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 CA7 766 broad.mit.edu 37 16 66884515 66884515 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:66884515G>A ENST00000394069.3 + 3 573 c.142G>A c.(142-144)Gat>Aat p.D48N RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Missense_Mutation_p.D104N NM_001014435.1 NP_001014435.1 P43166 CAH7_HUMAN carbonic anhydrase VII 104 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CAAGAAGCACGATGTGGGTTC 0.617000 40 48 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283220 69283220 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:69283220C>T ENST00000338352.2 + 1 880 c.846C>T c.(844-846)ggC>ggT p.G282G NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 282 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CCGCCGGGGGCGTGCTCCCGC 0.642000 9 0 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98924593 98924593 + Nonsense_Mutation SNP G G C rs149092674 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:98924593G>C ENST00000453547.2 - 12 1528 c.1529C>G c.(1528-1530)tCa>tGa p.S510* SLIT1_ENST00000371041.3_Silent_p.L84L|SLIT1_ENST00000266058.4_Silent_p.L84L|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Silent_p.L84L GCAGCTGCTTGAGCCCCGCAA 0.607000 78 78 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280695 17280695 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:17280695G>C ENST00000331428.5 - 3 657 c.555C>G c.(553-555)atC>atG p.I185M NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 185 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TAGTGAGACTGATATACATCT 0.368000 63 82 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11221357 11221357 + Missense_Mutation SNP G G T rs72658860 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:11221357G>T ENST00000558518.1 + 7 1157 c.970G>T c.(970-972)Ggc>Tgc p.G324C LDLR_ENST00000535915.1_Missense_Mutation_p.G283C|LDLR_ENST00000557933.1_Missense_Mutation_p.G324C|LDLR_ENST00000455727.2_Missense_Mutation_p.G156C|LDLR_ENST00000558013.1_Missense_Mutation_p.G324C|LDLR_ENST00000545707.1_Missense_Mutation_p.G197C NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 324 EGF-like 1. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CAACAACGGCGGCTGTTCCCA 0.627000 61 86 5.73332e-34 6.26665e-34 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535308 27535308 + RNA SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:27535308G>T ENST00000574842.1 + 0 255 GATGACCATCGGTGAGAATAA 0.393000 4 22 0.00909568 0.00913455 1 1 0 MECR 51102 broad.mit.edu 37 1 29528511 29528511 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:29528511C>G ENST00000373791.3 - 6 844 c.472G>C c.(472-474)Gag>Cag p.E158Q MECR_ENST00000263702.6_Missense_Mutation_p.E234Q NM_001024732.1|NM_016011.2 NP_001019903|NP_057095.3 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 234 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) ATGACATGCTCAGCCCCCAGA 0.498000 52 214 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123683829 123683829 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:123683829G>A ENST00000369043.3 - 2 208 c.122C>T c.(121-123)tCc>tTc p.S41F ATE1_ENST00000224652.6_Missense_Mutation_p.S41F|ATE1_ENST00000540606.1_Missense_Mutation_p.S34F|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_5'UTR NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 41 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TACTGTCATGGAATGTGCCCA 0.383000 50 54 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144921878 144921878 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:144921878T>C ENST00000529945.1 - 5 2079 c.1640A>G c.(1639-1641)cAc>cGc p.H547R PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H450R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H521R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H521R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H547R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H384R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H171R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H384R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H384R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H384R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 384 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCACTCTCGTGTGCTGCAGC 0.438000 T PDGFRB MPD 130 494 0 0 1 0 0 EFCC1 79825 broad.mit.edu 37 3 128755962 128755962 + Splice_Site SNP T T A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:128755962T>A ENST00000436022.2 + 6 1590 c.e6+2 EFCC1_ENST00000480450.1_Splice_Site NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 CGGGACCTGGTAGGCTCACGG 0.627000 11 20 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215155 141215155 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:141215155C>T ENST00000389484.3 - 61 10662 c.9691G>A c.(9691-9693)Gat>Aat p.D3231N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3231 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTTTCCCATCAGTCCAGTAG 0.433000 TSP Lung(27;0.18) 66 73 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20844402 20844402 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:20844402C>G ENST00000261377.6 + 13 1549 c.1340C>G c.(1339-1341)tCt>tGt p.S447C AC004381.6_ENST00000348433.6_Missense_Mutation_p.S447C|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.S447C NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 GAACTTCCATCTTCCAGAAAT 0.408000 23 31 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208006 58208006 + Silent SNP C C T rs145861936 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:58208006C>T ENST00000377918.3 + 1 1352 c.1326C>T c.(1324-1326)atC>atT p.I442I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 442 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACGTGACCATCGTGGCGCGGG 0.597000 35 40 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2178046 2178046 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:2178046C>G ENST00000511885.2 - 9 1548 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E399Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 399 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTCAGGTTCTCACGTACATTC 0.378000 DNA polymerases (catalytic subunits) 50 61 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475104 42475104 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:42475104G>A ENST00000434000.1 - 9 4389 c.4107C>T c.(4105-4107)atC>atT p.I1369I GPATCH8_ENST00000591680.1_Silent_p.I1447I Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1447 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCCCAGGATGGATGGCTGAGG 0.602000 16 38 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145582012 145582012 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:145582012C>T ENST00000331890.5 - 1 160 c.96G>A c.(94-96)ccG>ccA p.P32P FBXL6_ENST00000455319.2_Silent_p.P32P NM_012162.2 NP_036294.2 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 32 F-box. proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCGAGCCCCTCGGCGCCAGCC 0.776000 8 6 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41525889 41525889 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:41525889C>T ENST00000396942.1 - 39 5373 c.5290G>A c.(5290-5292)Gaa>Aaa p.E1764K ANK1_ENST00000396945.1_Missense_Mutation_p.E1764K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1764K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1764K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1764K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1764K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1805K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1764 55 kDa regulatory domain. 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 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) TCGGGCTGTTCTGTCCACGTG 0.587000 41 29 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1677508 1677508 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:1677508C>T ENST00000252804.4 - 9 975 c.925G>A c.(925-927)Gag>Aag p.E309K PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 309 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGTCTGTCTCCTGTGTGTTC 0.517000 97 78 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349156 89349156 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:89349156G>A ENST00000301030.4 - 9 4254 c.3794C>T c.(3793-3795)tCc>tTc p.S1265F ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1265F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1265 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) CCTCTCCTTGGAATGTTCTTT 0.468000 31 33 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106982927 106982927 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:106982927G>A ENST00000369701.3 + 20 3015 c.2788G>A c.(2788-2790)Gag>Aag p.E930K SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 930 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) AAGAAATAAGGAGGTCAACAT 0.448000 84 94 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52509545 52509545 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:52509545A>G ENST00000216286.5 - 6 1533 c.1534T>C c.(1534-1536)Tgc>Cgc p.C512R NID2_ENST00000541773.1_Missense_Mutation_p.C459R NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 512 EGF-like 1. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TTGGATTGGCAGTGGCAGCAG 0.507000 32 43 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12443125 12443125 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:12443125G>C ENST00000358136.3 + 58 11411 c.11281G>C c.(11281-11283)Gaa>Caa p.E3761Q VPS13D_ENST00000356315.4_Missense_Mutation_p.E3736Q|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3760 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGTTCCACCTGAACAACAATT 0.433000 50 49 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145739392 145739392 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:145739392C>T ENST00000428558.2 - 12 2019 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 660 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCAGGCTCTTCAGCCACAGCC 0.657000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 5 6 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131915384 131915384 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:131915384C>T ENST00000403834.3 - 23 3278 c.3105G>A c.(3103-3105)gcG>gcA p.A1035A MED23_ENST00000368068.3_Silent_p.A1029A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Silent_p.A1035A|MED23_ENST00000368060.3_Silent_p.A1029A|MED23_ENST00000368058.1_Silent_p.A1035A|MED23_ENST00000545957.1_Silent_p.A670A Q9ULK4 MED23_HUMAN mediator complex subunit 23 1029 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AGCCAATGATCGCATGGACGA 0.468000 29 81 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71941313 71941313 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:71941313G>T ENST00000298229.2 + 9 1292 c.1088G>T c.(1087-1089)cGc>cTc p.R363L INPPL1_ENST00000538751.1_Missense_Mutation_p.R121L|INPPL1_ENST00000541756.1_Missense_Mutation_p.R121L NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 363 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACGCACGACCGCAGTGAGCCA 0.692000 17 27 4.7546e-09 4.92217e-09 1 1 0 ARSH 347527 broad.mit.edu 37 X 2936713 2936713 + Splice_Site SNP T T G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:2936713T>G ENST00000381130.2 + 5 901 c.e5+2 NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GGATGGTGGGTAAGTATTCAG 0.408000 25 0 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7886665 7886665 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:7886665G>C ENST00000377532.3 + 16 2307 c.2083G>C c.(2083-2085)Gag>Cag p.E695Q RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.E687Q P56645 PER3_HUMAN period circadian clock 3 687 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCAGAAGGAAGAGCAGAATTA 0.478000 20 34 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11300726 11300726 + Translation_Start_Site SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:11300726G>A ENST00000397056.1 + 3 194 c.3G>A c.(1-3)atG>atA p.M1I HRH1_ENST00000438284.2_Start_Codon_SNP_p.M1I|HRH1_ENST00000431010.2_Start_Codon_SNP_p.M1I NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 1 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TTGCGCCAATGAGCCTCCCCA 0.542000 22 20 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15629085 15629085 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:15629085G>A ENST00000281513.5 - 12 1041 c.1016C>T c.(1015-1017)tCa>tTa p.S339L NBAS_ENST00000441750.1_Missense_Mutation_p.S339L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 339 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CAGTTTCCCTGAGAAGTGAAT 0.453000 50 70 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931522 144931522 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:144931522G>A ENST00000529945.1 - 1 626 c.187C>T c.(187-189)Cga>Tga p.R63* PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R63*|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTGTCGAATCGATAGATTCGA 0.512000 T PDGFRB MPD 54 171 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839626 100839626 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:100839626A>G ENST00000223114.4 - 6 879 c.713T>C c.(712-714)tTt>tCt p.F238S MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.F238S NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 238 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CTTAAGTCTAAAGATGTCATT 0.577000 29 27 0 0 1 0 0 KLHL17 339451 broad.mit.edu 37 1 897011 897011 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:897011G>A ENST00000338591.3 + 3 477 c.370G>A c.(370-372)Gag>Aag p.E124K NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 124 BTB. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCCGCAGATGAGATGAGCGA 0.637000 12 43 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 972046 972046 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:972046C>G ENST00000263620.3 + 9 2090 c.1763C>G c.(1762-1764)tCa>tGa p.S588* NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 588 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACATCTACCTCAAATAACTCG 0.706000 12 17 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713952 183713952 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:183713952C>G ENST00000511685.1 + 26 6250 c.6127C>G c.(6127-6129)Ctg>Gtg p.L2043V TENM3_ENST00000406950.2_Missense_Mutation_p.L2043V teneurin transmembrane protein 3 GCCTATTGATCTGTATCAGTT 0.388000 59 73 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57311165 57311165 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:57311165G>A ENST00000457912.1 + 3 855 c.855G>A c.(853-855)gtG>gtA p.V285V SMTNL1_ENST00000527972.1_Silent_p.V267V|SMTNL1_ENST00000399154.2_Silent_p.V230V E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 267 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGGCAGGGGTGATTCCCAGCT 0.627000 10 7 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324432 9324432 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:9324432C>G ENST00000377403.2 + 5 2182 c.1880C>G c.(1879-1881)tCa>tGa p.S627* H6PD_ENST00000602477.1_Nonsense_Mutation_p.S638* NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 627 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GTCCCACTCTCAGACCCGGAG 0.667000 12 50 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89651946 89651946 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:89651946G>C ENST00000268720.5 + 8 1021 c.891G>C c.(889-891)gaG>gaC p.E297D CPNE7_ENST00000319518.8_Missense_Mutation_p.E222D NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 297 C2 2. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GCTGCGAGGAGACAAGGCCTC 0.647000 11 8 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687270 21687270 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:21687270C>A ENST00000398485.2 + 2 535 c.481C>A c.(481-483)Ctg>Atg p.L161M PAX1_ENST00000444366.2_Missense_Mutation_p.L137M|PAX1_ENST00000460221.1_Intron NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 161 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.L67V(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGGCTCCATTCTGCCCGGGGC 0.647000 40 174 1.62957e-23 1.75263e-23 1 1 0 ACSL5 51703 broad.mit.edu 37 10 114169417 114169417 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:114169417G>A ENST00000393081.1 + 7 992 c.685G>A c.(685-687)Gag>Aag p.E229K ACSL5_ENST00000354655.4_Missense_Mutation_p.E229K|ACSL5_ENST00000354273.4_Missense_Mutation_p.E229K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E285K|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000433418.1_Missense_Mutation_p.E229K NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 229 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GAGTGGAATTGAGATCTTATC 0.468000 28 117 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135920593 135920593 + Missense_Mutation SNP T T G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:135920593T>G ENST00000264158.8 + 22 2571 c.2528T>G c.(2527-2529)aTt>aGt p.I843S RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I843S|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I799S NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 843 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GAAGCTCTCATTGCCAGAGCT 0.418000 75 79 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45132940 45132940 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:45132940G>T ENST00000296129.1 - 7 1852 c.1718C>A c.(1717-1719)tCt>tAt p.S573Y NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 573 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CCAGGACACAGAGGTGAGGGA 0.602000 16 11 2.23348e-06 2.292e-06 1 1 0 IFIH1 64135 broad.mit.edu 37 2 163167353 163167353 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:163167353G>A ENST00000263642.2 - 2 939 c.544C>T c.(544-546)Ctg>Ttg p.L182L IFIH1_ENST00000421365.2_Silent_p.L182L NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 182 CARD 2. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 AGAACATTCAGAAATGCAGAG 0.383000 20 13 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710707 140710707 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140710707C>G ENST00000517417.1 + 1 456 c.456C>G c.(454-456)gtC>gtG p.V152V PCDHGA1_ENST00000378105.3_Silent_p.V152V NM_018912.2 NP_061735.1 p.V152V(1) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCAGAGTCTCATTGCCTT 0.428000 78 85 0 0 1 0 0 PITHD1 57095 broad.mit.edu 37 1 24106426 24106426 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:24106426G>A ENST00000246151.4 + 3 426 c.315G>A c.(313-315)atG>atA p.M105I NM_020362.4 NP_065095.2 Q9GZP4 PITH1_HUMAN PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 105 PITH. haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 6 CCTCTGAGATGAGACTGTAAG 0.428000 23 33 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1801111 1801111 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:1801111G>A ENST00000340107.4 + 3 496 c.240G>A c.(238-240)ggG>ggA p.G80G FGFR3_ENST00000352904.1_Silent_p.G80G|FGFR3_ENST00000412135.2_Silent_p.G80G|FGFR3_ENST00000260795.2_Silent_p.G80G|FGFR3_ENST00000440486.2_Silent_p.G80G|FGFR3_ENST00000481110.2_Silent_p.G80G NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 80 Ig-like C2-type 1. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ATGGCACAGGGCTGGTGCCCT 0.701000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 23 33 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97181762 97181762 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:97181762C>G ENST00000371247.2 - 8 586 c.397G>C c.(397-399)Ggc>Cgc p.G133R SORBS1_ENST00000371246.2_Missense_Mutation_p.G133R|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Missense_Mutation_p.G133R|SORBS1_ENST00000277982.5_Missense_Mutation_p.G133R|SORBS1_ENST00000347291.4_Missense_Mutation_p.G124R|SORBS1_ENST00000371227.4_Missense_Mutation_p.G133R|SORBS1_ENST00000371249.2_Missense_Mutation_p.G101R|SORBS1_ENST00000607232.1_Missense_Mutation_p.G101R|SORBS1_ENST00000361941.3_Missense_Mutation_p.G133R|SORBS1_ENST00000354106.3_Missense_Mutation_p.G124R|SORBS1_ENST00000371239.1_Missense_Mutation_p.G101R|SORBS1_ENST00000371245.3_Missense_Mutation_p.G133R|SORBS1_ENST00000306402.6_Missense_Mutation_p.G133R|SORBS1_ENST00000371241.1_Missense_Mutation_p.G92R|SORBS1_ENST00000393949.1_Missense_Mutation_p.G124R Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 133 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTTCTGTAGCCCTTGGCAGCG 0.527000 17 16 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91177707 91177707 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:91177707G>A ENST00000371795.4 + 2 964 c.751G>A c.(751-753)Gtc>Atc p.V251I IFIT5_ENST00000416601.1_Missense_Mutation_p.V203I NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 251 binding endometrium(1)|large_intestine(4)|lung(4) 9 CCAGCCTTACGTCCTTCGTTA 0.408000 66 42 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74594514 74594514 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:74594514C>G ENST00000361874.3 - 19 2535 c.2218G>C c.(2218-2220)Gag>Cag p.E740Q DCTN1_ENST00000409438.1_Missense_Mutation_p.E606Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.E733Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.E703Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.E720Q|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.E606Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.E723Q NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 740 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GTACAGTCCTCAGGCTGTTCG 0.527000 21 23 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55591271 55591271 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:55591271C>G ENST00000373965.2 - 31 4421 c.4027G>C c.(4027-4029)Gat>Cat p.D1343H PCDH15_ENST00000409834.1_Missense_Mutation_p.D947H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1299H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1336H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1343H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1336H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1314H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1336H|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1336H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1341H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1265H NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1336 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.D1336Y(4)|p.D1341Y(4) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTATTGATATCAAGTAGTTTG 0.353000 HNSCC(58;0.16) 22 27 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7600833 7600833 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:7600833G>A ENST00000221249.6 + 4 473 c.42G>A c.