0 SYF2 25949 broad.mit.edu 37 1 25549911 25549911 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:25549911C>T ENST00000236273.4 - 7 603 c.578G>A c.(577-579)cGa>cAa p.R193Q SYF2_ENST00000354361.3_Missense_Mutation_p.R151Q NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 193 catalytic step 2 spliceosome p.R193L(1) kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) ATATTTGTCTCGTTTTTCAAT 0.323000 64 178 0 0 0.870114 0 0 TJP1 7082 broad.mit.edu 37 15 30019044 30019044 + Missense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr15:30019044G>A ENST00000346128.6 - 17 2726 c.2252C>T c.(2251-2253)gCc>gTc p.A751V TJP1_ENST00000400011.2_Missense_Mutation_p.A755V|TJP1_ENST00000545208.2_Missense_Mutation_p.A751V|TJP1_ENST00000356107.6_Missense_Mutation_p.A751V NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 751 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TAACTTCCTGGCACTTTTCCG 0.363000 4 202 0 0 0.184627 0 0 AIP 9049 broad.mit.edu 37 11 67257514 67257514 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:67257514G>C ENST00000279146.3 + 4 592 c.474G>C c.(472-474)gaG>gaC p.E158D AIP_ENST00000525341.1_3'UTR NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 158 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 TGCAGGTGGAGAGCCCTGGCA 0.647000 Familial Isolated Pituitary Adenoma 8 4 0 0 0.278610 0 0 PLEC 5339 broad.mit.edu 37 8 144998529 144998529 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144998529G>A ENST00000322810.4 - 31 6148 c.5979C>T c.(5977-5979)ctC>ctT p.L1993L PLEC_ENST00000398774.2_Silent_p.L1824L|PLEC_ENST00000527096.1_Silent_p.L1879L|PLEC_ENST00000354958.2_Silent_p.L1834L|PLEC_ENST00000436759.2_Silent_p.L1883L|PLEC_ENST00000354589.3_Silent_p.L1856L|PLEC_ENST00000356346.3_Silent_p.L1842L|PLEC_ENST00000357649.2_Silent_p.L1860L|PLEC_ENST00000345136.3_Silent_p.L1856L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1993 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTTCTCCTTGAGCGCGATCT 0.741000 10 19 0 0 0.435327 0 0 ITGA8 8516 broad.mit.edu 37 10 15559213 15559213 + Nonsense_Mutation SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr10:15559213G>A ENST00000378076.3 - 30 3489 c.3136C>T c.(3136-3138)Cag>Tag p.Q1046* NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 1046 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 ATGTCCTCCTGAGGAGGTCTG 0.453000 11 66 0 0 0.411799 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902698 61902698 + Silent SNP G G A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:61902698G>A ENST00000427159.2 - 7 1144 c.499C>T c.(499-501)Ctg>Ttg p.L167L NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 167 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ATCCATAGCAGAGGCTGATAG 0.532000 7 113 0 0 0.278610 0 0 CUL9 23113 broad.mit.edu 37 6 43152613 43152613 + Missense_Mutation SNP A A G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:43152613A>G ENST00000252050.4 + 2 649 c.565A>G c.(565-567)Atg>Gtg p.M189V CUL9_ENST00000372647.2_Missense_Mutation_p.M189V|CUL9_ENST00000354495.3_Missense_Mutation_p.M189V NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 189 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TGCAGGCAAAATGCTGCAGGC 0.567000 16 28 0 0 0.520397 0 0 GPD1 2819 broad.mit.edu 37 12 50500210 50500210 + Splice_Site SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:50500210G>C ENST00000301149.3 + 4 731 c.e4+1 GPD1_ENST00000547190.1_Splice_Site|GPD1_ENST00000548814.1_Splice_Site NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) ACAACCATTGGTGAGAGCCCC 0.567000 15 49 0 0 0.479597 0 0 GDPD3 79153 broad.mit.edu 37 16 30122798 30122798 + Nonsense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:30122798C>T ENST00000406256.3 - 7 995 c.618G>A c.(616-618)tgG>tgA p.W206* NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 206 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 AAAGCAGCACCCAGAATCCTC 0.557000 99 229 0 0 0.870114 0 0 KCNA1 3736 broad.mit.edu 37 12 5021957 5021957 + Silent SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:5021957C>G ENST00000382545.3 + 2 2520 c.1413C>G c.(1411-1413)gtC>gtG p.V471V KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 471 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATAGACAGGTCAATATCAGAA 0.413000 40 231 0 0 0.853193 0 0 PRPF31 26121 broad.mit.edu 37 19 54621975 54621975 + Missense_Mutation SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr19:54621975T>C ENST00000321030.4 + 3 549 c.200T>C c.(199-201)aTt>aCt p.I67T PRPF31_ENST00000419967.1_Missense_Mutation_p.I67T|PRPF31_ENST00000391755.1_Missense_Mutation_p.I67T NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 67 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ATGATGAAGATTGAGGAGTAT 0.512000 40 215 0 0 0.819951 0 0 AVPR1A 552 broad.mit.edu 37 12 63541363 63541363 + Missense_Mutation SNP G G T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:63541363G>T ENST00000299178.2 - 2 1138 c.1033C>A c.(1033-1035)Ccc>Acc p.P345T NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 345 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TATATCCAGGGATTACAGCAG 0.388000 70 109 1.34568e-36 1.50691e-36 0.870114 1 0 COL24A1 255631 broad.mit.edu 37 1 86499564 86499564 + Missense_Mutation SNP C C A TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:86499564C>A ENST00000370571.2 - 13 2359 c.1993G>T c.(1993-1995)Gat>Tat p.D665Y COL24A1_ENST00000436319.1_Missense_Mutation_p.D665Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 665 Collagen-like 3. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GGACTGCCATCAAGACCAGCA 0.403000 9 35 4.68919e-08 4.99769e-08 0.361761 1 0 DHX36 170506 broad.mit.edu 37 3 154018467 154018467 + Silent SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr3:154018467T>C ENST00000496811.1 - 11 1457 c.1377A>G c.