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 DEAF1 10522 broad.mit.edu 37 11 674755 674755 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:674755G>A ENST00000382409.3 - 10 1768 c.1284C>T c.(1282-1284)gtC>gtT p.V428V DEAF1_ENST00000525904.1_5'UTR|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000338675.6_Silent_p.V339V NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 428 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) TCGGGGGTGGGACCGCCAGCG 0.537000 22 82 0 0 0.021523 0 0 SLC15A4 121260 broad.mit.edu 37 12 129278778 129278778 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:129278778G>A ENST00000266771.5 - 8 1736 c.1697C>T c.(1696-1698)tCa>tTa p.S566L SLC15A4_ENST00000544112.1_Missense_Mutation_p.S229L|SLC15A4_ENST00000545031.1_Missense_Mutation_p.S83L NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 566 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) ATTGGCTCTTGATCGCTGATG 0.498000 9 71 0 0 0.004482 0 0 GPR78 27201 broad.mit.edu 37 4 8588793 8588793 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:8588793C>T ENST00000382487.4 + 3 1212 c.795C>T c.(793-795)ctC>ctT p.L265L GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 265 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TGGCGGAGCTCGTGCCCTTCG 0.637000 9 10 0 0 0.004482 0 0 DNAH9 1770 broad.mit.edu 37 17 11520890 11520890 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:11520890G>A ENST00000262442.3 + 5 1135 c.1067G>A c.(1066-1068)gGa>gAa p.G356E DNAH9_ENST00000454412.2_Missense_Mutation_p.G356E|DNAH9_ENST00000579406.1_3'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 356 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCTCCCCGGGAAGGCTGACT 0.617000 7 49 0 0 0.004482 0 0 ZNF609 23060 broad.mit.edu 37 15 64968417 64968417 + Silent SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:64968417C>A ENST00000326648.3 + 4 3492 c.3364C>A c.(3364-3366)Cga>Aga p.R1122R NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1122 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGAGTGTGGTCGACAGGCAGA 0.542000 14 40 7.07596e-05 7.69951e-05 0.006122 1 0 SPIDR 23514 broad.mit.edu 37 8 48625418 48625418 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:48625418C>T ENST00000297423.4 + 15 2556 c.2172C>T c.(2170-2172)gaC>gaT p.D724D SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.D654D|SPIDR_ENST00000518074.1_Silent_p.D664D|SPIDR_ENST00000517693.1_Silent_p.D199D NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair TCTTCAAGGACGCTCTCCGTG 0.602000 23 62 0 0 0.014323 0 0 OR6T1 219874 broad.mit.edu 37 11 123814339 123814339 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123814339C>T ENST00000321252.2 - 1 241 c.207G>A c.(205-207)ctG>ctA p.L69L NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCAACAGCTCCAGGAAGGAGA 0.498000 8 67 0 0 0.004482 0 0 DNAH3 55567 broad.mit.edu 37 16 21156557 21156557 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:21156557T>C ENST00000261383.3 - 3 392 c.393A>G c.(391-393)caA>caG p.Q131Q DNAH3_ENST00000415178.1_Silent_p.Q131Q|DNAH3_ENST00000575491.1_5'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 131 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGTGGCCGGTTGGTAGACCT 0.562000 3 15 0 0 0.004672 0 0 NIN 51199 broad.mit.edu 37 14 51243724 51243724 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:51243724G>A ENST00000245441.5 - 7 799 c.609C>T c.(607-609)aaC>aaT p.N203N NIN_ENST00000389868.3_Silent_p.N203N|NIN_ENST00000382041.3_Silent_p.N203N|NIN_ENST00000382043.4_Silent_p.N203N|NIN_ENST00000324330.9_Silent_p.N203N|NIN_ENST00000530997.2_Silent_p.N203N|NIN_ENST00000453196.1_Silent_p.N203N NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 203 EF-hand 3. N -> D (in Ref. 2; AAG33512). centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GCTTCTTCCGGTTCAGGTGAC 0.458000 T PDGFRB MPD 9 49 0 0 0.006214 0 0 SCN9A 6335 broad.mit.edu 37 2 167160792 167160792 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:167160792G>A ENST00000303354.6 - 6 987 c.647C>T c.(646-648)aCt>aTt p.T216I SCN9A_ENST00000409672.1_Missense_Mutation_p.T215I|SCN9A_ENST00000409435.1_Missense_Mutation_p.T215I|SCN9A_ENST00000375387.4_Intron Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 215 F -> S (in PERYTHM; hyperpolarizes the voltage dependence of activation by 11 mV, accelerates activation, slows deactivation and enhances the response to slow, small depolarizations). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TACTCTGAAAGTTCGAAGAGC 0.338000 4 19 0 0 0.014758 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716972 222716972 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:222716972G>A ENST00000343410.6 - 2 939 c.881C>T c.(880-882)tCg>tTg p.S294L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 294 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GTCCAGGCACGAATAATAAAT 0.468000 112 384 0 0 0.014410 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221642 42221642 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:42221642G>A ENST00000221992.6 + 5 1341 c.1227G>A c.(1225-1227)ctG>ctA p.L409L CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L409L|CEACAM5_ENST00000398599.4_Silent_p.L408L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 409 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAGTCATCCTGAATGTCCTCT 0.517000 19 84 0 0 0.016522 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133967437 133967437 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:133967437G>A ENST00000298622.4 + 18 2295 c.2157G>A c.(2155-2157)aaG>aaA p.K719K JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GTAAGCAGAAGGGCTACCTGG 0.627000 5 31 0 0 0.014758 0 0 VIPR1 7433 broad.mit.edu 37 3 42572390 42572390 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:42572390G>A ENST00000438259.2 + 4 532 c.146G>A c.(145-147)gGa>gAa p.G49E VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000433647.1_Silent_p.R211R|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Silent_p.R204R|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000325123.4_Silent_p.R252R|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA NM_001251883.1 NP_001238812.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 0 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) TCTCTGAGCGGAAGTACTTCT 0.567000 12 49 0 0 0.016723 0 0 KLKB1 3818 broad.mit.edu 37 4 187157996 187157996 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:187157996G>A ENST00000264690.6 + 5 577 c.390G>A c.(388-390)aaG>aaA p.K130K KLKB1_ENST00000513864.1_Silent_p.K130K NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 130 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ATGTGTCTAAGGTTAGCAGTG 0.388000 10 38 0 0 0.008291 0 0 OR1F1 4992 broad.mit.edu 37 16 3254555 3254555 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:3254555C>T ENST00000304646.2 + 1 309 c.309C>T c.