(40-42)atG>atA p.M14I PNPLA6_ENST00000600737.1_Missense_Mutation_p.M53I|CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000414982.3_Missense_Mutation_p.M62I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.M14I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.M14I NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 53 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TTGGCGTGATGATCGGGGCCG 0.701000 3 10 0 0 1 0 0 MROH7-TTC4 100527960 broad.mit.edu 37 1 55148378 55148378 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:55148378G>A ENST00000414150.2 + 14 2709 c.2431G>A c.(2431-2433)Gat>Aat p.D811N MROH7_ENST00000454855.2_Missense_Mutation_p.D329N|MROH7_ENST00000409996.1_Missense_Mutation_p.D379N|MROH7_ENST00000545244.1_Missense_Mutation_p.D379N|MROH7_ENST00000339553.5_Missense_Mutation_p.D811N|MROH7_ENST00000421030.2_Missense_Mutation_p.D811N|MROH7_ENST00000395690.2_Missense_Mutation_p.D811N GCCCAGCTGTGATGTCCGAGA 0.612000 59 64 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53619628 53619628 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53619628G>A ENST00000594011.1 - 4 332 c.74C>T c.(73-75)tCt>tTt p.S25F ZNF415_ENST00000455735.2_Silent_p.L4L|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000599261.1_Missense_Mutation_p.S25F|ZNF415_ENST00000600574.1_Missense_Mutation_p.S25F|ZNF415_ENST00000595813.1_Missense_Mutation_p.S25F|ZNF415_ENST00000597748.1_Missense_Mutation_p.S25F|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000595193.1_Missense_Mutation_p.S25F|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.S25F|ZNF415_ENST00000448501.1_Silent_p.L4L|ZNF415_ENST00000597503.1_Missense_Mutation_p.S25F|ZNF415_ENST00000500065.4_Missense_Mutation_p.S25F|ZNF415_ENST00000421033.1_Silent_p.L4L Q09FC8 ZN415_HUMAN zinc finger protein 415 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CCTCTGTGTAGAGTTCAGGCA 0.433000 71 102 0 0 1 0 0 BST1 683 broad.mit.edu 37 4 15709241 15709241 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:15709241G>C ENST00000382346.3 + 4 517 c.468G>C c.(466-468)ttG>ttC p.L156F BST1_ENST00000265016.4_Missense_Mutation_p.L141F Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 141 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 CAGATTTCTTGAGCTGGTGTC 0.443000 49 59 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96398772 96398772 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:96398772C>G ENST00000359246.4 + 3 631 c.264C>G c.(262-264)ctC>ctG p.L88L PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 88 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GCAGCCAGCTCTTCATCAAGG 0.622000 12 0 0 0 1 0 0 POLM 27434 broad.mit.edu 37 7 44121923 44121923 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:44121923T>C ENST00000242248.5 - 1 216 c.115A>G c.(115-117)Atg>Gtg p.M39V POLM_ENST00000395831.3_Missense_Mutation_p.M39V|POLM_ENST00000335195.6_Missense_Mutation_p.M39V NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 39 BRCT. DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CTGCGACCCATGCGAGGCTCG 0.756000 DNA polymerases (catalytic subunits) 6 12 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83905817 83905817 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:83905817T>C ENST00000340417.3 - 2 558 c.181A>G c.(181-183)Att>Gtt p.I61V LIN54_ENST00000510557.1_Intron|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.I61V|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.I61V|LIN54_ENST00000506560.1_Missense_Mutation_p.I61V|LIN54_ENST00000395283.2_Missense_Mutation_p.I61V NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 61 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) TCCGTGGAAATGGGCGTGGCT 0.418000 48 61 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2740730 2740730 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr18:2740730C>T ENST00000320876.6 + 28 3882 c.3544C>T c.(3544-3546)Cag>Tag p.Q1182* RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q1182* NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1182 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GTACGGAAATCAGATTCAAGC 0.299000 16 47 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45462069 45462069 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:45462069C>G ENST00000303230.4 - 3 947 c.890G>C c.(889-891)aGa>aCa p.R297T NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 297 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATTAAAAATTCTCACCACTGC 0.398000 24 16 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108489210 108489210 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:108489210G>A ENST00000408999.3 + 20 4827 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1584K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1584 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TAACAACAGTGAAACTAGTTC 0.368000 181 176 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56300270 56300270 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:56300270C>G ENST00000443188.1 - 11 3468 c.2758G>C c.(2758-2760)Gaa>Caa p.E920Q NLRP11_ENST00000589093.1_Missense_Mutation_p.E920Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.E866Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.E821Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.E866Q NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 920 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTGAGTCTTTCTAGTGTTTTG 0.448000 12 69 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53237983 53237983 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:53237983G>A ENST00000359499.4 - 6 622 c.611C>T c.(610-612)tCt>tTt p.S204F KRT78_ENST00000304620.4_Missense_Mutation_p.S314F Q8N1N4 K2C78_HUMAN keratin 78 314 Coil 1B.|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 AAGCTGGGCAGACACCTGAAG 0.517000 47 78 0 0 1 0 0 NDUFA13 51079 broad.mit.edu 37 19 19626891 19626891 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:19626891C>T ENST00000252576.5 + 1 93 c.93C>T c.(91-93)gtC>gtT p.V31V NDUFA13_ENST00000507754.4_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 TACCCAGGGTCCGCCGCCAGA 0.607000 24 60 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6604980 6604980 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:6604980C>G ENST00000377705.5 - 5 915 c.883G>C c.(883-885)Gaa>Caa p.E295Q NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 295 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) CCATCTACTTCTTCTGAATGG 0.408000 45 50 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34112007 34112007 + Splice_Site SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:34112007A>G ENST00000389232.4 + 77 10827 c.10757A>G c.(10756-10758)aAg>aGg p.K3586R RYR3_ENST00000415757.3_Splice_Site_p.K3581R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3586 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATGATGGCCAAGGTACACCCA 0.413000 283 162 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231471482 231471482 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:231471482C>T ENST00000366645.1 - 1 2116 c.1998G>A c.(1996-1998)aaG>aaA p.K666K EXOC8_ENST00000360394.2_Silent_p.K670K Q8IYI6 EXOC8_HUMAN exocyst complex component 8 670 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TAAAAGCTTTCTTCTCTGGAT 0.448000 145 43 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152287839 152287839 + Missense_Mutation SNP C C G rs114733570 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:152287839C>G ENST00000368799.1 - 2 129 c.94G>C c.(94-96)Gag>Cag p.E32Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 32 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTCAGCTCTTTTTTACTC 0.338000 Ichthyosis 32 123 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201052309 201052309 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:201052309G>A ENST00000362061.3 - 10 1600 c.1374C>T c.(1372-1374)ctC>ctT p.L458L CACNA1S_ENST00000367338.3_Silent_p.L458L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 458 L -> H (in dbSNP:rs12742169). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGTCAGCCAGAGAGGCTGGT 0.562000 8 77 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115454166 115454166 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:115454166G>C ENST00000369522.3 + 18 1732 c.1492G>C c.(1492-1494)Gag>Cag p.E498Q SYCP1_ENST00000369518.1_Missense_Mutation_p.E498Q NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 498 IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATTCAAAAGAGGTTAAAGA 0.289000 21 16 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111212 55111212 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:55111212T>C ENST00000314721.2 + 1 586 c.536T>C c.(535-537)aTg>aCg p.M179T NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GTCTGTGACATGTACCCATTG 0.433000 84 128 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80847412 80847412 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:80847412C>G ENST00000533983.1 + 12 1402 c.1063C>G c.(1063-1065)Ctg>Gtg p.L355V ARNT2_ENST00000303329.4_Missense_Mutation_p.L366V|ARNT2_ENST00000527771.1_Missense_Mutation_p.L355V|RP11-379K22.2_ENST00000558208.1_RNA Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 366 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TTAGGATCTTCTGGGAAAGGA 0.403000 111 55 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72776125 72776125 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr18:72776125G>A ENST00000299687.5 + 8 6448 c.6448G>A c.(6448-6450)Gag>Aag p.E2150K NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 2150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGTGACGGAGGAGCTGGTCCA 0.662000 6 6 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27679633 27679633 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:27679633G>T ENST00000525528.1 - 1 1572 c.479C>A c.(478-480)tCg>tAg p.S160* BDNF_ENST00000356660.4_Nonsense_Mutation_p.S160*|BDNF_ENST00000533246.1_Nonsense_Mutation_p.S160*|BDNF_ENST00000530861.1_Nonsense_Mutation_p.S160*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.S160*|BDNF_ENST00000525950.1_Nonsense_Mutation_p.S160*|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000532997.1_Nonsense_Mutation_p.S160*|BDNF_ENST00000395981.3_Nonsense_Mutation_p.S160*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.S160*|BDNF_ENST00000395986.2_Nonsense_Mutation_p.S175*|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Nonsense_Mutation_p.S160*|BDNF_ENST00000420794.1_Nonsense_Mutation_p.S160*|BDNF_ENST00000395978.3_Nonsense_Mutation_p.S160*|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000418212.1_Nonsense_Mutation_p.S160*|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000438929.1_Nonsense_Mutation_p.S242*|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Nonsense_Mutation_p.S160*|BDNF_ENST00000314915.6_Nonsense_Mutation_p.S168*|BDNF-AS_ENST00000500662.2_RNA NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 160 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CGTCCCGCCCGACATGTCCAC 0.542000 96 103 2.68873e-43 2.95258e-43 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34148766 34148766 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:34148766G>C ENST00000346193.3 - 1 1681 c.1630C>G c.(1630-1632)Cgc>Ggc p.R544G NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 544 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGCTCCGGGCGGAGACTGGAC 0.637000 67 2 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7724658 7724658 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:7724658G>A ENST00000572933.1 + 73 12573 c.11113G>A c.(11113-11115)Gaa>Aaa p.E3705K DNAH2_ENST00000389173.2_Missense_Mutation_p.E3705K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3705 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAACATGGATGAATACAACTT 0.493000 26 2 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105128017 105128017 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:105128017C>T ENST00000369839.3 + 1 294 c.271C>T c.(271-273)Ccg>Tcg p.P91S TAF5_ENST00000351396.4_Missense_Mutation_p.P91S NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 91 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CGCCGGCGCTCCGCATGACCG 0.751000 5 5 0 0 1 0 0 FECH 2235 broad.mit.edu 37 18 55226416 55226416 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr18:55226416C>T ENST00000262093.5 - 7 916 c.765G>A c.(763-765)gaG>gaA p.E255E FECH_ENST00000382873.3_Silent_p.E261E NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 255 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) GAATGACCACCTCGCTTCTCT 0.418000 37 49 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668842 53668842 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53668842G>C ENST00000600412.1 - 2 821 c.706C>G c.(706-708)Caa>Gaa p.Q236E ZNF665_ENST00000396424.3_Missense_Mutation_p.Q301E Q9H7R5 ZN665_HUMAN zinc finger protein 665 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGTGAATTTTGAGTGAAGCAC 0.423000 53 119 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362683 9362683 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:9362683C>G ENST00000456448.1 + 1 1078 c.964C>G c.(964-966)Ctg>Gtg p.L322V NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CCTGTGCAGGCTGCATGGCAG 0.468000 26 37 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8471022 8471022 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:8471022C>G ENST00000381196.4 - 28 4020 c.3477G>C c.(3475-3477)gaG>gaC p.E1159D PTPRD_ENST00000356435.5_Missense_Mutation_p.E1159D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E738D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E745D|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1146D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E745D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1137D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E748D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E748D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E738D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1159D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1159 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CATCTGGACTCTCCCATGGCT 0.398000 TSP Lung(15;0.13) 47 53 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 23 18 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88479849 88479849 + Silent SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:88479849T>C ENST00000552810.1 - 34 4747 c.4404A>G c.(4402-4404)ctA>ctG p.L1468L CEP290_ENST00000397838.3_Silent_p.L528L|CEP290_ENST00000309041.7_Silent_p.L1470L|CEP290_ENST00000547691.2_Silent_p.L528L NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1468 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CCCGTGTTTCTAGAATTATTC 0.368000 23 9 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648934 62648934 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:62648934C>G ENST00000337910.5 - 6 829 c.492G>C c.(490-492)aaG>aaC p.K164N RHOBTB1_ENST00000357917.4_Missense_Mutation_p.K164N NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 164 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) TATCCCCTCTCTTTATGGGCC 0.393000 40 46 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15634297 15634297 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:15634297G>A ENST00000378076.3 - 22 2571 c.2218C>T c.(2218-2220)Ctg>Ttg p.L740L NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 740 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 CGGAGGCCCAGGGAATACTAA 0.378000 17 21 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76257335 76257335 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:76257335C>T ENST00000529032.1 + 19 3768 c.3768C>T c.(3766-3768)atC>atT p.I1256I C11orf30_ENST00000525038.1_Silent_p.I1257I|C11orf30_ENST00000524767.1_Silent_p.I1271I|C11orf30_ENST00000533248.1_Silent_p.I1165I|C11orf30_ENST00000525919.1_Silent_p.I1257I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.I1256I|C11orf30_ENST00000524490.1_Silent_p.I1158I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1256 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAGAAATTATCATCCAGGTAA 0.433000 45 52 0 0 1 0 0 FAM21EP 100421577 broad.mit.edu 37 10 51826512 51826512 + RNA SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:51826512C>A ENST00000456967.1 - 0 1051 NR_038275.1 AGATTTGAGGCAGCTGTATTG 0.463000 5 8 0.0215528 0.0215987 1 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105440730 105440730 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:105440730G>A ENST00000258494.9 - 14 1844 c.1704C>T c.(1702-1704)atC>atT p.I568I C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 568 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 GGGCCTGGTTGATTGGAATAG 0.373000 84 58 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108680496 108680496 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:108680496G>C ENST00000361189.2 - 8 2028 c.1789C>G c.(1789-1791)Ctt>Gtt p.L597V PJA2_ENST00000361557.3_Missense_Mutation_p.L597V NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 597 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TCCACTGCAAGAGACTCTAAA 0.413000 56 55 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15496812 15496812 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:15496812G>A ENST00000341776.2 + 7 1600 c.1356G>A c.(1354-1356)aaG>aaA p.K452K JARID2_ENST00000541660.1_Silent_p.K414K|JARID2_ENST00000397311.3_Silent_p.K280K NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 452 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGGCGGAGAAGCCGCAGTCGC 0.692000 20 17 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183699591 183699591 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:183699591C>A ENST00000334444.6 - 8 1311 c.1071G>T c.(1069-1071)aaG>aaT p.K357N ABCC5_ENST00000265586.6_Missense_Mutation_p.K357N|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 357 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTTCATTCATCTTCTGGACAC 0.403000 24 39 1.10513e-12 1.15682e-12 1 1 0 RBM47 54502 broad.mit.edu 37 4 40439899 40439899 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:40439899C>T ENST00000319592.4 - 4 1721 c.1012G>A c.(1012-1014)Gag>Aag p.E338K RBM47_ENST00000295971.7_Missense_Mutation_p.E338K|RBM47_ENST00000381795.6_Missense_Mutation_p.E338K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.E338K|RBM47_ENST00000514014.1_Missense_Mutation_p.E300K A0AV96 RBM47_HUMAN RNA binding motif protein 47 338 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TGCGCTGCCTCAGCCGCGCCG 0.662000 55 42 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155233140 155233140 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:155233140C>T ENST00000368361.4 - 13 1684 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K CLK2_ENST00000361168.5_Missense_Mutation_p.E456K|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.E457K|CLK2_ENST00000355560.4_Missense_Mutation_p.E455K P49760 CLK2_HUMAN CDC-like kinase 2 457 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCATGCTTTCAATCAGATCG 0.557000 Other conserved DNA damage response genes 19 60 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100859192 100859192 + Silent SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:100859192C>A ENST00000223127.3 - 5 1010 c.612G>T c.(610-612)ctG>ctT p.L204L NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 204 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TCCCTACCCTCAGTCCTGGGT 0.582000 45 38 2.37825e-27 2.58147e-27 1 1 0 USP24 23358 broad.mit.edu 37 1 55607317 55607317 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:55607317C>T ENST00000294383.6 - 24 2721 c.2722G>A c.(2722-2724)Gta>Ata p.V908I USP24_ENST00000407756.1_Missense_Mutation_p.V748I NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 908 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GAGGTTGCTACAGTTGGCATG 0.403000 7 11 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56419205 56419205 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:56419205C>T ENST00000588751.1 - 7 2424 c.2400G>A c.(2398-2400)ctG>ctA p.L800L NLRP13_ENST00000342929.3_Silent_p.L800L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 800 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTTTAAGAATCAGGGGGACAG 0.498000 72 111 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:39197549G>A ENST00000306271.4 - 1 164 c.101C>T c.(100-102)tCc>tTc p.S34F NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 88 146 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53667757 53667757 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53667757G>C ENST00000600412.1 - 2 1906 c.1791C>G c.(1789-1791)gtC>gtG p.V597V ZNF665_ENST00000396424.3_Silent_p.V662V Q9H7R5 ZN665_HUMAN zinc finger protein 665 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TTTGAGTAAAGACCTTGCCAC 0.453000 22 45 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152954207 152954207 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:152954207G>C ENST00000253122.5 + 1 654 c.178G>C c.(178-180)Gac>Cac p.D60H NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 60 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GCGCCAGATGGACTTCATCAT 0.736000 23 1 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128850 147128850 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:147128850G>C ENST00000282928.4 + 1 1680 c.951G>C c.(949-951)gaG>gaC p.E317D NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 317 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E317D(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CGCGCTCCGAGAATTTAAAGA 0.567000 41 45 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118486190 118486190 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:118486190C>T ENST00000349139.5 + 11 1316 c.1269C>T c.(1267-1269)ttC>ttT p.F423F NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CTTTGTCATTCAGCTCAGACA 0.413000 22 39 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581918 84581918 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:84581918G>A ENST00000286744.5 + 16 1999 c.1775G>A c.(1774-1776)cGt>cAt p.R592H ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R592H NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 592 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GTGAAGTGCCGTGTGCTCCTC 0.607000 76 67 0 0 1 0 0 OMG 4974 broad.mit.edu 37 17 29623198 29623198 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:29623198G>A ENST00000247271.4 - 2 413 c.152C>T c.