(1375-1377)gtA>gtG p.V459V DHX36_ENST00000544526.1_Silent_p.V459V|DHX36_ENST00000329463.5_Silent_p.V459V|DHX36_ENST00000308361.6_Silent_p.V459V NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 459 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTATAACATCTACAGTACTTG 0.303000 42 94 0 0 0.834066 0 0 BCL9 607 broad.mit.edu 37 1 147094302 147094302 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:147094302C>T ENST00000234739.3 + 9 3873 c.3133C>T c.(3133-3135)Ccc>Tcc p.P1045S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1045 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AGCTCGTTCTCCCAACTTGCC 0.478000 T """IGH@, IGL@""" B-ALL 71 105 0 0 0.870114 0 0 TM7SF3 51768 broad.mit.edu 37 12 27148270 27148270 + Missense_Mutation SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:27148270T>C ENST00000343028.4 - 5 815 c.590A>G c.(589-591)tAt>tGt p.Y197C TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 197 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) AAAATACTGATAGACATCATA 0.507000 49 59 0 0 0.870114 0 0 CABS1 85438 broad.mit.edu 37 4 71201658 71201658 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr4:71201658G>C ENST00000273936.4 + 1 961 c.902G>C c.(901-903)aGa>aCa p.R301T NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 301 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGGATGGAGAGAGATACTGCA 0.423000 20 84 0 0 0.624587 0 0 ODF2 4957 broad.mit.edu 37 9 131261346 131261346 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr9:131261346G>C ENST00000303890.5 + 22 2755 c.2170G>C c.(2170-2172)Gag>Cag p.E724Q ODF2_ENST00000351030.3_Missense_Mutation_p.E743Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E724Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E748Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E743Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E748Q NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 748 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CCTGGACCTTGAGACCCAGCT 0.577000 39 134 0 0 0.804634 0 0 PPIEL 728448 broad.mit.edu 37 1 40007445 40007447 + RNA DEL ATA ATA - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr1:40007445_40007447delATA ENST00000440190.1 - 0 455 RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA GAACTGGGGGATAATGCGGTGGA 0.448 12 13 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176637167 176637168 + Frame_Shift_Del DEL TT TT - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr5:176637167_176637168delTT ENST00000439151.2 + 5 1812_1813 c.1767_1768delTT c.(1765-1770)tctafs p.SL589fs NSD1_ENST00000354179.4_Frame_Shift_Del_p.SL320fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SL320fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.SL486fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 589 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATGGTGACTCTTTATTGGGCTT 0.446 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 76 84 --- --- --- --- RFPL4B 442247 broad.mit.edu 37 6 112671535 112671536 + Frame_Shift_Ins INS - - T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr6:112671535_112671536insT ENST00000441065.2 + 3 937_938 c.625_626insT c.(625-627)tttfs p.F209fs NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 209 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CCGTGTGGGAATTTTCCTGGAT 0.465 30 116 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144996072 144996073 + Frame_Shift_Ins INS - - T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr8:144996072_144996073insT ENST00000322810.4 - 32 8496_8497 c.8327_8328insA c.(8326-8328)ggcfs p.G2776fs PLEC_ENST00000398774.2_Frame_Shift_Ins_p.G2607fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.G2617fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.G2662fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.G2643fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.G2666fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.G2625fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2776 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCGGCTCTGCCTCTGCCGCGGG 0.688 9 35 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 18 23 --- --- --- --- KRTAP5-7 440050 broad.mit.edu 37 11 71238513 71238542 + In_Frame_Del DEL GCTGTGGCTCCTGTGGGGGCTCCAAGGGAG GCTGTGGCTCCTGTGGGGGCTCCAAGGGAG - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:71238513_71238542delGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG ENST00000398536.4 + 1 201_230 c.167_196delGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG c.(166-198)agc>a p.SCGSCGGSKGG56del NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 56 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGAGGCTGTGGCTC 0.652 21 515 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 7 127 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 10 756 --- --- --- --- WWOX 51741 broad.mit.edu 37 16 78466606 78466607 + Frame_Shift_Del DEL AC AC - TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr16:78466606_78466607delAC ENST00000566780.1 + 8 1379_1380 c.1013_1014delAC c.(1012-1014)tfs p.Y338fs WWOX_ENST00000408984.3_Frame_Shift_Del_p.Y338fs|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 338 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TGGTGGGTGTACACACTGCTGT 0.554 8 611 --- --- --- --- LRRC37BP1 147172 broad.mit.edu 37 17 28959144 28959145 + RNA INS - - A rs55960724 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr17:28959144_28959145insA ENST00000417404.1 + 0 5_6 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA CAAAATATTTGAAAAAAAAATT 0.406 7 25 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 543bbfe3-4a11-49af-b445-303f0912bfc3 293094ab-5bd2-49ba-b9cc-04bb1b9f2709 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 6 9 --- --- --- ---