(307-309)ttC>ttT p.F103F AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 AGATGTATTTCGTTTTCATGT 0.493000 23 100 0 0 0.021523 0 0 IGHG4 3503 broad.mit.edu 37 14 106092212 106092212 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:106092212G>A ENST00000390543.2 - 0 191 CGCTGCTGAGGGAGTAGAGTC 0.612000 7 33 0 0 0.001984 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110477462 110477462 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:110477462G>A ENST00000260283.4 - 10 1071 c.787C>T c.(787-789)Cca>Tca p.P263S ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 263 Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ATTCCATATGGATATTCATGC 0.438000 21 65 0 0 0.010504 0 0 NLRP7 199713 broad.mit.edu 37 19 55449492 55449492 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:55449492T>C ENST00000446217.1 - 7 2535 c.2133A>G c.(2131-2133)aaA>aaG p.K711K NLRP7_ENST00000448121.2_Silent_p.K655K|NLRP7_ENST00000592784.1_Silent_p.K683K|NLRP7_ENST00000590030.1_Silent_p.K683K|NLRP7_ENST00000588756.1_Silent_p.K683K|NLRP7_ENST00000340844.2_Silent_p.K683K|NLRP7_ENST00000328092.5_Silent_p.K655K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 683 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGAAGCTTTGTTTCACTTCCA 0.493000 63 114 0 0 0.014410 0 0 NXF2B 728343 broad.mit.edu 37 X 101615544 101615544 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:101615544T>G ENST00000457521.2 - 34 3730 c.1859A>C c.(1858-1860)gAg>gCg p.E620A NXF2B_ENST00000412230.2_Missense_Mutation_p.E620A|NXF2B_ENST00000372750.1_Missense_Mutation_p.E620A|NXF2B_ENST00000372749.1_Missense_Mutation_p.E620A|NXF2B_ENST00000372752.1_3'UTR nuclear RNA export factor 2B breast(1)|kidney(1)|lung(4)|ovary(1) 7 CTTGAAGGCCTCCGCGGGGAT 0.517000 8 38 0 0 0.003080 0 0 ALOX12B 242 broad.mit.edu 37 17 7989341 7989341 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7989341C>T ENST00000319144.4 - 2 605 c.345G>A c.(343-345)gaG>gaA p.E115E NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 115 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TACCTGTGGCCTCCCGGAGTG 0.617000 Multiple Myeloma(8;0.094) 15 33 0 0 0.028581 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108813 75108813 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:75108813G>A ENST00000309664.5 + 3 515 c.376G>A c.(376-378)Ggg>Agg p.G126R LMAN1L_ENST00000379709.3_Missense_Mutation_p.G126R NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 126 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTCTGTCCTTGGGGGGCTGGC 0.672000 17 74 0 0 0.010504 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602168 58602168 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:58602168G>A ENST00000287275.1 - 6 1009 c.619C>T c.(619-621)Cca>Tca p.P207S GLYATL2_ENST00000532258.1_Missense_Mutation_p.P207S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 207 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGGCCCTCTGGACCCAGCACA 0.468000 8 14 0 0 0.003080 0 0 GBP7 388646 broad.mit.edu 37 1 89614989 89614989 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:89614989G>A ENST00000294671.2 - 7 1276 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 380 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) AGCTTCTTCTGAAATTCCTGG 0.408000 5 20 0 0 0.014758 0 0 LDB3 11155 broad.mit.edu 37 10 88476105 88476105 + Missense_Mutation SNP C C T rs141870580 by1000genomes TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:88476105C>T ENST00000429277.2 + 10 1413 c.1268C>T c.(1267-1269)cCg>cTg p.P423L LDB3_ENST00000352360.5_Missense_Mutation_p.P161L|LDB3_ENST00000263066.6_Missense_Mutation_p.P308L|LDB3_ENST00000361373.4_Missense_Mutation_p.P418L|LDB3_ENST00000458213.2_Missense_Mutation_p.P308L NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 418 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 ACCTACAGCCCGTCCCCAGGG 0.592000 6 24 0 0 0.003080 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296051 233296051 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:233296051C>T ENST00000258229.8 - 19 3729 c.3495G>A c.(3493-3495)gaG>gaA p.E1165E PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.E298E NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1165 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTGATGATACTCTTTGTTTT 0.443000 10 34 0 0 0.010729 0 0 FZD10 11211 broad.mit.edu 37 12 130648678 130648678 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:130648678C>T ENST00000539839.1 + 1 1675 c.1093C>T c.(1093-1095)Cgt>Tgt p.R365C FZD10_ENST00000229030.4_Silent_p.F397F NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCACCGGCTTCGTGCTCATTC 0.642000 13 43 0 0 0.020292 0 0 USP26 83844 broad.mit.edu 37 X 132160520 132160520 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:132160520G>A ENST00000511190.1 - 6 2198 c.1729C>T c.(1729-1731)Cga>Tga p.R577* USP26_ENST00000370832.1_Nonsense_Mutation_p.R577*|USP26_ENST00000406273.1_Nonsense_Mutation_p.R577* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 577 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GTCATCTTTCGAATAACTTTT 0.398000 4 34 0 0 0.021553 0 0 OR4D1 26689 broad.mit.edu 37 17 56232787 56232787 + Silent SNP G G A rs17222013 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:56232787G>A ENST00000268912.5 + 1 294 c.273G>A c.(271-273)acG>acA p.T91T NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 AGACCAAGACGATCTCCTACC 0.498000 21 63 0 0 0.006320 0 0 OR4K2 390431 broad.mit.edu 37 14 20344937 20344937 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:20344937C>T ENST00000298642.2 + 1 547 c.511C>T c.(511-513)Ccc>Tcc p.P171S NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTCTGTGGTCCCTATGAGGT 0.478000 44 314 0 0 0.014410 0 0 ZXDA 7789 broad.mit.edu 37 X 57935505 57935505 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:57935505G>A ENST00000358697.4 - 1 1562 c.1350C>T c.(1348-1350)ttC>ttT p.F450F NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 450 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 AGTCACAAAGGAAAGGTCTCT 0.512000 4 64 0 0 0.009096 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811309 5811309 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:5811309G>A ENST00000381095.3 - 6 2627 c.2000C>T c.(1999-2001)aCc>aTc p.T667I NLGN4X_ENST00000381092.1_Missense_Mutation_p.T667I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T667I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T667I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T687I NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 667 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATCTCGTTTGGTTTCAATGAG 0.502000 27 130 0 0 0.009535 0 0 HIBADH 11112 broad.mit.edu 37 7 27669065 27669065 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:27669065G>A ENST00000265395.2 - 4 615 c.409C>T c.