(151-153)tCt>tTt p.S51F NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 51 LRRNT. cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) TTGCAGTCCAGATGGTAATGT 0.413000 14 110 0 0 1 0 0 ELP5 23587 broad.mit.edu 37 17 7161985 7161985 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:7161985G>A ENST00000574993.1 + 6 935 c.718G>A c.(718-720)Gat>Aat p.D240N ELP5_ENST00000396628.2_Missense_Mutation_p.D240N|ELP5_ENST00000396627.2_Missense_Mutation_p.D240N|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.D240N|ELP5_ENST00000356683.2_Missense_Mutation_p.D240N elongator acetyltransferase complex subunit 5 GCCCTACTCCGATCCTCATAT 0.493000 16 57 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26667448 26667448 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:26667448G>A ENST00000226225.2 + 3 586 c.319G>A c.(319-321)Gaa>Aaa p.E107K TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E3K|TNFAIP1_ENST00000583213.1_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 107 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) ATTGATGGCTGAAGCAAAGTA 0.537000 129 61 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87448115 87448115 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:87448115G>A ENST00000268616.4 - 10 1314 c.1097C>T c.(1096-1098)tCg>tTg p.S366L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 366 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CGGCGGGGCCGAGGGGTTCAG 0.637000 25 61 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517669 195517669 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:195517669G>A ENST00000463781.3 - 2 1241 c.782C>T c.(781-783)tCa>tTa p.S261L MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S261L|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 266 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TATCTTCTCTGATGTCATCAT 0.473000 43 36 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030900 56030900 + Silent SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:56030900T>C ENST00000309675.2 + 1 257 c.225T>C c.(223-225)acT>acC p.T75T NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TCTACACCACTGACATCGTGC 0.597000 66 50 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105477567 105477567 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:105477567C>T ENST00000336219.3 - 2 855 c.700G>A c.(700-702)Gtg>Atg p.V234M CDCA4_ENST00000392590.3_Missense_Mutation_p.V234M NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 234 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) ATCTCCACCACGTGGTCCAGC 0.697000 16 19 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49171950 49171950 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:49171950G>A ENST00000307885.4 - 2 1649 c.955C>T c.(955-957)Cag>Tag p.Q319* ADCY6_ENST00000550422.1_Nonsense_Mutation_p.Q319*|ADCY6_ENST00000357869.3_Nonsense_Mutation_p.Q319* NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 319 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 membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CGGGTCTCCTGAAAGGCCTGG 0.632000 12 15 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669014 53669014 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53669014G>T ENST00000600412.1 - 2 649 c.534C>A c.(532-534)ttC>ttA p.F178L ZNF665_ENST00000396424.3_Missense_Mutation_p.F243L Q9H7R5 ZN665_HUMAN zinc finger protein 665 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAGGTTGACTGAAGACCTTTC 0.403000 58 87 2.23044e-30 2.43226e-30 1 1 0 SPEN 23013 broad.mit.edu 37 1 16262029 16262029 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:16262029G>A ENST00000375759.3 + 11 9498 c.9294G>A c.(9292-9294)gtG>gtA p.V3098V NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3098 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGGCGAGGTGAGAATGAACA 0.602000 33 44 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3653353 3653353 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:3653353C>T ENST00000335312.3 - 7 944 c.856G>A c.(856-858)Gag>Aag p.E286K PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E286K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E286K|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E286K NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 286 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) AGGAGCCCCTCGGGCATGTCC 0.672000 4 71 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234420381 234420381 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:234420381G>A ENST00000251722.6 - 20 2614 c.2497C>T c.(2497-2499)Ctt>Ttt p.L833F USP40_ENST00000409945.1_Missense_Mutation_p.L9F|USP40_ENST00000450966.1_Missense_Mutation_p.L845F|USP40_ENST00000427112.2_Missense_Mutation_p.L833F Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 833 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GCTTTTCCAAGACACAGTCCC 0.358000 5 17 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127623000 127623000 + Splice_Site SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:127623000C>T ENST00000508053.1 - 60 7854 c.6880G>A c.(6880-6882)Gat>Aat p.D2294N FBN2_ENST00000262464.4_Splice_Site_p.D2294N P35556 FBN2_HUMAN fibrillin 2 2294 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGGCCTTACCTTTGCACATC 0.438000 74 81 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42537260 42537260 + RNA SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:42537260C>T ENST00000358097.4 - 0 1160 CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 TCGTGAATCACGGCAGTGGTG 0.577000 6 24 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61271410 61271410 + Silent SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:61271410C>A ENST00000424789.2 + 4 274 c.270C>A c.(268-270)ctC>ctA p.L90L AC037445.1_ENST00000581421.1_RNA|AC037445.1_ENST00000435892.1_RNA|TANC2_ENST00000389520.4_Silent_p.L90L NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 90 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAAACACACTCATGACTCGTC 0.458000 9 38 2.17888e-05 2.22624e-05 1 1 0 TNXB 7148 broad.mit.edu 37 6 32057092 32057092 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:32057092C>G ENST00000375244.3 - 5 2624 c.2423G>C c.(2422-2424)aGa>aCa p.R808T TNXB_ENST00000375247.2_Missense_Mutation_p.R808T P22105 TENX_HUMAN tenascin XB 760 Fibronectin type-III 1. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCCAGTCCTCTCTGGTCATA 0.642000 14 17 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36106234 36106234 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:36106234G>A ENST00000203166.5 + 6 456 c.431G>A c.(430-432)cGa>cAa p.R144Q HAUS5_ENST00000379045.2_Missense_Mutation_p.R144Q NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 144 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CATACGCTCCGAGATCCCATG 0.642000 15 11 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1078088 1078088 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:1078088C>T ENST00000264930.5 - 12 1532 c.1489G>A c.(1489-1491)Ggc>Agc p.G497S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 497 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GCCAGCATGCCGATGACCAGG 0.672000 6 7 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16545237 16545237 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:16545237G>A ENST00000597937.1 - 7 441 c.437C>T c.(436-438)tCt>tTt p.S146F EPS15L1_ENST00000594975.1_Missense_Mutation_p.S146F|EPS15L1_ENST00000602009.1_5'UTR|EPS15L1_ENST00000535753.2_Missense_Mutation_p.S146F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S146F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S146F NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 146 EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TTTGTCTCCAGAGAGCAAACC 0.488000 78 144 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43350367 43350367 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:43350367C>T ENST00000378852.3 + 9 1176 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.H340Y|API5_ENST00000534600.1_Missense_Mutation_p.H351Y|API5_ENST00000420461.2_Missense_Mutation_p.H297Y|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000531273.1_Missense_Mutation_p.H351Y NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 351 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 GTACAGTTTTCACCAGTTGGG 0.423000 20 66 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7886608 7886608 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:7886608G>A ENST00000377532.3 + 16 2250 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.E668K P56645 PER3_HUMAN period circadian clock 3 668 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.E668*(1) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GACCTCGGAAGAATTTAAACA 0.483000 22 45 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35736562 35736562 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:35736562C>T ENST00000353704.2 + 9 1393 c.955C>T c.(955-957)Ccc>Tcc p.P319S CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 343 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) GCCTCAGGCTCCCAGTGCAGA 0.597000 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 5 0 0 1 0 0 INIP 58493 broad.mit.edu 37 9 115449877 115449877 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:115449877G>C ENST00000374242.4 - 5 561 c.256C>G c.(256-258)Caa>Gaa p.Q86E INIP_ENST00000374234.1_Silent_p.L25L|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_Silent_p.L25L|INIP_ENST00000374236.1_Missense_Mutation_p.Q56E NM_021218.1 NP_067041.1 INTS3 and NABP interacting protein GCAGAGTCTTGAGTGATGAAG 0.368000 58 4 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711496 140711496 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140711496C>G ENST00000517417.1 + 1 1245 c.1245C>G c.(1243-1245)atC>atG p.I415M PCDHGA1_ENST00000378105.3_Missense_Mutation_p.I415M NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACTTATCTCTGGGTACA 0.363000 54 55 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41188638 41188638 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:41188638G>C ENST00000435456.2 - 4 358 c.225C>G c.(223-225)ctC>ctG p.L75L SLC25A17_ENST00000544408.1_Silent_p.L38L|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_5'UTR NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 75 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 tggagcagcagagactggaaa 0.423000 15 46 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882102 110882102 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:110882102G>C ENST00000369784.3 + 1 975 c.75G>C c.(73-75)acG>acC p.T25T RBM15_ENST00000487146.2_Silent_p.T25T|RBM15_ENST00000602849.1_Silent_p.T25T NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 25 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TGTGTGAAACGAGCGCGGGGC 0.647000 T MKL1 acute megakaryocytic leukemia 22 19 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64335107 64335107 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:64335107C>T ENST00000301891.4 + 7 1469 c.1095C>T c.(1093-1095)ttC>ttT p.F365F SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Silent_p.F365F NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 365 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GGCTGGTCTTCGACCTGCAGA 0.632000 82 109 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4867693 4867693 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:4867693C>G ENST00000321919.9 - 10 888 c.812G>C c.(811-813)gGa>gCa p.G271A GLYR1_ENST00000591451.1_Missense_Mutation_p.G271A|GLYR1_ENST00000436648.5_Missense_Mutation_p.G190A|GLYR1_ENST00000381983.3_Missense_Mutation_p.G254A NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 271 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GCCCAAAAATCCTATCCTGAA 0.498000 34 53 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78183627 78183627 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:78183627G>T ENST00000370793.1 - 18 2282 c.1936C>A c.(1936-1938)Ctt>Att p.L646I USP33_ENST00000370792.3_Missense_Mutation_p.L638I|USP33_ENST00000357428.1_Missense_Mutation_p.L646I|USP33_ENST00000370794.3_Missense_Mutation_p.L615I NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 646 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TCCTTAGCAAGAAATGGCTGA 0.388000 72 65 1.10782e-18 1.18067e-18 1 1 0 RFX6 222546 broad.mit.edu 37 6 117198586 117198586 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:117198586G>A ENST00000332958.2 + 1 164 c.148G>A c.(148-150)Gaa>Aaa p.E50K NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 50 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCTGGCGGCCGAAGGGCAGCC 0.667000 10 13 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803577 137803577 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:137803577C>T ENST00000239938.4 + 2 1711 c.1439C>T c.(1438-1440)tCg>tTg p.S480L NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 480 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S480L(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) cccggctcctcgacctaccca 0.642000 99 125 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134624536 134624536 + Splice_Site SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:134624536C>G ENST00000368586.5 - 56 7602 c.e56-1 TTC40_ENST00000263170.5_Splice_Site NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 ACCTGGCACTCTGCCGGGACG 0.682000 5 6 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58071466 58071466 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:58071466G>C ENST00000219271.3 + 2 1038 c.253G>C c.(253-255)Gag>Cag p.E85Q NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 85 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 GGCCCTTGCAGAGATGCAGCG 0.607000 61 63 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669352 45669352 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:45669352G>A ENST00000322157.4 + 11 1528 c.1291G>A c.(1291-1293)Gag>Aag p.E431K NPEPPS_ENST00000530173.1_Missense_Mutation_p.E427K|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E351K NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 431 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TGAGGTTGATGAGATATTTGA 0.393000 32 77 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803729 185803729 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:185803729C>T ENST00000302277.6 + 4 4200 c.3606C>T c.(3604-3606)gtC>gtT p.V1202V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1202 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACCCTACTGTCATCCCTTTGC 0.438000 117 121 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59963 59963 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:59963C>G ENST00000509152.2 + 3 328 c.143C>G c.(142-144)tCt>tGt p.S48C ZNF595_ENST00000526473.2_Missense_Mutation_p.S48C|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TTTGTGATCTCTAACCCAGAC 0.388000 20 134 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157766903 157766903 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:157766903A>G ENST00000358292.3 - 9 1130 c.1079T>C c.(1078-1080)aTa>aCa p.I360T FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.H401H|FCRL1_ENST00000368176.3_Silent_p.H402H NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 0 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTCCTCCATATGTGTCCCCA 0.388000 101 28 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499499 59499499 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:59499499C>T ENST00000307144.4 + 1 458 c.360C>T c.(358-360)ttC>ttT p.F120F MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 120 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GCAGCCCTTTCACGAAAATGC 0.423000 59 139 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56505038 56505038 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:56505038C>G ENST00000303305.6 + 11 1429 c.1010C>G c.(1009-1011)cCc>cGc p.P337R RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 337 Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) ACCAGTGGTCCCTTCGAGCCT 0.458000 41 36 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947258 57947258 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:57947258C>G ENST00000335397.3 + 3 658 c.342C>G c.(340-342)ctC>ctG p.L114L NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACTGCTACCTCTTGGCCCTCA 0.562000 49 39 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004745 75004745 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:75004745G>A ENST00000373359.2 - 1 334 c.142C>T c.(142-144)Cag>Tag p.Q48* NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 48 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATTGGCGCCTGAGGGCACTGG 0.592000 41 0 0 0 1 0 0 KXD1 79036 broad.mit.edu 37 19 18677976 18677976 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:18677976G>C ENST00000602094.1 + 4 1749 c.289G>C c.(289-291)Gag>Cag p.E97Q KXD1_ENST00000599319.1_Missense_Mutation_p.E97Q|KXD1_ENST00000601630.1_Missense_Mutation_p.E116Q|KXD1_ENST00000595073.1_Missense_Mutation_p.E97Q|KXD1_ENST00000598830.1_Missense_Mutation_p.E97Q|KXD1_ENST00000540691.1_Missense_Mutation_p.E97Q|KXD1_ENST00000222307.4_Missense_Mutation_p.E97Q|KXD1_ENST00000539106.1_Missense_Mutation_p.E97Q|KXD1_ENST00000599000.1_Missense_Mutation_p.E97Q Q9BQD3 CS050_HUMAN KxDL motif containing 1 97 protein binding GCAGCACCCAGAGGCCTTCAG 0.637000 13 29 0 0 1 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860745 27860745 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:27860745G>A ENST00000359611.2 - 1 218 c.183C>T c.(181-183)gcC>gcT p.A61A HIST1H3J_ENST00000479986.1_5'UTR NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 61 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 CCAGGATCTCGGCAGTTAGGT 0.667000 90 110 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 4 116 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116732082 116732082 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:116732082G>A ENST00000375300.1 - 18 2194 c.2189C>T c.(2188-2190)tCa>tTa p.S730L SIK3_ENST00000292055.4_Missense_Mutation_p.S672L|SIK3_ENST00000542607.1_Missense_Mutation_p.S672L|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Missense_Mutation_p.S730L|SIK3_ENST00000434315.2_Missense_Mutation_p.S571L|SIK3_ENST00000375288.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 672 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGGTGGGCTTGAAGGCTGAAT 0.468000 OREG0003492 type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 36 49 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164652 26164652 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:26164652G>C ENST00000335473.7 + 4 1019 c.769G>C c.(769-771)Gag>Cag p.E257Q MYO18B_ENST00000407587.2_Missense_Mutation_p.E257Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.E257Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 257 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAAAGAGGCTGAGCCCCAGGG 0.642000 12 18 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756452 56756452 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:56756452G>A ENST00000326855.2 + 1 106 c.64G>A c.(64-66)Gag>Aag p.E22K NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TGCCCAGCATGAGTTTTGGTG 0.403000 59 69 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127568858 127568858 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:127568858C>T ENST00000304916.3 - 2 1232 c.777G>A c.(775-777)caG>caA p.Q259Q NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 259 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CGCGCCCGATCTGGTCGTTGC 0.692000 13 22 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26174762 26174762 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:26174762G>C ENST00000264712.3 - 5 2481 c.1902C>G c.(1900-1902)atC>atG p.I634M KIF3C_ENST00000405914.1_Missense_Mutation_p.I634M|KIF3C_ENST00000496378.1_5'UTR NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 634 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAAGTTCTCGATGATTAGGT 0.532000 39 63 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70346823 70346823 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:70346823C>T ENST00000558939.1 - 16 3166 c.1789G>A c.(1789-1791)Gat>Aat p.D597N TLE3_ENST00000451782.2_Missense_Mutation_p.D594N|TLE3_ENST00000440567.3_Missense_Mutation_p.D587N|TLE3_ENST00000442299.2_Missense_Mutation_p.D589N|TLE3_ENST00000557907.1_Missense_Mutation_p.D589N|TLE3_ENST00000317509.8_Missense_Mutation_p.D585N|TLE3_ENST00000560589.1_Missense_Mutation_p.D541N|TLE3_ENST00000557997.1_Missense_Mutation_p.D589N|TLE3_ENST00000559048.1_Missense_Mutation_p.D597N|TLE3_ENST00000560939.1_Missense_Mutation_p.D599N|TLE3_ENST00000558201.1_Missense_Mutation_p.D603N|TLE3_ENST00000559191.1_Missense_Mutation_p.D178N|TLE3_ENST00000559929.1_Missense_Mutation_p.D607N|TLE3_ENST00000539550.1_Missense_Mutation_p.D524N|TLE3_ENST00000558379.1_Missense_Mutation_p.D592N NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 597 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATGTTCCCATCGCTGCAGCAG 0.617000 31 104 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39127542 39127542 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:39127542C>T ENST00000588934.1 + 5 451 c.368C>T c.(367-369)tCa>tTa p.S123L EIF3K_ENST00000248342.4_Silent_p.I213I|EIF3K_ENST00000592558.1_Silent_p.I187I|EIF3K_ENST00000593149.1_Silent_p.I126I Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K 0 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTCCAGCATCATGGCCTCCT 0.552000 32 140 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50821713 50821713 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:50821713G>A ENST00000540145.1 + 14 2473 c.2058G>A c.(2056-2058)ttG>ttA p.L686L CYLD_ENST00000311559.9_Silent_p.L686L|CYLD_ENST00000564326.1_Silent_p.L683L|CYLD_ENST00000427738.3_Silent_p.L686L|CYLD_ENST00000566206.1_Silent_p.L683L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000569418.1_Silent_p.L683L|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Silent_p.L501L|CYLD_ENST00000398568.2_Silent_p.L683L Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 686 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AGGAATTCTTGAATATTCTGT 0.254000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 10 9 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84200559 84200559 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:84200559C>T ENST00000376499.3 - 18 3053 c.1989G>A c.(1987-1989)ctG>ctA p.L663L NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 663 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GGCAGTACCCCAGGGAGAAGA 0.547000 32 2 0 0 1 0 0 CTB-60E11.9 0 broad.mit.edu 37 19 40023495 40023495 + RNA SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:40023495G>A ENST00000594676.1 + 0 437 TGCTGTATGCGAGACCTGCGC 0.602000 OREG0025463 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 23 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183522099 183522099 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:183522099C>G ENST00000511685.1 + 4 657 c.534C>G c.(532-534)ggC>ggG p.G178G TENM3_ENST00000406950.2_Silent_p.G178G teneurin transmembrane protein 3 GCAATCAAGGCCAGTCTACCC 0.388000 91 123 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33385354 33385354 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:33385354G>A ENST00000374500.5 - 2 349 c.218C>T c.(217-219)tCg>tTg p.S73L CUTA_ENST00000488478.1_Missense_Mutation_p.S54L|CUTA_ENST00000374496.3_Missense_Mutation_p.S31L|CUTA_ENST00000488034.1_Missense_Mutation_p.S54L|CUTA_ENST00000494751.1_Missense_Mutation_p.S31L|CUTA_ENST00000607266.1_Missense_Mutation_p.S31L|CUTA_ENST00000440279.3_Missense_Mutation_p.S31L NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 54 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 CGAGGCCGGCGAGGGCTGGGT 0.632000 42 133 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72049886 72049886 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:72049886G>T ENST00000305425.4 - 9 2394 c.1972C>A c.(1972-1974)Cag>Aag p.Q658K DACH1_ENST00000354591.4_Missense_Mutation_p.Q456K|DACH1_ENST00000359684.2_Missense_Mutation_p.Q710K|DACH1_ENST00000313174.7_Missense_Mutation_p.Q510K NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 708 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTTAGCGTCTGTTCTGCTTGT 0.393000 131 192 1.44193e-45 1.58714e-45 1 1 0 TTN 7273 broad.mit.edu 37 2 179482790 179482790 + Nonsense_Mutation SNP A A T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:179482790A>T ENST00000589042.1 - 253 47512 c.47288T>A c.(47287-47289)tTg>tAg p.L15763* TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L13195*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L6698*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L14122*|TTN_ENST00000342175.6_Nonsense_Mutation_p.L6890*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.L6823* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14122 Fibronectin type-III 14. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTACATTCAAAGGAGGGCC 0.418000 37 38 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4955703 4955703 + Nonsense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:4955703C>A ENST00000404774.3 - 4 492 c.298G>T c.(298-300)Gaa>Taa p.E100* MMD2_ENST00000406755.1_Nonsense_Mutation_p.E100*|MMD2_ENST00000401401.3_Nonsense_Mutation_p.E100* NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 100 integral to membrane receptor activity p.E100K(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) AGACAGTGTTCCACCATCCTA 0.622000 31 49 1.74807e-11 1.82171e-11 1 1 0 NDST4 64579 broad.mit.edu 37 4 115891668 115891668 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:115891668A>G ENST00000264363.2 - 4 1817 c.1139T>C c.(1138-1140)aTg>aCg p.M380T NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 380 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTGGCTCCACATGTGAGGAAA 0.418000 22 24 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103286387 103286387 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:103286387G>A ENST00000376052.3 + 11 1348 c.1332G>A c.(1330-1332)ctG>ctA p.L444L TPP2_ENST00000376065.4_Silent_p.L444L P29144 TPP2_HUMAN tripeptidyl peptidase II 444 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGACGCAGCTGATGAATGGAA 0.502000 13 106 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39234255 39234255 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:39234255C>T ENST00000426016.1 - 17 2676 c.2590G>A c.(2590-2592)Gag>Aag p.E864K SOS1_ENST00000402219.2_Missense_Mutation_p.E864K|SOS1_ENST00000395038.2_Missense_Mutation_p.E864K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 864 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TTGTTCAACTCTTGAAAGACT 0.358000 Noonan syndrome 72 60 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173782571 173782571 + Silent SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:173782571T>C ENST00000264111.6 + 5 673 c.486T>C c.(484-486)taT>taC p.Y162Y RAPGEF4_ENST00000409036.1_Silent_p.Y162Y|RAPGEF4_ENST00000538974.1_Silent_p.Y9Y|RAPGEF4_ENST00000397087.3_Silent_p.Y18Y|RAPGEF4_ENST00000397081.3_Silent_p.Y162Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Silent_p.Y9Y|RAPGEF4_ENST00000540783.1_Silent_p.Y9Y Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 162 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CTCCTCCTTATGGTGTTATGG 0.358000 67 75 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220073293 220073293 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:220073293G>C ENST00000409097.1 + 7 730 c.673G>C c.(673-675)Gag>Cag p.E225Q ZFAND2B_ENST00000289528.5_Splice_Site|ZFAND2B_ENST00000409217.1_Splice_Site|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409336.1_Splice_Site|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.E225Q Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 0 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCTTTGTAGAGTGAGGATG 0.522000 58 75 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19470303 19470303 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:19470303G>C ENST00000407835.1 + 5 551 c.295G>C c.(295-297)Gac>Cac p.D99H CDC45_ENST00000263201.1_Missense_Mutation_p.D99H|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000437685.2_Missense_Mutation_p.D99H|CDC45_ENST00000483431.1_3'UTR O75419 CDC45_HUMAN cell division cycle 45 99 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 CTTTGTGTGTGACACCCATAG 0.363000 98 92 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589142 140589142 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140589142C>T ENST00000239450.2 + 1 852 c.663C>T c.(661-663)ccC>ccT p.P221P PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 221 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCCCCTCCCAGGTCTGGAA 0.502000 40 48 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31351025 31351025 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:31351025C>T ENST00000225823.2 - 6 2075 c.1203G>A c.(1201-1203)ttG>ttA p.L401L ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.L350L NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 350 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCTTTTCCGCCAACAGACCTG 0.532000 97 75 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 23 23 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6936107 6936107 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:6936107G>A ENST00000311268.3 + 5 2292 c.1505G>A c.(1504-1506)cGg>cAg p.R502Q GPR162_ENST00000382315.3_Missense_Mutation_p.R198Q|GPR162_ENST00000428545.2_Missense_Mutation_p.R218Q NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 502 integral to membrane|plasma membrane G-protein coupled receptor activity p.R502P(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GGCTTCTTCCGGGAGGAGATC 0.657000 115 91 0 0 1 0 0 SFR1 119392 broad.mit.edu 37 10 105885385 105885385 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:105885385C>T ENST00000336358.5 + 3 1366 c.847C>T c.(847-849)Caa>Taa p.Q283* SFR1_ENST00000369727.3_Nonsense_Mutation_p.Q221*|SFR1_ENST00000369729.3_Nonsense_Mutation_p.Q208* Q86XK3 SFR1_HUMAN SWI5-dependent recombination repair 1 221 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding AAGCCTTACTCAATTGATAGA 0.353000 32 40 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7887870 7887870 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:7887870G>C ENST00000377532.3 + 17 3105 c.2881G>C c.(2881-2883)Gag>Cag p.E961Q PER3_ENST00000361923.2_Missense_Mutation_p.E953Q P56645 PER3_HUMAN period circadian clock 3 953 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCCACAAACTGAGTATGTAAG 0.443000 21 52 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414437 138414437 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:138414437G>C ENST00000409968.1 + 23 4355 c.4177G>C c.(4177-4179)Gag>Cag p.E1393Q THSD7B_ENST00000272643.3_Missense_Mutation_p.E1396Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1365Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAGAAGCTTTGAGACTGTGGG 0.473000 36 47 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27503822 27503822 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:27503822C>T ENST00000356183.4 - 19 3003 c.2988G>A c.(2986-2988)ttG>ttA p.L996L GTF3C1_ENST00000561623.1_Silent_p.L996L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 996 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CATTCTTCTTCAAGAAGATAA 0.517000 49 43 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110397820 110397820 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:110397820T>C ENST00000378402.5 + 6 634 c.530T>C c.(529-531)aTt>aCt p.I177T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 177 IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAAGTAATATTGCACTAAGC 0.294000 HNSCC(38;0.096) 32 29 0 0 1 0 0 PSMA4 5685 broad.mit.edu 37 15 78834986 78834986 + Splice_Site SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:78834986G>T ENST00000044462.7 + 4 358 c.208G>T c.(208-210)Gag>Tag p.E70* PSMA4_ENST00000558341.1_Splice_Site_p.E70*|PSMA4_ENST00000558281.1_Splice_Site_p.E70*|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000560217.1_Splice_Site_p.E39*|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Splice_Site_p.E70* NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 70 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 TAAACTCAATGAGTAAGTGAG 0.358000 39 77 1.60099e-16 1.69474e-16 1 1 0 UBIAD1 29914 broad.mit.edu 37 1 11345735 11345735 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:11345735C>T ENST00000376810.5 + 2 890 c.564C>T c.(562-564)ctC>ctT p.L188L UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 188 L -> H (in SCCD). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) TGGGAGACCTCATCATCCTCA 0.557000 33 35 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117310613 117310613 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:117310613G>T ENST00000321322.6 - 22 4083 c.4082C>A c.(4081-4083)aCa>aAa p.T1361K DSCAML1_ENST00000527706.1_Missense_Mutation_p.T1091K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1301 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CATCCAAGGTGTTGTCACGGT 0.572000 63 60 6.20203e-27 6.70105e-27 1 1 0 PRKAA2 5563 broad.mit.edu 37 1 57169957 57169957 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:57169957G>C ENST00000371244.4 + 7 1168 c.1102G>C c.(1102-1104)Gaa>Caa p.E368Q NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 368 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ACCTCATCCAGAAAGGATGCC 0.473000 24 71 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598163 49598163 + RNA SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:49598163G>T ENST00000527477.1 + 0 767 CTTCGGAAGAGGAAGAGGGCT 0.532000 9 21 1.15088e-07 1.18621e-07 1 1 0 PLEC 5339 broad.mit.edu 37 8 144997377 144997377 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:144997377C>T ENST00000322810.4 - 31 7300 c.7131G>A c.(7129-7131)ctG>ctA p.L2377L PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000354958.2_Silent_p.L2218L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000345136.3_Silent_p.L2240L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2377 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 TGAGCTTGCTCAGCTCCTCCA 0.637000 19 18 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824960 162824960 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:162824960G>A ENST00000367912.2 - 4 675 c.501C>T c.(499-501)gaC>gaT p.D167D C1orf110_ENST00000367910.1_Silent_p.D168D|C1orf110_ENST00000367911.2_Silent_p.D163D|C1orf110_ENST00000524691.1_Intron Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TGGGGTCTACGTCCTTAGATG 0.463000 263 86 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262271 45262271 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:45262271C>A ENST00000303230.4 - 8 2482 c.2425G>T c.(2425-2427)Ggc>Tgc p.G809C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 809 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGGGACTCGCCCACAGTGGGA 0.667000 45 33 4.16155e-14 4.37567e-14 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53668485 53668485 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53668485G>C ENST00000600412.1 - 2 1178 c.1063C>G c.(1063-1065)Cat>Gat p.H355D ZNF665_ENST00000396424.3_Missense_Mutation_p.H420D Q9H7R5 ZN665_HUMAN zinc finger protein 665 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) ATTCTTCGATGATTTGCTAAG 0.403000 25 62 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56649313 56649313 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:56649313G>C ENST00000389934.3 - 25 3923 c.3806C>G c.(3805-3807)tCt>tGt p.S1269C TEX14_ENST00000349033.5_Missense_Mutation_p.S1229C|TEX14_ENST00000240361.8_Missense_Mutation_p.S1275C NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1275 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGAGTTTCAGAGGAAGTAAG 0.443000 81 58 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957694 12957694 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:12957694C>T ENST00000276297.4 - 9 2561 c.2152G>A c.(2152-2154)Gcc>Acc p.A718T DLC1_ENST00000358919.2_Missense_Mutation_p.A281T|DLC1_ENST00000520226.1_Missense_Mutation_p.A207T|DLC1_ENST00000512044.2_Missense_Mutation_p.A315T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 718 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCATTGAGGGCGGAGATCTCC 0.587000 49 38 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138664663 138664663 + Splice_Site SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:138664663C>G ENST00000520602.1 - 28 3211 c.e28-1 MCF2_ENST00000414978.1_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000370578.4_Splice_Site|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370576.4_Splice_Site|MCF2_ENST00000519895.1_Splice_Site P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) ACACAGGTCTCTACAAGGGAA 0.453000 18 1 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241294 34241294 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:34241294C>G ENST00000374114.3 - 3 2214 c.1951G>C c.(1951-1953)Gga>Cga p.G651R RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G651R|RBM12_ENST00000359646.1_Missense_Mutation_p.G651R|CPNE1_ENST00000397443.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 651 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTGGGCATTCCTGGAACTGCA 0.542000 81 35 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736327 140736327 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140736327C>T ENST00000571252.1 + 1 1560 c.1560C>T c.(1558-1560)ttC>ttT p.F520F PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGCTCCTTCGACTATGAGC 0.527000 101 112 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202294 56202294 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr18:56202294C>G ENST00000361673.3 - 5 5338 c.5125G>C c.(5125-5127)Gag>Cag p.E1709Q NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1709 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTGACCTCCTCTGACCCCGTC 0.572000 52 56 0 0 1 0 0 PHF11 51131 broad.mit.edu 37 13 50087246 50087246 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:50087246G>C ENST00000357596.3 + 4 427 c.151G>C c.(151-153)Gat>Cat p.D51H PHF11_ENST00000378319.3_Missense_Mutation_p.D90H|PHF11_ENST00000488958.1_Missense_Mutation_p.D51H NM_001040444.1 NP_001035534.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) ACTTAATCCTGATAGAAGTTT 0.363000 11 50 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275493 17275493 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:17275493G>A ENST00000322611.3 + 2 428 c.168G>A c.(166-168)gaG>gaA p.E56E NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 56 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 AGGGCAAGGAGAAGCCCGACC 0.716000 9 10 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803672 142803672 + RNA SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:142803672G>T ENST00000423385.1 - 0 1293 tatgttctatgcatttatcat 0.308000 3 33 0.00909568 0.00913455 1 1 0 CYP2C8 1558 broad.mit.edu 37 10 96802798 96802798 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:96802798C>T ENST00000371270.3 - 7 1092 c.998G>A c.(997-999)aGa>aAa p.R333K CYP2C8_ENST00000539050.1_Missense_Mutation_p.R247K|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R231K NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 333 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTCCTGTGTCTGCCAATTAC 0.468000 48 55 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27427035 27427035 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:27427035C>T ENST00000263980.3 - 12 2786 c.2211G>A c.(2209-2211)ctG>ctA p.L737L SLC9A1_ENST00000545949.1_Silent_p.L398L NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 737 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) CTTTGCCCTTCAGCTCTTCAT 0.597000 143 190 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 39 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11718647 11718647 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:11718647G>A ENST00000376768.1 + 4 523 c.421G>A c.(421-423)Gat>Aat p.D141N FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000251547.5_Silent_p.L150L|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376770.1_Silent_p.L150L|FBXO44_ENST00000376760.1_Intron Q9H4M3 FBX44_HUMAN F-box protein 44 0 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGGAGCTGATGGATACCA 0.672000 36 34 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33385041 33385041 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:33385041G>C ENST00000374500.5 - 3 492 c.361C>G c.(361-363)Cag>Gag p.Q121E CUTA_ENST00000488478.1_Missense_Mutation_p.Q102E|CUTA_ENST00000374496.3_Missense_Mutation_p.Q79E|CUTA_ENST00000488034.1_Missense_Mutation_p.Q102E|CUTA_ENST00000494751.1_Missense_Mutation_p.Q79E|CUTA_ENST00000607266.1_Missense_Mutation_p.Q79E|CUTA_ENST00000440279.3_Missense_Mutation_p.Q79E NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 102 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 GATGTAATCTGAGGGATGAGG 0.527000 18 50 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59857658 59857658 + Missense_Mutation SNP G G C rs28997572 TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:59857658G>C ENST00000259008.2 - 13 2166 c.1899C>G c.(1897-1899)atC>atG p.I633M BRIP1_ENST00000577598.1_Missense_Mutation_p.I633M NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 633 I -> M (in dbSNP:rs28997572). DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CCTCCAGCTGGATAGTAAATG 0.328000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 31 79 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19662607 19662607 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:19662607C>T ENST00000328041.6 + 10 1070 c.873C>T c.(871-873)tgC>tgT p.C291C NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 291 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCAGCAACTGCGACGCAACTG 0.512000 34 76 0 0 1 0 0 CD200 4345 broad.mit.edu 37 3 112064109 112064109 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:112064109C>T ENST00000315711.8 + 3 452 c.395C>T c.(394-396)tCa>tTa p.S132L CD200_ENST00000473539.1_Missense_Mutation_p.S157L|CD200_ENST00000383681.3_Missense_Mutation_p.S58L NM_005944.5 NP_005935.4 P41217 OX2G_HUMAN CD200 molecule 132 Ig-like V-type. regulation of immune response integral to plasma membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) GGGAAGATCTCAGGAACGGCC 0.448000 29 63 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43622106 43622106 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:43622106G>C ENST00000305641.5 - 1 697 c.582C>G c.(580-582)ctC>ctG p.L194L LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 194 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TCTCCGGCTCGAGGTAGGTCA 0.667000 19 88 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75669580 75669580 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:75669580C>T ENST00000319410.5 - 7 998 c.877G>A c.(877-879)Gag>Aag p.E293K KARS_ENST00000302445.3_Missense_Mutation_p.E265K|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 265 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CTCCTTACCTCTAGGAATCCC 0.458000 24 30 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39021105 39021105 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:39021105C>T ENST00000251643.4 - 3 783 c.760G>A c.(760-762)Gag>Aag p.E254K NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 254 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TTCAGGCTCTCGATCTGCATC 0.592000 78 155 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 65 0.150653 0.150653 1 1 0 KAT5 10524 broad.mit.edu 37 11 65481086 65481086 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:65481086C>T ENST00000341318.4 + 5 797 c.563C>T c.(562-564)tCa>tTa p.S188L KAT5_ENST00000352980.4_Missense_Mutation_p.S103L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S136L|KAT5_ENST00000377046.3_Missense_Mutation_p.S155L|KAT5_ENST00000525204.1_3'UTR NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 155 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GAGGTGGTTTCACCAGCAACT 0.532000 46 68 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 238999898 238999898 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:238999898G>C ENST00000409736.2 + 8 948 c.924G>C c.(922-924)gtG>gtC p.V308V SCLY_ENST00000555827.1_Intron|SCLY_ENST00000254663.6_Intron|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Silent_p.V226V Q96I15 SCLY_HUMAN selenocysteine lyase 308 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) TTGGGAAGGTGAGCCCTGGTG 0.478000 57 100 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371051 33371051 + Missense_Mutation SNP C C T rs141493785 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr21:33371051C>T ENST00000270112.2 + 11 2059 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 567 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTCTGTGGATCGCGACGACCA 0.602000 34 3 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62422018 62422018 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:62422018G>A ENST00000245663.4 - 2 243 c.93C>T c.(91-93)tgC>tgT p.C31C ZBTB46_ENST00000395104.1_Silent_p.C31C|ZBTB46_ENST00000302995.2_Silent_p.C31C NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 31 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CGCAGACGTCGCACAGGACGC 0.592000 11 109 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51995063 51995063 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:51995063C>T ENST00000291707.3 - 8 1675 c.1620G>A c.