(409-411)Cct>Tct p.P137S NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 137 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) GAAACTGCAGGATCAATAGTG 0.333000 53 200 0 0 0.014410 0 0 GMPR2 51292 broad.mit.edu 37 14 24706750 24706750 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:24706750G>T ENST00000557854.1 + 7 1010 c.733G>T c.(733-735)Gat>Tat p.D245Y GMPR2_ENST00000559836.1_Missense_Mutation_p.D227Y|GMPR2_ENST00000355299.4_Missense_Mutation_p.D227Y|GMPR2_ENST00000456667.3_Missense_Mutation_p.D199Y|GMPR2_ENST00000559910.1_Missense_Mutation_p.D194Y|GMPR2_ENST00000399440.2_Missense_Mutation_p.D227Y|GMPR2_ENST00000348719.7_Missense_Mutation_p.D227Y|GMPR2_ENST00000560517.1_3'UTR|GMPR2_ENST00000420554.2_Missense_Mutation_p.D245Y|GMPR2_ENST00000559104.1_Missense_Mutation_p.D212Y Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 227 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) CTGTCCTGGGGATGTGGCCAA 0.502000 20 72 1.00905e-13 1.11796e-13 0.008871 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806033 97806033 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:97806033G>A ENST00000358642.2 + 1 17 c.17G>A c.(16-18)gGa>gAa p.G6E NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATATCAGAGGGAAATAAGACT 0.373000 16 62 0 0 0.024245 0 0 LRFN5 145581 broad.mit.edu 37 14 42356113 42356113 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:42356113C>T ENST00000554171.1 + 5 2717 c.285C>T c.(283-285)ttC>ttT p.F95F LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 95 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTCATGCTTTCGCTGACCTAC 0.348000 HNSCC(30;0.082) 10 38 0 0 0.013537 0 0 CST9 128822 broad.mit.edu 37 20 23586408 23586408 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:23586408C>T ENST00000376971.3 - 1 105 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 32 extracellular region cysteine-type endopeptidase inhibitor activity p.E32K(1) central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) ATTTCCTCTTCAGAACACCAG 0.512000 18 64 0 0 0.004990 0 0 SYTL2 54843 broad.mit.edu 37 11 85435627 85435627 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:85435627G>T ENST00000359152.5 - 1 3444 c.3445C>A c.(3445-3447)Cac>Aac p.H1149N SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.H625N|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.H625N|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 311 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCCTTCTCGTGAGTTTCTTCT 0.458000 16 29 2.94398e-08 3.24486e-08 0.007413 1 0 CCBE1 147372 broad.mit.edu 37 18 57115224 57115224 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:57115224C>T ENST00000439986.4 - 7 803 c.766G>A c.(766-768)Ggc>Agc p.G256S CCBE1_ENST00000398179.2_Silent_p.R31R NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 256 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CCGGGAGGGCCCTGGCCCCCA 0.582000 14 58 0 0 0.028581 0 0 ATP7B 540 broad.mit.edu 37 13 52531657 52531657 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:52531657G>A ENST00000242839.4 - 9 2598 c.2442C>T c.(2440-2442)atC>atT p.I814I ATP7B_ENST00000400366.3_Silent_p.I703I|ATP7B_ENST00000417240.2_Silent_p.I86I|ATP7B_ENST00000344297.5_Silent_p.I652I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Silent_p.I814I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.I736I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 814 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCACCTGATGATTAAATTGT 0.438000 Wilson disease 18 44 0 0 0.008871 0 0 KDELR3 11015 broad.mit.edu 37 22 38877506 38877506 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:38877506T>A ENST00000409006.3 + 4 797 c.641T>A c.(640-642)cTa>cAa p.L214Q KDELR3_ENST00000216014.4_Intron|KDELR3_ENST00000471268.1_Intron NM_016657.1 NP_057839.1 O43731 ERD23_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 0 protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) GACACTGGCCTAAGGAGTTAC 0.433000 16 45 0 0 0.028581 0 0 LRRC7 57554 broad.mit.edu 37 1 70587489 70587489 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:70587489G>A ENST00000310961.5 + 27 4825 c.4407G>A c.(4405-4407)atG>atA p.M1469I LRRC7_ENST00000415775.2_Missense_Mutation_p.M795I|LRRC7_ENST00000035383.5_Missense_Mutation_p.M1511I Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1511 PDZ. centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTGTACATATGGAACATGAAA 0.308000 7 27 0 0 0.008291 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247248 142247248 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:142247248C>T ENST00000390361.3 - 0 257 GCACCCGTGCCTTGGAAGTAA 0.542000 12 45 0 0 0.013537 0 0 GRM2 2912 broad.mit.edu 37 3 51751693 51751693 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:51751693G>A ENST00000395052.3 + 5 2639 c.2405G>A c.(2404-2406)gGc>gAc p.G802D GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.G524D NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 802 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AGCCTCAGCGGCTCCGTGGTG 0.627000 8 21 0 0 0.006214 0 0 OR11G2 390439 broad.mit.edu 37 14 20666414 20666414 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:20666414G>A ENST00000357366.3 + 1 920 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) aatgaagctggaaagcagaag 0.453000 9 80 0 0 0.006214 0 0 GPR158 57512 broad.mit.edu 37 10 25887246 25887246 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:25887246G>A ENST00000376351.3 + 11 3050 c.2691G>A c.(2689-2691)tcG>tcA p.S897S GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 897 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CACGAACATCGATGTTACAGA 0.522000 13 70 0 0 0.016723 0 0 PCDH20 64881 broad.mit.edu 37 13 61986959 61986959 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:61986959C>T ENST00000409186.1 - 5 3378 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K PCDH20_ENST00000409204.4_Missense_Mutation_p.E425K Q8N6Y1 PCD20_HUMAN protocadherin 20 398 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGGACAATTTCAGGGGGTCTG 0.448000 20 63 0 0 0.010504 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482566 54482566 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:54482566C>T ENST00000317802.7 - 1 843 c.723G>A c.(721-723)agG>agA p.R241R ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 241 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 TGATGTCATTCCTCTGCTCCA 0.552000 7 38 0 0 0.001984 0 0 MCCC1 56922 broad.mit.edu 37 3 182733275 182733275 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:182733275G>A ENST00000492597.1 - 18 2504 c.1802C>T c.