(1618-1620)ccG>ccA p.P540P SIGLEC12_ENST00000598614.1_Silent_p.P422P NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 540 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTCATCTGCCGGGGATTCAA 0.617000 39 33 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 66003405 66003405 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:66003405C>A ENST00000320580.4 + 19 2277 c.2244C>A c.(2242-2244)ttC>ttA p.F748L PACS1_ENST00000529757.1_Missense_Mutation_p.F284L NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 748 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TTATTCCCTTCATTGGCGTGA 0.498000 16 144 3.45872e-05 3.52624e-05 1 1 0 FBXW7 55294 broad.mit.edu 37 4 153273676 153273676 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:153273676C>T ENST00000263981.5 - 1 447 c.207G>A c.(205-207)ggG>ggA p.G69G FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000603841.1_Intron NM_018315.4 NP_060785.2 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0 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 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) CTGTATTTTTCCCCTTCAGTG 0.393000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 28 41 0 0 1 0 0 SF3B4 10262 broad.mit.edu 37 1 149895601 149895601 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:149895601G>A ENST00000271628.8 - 6 1692 c.1108C>T c.(1108-1110)Ccg>Tcg p.P370S NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 370 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATACCATGCGGAGGCATAGGA 0.577000 33 10 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21830970 21830970 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:21830970G>A ENST00000216297.2 - 14 1986 c.1648C>T c.(1648-1650)Cac>Tac p.H550Y NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 550 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GTGGCAATGTGAAACGGTGTT 0.373000 79 83 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106888480 106888480 + Splice_Site SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:106888480G>C ENST00000526355.2 - 1 770 c.302C>G c.(301-303)tCg>tGg p.S101W GUCY1A2_ENST00000347596.2_Splice_Site_p.S101W|GUCY1A2_ENST00000282249.2_Splice_Site_p.S101W NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCCGCTCACCGAGGGCGCCGT 0.756000 14 10 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64335224 64335224 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:64335224C>G ENST00000301891.4 + 7 1586 c.1212C>G c.(1210-1212)atC>atG p.I404M SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.I404M NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 404 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GCCGCACCATCCAGGCGGGTT 0.692000 23 26 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52547734 52547734 + Splice_Site SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:52547734G>A ENST00000321725.6 + 31 3348 c.3272G>A c.(3271-3273)aGg>aAg p.R1091K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1091 FAS1 3. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCTTCCAGAGGGTCTGGGTG 0.607000 5 38 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415816 10415816 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:10415816G>A ENST00000226207.5 - 12 1150 c.1056C>T c.(1054-1056)atC>atT p.I352I CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 352 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGAGCTTATAGATGGACACTC 0.433000 49 2 0 0 1 0 0 CMTM6 54918 broad.mit.edu 37 3 32533338 32533338 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:32533338G>A ENST00000205636.3 - 2 841 c.179C>T c.(178-180)tCa>tTa p.S60L NM_017801.2 NP_060271.1 Q9NX76 CKLF6_HUMAN CKLF-like MARVEL transmembrane domain containing 6 60 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1) 2 AGTACATTGTGATACAACTTC 0.353000 11 29 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 77 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460573 110460573 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:110460573T>C ENST00000378402.5 + 39 6082 c.5978T>C c.(5977-5979)gTt>gCt p.V1993A NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1993 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGTCCACAGTTGTATTTGAG 0.408000 HNSCC(38;0.096) 15 15 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44945115 44945115 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:44945115C>T ENST00000377967.4 + 24 3480 c.3439C>T c.(3439-3441)Cag>Tag p.Q1147* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q1068*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q1102*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1154* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1147 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTCAGGTCATCAGGAAAATAA 0.363000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 30 1 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710881 140710881 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140710881C>T ENST00000517417.1 + 1 630 c.630C>T c.(628-630)ctC>ctT p.L210L PCDHGA1_ENST00000378105.3_Silent_p.L210L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACCACCTCATCCTCACAG 0.517000 30 47 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50780089 50780089 + Silent SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:50780089G>T ENST00000404971.1 - 10 2854 c.1515C>A c.(1513-1515)atC>atA p.I505I NRXN1_ENST00000401669.2_Silent_p.I465I|NRXN1_ENST00000406316.2_Silent_p.I465I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.I457I|NRXN1_ENST00000405472.3_Silent_p.I457I|NRXN1_ENST00000406859.3_Silent_p.I465I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 465 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCACTCCATGGATCTTCATCT 0.413000 68 77 2.32099e-22 2.49056e-22 1 1 0 HTT 3064 broad.mit.edu 37 4 3237102 3237102 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:3237102G>C ENST00000355072.5 + 62 8693 c.8548G>C c.(8548-8550)Gaa>Caa p.E2850Q HTT_ENST00000513806.1_3'UTR NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2850 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CGTAGGGCCGGAATTTTCAGC 0.522000 12 41 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69732772 69732772 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:69732772G>A ENST00000260363.4 + 17 2130 c.2013G>A c.(2011-2013)cgG>cgA p.R671R KIF23_ENST00000352331.4_Silent_p.R671R|KIF23_ENST00000537891.1_Silent_p.R488R|KIF23_ENST00000395392.2_Silent_p.R671R|KIF23_ENST00000559279.1_Silent_p.R671R|KIF23_ENST00000558585.1_Silent_p.R488R NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 671 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 GACCCTCTCGGGAGCGAGATC 0.393000 57 47 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313900 135313900 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:135313900C>T ENST00000316077.9 - 8 1436 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M MAP7D3_ENST00000370663.5_Missense_Mutation_p.V388M|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V371M NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 406 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) GCTGCTTCCACGCTCACCTCT 0.617000 94 1 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772407 99772407 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:99772407C>T ENST00000370185.3 + 7 2630 c.2133C>T c.(2131-2133)agC>agT p.S711S LPPR4_ENST00000457765.1_Silent_p.S653S|LPPR4_ENST00000370184.1_Silent_p.S553S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 711 phosphatidate phosphatase activity p.S711R(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TAGAGGGCAGCGAAATTGGCT 0.522000 27 24 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52194074 52194074 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:52194074G>A ENST00000282588.6 + 11 1628 c.1170G>A c.(1168-1170)tgG>tgA p.W390* NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 390 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GTAAGGACTGGGTCATGCTTG 0.338000 6 6 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104492632 104492632 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:104492632C>T ENST00000369893.5 + 9 905 c.738C>T c.(736-738)atC>atT p.I246I NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) TGCCAGTCATCATGGAAAGGC 0.547000 33 34 0 0 1 0 0 WISP2 8839 broad.mit.edu 37 20 43348661 43348661 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:43348661G>A ENST00000372868.2 + 3 527 c.184G>A c.(184-186)Gag>Aag p.E62K RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.E62K|WISP2_ENST00000372865.4_Missense_Mutation_p.E62K|RP11-445H22.4_ENST00000427598.1_RNA O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 62 IGFBP N-terminal. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GCGGCTGGGGGAGCCCTGCGA 0.716000 10 36 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67400992 67400992 + Missense_Mutation SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:67400992T>C ENST00000329956.6 + 8 846 c.827T>C c.(826-828)gTa>gCa p.V276A LRRC36_ENST00000563189.1_Missense_Mutation_p.V155A|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Missense_Mutation_p.V8A|LRRC36_ENST00000435835.3_Missense_Mutation_p.V155A NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 276 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GGGTACCAAGTATCTTTTTTG 0.413000 70 51 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88871854 88871854 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:88871854G>A ENST00000301019.4 + 4 1114 c.495G>A c.(493-495)gaG>gaA p.E165E NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 165 Interaction with GMNN. DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) ACAGTGGCGAGAAGGCGCCCG 0.687000 23 61 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21327646 21327646 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:21327646G>A ENST00000399167.2 + 3 322 c.82G>A c.(82-84)Gag>Aag p.E28K AIFM3_ENST00000333607.6_Missense_Mutation_p.E28K|AIFM3_ENST00000399163.2_Missense_Mutation_p.E28K|AIFM3_ENST00000335375.5_Silent_p.R52R|AIFM3_ENST00000440238.2_Missense_Mutation_p.E28K|AIFM3_ENST00000405089.1_Missense_Mutation_p.E34K NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 p.E28K(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGGCAAGGAGGAGCTGTCGGC 0.677000 10 14 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7880243 7880243 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:7880243C>T ENST00000377532.3 + 14 1951 c.1727C>T c.(1726-1728)tCc>tTc p.S576F RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.S568F P56645 PER3_HUMAN period circadian clock 3 568 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) ACAACTTCTTCCTCCTCAGAA 0.383000 34 24 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45956740 45956740 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:45956740C>T ENST00000453424.2 - 6 1469 c.1208G>A c.(1207-1209)cGc>cAc p.R403H MARCH8_ENST00000319836.3_Missense_Mutation_p.R121H|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121H|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.R121H NM_001282866.1 NP_001269795.1 Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 121 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 CTCGCAGCAGCGCGTGTCGGA 0.577000 35 37 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102483642 102483642 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:102483642G>A ENST00000321521.9 + 7 1223 c.650G>A c.(649-651)aGt>aAt p.S217N PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S217N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S217N|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 217 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CAGATTGGCAGTAGAAGTAGT 0.313000 42 43 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186934581 186934581 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:186934581C>G ENST00000367466.3 + 15 1772 c.1620C>G c.(1618-1620)gtC>gtG p.V540V PLA2G4A_ENST00000442353.2_Silent_p.V480V NM_024420.2 NP_077734 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 540 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CTCTGGATGTCAAAAGTAAAA 0.358000 16 59 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211306127 211306127 + Nonsense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:211306127C>A ENST00000443314.1 - 4 790 c.448G>T c.(448-450)Gaa>Taa p.E150* AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.E150*|LANCL1_ENST00000450366.2_Nonsense_Mutation_p.E150*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.E150*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.E150* O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 150 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TAGAGCATTTCATTTGGAGCA 0.363000 70 69 2.23399e-28 2.4305e-28 1 1 0 FNDC7 163479 broad.mit.edu 37 1 109268501 109268501 + Missense_Mutation SNP A A T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:109268501A>T ENST00000370017.3 + 6 1263 c.986A>T c.(985-987)cAc>cTc p.H329L FNDC7_ENST00000271311.2_Missense_Mutation_p.H330L NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 330 Fibronectin type-III 4. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TTGGAAGTACACTGCAACACA 0.453000 95 104 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2899988 2899988 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:2899988C>G ENST00000355842.3 + 8 1682 c.819C>G c.(817-819)taC>taG p.Y273* ADD1_ENST00000503455.2_Nonsense_Mutation_p.Y273*|ADD1_ENST00000264758.7_Nonsense_Mutation_p.Y273*|ADD1_ENST00000398123.2_Nonsense_Mutation_p.Y273*|ADD1_ENST00000398129.1_Nonsense_Mutation_p.Y273*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Y273*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Y273*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Y273* P35611 ADDA_HUMAN adducin 1 (alpha) 273 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCATGACTACCATGGCATTC 0.448000 56 66 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26592073 26592073 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:26592073C>T ENST00000381340.3 - 47 7046 c.6630G>A c.(6628-6630)caG>caA p.Q2210Q NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2210 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGATTTTCTTCTGCCACTTCA 0.368000 25 42 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200534684 200534684 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:200534684C>T ENST00000367350.4 - 24 4213 c.3775G>A c.(3775-3777)Gaa>Aaa p.E1259K NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1259 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GTTCTTTCTTCATCATAACTC 0.333000 7 46 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 39910416 39910416 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:39910416G>A ENST00000350221.3 - 11 1428 c.1219C>T c.(1219-1221)Cag>Tag p.Q407* NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 407 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) CACTTTAACTGTTCTTCAGAG 0.348000 31 84 0 0 1 0 0 S100A7A 338324 broad.mit.edu 37 1 153391682 153391682 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:153391682A>G ENST00000368729.4 + 3 260 c.203A>G c.(202-204)aAg>aGg p.K68R S100A7A_ENST00000329256.2_Missense_Mutation_p.K68R|S100A7A_ENST00000368728.2_Missense_Mutation_p.K68R NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 68 EF-hand 2. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AATGAGGATAAGAAGATTGAT 0.448000 62 17 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74685892 74685892 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:74685892G>C ENST00000361070.4 - 3 744 c.647C>G c.(646-648)tCt>tGt p.S216C RFWD3_ENST00000571750.1_Missense_Mutation_p.S216C NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 216 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 GTCACTGTCAGAATCAGAACT 0.483000 79 43 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 592637 592637 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:592637G>A ENST00000264555.5 + 6 711 c.583G>A c.(583-585)Gag>Aag p.E195K PHRF1_ENST00000533464.1_Missense_Mutation_p.E191K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E195K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E194K NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 195 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GAGCGACCGTGAGGACAGGCT 0.647000 76 94 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36341295 36341295 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:36341295C>G ENST00000378910.5 - 5 578 c.579G>C c.(577-579)caG>caC p.Q193H NPHS1_ENST00000353632.6_Missense_Mutation_p.Q193H NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 193 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGAAGAGTTTCTGCTGGGAGC 0.562000 28 59 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32369352 32369352 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:32369352G>A ENST00000548411.1 + 2 566 c.385G>A c.(385-387)Gaa>Aaa p.E129K BICD1_ENST00000281474.5_Missense_Mutation_p.E129K NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 129 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGTACAGGCAGAAAACGAGAG 0.483000 34 24 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324097 9324097 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:9324097C>T ENST00000377403.2 + 5 1847 c.1545C>T c.(1543-1545)ttC>ttT p.F515F H6PD_ENST00000602477.1_Silent_p.F526F NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 515 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) ACTTTGAGTTCAGTAGCGGCC 0.637000 56 174 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6091021 6091021 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:6091021G>A ENST00000261405.5 - 42 7472 c.7218C>T c.(7216-7218)ccC>ccT p.P2406P NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2406 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGTACCCAAGGGGACAGCTCA 0.557000 61 51 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119419747 119419747 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:119419747C>T ENST00000267260.4 + 1 448 c.60C>T c.(58-60)ttC>ttT p.F20F NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 20 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GAGGAACCTTCAAAGCGGTGG 0.612000 6 18 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236437 140236437 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140236437G>A ENST00000307360.5 + 1 804 c.804G>A c.(802-804)tcG>tcA p.S268S PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.S268S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018901.2 NP_061724.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTGATTCGGATGAAGGAA 0.378000 47 63 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174231117 174231117 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:174231117G>A ENST00000306721.3 + 8 1245 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q CDCA7_ENST00000347703.3_Missense_Mutation_p.R302Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.R260Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.R337Q|CDCA7_ENST00000392567.2_Intron NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 302 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) CCCTGCCTTCGAAACCGTTAT 0.542000 66 85 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100087420 100087420 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:100087420G>A ENST00000395220.1 + 27 2890 c.1955G>A c.(1954-1956)tGg>tAg p.W652* CCDC180_ENST00000529487.1_Silent_p.L541L|CCDC180_ENST00000411667.2_Silent_p.L538L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.L680L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.L541L coiled-coil domain containing 180 TGCAGGAGCTGGAGCTGGAGA 0.572000 11 0 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039230 11039230 + RNA SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr21:11039230T>C ENST00000470054.1 - 0 973 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTCTTTGGATACCACTGTTT 0.408000 43 226 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40633063 40633063 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:40633063G>A ENST00000559313.1 - 1 105 c.90C>T c.(88-90)ctC>ctT p.L30L C15orf52_ENST00000557973.1_5'UTR NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 30 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) AGCCCCTGGGGAGCCAGAGTG 0.647000 9 25 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76995480 76995480 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:76995480C>G ENST00000372538.3 - 2 198 c.116G>C c.(115-117)cGa>cCa p.R39P COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 39 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) TCGCCGGCCTCGCCATGGGGG 0.721000 7 10 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64122797 64122797 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:64122797C>T ENST00000356786.5 + 25 4275 c.4231C>T c.(4231-4233)Cct>Tct p.P1411S CCDC88B_ENST00000359902.2_Silent_p.A515A|CCDC88B_ENST00000301897.4_Missense_Mutation_p.P74S|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1411 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTCATTCAGCCCTGGGGACAC 0.657000 OREG0021052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 172 0 0 1 0 0 TRAV26-1 28657 broad.mit.edu 37 14 22591480 22591480 + RNA SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:22591480G>A ENST00000390455.3 + 0 205 ATTTGTCCTTGAAGTATGAGG 0.463000 19 17 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241363 34241363 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:34241363C>G ENST00000374114.3 - 3 2145 c.1882G>C c.(1882-1884)Gag>Cag p.E628Q RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.E628Q|RBM12_ENST00000359646.1_Missense_Mutation_p.E628Q|CPNE1_ENST00000397443.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 628 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGATTTTTCTCAATCTCTCTC 0.463000 129 63 0 0 1 0 0 KIAA0101 9768 broad.mit.edu 37 15 64668995 64668995 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:64668995C>T ENST00000300035.4 - 3 375 c.237G>A c.(235-237)gaG>gaA p.E79E KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Silent_p.E52E|KIAA0101_ENST00000558008.1_Silent_p.E79E NM_014736.4 NP_055551.1 Q15004 PAF_HUMAN KIAA0101 79 E -> K (in dbSNP:rs11554313). mitochondrion|nucleus central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 GAATCTGATTCTCTTTTTCAG 0.408000 36 23 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58076269 58076269 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:58076269C>G ENST00000219271.3 + 7 2084 c.1299C>G c.