(1801-1803)cCt>cTt p.P601L MCCC1_ENST00000265594.4_Missense_Mutation_p.P710L Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 710 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTCGACTAAAGGAGTGTGTCT 0.448000 25 102 0 0 0.021523 0 0 IL22RA1 58985 broad.mit.edu 37 1 24463757 24463757 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:24463757C>T ENST00000270800.1 - 3 257 c.219G>A c.(217-219)cgG>cgA p.R73R NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 73 Fibronectin type-III 1. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TCCGGGTGATCCGCTGACAGC 0.632000 11 41 0 0 0.008291 0 0 EFR3A 23167 broad.mit.edu 37 8 133023050 133023050 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:133023050C>T ENST00000254624.5 + 23 2599 c.2374C>T c.(2374-2376)Cca>Tca p.P792S EFR3A_ENST00000334503.4_Missense_Mutation_p.P792S|EFR3A_ENST00000519656.1_Missense_Mutation_p.P756S|EFR3A_ENST00000521940.1_3'UTR NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 792 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCCTCCCAGTCCATCAGGAAC 0.433000 6 19 0 0 0.021553 0 0 PRPF4 9128 broad.mit.edu 37 9 116046646 116046646 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:116046646C>T ENST00000374199.4 + 7 1127 c.726C>T c.(724-726)tcC>tcT p.S242S PRPF4_ENST00000374198.4_Silent_p.S243S O43172 PRP4_HUMAN pre-mRNA processing factor 4 243 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GTCCCAATTCCAAGATGCTGG 0.388000 9 32 0 0 0.006214 0 0 OR5W2 390148 broad.mit.edu 37 11 55681168 55681168 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55681168C>T ENST00000344514.1 - 1 890 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGGCCTCTTTCACATCCTTGT 0.328000 6 10 0 0 0.021553 0 0 CLCN5 1184 broad.mit.edu 37 X 49855005 49855005 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:49855005G>A ENST00000376088.3 + 13 2618 c.1977G>A c.(1975-1977)cgG>cgA p.R659R CLCN5_ENST00000307367.2_Silent_p.R589R|CLCN5_ENST00000376108.3_Silent_p.R589R|CLCN5_ENST00000376091.3_Silent_p.R659R NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 589 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TGAAACCCCGGAGAAATGATC 0.463000 9 57 0 0 0.006214 0 0 NOTCH4 4855 broad.mit.edu 37 6 32172032 32172032 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:32172032C>T ENST00000375023.3 - 19 3138 c.3000G>A c.(2998-3000)ggG>ggA p.G1000G NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1000 EGF-like 25. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CACAGCGTAGCCCCACAAAGC 0.597000 73 170 0 0 0.014410 0 0 OR2L13 284521 broad.mit.edu 37 1 248262767 248262767 + Silent SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248262767C>A ENST00000366478.2 + 3 427 c.90C>A c.(88-90)atC>atA p.I30I OR2L13_ENST00000358120.2_Silent_p.I30I NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGTGCCTTATCATCCTCATAT 0.443000 23 97 1.10513e-12 1.22124e-12 0.014323 1 0 CYTH3 9265 broad.mit.edu 37 7 6210176 6210176 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:6210176G>A ENST00000350796.3 - 9 949 c.813C>T c.(811-813)ctC>ctT p.L271L CYTH3_ENST00000396741.2_Silent_p.L186L|CYTH3_ENST00000488964.1_5'UTR NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 271 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 CCAGCTTCAGGAGCCAGCCCT 0.632000 7 20 0 0 0.006214 0 0 KRT16 3868 broad.mit.edu 37 17 39767698 39767698 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:39767698G>A ENST00000301653.4 - 3 734 c.670C>T c.(670-672)Cgc>Tgc p.R224C NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 224 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) AACACCCGGCGCAGGCCATTG 0.617000 7 42 0 0 0.006214 0 0 LINGO4 339398 broad.mit.edu 37 1 151773751 151773751 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:151773751C>T ENST00000368820.3 - 2 2367 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 477 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCCTCTGTCCCGTAGCTGCAC 0.592000 32 117 0 0 0.013726 0 0 CYP4F22 126410 broad.mit.edu 37 19 15654985 15654985 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:15654985T>G ENST00000269703.2 + 10 1230 c.1031T>G c.(1030-1032)aTc>aGc p.I344S CYP4F22_ENST00000601005.2_Missense_Mutation_p.I344S NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 344 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 TCCAGTGGGATCTCTTGGATG 0.507000 17 61 0 0 0.006122 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185196 127185196 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:127185196G>A ENST00000371124.3 - 1 1186 c.990C>T c.(988-990)atC>atT p.I330I NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 330 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GAGAAGCTGTGATCTTGATGG 0.522000 18 66 0 0 0.004990 0 0 SERPINE3 647174 broad.mit.edu 37 13 51936089 51936089 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:51936089G>A ENST00000521255.1 + 7 1291 c.1231G>A c.(1231-1233)Ggc>Agc p.G411S SERPINE3_ENST00000400389.4_Intron|RP11-24B19.4_ENST00000602881.1_RNA|SERPINE3_ENST00000524365.1_Intron NM_001101320.1 NP_001094790.1 A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 411 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 TAGCAACAAGGGCTCATTTGT 0.388000 8 45 0 0 0.004482 0 0 ITGB8 3696 broad.mit.edu 37 7 20421376 20421376 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:20421376T>C ENST00000222573.3 + 6 1512 c.828T>C c.(826-828)gcT>gcC p.A276A ITGB8_ENST00000537992.1_Silent_p.A141A NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 276 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GAAAAGAGGCTAAAAGATTGC 0.403000 14 26 0 0 0.020292 0 0 ZNF285 26974 broad.mit.edu 37 19 44891904 44891904 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:44891904C>T ENST00000330997.4 - 4 567 c.503G>A c.(502-504)gGa>gAa p.G168E CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G168E|ZNF285_ENST00000591679.1_Missense_Mutation_p.G175E NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CATGTAAATTCCCTTATATCT 0.468000 19 62 0 0 0.008871 0 0 GLI2 2736 broad.mit.edu 37 2 121732575 121732575 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:121732575G>T ENST00000452319.1 + 9 1318 c.1258G>T c.(1258-1260)Gat>Tat p.D420Y GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.D420Y|GLI2_ENST00000314490.11_Missense_Mutation_p.D92Y P10070 GLI2_HUMAN GLI family zinc finger 2 420 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTCAAGGAAGATCTGGACAG 0.582000 11 47 4.68919e-08 5.16174e-08 0.008291 1 0 ZNF676 163223 broad.mit.edu 37 19 22364330 22364330 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:22364330G>A ENST00000397121.2 - 3 506 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCATTTTTTGGAAAGAATCTT 0.308000 4 19 0 0 0.009096 0 0 GSTM5 2949 broad.mit.edu 37 1 110256309 110256309 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:110256309C>T ENST00000369813.1 + 3 1068 c.163C>T c.(163-165)Cgt>Tgt p.R55C GSTM5_ENST00000369812.5_Missense_Mutation_p.R115C|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.R96C P46439 GSTM5_HUMAN glutathione S-transferase mu 5 96 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity p.R96C(1) NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GGAGAAGATTCGTGTGGACAT 0.542000 11 25 0 0 0.024245 0 0 ZNF142 7701 broad.mit.edu 37 2 219508926 219508926 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:219508926G>A ENST00000411696.2 - 7 3092 c.2313C>T c.(2311-2313)tcC>tcT p.S771S ZNF142_ENST00000449707.1_Silent_p.S771S P52746 ZN142_HUMAN zinc finger protein 142 771 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCTCCTCTAAGGATGGAGGAT 0.493000 16 75 0 0 0.004990 0 0 ABCG5 64240 broad.mit.edu 37 2 44053607 44053607 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:44053607G>A ENST00000260645.1 - 6 827 c.688C>T c.(688-690)Cag>Tag p.Q230* ABCG5_ENST00000405322.1_Intron|ABCG5_ENST00000543989.1_Intron NM_022436.2 NP_071881.1 Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 230 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACGACAATCTGATTAGCAGTC 0.532000 36 112 0 0 0.027894 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434112 22434112 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:22434112C>T ENST00000390442.3 + 0 221 TTCAATACTTCATGTGGTACA 0.463000 14 74 0 0 0.016723 0 0 GPR179 440435 broad.mit.edu 37 17 36484681 36484681 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:36484681C>T ENST00000342292.4 - 11 4791 c.4771G>A c.(4771-4773)Gaa>Aaa p.E1591K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1591 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGACAGATTTCTGTTTTGGCA 0.502000 21 106 0 0 0.016522 0 0 BMP5 653 broad.mit.edu 37 6 55739532 55739532 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:55739532C>T ENST00000370830.3 - 1 830 c.132G>A c.(130-132)cgG>cgA p.R44R BMP5_ENST00000446683.2_Silent_p.R44R NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 44 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTTCGTGGTTCCGTAGTCTTC 0.458000 12 75 0 0 0.010729 0 0 APOBR 55911 broad.mit.edu 37 16 28507134 28507134 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:28507134G>A ENST00000564831.1 + 2 805 c.772G>A c.(772-774)Gaa>Aaa p.E258K APOBR_ENST00000328423.5_Missense_Mutation_p.E258K|APOBR_ENST00000431282.1_Missense_Mutation_p.E258K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 258 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GAAGGCCTGTGAAAGCACTAG 0.637000 4 7 0 0 0.014758 0 0 OR10P1 121130 broad.mit.edu 37 12 56031320 56031320 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:56031320T>C ENST00000309675.2 + 1 677 c.645T>C c.(643-645)atT>atC p.I215I NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 215 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 TCTCTCTGATTGTCACCTCTT 0.572000 16 67 0 0 0.028581 0 0 KMT2D 8085 broad.mit.edu 37 12 49445231 49445231 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:49445231G>A ENST00000301067.7 - 10 2234 c.2235C>T c.(2233-2235)ccC>ccT p.P745P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCTCAGGCCGGGGTGACAGGT 0.697000 11 30 0 0 0.013537 0 0 MIR519C 574466 broad.mit.edu 37 19 54189747 54189747 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:54189747G>A ENST00000385053.1 + 0 25 NR_030188.1 CCTCTAGAGGGAAGCGCTTTC 0.393000 23 119 0 0 0.027356 0 0 ZC3H6 376940 broad.mit.edu 37 2 113060816 113060816 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:113060816C>T ENST00000409871.1 + 3 625 c.224C>T c.(223-225)cCa>cTa p.P75L ZC3H6_ENST00000343936.4_Missense_Mutation_p.P75L NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 75 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CATAATTCCCCATCTAGTGAT 0.363000 10 83 0 0 0.010729 0 0 LARP1 23367 broad.mit.edu 37 5 154092534 154092534 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:154092534G>A ENST00000336314.4 + 1 73 c.49G>A c.(49-51)Gag>Aag p.E17K NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 280 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCCTCACCCAGAGCTGGATTT 0.592000 7 49 0 0 0.003080 0 0 OR2M7 391196 broad.mit.edu 37 1 248487554 248487554 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248487554G>A ENST00000317965.2 - 1 345 c.317C>T c.(316-318)tCa>tTa p.S106L NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAAGCAATGATATATAGAA 0.458000 51 161 0 0 0.014410 0 0 SUSD2 56241 broad.mit.edu 37 22 24583706 24583706 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:24583706C>T ENST00000358321.3 + 12 2320 c.2059C>T c.(2059-2061)Cat>Tat p.H687Y NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 687 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TGGGGACGATCATTTCTGCAA 0.627000 10 47 0 0 0.006214 0 0 SLC12A6 9990 broad.mit.edu 37 15 34543123 34543123 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:34543123C>T ENST00000354181.3 - 11 1961 c.1469G>A c.(1468-1470)gGa>gAa p.G490E SLC12A6_ENST00000397702.2_Missense_Mutation_p.G431E|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G475E|SLC12A6_ENST00000458406.2_Missense_Mutation_p.G431E|SLC12A6_ENST00000560611.1_Missense_Mutation_p.G490E|SLC12A6_ENST00000560164.1_Missense_Mutation_p.G302E|SLC12A6_ENST00000451844.2_Missense_Mutation_p.G302E|SLC12A6_ENST00000290209.5_Missense_Mutation_p.G439E|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G481E|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G490E Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 490 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AAAGAAGATTCCCACCAGAAG 0.428000 4 31 0 0 0.009096 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107502 69107502 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:69107502C>T ENST00000332644.5 - 2 190 c.29G>A c.(28-30)aGa>aAa p.R10K NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 10 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TGGCCAAGATCTTTGGGAAGA 0.403000 6 51 0 0 0.001984 0 0 ESPNP 284729 broad.mit.edu 37 1 17033787 17033787 + RNA SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:17033787T>C ENST00000492551.1 - 0 691 NR_026567.1 TCGTACCAGGTTCTCCACCGT 0.647000 4 10 0 0 0.021553 0 0 CACNA1S 779 broad.mit.edu 37 1 201042677 201042677 + Splice_Site SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:201042677C>T ENST00000362061.3 - 15 2383 c.2157_splice c.e15+1 p.K719_splice CACNA1S_ENST00000367338.3_Splice_Site_p.K719_splice NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 719 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) AGGTGCTCACCTTGGCAGTGG 0.572000 86 246 0 0 0.014410 0 0 CD163L1 283316 broad.mit.edu 37 12 7521994 7521994 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:7521994C>T ENST00000313599.3 - 15 4055 c.3998G>A c.