(1297-1299)ttC>ttG p.F433L NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 433 Hemopexin-like 2. protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TTGTCTTTTTCAAAGGTGAGC 0.572000 17 80 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49805527 49805527 + RNA SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:49805527C>T ENST00000527477.1 + 0 1215 GCCCAAGGCCCGGGTGGTGGC 0.547000 28 22 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34103188 34103188 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:34103188G>C ENST00000389232.4 + 72 10277 c.10207G>C c.(10207-10209)Gat>Cat p.D3403H RYR3_ENST00000415757.3_Missense_Mutation_p.D3398H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3403 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGGGACACAGATGAAGAGGT 0.483000 8 21 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798591 212798591 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:212798591G>A ENST00000294829.3 + 1 803 c.372G>A c.(370-372)ctG>ctA p.L124L RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 124 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TTCTGCCCCTGAGGTTTGTAC 0.537000 27 117 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532281 40532281 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:40532281C>T ENST00000297737.6 - 5 665 c.519G>A c.(517-519)gcG>gcA p.A173A ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 173 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CAACTCTTGCCGCATTCTTTT 0.478000 92 131 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186360338 186360338 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:186360338C>G ENST00000265029.3 + 3 516 c.415C>G c.(415-417)Ctt>Gtt p.L139V RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Intron|FETUB_ENST00000382136.3_Missense_Mutation_p.L102V|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.L139V|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_Intron NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 139 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TAACTGTACTCTTCGCCCAGG 0.348000 31 37 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71883290 71883290 + Splice_Site SNP A A C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:71883290A>C ENST00000258104.3 + 42 4786 c.e42-1 DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATGTGTGGCAGGTCTATGAC 0.502000 88 111 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72138391 72138391 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:72138391G>A ENST00000555818.1 + 8 3159 c.2811G>A c.(2809-2811)gaG>gaA p.E937E SIPA1L1_ENST00000358550.2_Silent_p.E937E|SIPA1L1_ENST00000537413.1_Silent_p.E412E|SIPA1L1_ENST00000381232.3_Silent_p.E937E NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 937 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AGATCAAAGAGATTGTCAAAA 0.403000 15 39 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102482317 102482317 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:102482317G>C ENST00000321521.9 + 6 1147 c.574G>C c.(574-576)Gaa>Caa p.E192Q PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E192Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E192Q|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 192 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGTCAGTGCAGAAGATCACAA 0.353000 35 60 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 125032343 125032343 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:125032343G>C ENST00000360647.4 - 4 627 c.142C>G c.(142-144)Caa>Gaa p.Q48E ZNF148_ENST00000485866.1_Missense_Mutation_p.Q48E|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q48E|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q48E NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 48 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CTTCGATCTTGAAGTACTGAA 0.453000 32 133 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49631272 49631272 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:49631272G>C ENST00000334186.4 + 2 491 c.142G>C c.(142-144)Gag>Cag p.E48Q PPFIA3_ENST00000602351.1_Missense_Mutation_p.E48Q NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 48 cell surface|cytoplasm protein binding p.E48K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GACGCTGCGCGAGGCACAGGA 0.736000 39 33 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76256956 76256956 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:76256956C>T ENST00000529032.1 + 19 3389 c.3389C>T c.(3388-3390)tCa>tTa p.S1130L C11orf30_ENST00000525038.1_Missense_Mutation_p.S1131L|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1145L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1039L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1131L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1130L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1032L Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1130 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AAGCTGACATCACCAGTTACA 0.438000 48 56 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585318 7585318 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:7585318C>G ENST00000379802.3 + 24 8164 c.7823C>G c.(7822-7824)tCt>tGt p.S2608C DSP_ENST00000418664.2_Missense_Mutation_p.S2009C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2608 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGGAGCAGCTCTTTTTCAGAC 0.458000 70 64 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15629087 15629087 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:15629087G>A ENST00000281513.5 - 12 1039 c.1014C>T c.(1012-1014)ttC>ttT p.F338F NBAS_ENST00000441750.1_Silent_p.F338F NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 338 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GTTTCCCTGAGAAGTGAATGG 0.453000 50 70 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996492 140996492 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:140996492C>A ENST00000285879.4 + 4 3588 c.3302C>A c.(3301-3303)tCc>tAc p.S1101Y MAGEC1_ENST00000406005.2_Missense_Mutation_p.S168Y NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1101 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ACCTTTCCATCCTCTTACAAG 0.453000 HNSCC(15;0.026) 4 120 0.00909568 0.00913455 1 1 0 FLAD1 80308 broad.mit.edu 37 1 154962920 154962920 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:154962920G>A ENST00000292180.3 + 5 1792 c.1470G>A c.(1468-1470)cgG>cgA p.R490R FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Silent_p.R31R|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Silent_p.R393R|FLAD1_ENST00000368432.1_Silent_p.R393R NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 490 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACCCGCCGGACTGACCCCT 0.627000 20 78 0 0 1 0 0 VPS28 51160 broad.mit.edu 37 8 145649499 145649499 + Missense_Mutation SNP C C T rs151274166 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:145649499C>T ENST00000377348.2 - 9 562 c.473G>A c.(472-474)cGa>cAa p.R158Q VPS28_ENST00000526054.1_Missense_Mutation_p.R158Q|VPS28_ENST00000292510.4_Missense_Mutation_p.R158Q|VPS28_ENST00000529182.1_Missense_Mutation_p.R158Q NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 158 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CATCAGCTCTCGCAGGTCGGG 0.682000 50 70 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42144787 42144787 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:42144787G>A ENST00000444063.1 + 4 694 c.562G>A c.(562-564)Gag>Aag p.E188K L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E188K|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E256K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E188K|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E256K Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 188 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TAGCACCCCAGAGAGTGAGGA 0.522000 16 58 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133945110 133945110 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:133945110G>A ENST00000361069.4 + 17 3075 c.2942G>A c.(2941-2943)gGc>gAc p.G981D LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 981 Laminin EGF-like 11. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CACGAGAACGGCACATGCGTG 0.657000 16 0 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11147910 11147910 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:11147910C>T ENST00000544779.1 - 8 897 c.892G>A c.(892-894)Gtg>Atg p.V298M EXOSC10_ENST00000376936.4_Missense_Mutation_p.V298M|EXOSC10_ENST00000304457.7_Missense_Mutation_p.V298M Q01780 EXOSX_HUMAN exosome component 10 298 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding p.V298M(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTGAGTTCCACGAGTTCATCC 0.373000 58 68 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 61 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048704 32048704 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:32048704G>A ENST00000438447.1 + 8 1967 c.1579G>A c.(1579-1581)Gac>Aac p.D527N PDZD2_ENST00000282493.3_Missense_Mutation_p.D527N O15018 PDZD2_HUMAN PDZ domain containing 2 527 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCGGAATGGGGACCCCCGGAT 0.557000 25 28 0 0 1 0 0 ZNF346 23567 broad.mit.edu 37 5 176471534 176471534 + Splice_Site SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:176471534G>C ENST00000503039.1 + 5 596 c.592G>C c.(592-594)Gcc>Ccc p.A198P ZNF346_ENST00000511834.1_Splice_Site_p.A173P|ZNF346_ENST00000503425.1_Splice_Site_p.A141P|ZNF346_ENST00000261948.4_Splice_Site_p.A198P|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000358149.3_Splice_Site_p.A173P|ZNF346_ENST00000512315.1_Intron Q9UL40 ZN346_HUMAN zinc finger protein 346 173 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) TAAGGTGGAAGGTACTGGTTT 0.552000 39 54 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170857818 170857818 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:170857818C>T ENST00000272793.5 + 27 3973 c.3923C>T c.(3922-3924)tCa>tTa p.S1308L UBR3_ENST00000392631.1_Missense_Mutation_p.S129L|UBR3_ENST00000418381.1_Missense_Mutation_p.S1308L Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1308 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTGAAGAGTTCATGTCTCTTG 0.313000 18 61 0 0 1 0 0 GLI4 2738 broad.mit.edu 37 8 144358467 144358467 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:144358467G>C ENST00000340042.1 + 4 709 c.624G>C c.(622-624)gaG>gaC p.E208D GLI4_ENST00000523812.1_3'UTR|ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.E208D NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 208 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) ACACGGGCGAGAAGCCCTACG 0.672000 23 21 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940774 144940774 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:144940774G>A ENST00000525985.1 - 2 6719 c.6648C>T c.(6646-6648)gtC>gtT p.V2216V P58107 EPIPL_HUMAN epiplakin 1 2216 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTAGCGCTTGACGCGGTCGT 0.627000 86 78 0 0 1 0 0 TRAJ52 28703 broad.mit.edu 37 14 22955247 22955247 + RNA SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:22955247G>C ENST00000390486.1 + 0 32 ATGGAAAGCTGACATTTGGAC 0.473000 12 12 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74054024 74054024 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:74054024C>A ENST00000298198.4 - 11 1659 c.1348G>T c.(1348-1350)Ggg>Tgg p.G450W NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 450 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) GCACTCACCCCATCTTTATCC 0.368000 61 74 3.63617e-18 3.86652e-18 1 1 0 ARHGEF19 128272 broad.mit.edu 37 1 16534659 16534659 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:16534659G>A ENST00000270747.3 - 3 610 c.474C>T c.(472-474)gtC>gtT p.V158V NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 158 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GCTCTAGGAAGACAGCGTGGG 0.662000 28 38 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91715563 91715563 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:91715563C>T ENST00000359028.2 + 37 9283 c.9058C>T c.(9058-9060)Cat>Tat p.H3020Y AKAP9_ENST00000356239.3_Missense_Mutation_p.H3016Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.H2966Y Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3020 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCTCAATCTCATGAGAGCTT 0.358000 T BRAF papillary thyroid 74 80 0 0 1 0 0 NADK2 133686 broad.mit.edu 37 5 36219758 36219758 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:36219758G>A ENST00000397338.1 - 5 316 c.95C>T c.(94-96)cCc>cTc p.P32L NADK2_ENST00000506945.1_Missense_Mutation_p.P32L|NADK2_ENST00000381937.4_Missense_Mutation_p.P195L|NADK2_ENST00000282512.3_Missense_Mutation_p.P32L|NADK2_ENST00000514504.1_Missense_Mutation_p.P195L NAD kinase 2, mitochondrial ATATCGAACGGGCAGGCATAA 0.348000 29 42 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861711 14861711 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:14861711C>A ENST00000285046.5 + 1 1243 c.1133C>A c.(1132-1134)cCa>cAa p.P378Q FGD5_ENST00000543601.1_Missense_Mutation_p.P137Q NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 378 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GAGCAGGCACCAAAGCTGGGG 0.592000 45 43 5.44703e-19 5.81842e-19 1 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91338436 91338436 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:91338436G>C ENST00000261991.3 - 17 2564 c.2391C>G c.(2389-2391)ttC>ttG p.F797L RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F718L NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 797 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CTGAGTCCGAGAACTGGAAGA 0.473000 61 83 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898246 23898246 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:23898246C>T ENST00000355349.3 - 14 1487 c.1325G>A c.(1324-1326)cGc>cAc p.R442H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 442 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGCATTGATGCGCGTCACCAT 0.557000 50 56 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133911664 133911664 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:133911664C>T ENST00000361069.4 + 4 1054 c.921C>T c.(919-921)ttC>ttT p.F307F LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 307 Laminin EGF-like 1. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GCCTGCCCTTCTTCCAGGACC 0.701000 60 2 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3237383 3237383 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:3237383C>G ENST00000355072.5 + 63 8808 c.8663C>G c.(8662-8664)tCt>tGt p.S2888C NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2888 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTCCTGCTCTCTGAGCAGCTC 0.627000 4 33 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154524521 154524521 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:154524521G>C ENST00000409663.3 + 24 2755 c.2703G>C c.(2701-2703)atG>atC p.M901I KIAA0922_ENST00000409959.3_Missense_Mutation_p.M902I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M818I NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 901 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TGGAATTCATGAAAACAAGAC 0.398000 35 47 0 0 1 0 0 EMP3 2014 broad.mit.edu 37 19 48832670 48832670 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:48832670C>T ENST00000270221.6 + 4 544 c.243C>T c.(241-243)ttC>ttT p.F81F EMP3_ENST00000596315.1_Silent_p.F12F|EMP3_ENST00000597279.1_Silent_p.F81F NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 81 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) GTCTCTCCTTCATCCTGTTCA 0.592000 71 50 0 0 1 0 0 PPP1R36 145376 broad.mit.edu 37 14 65031549 65031549 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:65031549C>G ENST00000298705.1 + 4 359 c.263C>G c.(262-264)tCa>tGa p.S88* RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 88 GGTCCAGCTTCAGACAGGTAG 0.408000 146 158 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562945 22562945 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:22562945G>C ENST00000419308.2 - 2 1119 c.935C>G c.(934-936)tCg>tGg p.S312W FOXA2_ENST00000377115.4_Missense_Mutation_p.S306W NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 312 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GGAGGCGCTCGAGTGAGGCGA 0.766000 7 14 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77969763 77969763 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:77969763G>C ENST00000237654.4 - 7 1319 c.743C>G c.(742-744)tCt>tGt p.S248C CCNI_ENST00000537948.1_Missense_Mutation_p.S234C NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 248 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 CTGCAGAGTAGAAAGGTGATG 0.478000 30 28 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173916674 173916674 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:173916674C>G ENST00000367696.2 - 15 2921 c.2570G>C c.(2569-2571)aGa>aCa p.R857T RC3H1_ENST00000367694.2_Missense_Mutation_p.R857T|RC3H1_ENST00000258349.4_Missense_Mutation_p.R857T Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 857 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TGCTGCTCTTCTCTGAAGATC 0.438000 24 74 0 0 1 0 0 GINS4 84296 broad.mit.edu 37 8 41397245 41397245 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:41397245G>T ENST00000523277.2 + 5 513 c.346G>T c.(346-348)Gag>Tag p.E116* GINS4_ENST00000276533.3_Nonsense_Mutation_p.E116*|RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Nonsense_Mutation_p.E116* Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 116 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) AACACGTCCTGAGGGGGAGCC 0.507000 36 43 5.43694e-19 5.81842e-19 1 1 0 FSD1 79187 broad.mit.edu 37 19 4305963 4305963 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:4305963C>T ENST00000221856.6 + 2 183 c.36C>T c.(34-36)atC>atT p.I12I FSD1_ENST00000597590.1_Silent_p.I12I NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 12 cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGATCATCAAAACACTGG 0.527000 19 83 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38102674 38102674 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:38102674C>T ENST00000592533.1 + 5 825 c.493C>T c.(493-495)Cac>Tac p.H165Y ZNF540_ENST00000316433.4_Missense_Mutation_p.H165Y|ZNF540_ENST00000589117.1_Missense_Mutation_p.H133Y|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000343599.5_Missense_Mutation_p.H165Y NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGAATTCACAATAGTGA 0.338000 20 98 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61236138 61236138 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:61236138C>T ENST00000316752.6 - 3 400 c.139G>A c.(139-141)Gaa>Aaa p.E47K PUS10_ENST00000407787.1_Missense_Mutation_p.E47K NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 47 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TTCTGTAGTTCATTGAGCAAC 0.353000 15 18 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143565395 143565395 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:143565395G>C ENST00000517894.1 + 12 3082 c.2188G>C c.(2188-2190)Gag>Cag p.E730Q BAI1_ENST00000323289.5_Missense_Mutation_p.E730Q O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 730 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAAGTGGGAGGAGGCCCAGCT 0.622000 83 68 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428949 48428949 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:48428949C>T ENST00000224605.2 - 2 1202 c.937G>A c.(937-939)Gcc>Acc p.A313T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 313 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.A313S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TGTGCGTGGGCGCGCGGCGGC 0.721000 12 39 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53667911 53667911 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53667911G>A ENST00000600412.1 - 2 1752 c.1637C>T c.(1636-1638)tCa>tTa p.S546L ZNF665_ENST00000396424.3_Missense_Mutation_p.S611L Q9H7R5 ZN665_HUMAN zinc finger protein 665 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGCAAGATGTGAATTTTGAGT 0.393000 39 80 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308220 20308220 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:20308220G>A ENST00000335117.8 + 4 758 c.701G>A c.(700-702)aGa>aAa p.R234K CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 ACTCATACTAGAGAGAAACCC 0.363000 20 48 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65687479 65687479 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:65687479C>G ENST00000352385.2 - 8 1738 c.1529G>C c.(1528-1530)gGa>gCa p.G510A NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 510 Fibronectin type-III 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GCGGCTGGCTCCCAGCTGGGA 0.567000 9 66 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017839 32017839 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:32017839C>G ENST00000375244.3 - 27 9576 c.9375G>C c.(9373-9375)aaG>aaC p.K3125N TNXB_ENST00000375247.2_Missense_Mutation_p.K3123N P22105 TENX_HUMAN tenascin XB 3170 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACAGGTTCATCTTGTATTTAT 0.632000 29 90 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669303 53669303 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53669303G>T ENST00000600412.1 - 2 360 c.245C>A c.(244-246)tCa>tAa p.S82* ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S147* Q9H7R5 ZN665_HUMAN zinc finger protein 665 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGGGAGATGTGACTGAAAGCT 0.378000 58 95 3.73128e-16 3.94091e-16 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155254201 155254201 + Silent SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:155254201G>T ENST00000357232.4 - 9 1661 c.1662C>A c.(1660-1662)ctC>ctA p.L554L DCHS2_ENST00000339452.1_Silent_p.L1053L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCTCGGCCCTGAGAGTCAGCG 0.642000 50 39 1.19451e-25 1.28766e-25 1 1 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000422325.1_Silent_p.D49D 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 CCAGCATCACGTCCCTGTACA 0.502000 4 9 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142399856 142399856 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:142399856G>C ENST00000258042.1 - 2 747 c.607C>G c.(607-609)Caa>Gaa p.Q203E NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 203 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCATCTGTTTGAGGGTATGGG 0.413000 83 95 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128781 147128781 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:147128781C>T ENST00000282928.4 + 1 1611 c.882C>T c.