(3997-3999)aGt>aAt p.S1333N CD163L1_ENST00000416109.2_Missense_Mutation_p.S1343N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1333N Q9NR16 C163B_HUMAN CD163 molecule-like 1 1333 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCCACAGTCACTCTGTCCCCA 0.517000 19 70 0 0 0.008871 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675068 40675068 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:40675068G>A ENST00000416151.2 + 1 147 c.32G>A c.(31-33)aGa>aAa p.R11K KNSTRN_ENST00000249776.8_Missense_Mutation_p.R11K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R11K NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CCCCTGGACAGAGTTTTCCGT 0.592000 6 14 0 0 0.021553 0 0 OR51F2 119694 broad.mit.edu 37 11 4843347 4843347 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:4843347C>T ENST00000322110.5 + 1 797 c.732C>T c.(730-732)tcC>tcT p.S244S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATTGCTTCCTCAGAAGAGA 0.498000 8 40 0 0 0.003080 0 0 OR2W1 26692 broad.mit.edu 37 6 29012592 29012592 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:29012592C>T ENST00000377175.1 - 1 425 c.361G>A c.(361-363)Gat>Aat p.D121N NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GTAAAACGATCATAGGACATA 0.403000 12 17 0 0 0.013537 0 0 RTDR1 27156 broad.mit.edu 37 22 23401850 23401850 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:23401850C>A ENST00000216036.4 - 7 1033 c.837G>T c.(835-837)gaG>gaT p.E279D NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 279 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) AGTGCAGCAGCTCCAGGAGCA 0.657000 12 66 0.00316338 0.00342901 0.024245 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829553 146829553 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:146829553C>T ENST00000361727.3 + 8 1816 c.1300C>T c.(1300-1302)Cac>Tac p.H434Y NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 434 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGTGGGTGTTCACATCAACAT 0.428000 HNSCC(39;0.1) 6 18 0 0 0.004482 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366011 7366011 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7366011G>A ENST00000311403.4 - 4 2629 c.2290C>T c.(2290-2292)Cgc>Tgc p.R764C ZBTB4_ENST00000380599.4_Missense_Mutation_p.R764C NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 764 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CAGGTAAAGCGGGTGGAGGGC 0.706000 14 62 0 0 0.020292 0 0 IL1RL1 9173 broad.mit.edu 37 2 102956649 102956649 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:102956649G>A ENST00000311734.2 + 4 703 c.364G>A c.(364-366)Gta>Ata p.V122I IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 122 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GTATTCAACAGTATCTGGATC 0.343000 5 20 0 0 0.014758 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100564729 100564729 + RNA SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:100564729T>C ENST00000397112.4 - 0 584 NR_036632.1 large_intestine(1)|lung(3) 4 AACTGCTCCCTTAGGGCTCCC 0.488000 11 50 0 0 0.013537 0 0 ARNT 405 broad.mit.edu 37 1 150788808 150788808 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:150788808G>A ENST00000358595.5 - 19 2077 c.1877C>T c.(1876-1878)tCc>tTc p.S626F ARNT_ENST00000354396.2_Missense_Mutation_p.S624F|ARNT_ENST00000515192.1_Missense_Mutation_p.S612F|ARNT_ENST00000505755.1_Missense_Mutation_p.S611F 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 626 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) GGAGTGGCGGGAAATCTGGGC 0.522000 T ETV6 AML 13 29 0 0 0.013537 0 0 MCM3AP 8888 broad.mit.edu 37 21 47692684 47692684 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:47692684G>A ENST00000397708.1 - 9 2510 c.2256C>T c.(2254-2256)acC>acT p.T752T MCM3AP_ENST00000291688.1_Silent_p.T752T O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 752 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGTGAAACCGGGTGCACTTCT 0.552000 14 55 0 0 0.016723 0 0 KCNK1 3775 broad.mit.edu 37 1 233802600 233802600 + Silent SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:233802600C>A ENST00000366621.3 + 2 783 c.615C>A c.(613-615)gtC>gtA p.V205V KCNK1_ENST00000366620.1_Silent_p.V89V|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 205 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCTTCTCAGTCCTGGAGGATG 0.532000 12 76 4.93089e-13 5.456e-13 0.020292 1 0 FOLR4 390243 broad.mit.edu 37 11 94040624 94040624 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:94040624C>T ENST00000440961.2 + 4 542 c.498C>T c.(496-498)ctC>ctT p.L166L NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 173 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 CCCAGTGCCTCCCTTTCTCCC 0.597000 7 37 0 0 0.001984 0 0 OR6N1 128372 broad.mit.edu 37 1 158736065 158736065 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:158736065C>T ENST00000335094.2 - 1 427 c.408G>A c.(406-408)atG>atA p.M136I NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GTGTTGGGGTCATGAGGGTTG 0.527000 7 23 0 0 0.004482 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638438 48638438 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:48638438G>A ENST00000203407.5 - 8 1352 c.936C>T c.(934-936)ggC>ggT p.G312G NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 312 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AGTCATAGTGGCCGATGATGG 0.607000 7 12 0 0 0.003080 0 0 RNF213 57674 broad.mit.edu 37 17 78291019 78291019 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:78291019C>T ENST00000582970.1 + 16 2986 c.2843C>T c.(2842-2844)cCc>cTc p.P948L RNF213_ENST00000319921.4_Missense_Mutation_p.P948L|RNF213_ENST00000456466.1_Missense_Mutation_p.P948L|RNF213_ENST00000508628.2_Missense_Mutation_p.P997L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 948 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATCCAATTCCCCGCGGAGCAT 0.562000 12 45 0 0 0.024245 0 0 LILRA2 11027 broad.mit.edu 37 19 55086898 55086898 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:55086898G>A ENST00000251377.3 + 6 964 c.831G>A c.(829-831)caG>caA p.Q277Q LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q277Q|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.Q277Q|LILRA2_ENST00000391737.1_Silent_p.Q265Q leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GGCTCTCCCAGGCCAACTTCA 0.622000 20 50 0 0 0.008871 0 0 LSM14A 26065 broad.mit.edu 37 19 34699852 34699852 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:34699852C>T ENST00000544216.3 + 4 511 c.434C>T c.(433-435)tCc>tTc p.S145F LSM14A_ENST00000433627.5_Missense_Mutation_p.S145F|LSM14A_ENST00000540746.2_Intron NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 145 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TCTTTGACATCCTTTGGAACA 0.323000 5 17 0 0 0.014758 0 0 LASP1 3927 broad.mit.edu 37 17 37070713 37070713 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:37070713C>T ENST00000318008.6 + 5 824 c.493C>T c.(493-495)Ccg>Tcg p.P165S LASP1_ENST00000435347.3_Missense_Mutation_p.P165S|LASP1_ENST00000433206.2_Missense_Mutation_p.P109S NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 165 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 TCACCACATCCCGACCAGTGC 0.672000 T MLL AML 10 32 0 0 0.013537 0 0 GCSH 2653 broad.mit.edu 37 16 81121264 81121264 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:81121264C>T ENST00000315467.3 - 3 358 c.234G>A c.(232-234)gcG>gcA p.A78A GCSH_ENST00000566566.1_Silent_p.A78A NM_004483.4 NP_004474.2 P23434 GCSH_HUMAN glycine cleavage system protein H (aminomethyl carrier) 78 glycine cleavage complex|mitochondrion aminomethyltransferase activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2) 5 Glycine(DB00145) CATCTCCCAACGCTTCCTAAA 0.358000 8 24 0 0 0.004482 0 0 TRIB1 10221 broad.mit.edu 37 8 126445567 126445567 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:126445567C>T ENST00000311922.3 + 2 951 c.369C>T c.(367-369)ccC>ccT p.P123P TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 123 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) AGGTGTTTCCCATTAAACACT 0.522000 51 259 0 0 0.014410 0 0 HRH1 3269 broad.mit.edu 37 3 11301562 11301562 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:11301562C>T ENST00000397056.1 + 3 1030 c.839C>T c.(838-840)cCc>cTc p.P280L HRH1_ENST00000431010.2_Missense_Mutation_p.P280L|HRH1_ENST00000438284.2_Missense_Mutation_p.P280L NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 280 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) TCCCAAACCCCCAAGGAGATG 0.493000 6 42 0 0 0.003080 0 0 TNRC6C 57690 broad.mit.edu 37 17 76063945 76063945 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:76063945C>T ENST00000335749.4 + 5 3279 c.2710C>T c.(2710-2712)Caa>Taa p.Q904* TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.Q907*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.Q907*|TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.Q904*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.Q904*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.Q907* NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 907 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGCTGCTTCCCAAGAAAGCAC 0.517000 10 42 0 0 0.006214 0 0 CCDC135 84229 broad.mit.edu 37 16 57760123 57760123 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:57760123C>T ENST00000360716.3 + 14 2123 c.1902C>T c.(1900-1902)ttC>ttT p.F634F CCDC135_ENST00000394337.4_Silent_p.F634F|CCDC135_ENST00000336825.8_Silent_p.F569F Q8IY82 CC135_HUMAN coiled-coil domain containing 135 634 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AGCGCGAGTTCCTGCGGCGCA 0.657000 9 32 0 0 0.008291 0 0 LUZP2 338645 broad.mit.edu 37 11 25100118 25100118 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:25100118T>C ENST00000533227.1 + 12 984 c.697T>C c.(697-699)Tgc>Cgc p.C233R LUZP2_ENST00000336930.6_Missense_Mutation_p.C319R NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 319 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AATGCCTCCTTGCTCTGAATG 0.328000 11 32 0 0 0.013537 0 0 OLFM4 10562 broad.mit.edu 37 13 53624636 53624636 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:53624636G>A ENST00000219022.2 + 5 1341 c.1263G>A c.(1261-1263)tgG>tgA p.W421* NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 421 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TAAACACTTGGTATACCAAGC 0.413000 9 48 0 0 0.010729 0 0 APOB 338 broad.mit.edu 37 2 21245744 21245744 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:21245744G>A ENST00000233242.1 - 18 2902 c.2775C>T c.(2773-2775)atC>atT p.I925I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 925 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGGAAGGAATGATAAACTTCA 0.502000 56 181 0 0 0.014410 0 0 SULF2 55959 broad.mit.edu 37 20 46365545 46365545 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:46365545G>A ENST00000359930.4 - 3 1168 c.317C>T c.(316-318)aCc>aTc p.T106I SULF2_ENST00000361612.4_Missense_Mutation_p.T106I|SULF2_ENST00000467815.1_Missense_Mutation_p.T106I|SULF2_ENST00000484875.1_Missense_Mutation_p.T106I|SULF2_ENST00000478766.1_5'UTR NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 106 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GTTGGTGTAGGTGTTGTGGTT 0.602000 13 27 0 0 0.020292 0 0 ARAF 369 broad.mit.edu 37 X 47426077 47426077 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:47426077C>T ENST00000377045.4 + 7 791 c.597C>T c.(595-597)ttC>ttT p.F199F ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 199 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) ACTTCCCCTTCCCTGCCCCAG 0.637000 4 11 0 0 0.014758 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319155 21319155 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:21319155C>T ENST00000583088.1 + 3 1396 c.501C>T c.(499-501)atC>atT p.I167I KCNJ12_ENST00000331718.5_Silent_p.I167I NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CCCAGTCCATCGTGGGCTGCA 0.617000 Prostate(3;0.18) 4 36 0 0 0.009096 0 0 SIRPG 55423 broad.mit.edu 37 20 1630035 1630035 + Silent SNP C C T rs150700648 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:1630035C>T ENST00000303415.3 - 2 157 c.93G>A c.(91-93)gaG>gaA p.E31E SIRPG_ENST00000216927.4_Silent_p.E31E|SIRPG_ENST00000344103.4_Silent_p.E31E|SIRPG_ENST00000381583.2_Silent_p.E31E|SIRPG_ENST00000381580.1_5'UTR NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 31 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCATCTGTAGCTCCTCCTCAC 0.473000 12 35 0 0 0.013537 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192239 125192239 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:125192239G>A ENST00000431078.1 + 5 1072 c.708G>A c.(706-708)ggG>ggA p.G236G NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 236 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TCCAGAAGGGGAGGCTCGCCC 0.532000 6 13 0 0 0.021553 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599645 136599645 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:136599645G>A ENST00000531224.1 - 4 626 c.374C>T c.(373-375)tCc>tTc p.S125F BCLAF1_ENST00000392348.2_Missense_Mutation_p.S123F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S125F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S123F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S123F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S125F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 125 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTGCTTCTGGATCTTTGAGA 0.448000 13 129 0 0 0.024245 0 0 OGT 8473 broad.mit.edu 37 X 70781690 70781690 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:70781690G>A ENST00000373719.3 + 15 2134 c.1917G>A c.