(880-882)cgC>cgT p.R294R NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 294 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACCACATCCGCGTGCACACGG 0.572000 18 135 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 74 0 0 1 0 0 TRAV18 28665 broad.mit.edu 37 14 22471899 22471899 + RNA SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:22471899T>C ENST00000390446.3 + 0 427 CGTGTACTACTGCGCTCTGAG 0.602000 25 14 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156737729 156737729 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:156737729C>G ENST00000271526.4 + 1 438 c.166C>G c.(166-168)Cag>Gag p.Q56E PRCC_ENST00000491853.1_Intron|PRCC_ENST00000353233.3_Missense_Mutation_p.Q56E NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 56 Mediates interaction with MAD2L2. cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCGCCCCCTCAGATGCTGGC 0.697000 T TFE3 papillary renal 9 3 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45504700 45504700 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:45504700C>T ENST00000359600.5 - 8 2007 c.1802G>A c.(1801-1803)tGg>tAg p.W601* NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 601 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GTGGCCCACCCAGCCCTCCAG 0.512000 47 46 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751448 19751448 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:19751448G>A ENST00000400113.3 - 4 779 c.675C>T c.(673-675)acC>acT p.T225T NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 225 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GATTGAGGTTGGTGTACGTGG 0.552000 99 139 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69776432 69776432 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:69776432G>A ENST00000268802.5 - 9 1071 c.1042C>T c.(1042-1044)Cag>Tag p.Q348* CTD-2033A16.3_ENST00000575838.1_RNA NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 348 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGTCGCAGCTGAGGGAAGCGC 0.562000 63 53 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711077 41711077 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr21:41711077G>A ENST00000400454.1 - 7 1953 c.1476C>T c.(1474-1476)gtC>gtT p.V492V NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 492 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTACAGGACGACTCCCGCCG 0.522000 39 2 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36748211 36748211 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:36748211C>G ENST00000354618.5 + 3 271 c.47C>G c.(46-48)tCa>tGa p.S16* THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S16* NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 16 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCTTCTCGCTCAAGATCTGCA 0.448000 T USP6 aneurysmal bone cysts 38 42 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196089511 196089511 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:196089511G>C ENST00000296328.4 - 9 956 c.882C>G c.(880-882)atC>atG p.I294M UBXN7_ENST00000428095.1_Missense_Mutation_p.I132M|UBXN7_ENST00000535858.1_Missense_Mutation_p.I146M NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 294 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AGGAGGCTCTGATGGCAGCTT 0.413000 66 70 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112272 57112272 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:57112272C>T ENST00000454682.1 - 3 3323 c.3042G>A c.(3040-3042)gtG>gtA p.V1014V NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGGAGGAGTCACAGCTGGGG 0.657000 T BCL6 NHL 4 94 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178936438 178936438 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:178936438C>T ENST00000286063.6 - 1 1044 c.727G>A c.(727-729)Gtg>Atg p.V243M PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCCCCTTCCACCAGGAAAAGA 0.502000 Primary Pigmented Nodular Adrenocortical Disease, Familial 42 53 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116732089 116732089 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:116732089G>A ENST00000375300.1 - 18 2187 c.2182C>T c.(2182-2184)Cag>Tag p.Q728* SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q670*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q670*|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q728*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q569*|SIK3_ENST00000375288.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 670 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CTTGAAGGCTGAATCCTTAAC 0.463000 OREG0003492 type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 33 40 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712211 140712211 + Missense_Mutation SNP C C T rs149280390 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:140712211C>T ENST00000517417.1 + 1 1960 c.1960C>T c.(1960-1962)Ctc>Ttc p.L654F PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L654F NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCCCCCGCTCTCCGCCAC 0.697000 89 79 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15855611 15855611 + Missense_Mutation SNP G G C rs143679565 TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:15855611G>C ENST00000375847.3 + 2 175 c.11G>C c.(10-12)aGa>aCa p.R4T DNAJC16_ENST00000375838.1_Missense_Mutation_p.R4T|DNAJC16_ENST00000375849.1_Missense_Mutation_p.R4T NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 4 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ATGGAAGTGAGAAAGTTGAGC 0.438000 54 64 0 0 1 0 0 RFXAP 5994 broad.mit.edu 37 13 37393936 37393936 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:37393936G>T ENST00000255476.2 + 1 576 c.442G>T c.(442-444)Gag>Tag p.E148* NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 148 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) AGGCTGCAGCGAGACCACGAG 0.622000 7 10 1.06961e-07 1.10488e-07 1 1 0 PER3 8863 broad.mit.edu 37 1 7887272 7887272 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:7887272G>A ENST00000377532.3 + 17 2507 c.2283G>A c.(2281-2283)tcG>tcA p.S761S RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.S753S P56645 PER3_HUMAN period circadian clock 3 753 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCAGCTCGAACACCGGCT 0.667000 26 56 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123310939 123310939 + Silent SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:123310939T>C ENST00000358487.5 - 5 761 c.489A>G c.(487-489)gaA>gaG p.E163E FGFR2_ENST00000346997.2_Silent_p.E163E|FGFR2_ENST00000360144.3_Silent_p.E74E|FGFR2_ENST00000369056.1_Silent_p.E163E|FGFR2_ENST00000359354.2_Silent_p.E163E|FGFR2_ENST00000369059.1_Silent_p.E48E|FGFR2_ENST00000351936.6_Silent_p.E163E|FGFR2_ENST00000356226.4_Silent_p.E48E|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.E163E|FGFR2_ENST00000357555.5_Silent_p.E74E|FGFR2_ENST00000369060.4_Silent_p.E163E|FGFR2_ENST00000457416.2_Silent_p.E163E NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 163 Heparin-binding.|Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGAGCCGCTTTTCCATCTTTT 0.517000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 43 45 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725385 87725385 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:87725385C>G ENST00000305344.5 + 2 1036 c.333C>G c.(331-333)ctC>ctG p.L111L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GCTCCATCCTCCACCTCTGTG 0.547000 51 62 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38851437 38851437 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:38851437C>G ENST00000409235.3 + 16 1949 c.1834C>G c.(1834-1836)Ctg>Gtg p.L612V CATSPERG_ENST00000410018.1_Missense_Mutation_p.L572V|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 612 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GGAGCAGCTTCTGATGTATCA 0.612000 12 23 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22145090 22145090 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:22145090C>G ENST00000356766.6 + 7 941 c.793C>G c.(793-795)Caa>Gaa p.Q265E PIWIL2_ENST00000454009.2_Missense_Mutation_p.Q265E|PIWIL2_ENST00000521356.1_Missense_Mutation_p.Q265E NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 265 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GAAGGACCATCAAGCTGTCAC 0.438000 OREG0018608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 46 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122078510 122078510 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:122078510C>T ENST00000334010.7 - 16 2785 c.2364G>A c.(2362-2364)atG>atA p.M788I RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.M784I|CADPS2_ENST00000449022.2_Missense_Mutation_p.M787I|CADPS2_ENST00000412584.2_Missense_Mutation_p.M784I NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 787 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CAATATCTTTCATTAAAACCT 0.413000 18 19 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678383 37678383 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:37678383G>A ENST00000379800.3 - 1 1420 c.1011C>T c.(1009-1011)aaC>aaT p.N337N NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 337 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TTCACGCTTAGTTATCTTTCA 0.458000 64 54 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150775945 150775945 + Silent SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:150775945C>G ENST00000297532.6 - 3 746 c.669G>C c.(667-669)ctG>ctC p.L223L FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.L82L|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Intron NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 223 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGCTGCTGATCAGATGCTGCC 0.627000 17 34 0 0 1 0 0 SURF4 6836 broad.mit.edu 37 9 136230392 136230392 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:136230392C>T ENST00000371989.3 - 6 916 c.787G>A c.(787-789)Gat>Aat p.D263N SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2 NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1 O15260 SURF4_HUMAN surfeit 4 263 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) TTCTTCTCATCCATGGAGACA 0.567000 42 2 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121220493 121220493 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:121220493C>G ENST00000297848.3 + 11 1484 c.1214C>G c.(1213-1215)tCt>tGt p.S405C COL14A1_ENST00000537875.1_Missense_Mutation_p.S405C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S405C|COL14A1_ENST00000247781.3_Missense_Mutation_p.S310C NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 405 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGAACTGTATCTTCCACAGTG 0.388000 16 18 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112340729 112340729 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:112340729G>C ENST00000361804.4 + 8 623 c.497G>C c.(496-498)aGa>aCa p.R166T SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 166 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GCTGGTACTAGAGTGTATGAC 0.323000 39 37 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7844765 7844765 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:7844765C>T ENST00000356708.7 + 8 917 c.838C>T c.(838-840)Caa>Taa p.Q280* ATP5C1_ENST00000541227.1_Nonsense_Mutation_p.Q233*|ATP5C1_ENST00000335698.4_Nonsense_Mutation_p.Q280*|ATP5C1_ENST00000493053.1_3'UTR NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 280 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 CCGTACCCGCCAAGCTGTCAT 0.363000 27 23 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38743562 38743562 + Silent SNP T T C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:38743562T>C ENST00000359357.3 + 11 1400 c.1146T>C c.(1144-1146)taT>taC p.Y382Y DNAH8_ENST00000441566.1_Silent_p.Y382Y|DNAH8_ENST00000449981.2_Silent_p.Y599Y dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCAAACATATTCAACCTTGA 0.299000 27 22 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52488661 52488661 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:52488661C>T ENST00000261839.7 - 39 5001 c.4840G>A c.(4840-4842)Gaa>Aaa p.E1614K RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1614 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AGCCATTCTTCTAAGTAGCTG 0.488000 35 75 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113915001 113915001 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:113915001G>A ENST00000451881.1 + 19 2061 c.1812G>A c.(1810-1812)atG>atA p.M604I CUL4A_ENST00000326335.4_Missense_Mutation_p.M604I|CUL4A_ENST00000375441.3_Missense_Mutation_p.M604I|CUL4A_ENST00000375440.4_Missense_Mutation_p.M704I NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 704 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TCAGAATAATGAAGATGAGAA 0.318000 11 13 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518804 73518804 + Missense_Mutation SNP G G C rs146026377 byFrequency TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:73518804G>C ENST00000545030.1 - 2 1625 c.1551C>G c.(1549-1551)atC>atG p.I517M EGR4_ENST00000436467.2_Missense_Mutation_p.I414M NM_001965.3 NP_001956.3 B7ZKU3 B7ZKU3_HUMAN early growth response 4 413 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TGCGGAGGCAGATGCGGCACT 0.662000 29 42 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82643221 82643221 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:82643221G>A ENST00000533655.1 + 6 1053 c.841G>A c.(841-843)Gag>Aag p.E281K C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.E281K|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000525388.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 281 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CTCCATTGCAGAGGCCACTGG 0.408000 43 53 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440305 40440305 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:40440305C>T ENST00000319592.4 - 4 1315 c.606G>A c.(604-606)gaG>gaA p.E202E RBM47_ENST00000295971.7_Silent_p.E202E|RBM47_ENST00000381795.6_Silent_p.E202E|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.E202E|RBM47_ENST00000514014.1_Silent_p.E164E A0AV96 RBM47_HUMAN RNA binding motif protein 47 202 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CGCGGTGGCTCTCGTACTCCA 0.662000 74 61 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324568 9324568 + Silent SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:9324568C>A ENST00000377403.2 + 5 2318 c.2016C>A c.(2014-2016)atC>atA p.I672I H6PD_ENST00000602477.1_Silent_p.I683I NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 672 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCGCCCAGATCTATGCCAGGG 0.652000 33 96 1.74807e-11 1.82171e-11 1 1 0 RAB33A 9363 broad.mit.edu 37 X 129318670 129318670 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chrX:129318670G>T ENST00000257017.4 + 2 1084 c.670G>T c.(670-672)Gag>Tag p.E224* NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 224 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 GCAGAAACTGGAGTTCCCACA 0.443000 32 1 2.61193e-14 2.75248e-14 1 1 0 PDE4B 5142 broad.mit.edu 37 1 66798096 66798096 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:66798096C>T ENST00000371045.5 + 1 410 c.24C>T c.(22-24)ttC>ttT p.F8F PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron NM_001037339.1 NP_001032416.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 0 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GGGGCACCTTCAGTAGCACCG 0.557000 48 42 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 62 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18218020 18218020 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:18218020C>T ENST00000388870.2 + 21 2533 c.2292C>T c.(2290-2292)atC>atT p.I764I KDM1B_ENST00000297792.5_Silent_p.I531I|KDM1B_ENST00000397244.1_Silent_p.I532I|KDM1B_ENST00000546309.2_Silent_p.I54I Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 763 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 ACCCATGGATCCAGATGGCAT 0.463000 38 47 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668734 53668734 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53668734G>C ENST00000600412.1 - 2 929 c.814C>G c.(814-816)Cag>Gag p.Q272E ZNF665_ENST00000396424.3_Missense_Mutation_p.Q337E Q9H7R5 ZN665_HUMAN zinc finger protein 665 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGGATTGTCTGATGGGTAGTC 0.443000 43 79 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150799060 150799060 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:150799060G>A ENST00000358595.5 - 13 1401 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y ARNT_ENST00000505755.1_Missense_Mutation_p.H386Y|ARNT_ENST00000515192.1_Missense_Mutation_p.H387Y|ARNT_ENST00000354396.2_Missense_Mutation_p.H401Y NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 401 PAS 2. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTTCAGGATGACAGAATTCT 0.328000 T ETV6 AML 84 36 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75130426 75130426 + Silent SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:75130426G>C ENST00000356357.4 - 20 2984 c.2469C>G c.(2467-2469)ctC>ctG p.L823L AREL1_ENST00000557401.1_Intron NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 AGAGTGGTCAGAGCATGCCAA 0.527000 56 96 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56883883 56883883 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:56883883G>T ENST00000257287.4 + 22 2996 c.2872G>T c.(2872-2874)Gaa>Taa p.E958* NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 958 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TCGATTAGAAGAAGAGCTGAG 0.338000 13 15 9.31168e-06 9.53484e-06 1 1 0 CCDC70 83446 broad.mit.edu 37 13 52440136 52440136 + Missense_Mutation SNP G G A rs78877659 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:52440136G>A ENST00000242819.4 + 2 918 c.622G>A c.(622-624)Gga>Aga p.G208R NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 208 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CCACATTGCCGGAGAGCAGAT 0.607000 4 114 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812136 2812136 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:2812136C>T ENST00000301740.8 + 11 2156 c.1607C>T c.(1606-1608)tCt>tTt p.S536F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 536 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CGCTCTAGGTCTCCTCAGCGA 0.602000 36 48 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77987224 77987224 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:77987224C>G ENST00000310924.2 - 2 238 c.123G>C c.(121-123)aaG>aaC p.K41N NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 41 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) AGACATTGTTCTTGGAGTAGA 0.692000 17 8 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100860035 100860035 + Nonsense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:100860035C>A ENST00000223127.3 - 2 540 c.142G>T c.(142-144)Gaa>Taa p.E48* NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 48 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCCTCGGTTTCAGCTGTGGCC 0.612000 27 40 2.41591e-17 2.56316e-17 1 1 0 DALRD3 55152 broad.mit.edu 37 3 49053945 49053945 + Splice_Site SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:49053945C>G ENST00000440857.1 - 9 1265 c.e9-1 DALRD3_ENST00000395462.4_Splice_Site|DALRD3_ENST00000341949.4_Splice_Site|DALRD3_ENST00000313778.5_Splice_Site|DALRD3_ENST00000441576.2_Splice_Site Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGGCTGGGTCTGAGGGAGTA 0.567000 23 21 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77078200 77078200 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:77078200C>G ENST00000539857.2 + 6 950 c.535C>G c.(535-537)Cat>Gat p.H179D ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 0 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCTGGGACCTCATTTCCTCAT 0.597000 13 67 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45668110 45668110 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:45668110G>A ENST00000322157.4 + 10 1360 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K NPEPPS_ENST00000530173.1_Missense_Mutation_p.E371K|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E295K NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 375 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TTGGTTAAATGAAGGTTTTGC 0.363000 28 77 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7339222 7339222 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:7339222G>A ENST00000323206.1 + 2 305 c.32G>A c.(31-33)tGg>tAg p.W11* TMEM102_ENST00000396568.1_Nonsense_Mutation_p.W11*|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 11 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) AGTGCCCCCTGGTggggcccg 0.672000 55 2 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16547773 16547773 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:16547773G>C ENST00000597937.1 - 6 351 c.347C>G c.(346-348)tCt>tGt p.S116C EPS15L1_ENST00000594975.1_Missense_Mutation_p.S116C|EPS15L1_ENST00000535753.2_Missense_Mutation_p.S116C|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S116C|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S116C NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 116 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GGCCTCTGCAGAGGGCGGTGT 0.512000 32 53 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151671189 151671189 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:151671189C>T ENST00000402676.2 + 4 1903 c.1663C>T c.(1663-1665)Ccg>Tcg p.P555S AKAP12_ENST00000253332.1_Missense_Mutation_p.P555S|AKAP12_ENST00000359755.5_Missense_Mutation_p.P450S|AKAP12_ENST00000354675.6_Missense_Mutation_p.P457S NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 555 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGCCGATTCTCCGGACAGCCA 0.557000 40 41 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235345306 235345306 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:235345306C>G ENST00000264183.3 - 20 3425 c.2928G>C c.(2926-2928)gaG>gaC p.E976D ARID4B_ENST00000366603.2_Missense_Mutation_p.E976D|ARID4B_ENST00000349213.3_Missense_Mutation_p.E890D NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 976 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GTGAACAACTCTCCTCTTCAG 0.493000 125 44 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128492964 128492964 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:128492964C>G ENST00000325888.8 + 37 6348 c.6087C>G c.(6085-6087)ttC>ttG p.F2029L RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.F1996L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2029 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACAGCCCCTTCAAGATCCTGG 0.612000 20 98 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56093720 56093720 + Nonsense_Mutation SNP T T A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:56093720T>A ENST00000608158.1 - 4 1814 c.1153A>T c.(1153-1155)Aaa>Taa p.K385* CTCFL_ENST00000371196.2_Intron|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000608440.1_Intron|CTCFL_ENST00000422869.2_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608263.1_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000481655.2_Nonsense_Mutation_p.K385*|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000423479.3_Intron|CTCFL_ENST00000608425.1_Intron NM_001269052.1 NP_001255981.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAAGCCTGTTTGTAACAGATT 0.318000 53 103 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49775649 49775649 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:49775649C>G ENST00000321599.4 - 3 731 c.430G>C c.(430-432)Gag>Cag p.E144Q IP6K1_ENST00000468463.1_Missense_Mutation_p.E144Q|IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000395238.1_5'UTR NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 144 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 TCTTACCTCTCAGAGGTCTCA 0.577000 29 30 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668482 53668482 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:53668482G>A ENST00000600412.1 - 2 1181 c.1066C>T c.(1066-1068)Cga>Tga p.R356* ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R421* Q9H7R5 ZN665_HUMAN zinc finger protein 665 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGAATTCTTCGATGATTTGCT 0.408000 26 63 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91715574 91715574 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:91715574C>T ENST00000359028.2 + 37 9294 c.9069C>T c.(9067-9069)ttC>ttT p.F3023F AKAP9_ENST00000356239.3_Silent_p.F3019F|AKAP9_ENST00000358100.2_Silent_p.F2969F Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3023 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATGAGAGCTTCTCAGACTGGC 0.373000 T BRAF papillary thyroid 77 94 0 0 1 0 0 YAF2 10138 broad.mit.edu 37 12 42631500 42631500 + Nonsense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:42631500G>T ENST00000555248.2 - 2 221 c.53C>A c.(52-54)tCg>tAg p.S18* YAF2_ENST00000380788.3_5'UTR|YAF2_ENST00000327791.4_Nonsense_Mutation_p.S18*|YAF2_ENST00000541702.2_5'UTR|YAF2_ENST00000380790.4_Intron|YAF2_ENST00000442791.3_Nonsense_Mutation_p.S18*|YAF2_ENST00000534854.2_Nonsense_Mutation_p.S18* NM_001190980.1 NP_001177909.1 Q8IY57 YAF2_HUMAN YY1 associated factor 2 18 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1) 8 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) ACCCTCATCCGAGGACGGCTT 0.706000 4 8 0.00116845 0.00118611 1 1 0 SP8 221833 broad.mit.edu 37 7 20826399 20826399 + Translation_Start_Site SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:20826399C>A ENST00000361443.4 - 0 106 SP8_ENST00000418710.2_Missense_Mutation_p.G7W NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 AGACTCACCCCTAGAAGTGAA 0.453000 103 103 4.00015e-43 4.38245e-43 1 1 0 TGS1 96764 broad.mit.edu 37 8 56723511 56723511 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:56723511G>A ENST00000260129.5 + 11 2692 c.2215G>A c.(2215-2217)Gat>Aat p.D739N NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 739 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TGGGATAGCAGATAAGATAGA 0.423000 27 118 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101112167 101112167 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:101112167G>A ENST00000314742.8 - 6 1548 c.1326C>T c.(1324-1326)ttC>ttT p.F442F NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 442 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CTTGTTCTATGAAAACCCGAG 0.443000 41 94 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10898259 10898259 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr6:10898259G>C ENST00000283141.6 + 5 648 c.352G>C c.(352-354)Gaa>Caa p.E118Q SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 118 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTCCTGGTTTGAAAGAACAAC 0.403000 31 29 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480538 123480538 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:123480538G>A ENST00000529750.1 + 12 1591 c.1264G>A c.(1264-1266)Gga>Aga p.G422R GRAMD1B_ENST00000450171.2_Missense_Mutation_p.G113R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G422R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G429R NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 422 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GGAGGAGAATGGAAACCAGAG 0.532000 8 9 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74336951 74336951 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:74336951C>T ENST00000565898.1 + 8 2191 c.2107C>T c.(2107-2109)Cgt>Tgt p.R703C PML_ENST00000268058.3_Missense_Mutation_p.R751C P29590 PML_HUMAN promyelocytic leukemia 751 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GCTGGCCATGCGTGACCTGTG 0.662000 T """RARA, PAX5""" """APL, ALL""" 39 65 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730819 5730819 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:5730819C>T ENST00000379965.3 + 8 1715 c.1438C>T c.(1438-1440)Ccg>Tcg p.P480S TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 480 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) ACCTGCTTATCCGTATTTCAA 0.483000 90 96 0 0 1 0 0 ZNF319 57567 broad.mit.edu 37 16 58031152 58031152 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:58031152C>T ENST00000299237.2 - 2 1640 c.1018G>A c.(1018-1020)Gag>Aag p.E340K NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 AAGGGCCGCTCGGCGCTGTGT 0.667000 33 38 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62325658 62325658 + Nonsense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:62325658G>A ENST00000261517.5 - 5 440 c.367C>T c.(367-369)Caa>Taa p.Q123* VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q123*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q123*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q123* NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 123 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCTGCTTTTTGAAGGGCTTCT 0.294000 17 8 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54327641 54327641 + Missense_Mutation SNP A A G rs34296513 TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:54327641A>G ENST00000306888.2 - 9 1975 c.1724T>C c.(1723-1725)aTt>aCt p.I575T LNX1_ENST00000263925.7_Missense_Mutation_p.I671T|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 671 PDZ 3. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCCTTCAACAATGGATTTGAT 0.328000 9 24 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140154322 140154322 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:140154322G>T ENST00000255977.2 - 8 1668 c.1444C>A c.(1444-1446)Cta>Ata p.L482I MKRN1_ENST00000437223.2_Missense_Mutation_p.L216I|MKRN1_ENST00000474576.1_Missense_Mutation_p.L418I NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 482 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GGTTGCTATAGATCCAAGTCA 0.522000 16 21 2.23348e-06 2.292e-06 1 1 0 ARID3A 1820 broad.mit.edu 37 19 971892 971892 + Nonsense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr19:971892C>T ENST00000263620.3 + 9 1936 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 537 Important for cytoplasmic localization (By similarity).|REKLES. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGTTTGCTCAGCCGCCGGC 0.637000 58 120 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675379 3675379 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr20:3675379G>C ENST00000344754.4 - 11 2874 c.2875C>G c.(2875-2877)Cat>Gat p.H959D SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H959D NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 959 Ig-like C2-type 9. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCTTGGCAATGATAGGCCCCA 0.607000 71 41 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56883976 56883976 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:56883976G>C ENST00000257287.4 + 22 3089 c.2965G>C c.(2965-2967)Gat>Cat p.D989H NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 989 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TTCAGGCAAAGATATTATGAC 0.343000 16 23 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873094 36873094 + Silent SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:36873094G>T ENST00000429976.2 - 21 8095 c.7848C>A c.(7846-7848)gtC>gtA p.V2616V TRANK1_ENST00000428977.2_Silent_p.V2066V|TRANK1_ENST00000301807.6_Silent_p.V2066V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2616 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGAGGCCACGGACTATGGACC 0.547000 4 29 0.00909568 0.00913455 1 1 0 FAM21B 55747 broad.mit.edu 37 10 47909770 47909770 + Silent SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:47909770C>T ENST00000358474.5 + 11 867 c.867C>T c.(865-867)ctC>ctT p.L289L NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 289 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 AGAGTGACCTCTTCACGGAAG 0.483000 51 1 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182847159 182847159 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:182847159G>C ENST00000367549.3 + 20 2312 c.2202G>C c.(2200-2202)caG>caC p.Q734H DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 734 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TATGTAGGCAGAAAGTGAAAC 0.388000 9 48 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36699972 36699972 + Missense_Mutation SNP C C A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr13:36699972C>A ENST00000255448.4 - 2 514 c.303G>T c.(301-303)ttG>ttT p.L101F DCLK1_ENST00000379892.4_Missense_Mutation_p.L101F|DCLK1_ENST00000360631.3_Missense_Mutation_p.L101F NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 101 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTCCCTGGGGCAAATTCACGT 0.522000 58 47 3.28156e-27 3.55376e-27 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 121 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40212135 40212135 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr15:40212135G>A ENST00000299092.3 - 1 291 c.93C>T c.(91-93)ctC>ctT p.L31L GPR176_ENST00000561100.1_Silent_p.L31L NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 31 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CGAACTCCCCGAGCGCGCTGC 0.682000 16 3 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161128759 161128759 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:161128759G>C ENST00000523217.1 + 9 1554 c.1312G>C c.(1312-1314)Gtc>Ctc p.V438L GABRA6_ENST00000274545.5_Missense_Mutation_p.V448L NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 448 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACAATGGAAGTCAGTAGCAG 0.373000 TCGA Ovarian(5;0.080) 13 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158645975 158645975 + Silent SNP A A T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr1:158645975A>T ENST00000368147.4 - 8 1248 c.1068T>A c.(1066-1068)cgT>cgA p.R356R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGCCAGGGCACGAATATGCT 0.478000 144 46 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 123993774 123993774 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:123993774G>A ENST00000456829.2 + 8 1119 c.868G>A c.(868-870)Gga>Aga p.G290R VWA5A_ENST00000392744.4_Missense_Mutation_p.G306R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G290R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G290R|VWA5A_ENST00000360334.4_Missense_Mutation_p.G290R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G290R NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 290 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GGACCGCTCGGGAAGTATGCA 0.473000 20 28 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176022548 176022548 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:176022548C>T ENST00000510636.1 + 32 4082 c.3808C>T c.(3808-3810)Cac>Tac p.H1270Y CDHR2_ENST00000506348.1_Missense_Mutation_p.H1270Y|CDHR2_ENST00000261944.5_Missense_Mutation_p.H1270Y NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1270 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CAGGCCACCACACACACCACC 0.652000 81 115 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75179794 75179794 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:75179794C>T ENST00000338772.5 - 1 6 c.7G>A c.(7-9)Ggg>Agg p.G3R AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR GCCCTTTCCCCAAGGAGTTTC 0.587000 23 29 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67219297 67219297 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:67219297G>A ENST00000312457.2 - 1 903 c.899C>T c.(898-900)gCc>gTc p.A300V NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 300 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCGGAGGTCGGCACTGGCCAT 0.657000 4 121 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287602 79287602 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:79287602C>T ENST00000332900.1 - 3 788 c.239G>A c.(238-240)aGa>aAa p.R80K NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 80 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) TCTTCGCCTTCTTATCTTCAT 0.662000 134 68 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048697 32048697 + Silent SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:32048697G>A ENST00000438447.1 + 8 1960 c.1572G>A c.(1570-1572)cgG>cgA p.R524R PDZD2_ENST00000282493.3_Silent_p.R524R O15018 PDZD2_HUMAN PDZ domain containing 2 524 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGATGGTGCGGAATGGGGACC 0.537000 27 27 0 0 1 0 0 RAB6A 5870 broad.mit.edu 37 11 73429730 73429730 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr11:73429730C>T ENST00000336083.3 - 4 672 c.217G>A c.(217-219)Gag>Aag p.E73K RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000541588.1_Intron NM_198896.1 NP_942599.1 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 73 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding large_intestine(2)|lung(2) 4 CTGAACCGCTCTTGACCTGCT 0.408000 28 33 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210940388 210940388 + Missense_Mutation SNP A A G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:210940388A>G ENST00000281772.9 - 6 1906 c.1643T>C c.(1642-1644)cTg>cCg p.L548P KANSL1L_ENST00000457374.1_Missense_Mutation_p.L548P|KANSL1L_ENST00000418791.1_Missense_Mutation_p.L548P|KANSL1L_ENST00000452086.1_Missense_Mutation_p.L548P NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 548 TGAAGATTTCAGTCTTGTCCT 0.408000 25 21 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138232 31138232 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr10:31138232C>G ENST00000452305.1 - 8 1635 c.1072G>C c.(1072-1074)Gat>Cat p.D358H ZNF438_ENST00000361310.3_Missense_Mutation_p.D368H|ZNF438_ENST00000442986.1_Missense_Mutation_p.D368H|ZNF438_ENST00000538351.2_Missense_Mutation_p.D319H|ZNF438_ENST00000331737.6_Missense_Mutation_p.D358H|ZNF438_ENST00000413025.1_Missense_Mutation_p.D368H|ZNF438_ENST00000436087.2_Missense_Mutation_p.D368H|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000444692.2_Missense_Mutation_p.D358H NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TGGTTAAGATCAAGTTTGGTG 0.458000 33 36 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67132309 67132309 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:67132309G>C ENST00000284425.2 - 4 558 c.384C>G c.(382-384)atC>atG p.I128M ABCA6_ENST00000590645.1_Missense_Mutation_p.I128M NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 128 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTTCATTAAAGATGATTCCCA 0.333000 22 10 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104748140 104748140 + Nonsense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:104748140C>G ENST00000334877.4 + 22 3770 c.3236C>G c.(3235-3237)tCa>tGa p.S1079* KMT2E_ENST00000334914.7_Nonsense_Mutation_p.S134*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S1079*|KMT2E_ENST00000311117.3_Nonsense_Mutation_p.S1079* lysine (K)-specific methyltransferase 2E GTTAACTTCTCAGTGAACTCC 0.522000 34 24 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945633 7945633 + Missense_Mutation SNP C C T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:7945633C>T ENST00000229307.4 + 2 458 c.239C>T c.(238-240)gCa>gTa p.A80V NANOG_ENST00000526286.1_Missense_Mutation_p.A80V NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 80 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) CCCACTTCTGCAGAGAAGAGT 0.483000 34 76 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238283106 238283106 + Frame_Shift_Del DEL G G - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr2:238283106delG ENST00000295550.4 - 8 4080 c.3628delC c.(3628-3630)cgcfs p.R1210fs COL6A3_ENST00000346358.4_Frame_Shift_Del_p.R1010fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.R1009fs|COL6A3_ENST00000392004.3_Frame_Shift_Del_p.R1004fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.R1004fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.R603fs|COL6A3_ENST00000392003.2_Frame_Shift_Del_p.R803fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.R1004fs NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1210 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGCTCCTCGCGGGTGAGCTGG 0.612 43 59 --- --- --- --- ACAA1 30 broad.mit.edu 37 3 38175473 38175474 + Frame_Shift_Ins INS - - C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr3:38175473_38175474insC ENST00000333167.8 - 3 464_465 c.292_293insG c.(292-294)gcafs p.A98fs ACAA1_ENST00000444607.2_Frame_Shift_Ins_p.A98fs|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000450296.1_Frame_Shift_Ins_p.A98fs|ACAA1_ENST00000301810.7_Frame_Shift_Ins_p.A98fs NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 98 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) GGCCATGATTGCCCCGGCCCCA 0.520 32 37 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190878555 190878556 + Frame_Shift_Ins INS - - A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr4:190878555_190878556insA ENST00000226798.4 + 6 657_658 c.435_436insA c.(436-438)aaafs p.K146fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 146 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCACTTAGGGGAAAATGGCTTT 0.351 7 33 --- --- --- --- C1QTNF2 114898 broad.mit.edu 37 5 159776644 159776644 + Frame_Shift_Del DEL C C - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr5:159776644delC ENST00000393975.3 - 3 527 c.524delG c.(523-525)ggcfs p.G175fs NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 130 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCTTCTTGCCCTTGGGCCC 0.682 86 141 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77539666 77539690 + Frame_Shift_Del DEL CCTCTCACAGCGTTGGCACTGTCTT CCTCTCACAGCGTTGGCACTGTCTT - rs12673343 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr7:77539666_77539690delCCTCTCACAGCGTTGGCACTGTCTT ENST00000416283.2 + 7 740_764 c.614_638delCCTCTCACAGCGTTGGCACTGTCTT c.(613-639)acctctcacagcgttggcactgtcttcfs p.TSHSVGTVF205fs PHTF2_ENST00000248550.7_Frame_Shift_Del_p.TSHSVGTVF239fs|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000450574.1_Frame_Shift_Del_p.TSHSVGTVF205fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.TSHSVGTVF201fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.TSHSVGTVF205fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.TSHSVGTVF201fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.TSHSVGTVF201fs|PHTF2_ENST00000415251.2_Frame_Shift_Del_p.TSHSVGTVF201fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GGTACAAGCACCTCTCACAGCGTTGGCACTGTCTTCAGAGATCTC 0.431 7 53 --- --- --- --- LINC00051 619434 broad.mit.edu 37 8 143287465 143287466 + RNA INS - - AGGGGC TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr8:143287465_143287466insAGGGGC ENST00000517704.1 + 0 101 NR_024378.1 GAGACAGCGGAaggggcagggg 0.624 3 3 --- --- --- --- PKN3 29941 broad.mit.edu 37 9 131467798 131467799 + Frame_Shift_Del DEL CC CC - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:131467798_131467799delCC ENST00000291906.4 + 2 634_635 c.241_242delCC c.(241-243)cccfs p.P81fs NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 81 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AATCCTGCTGCCCGGCCCTGGG 0.703 2 4 --- --- --- --- NCS1 23413 broad.mit.edu 37 9 132934960 132934960 + Frame_Shift_Del DEL C C - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr9:132934960delC ENST00000372398.3 + 1 104 c.18delC c.(16-18)agcfs p.S6fs NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 6 negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding large_intestine(1)|lung(4)|stomach(1) 6 AATCCAACAGCAAGTTGAAGC 0.751 2 4 --- --- --- --- DNM1L 10059 broad.mit.edu 37 12 32861134 32861135 + Frame_Shift_Del DEL AG AG - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr12:32861134_32861135delAG ENST00000452533.2 + 4 509_510 c.345_346delAG c.(343-348)acagaafs p.E116fs DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 116 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AAAATGAAACAGAAAGAATTTC 0.262 14 19 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20295841 20295842 + Frame_Shift_Ins INS - - C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:20295841_20295842insC ENST00000315947.1 + 1 234_235 c.234_235insC c.(235-237)cccfs p.P79fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.P79fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCATTGTGGCTCCCCGGATGTT 0.515 104 293 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102550760 102550761 + Frame_Shift_Del DEL CA CA - TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr14:102550760_102550761delCA ENST00000334701.7 - 7 1769_1770 c.1488_1489delTG c.(1486-1491)tgtgagfs p.CE496fs HSP90AA1_ENST00000216281.8_Frame_Shift_Del_p.CE374fs|HSP90AA1_ENST00000441629.2_Frame_Shift_Del_p.CE195fs NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 374 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ATTAGCTCCTCACAGTTATCCA 0.386 38 51 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81253526 81253527 + RNA INS - - TTATT rs140827348 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr16:81253526_81253527insTTATT ENST00000337114.4 - 0 301 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ttagacatgaattatttaatcc 0.391 3 5 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8daf852a-d4c8-4075-90fa-9a79c22e59c3 6ecb3798-2d62-4ba3-9613-4bfe656bfe02 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt p.85_104RPLCCQTTCHPSCGMSSCCR>R Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 8 197 --- --- --- ---