(1915-1917)atG>atA p.M639I OGT_ENST00000373701.3_Missense_Mutation_p.M629I NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 639 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TTGTAAATATGAATGGCTATA 0.373000 6 22 0 0 0.021553 0 0 ARMC4 55130 broad.mit.edu 37 10 28233336 28233336 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:28233336C>T ENST00000305242.5 - 12 1650 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K ARMC4_ENST00000537576.1_Missense_Mutation_p.E212K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E45K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 520 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGACTGATTTCCTTCAGTATT 0.343000 6 21 0 0 0.001984 0 0 DSG1 1828 broad.mit.edu 37 18 28914045 28914045 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:28914045G>A ENST00000257192.4 + 8 1097 c.885G>A c.(883-885)ttG>ttA p.L295L NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 295 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TAATTGATTTGGATGAAGAGT 0.323000 13 41 0 0 0.013537 0 0 GRM2 2912 broad.mit.edu 37 3 51751692 51751692 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:51751692G>A ENST00000395052.3 + 5 2638 c.2404G>A c.(2404-2406)Ggc>Agc p.G802S GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.G524S NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 802 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAGCCTCAGCGGCTCCGTGGT 0.632000 8 19 0 0 0.006214 0 0 MYH4 4622 broad.mit.edu 37 17 10352002 10352002 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:10352002C>T ENST00000255381.2 - 32 4574 c.4464G>A c.(4462-4464)gtG>gtA p.V1488V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1488 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGGCATTCTTCACCTTGAACA 0.443000 15 51 0 0 0.020292 0 0 ZW10 9183 broad.mit.edu 37 11 113608318 113608318 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:113608318G>A ENST00000200135.3 - 14 2136 c.1992C>T c.(1990-1992)gtC>gtT p.V664V NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 664 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTTTGCCAATGACCTCAGAAA 0.423000 16 61 0 0 0.004990 0 0 KRT33A 3883 broad.mit.edu 37 17 39506827 39506827 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:39506827C>T ENST00000007735.3 - 1 237 c.193G>A c.(193-195)Gac>Aac p.D65N NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 65 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GCCAGGCGGTCGTTCAGGAAC 0.622000 11 82 0 0 0.013537 0 0 LCE3D 84648 broad.mit.edu 37 1 152552270 152552270 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:152552270G>A ENST00000368787.3 - 2 199 c.143C>T c.(142-144)tCc>tTc p.S48F NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 48 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GCCGCCCTCGGAGCTAGGGCC 0.667000 16 43 0 0 0.004990 0 0 RTEL1 51750 broad.mit.edu 37 20 62324619 62324619 + Missense_Mutation SNP C C T rs143967591 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:62324619C>T ENST00000318100.4 + 30 3802 c.2975C>T c.(2974-2976)cCg>cTg p.P992L RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P992L|RTEL1_ENST00000360203.5_Missense_Mutation_p.P992L|RTEL1_ENST00000370018.3_Missense_Mutation_p.P992L|RTEL1_ENST00000370003.1_Missense_Mutation_p.P237L|RTEL1_ENST00000508582.2_Missense_Mutation_p.P1016L Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 992 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CGGGCACAGCCGGTCCTGGAC 0.637000 15 64 0 0 0.006122 0 0 FFAR3 2865 broad.mit.edu 37 19 35850335 35850335 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:35850335C>T ENST00000327809.4 + 2 744 c.543C>T c.(541-543)ctC>ctT p.L181L FFAR3_ENST00000594310.1_Silent_p.L181L NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 181 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TAGCCATCCTCCTGCCCGTGC 0.612000 4 22 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9012861 9012861 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:9012861G>A ENST00000397910.4 - 34 38786 c.38583C>T c.(38581-38583)ttC>ttT p.F12861F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12863 SEA 6. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTGATGGTGAAGTTGAGGG 0.532000 27 105 0 0 0.024334 0 0 WDR44 54521 broad.mit.edu 37 X 117527161 117527161 + Silent SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:117527161T>A ENST00000254029.3 + 4 1148 c.753T>A c.(751-753)tcT>tcA p.S251S WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Silent_p.S251S|WDR44_ENST00000371822.5_Silent_p.S226S NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 251 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CACCTCCTTCTCGACCTGCTC 0.463000 19 124 0 0 0.016522 0 0 LAMA1 284217 broad.mit.edu 37 18 6973109 6973109 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:6973109C>T ENST00000389658.3 - 47 6814 c.6721G>A c.(6721-6723)Gat>Aat p.D2241N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2241 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGTTTACATCCAGAACATTA 0.373000 10 62 0 0 0.013537 0 0 DNMT1 1786 broad.mit.edu 37 19 10250810 10250810 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:10250810G>A ENST00000340748.4 - 32 3905 c.3670C>T c.(3670-3672)Ccg>Tcg p.P1224S DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1224S|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1240S P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1224 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TGGCAGGGCGGCCCGCCGCAC 0.612000 7 37 0 0 0.004482 0 0 PEMT 10400 broad.mit.edu 37 17 17425608 17425608 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:17425608G>A ENST00000395781.2 - 3 387 c.306C>T c.(304-306)ttC>ttT p.F102F PEMT_ENST00000435340.2_Silent_p.F80F|PEMT_ENST00000395783.1_Silent_p.F65F|PEMT_ENST00000395782.1_Silent_p.F65F|PEMT_ENST00000255389.5_Silent_p.F102F NM_001267552.1 NP_001254481.1 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 65 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(2)|prostate(3) 7 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) GCGAGCGCAGGAAGTTCAGGA 0.622000 4 21 0 0 0.009096 0 0 ACTL8 81569 broad.mit.edu 37 1 18149517 18149517 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:18149517C>T ENST00000375406.1 + 2 230 c.14C>T c.(13-15)aCc>aTc p.T5I NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 5 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCTGCAAGAACCGTTATCATT 0.587000 4 25 0 0 0.009096 0 0 A1CF 29974 broad.mit.edu 37 10 52573658 52573658 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:52573658G>A ENST00000395489.2 - 12 1681 c.1285C>T c.(1285-1287)Cct>Tct p.P429S A1CF_ENST00000395495.1_Missense_Mutation_p.P381S|A1CF_ENST00000374001.1_Missense_Mutation_p.P428S|A1CF_ENST00000282641.2_Missense_Mutation_p.P436S|A1CF_ENST00000373997.3_Missense_Mutation_p.P428S|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.P436S|A1CF_ENST00000373995.3_Missense_Mutation_p.P436S|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 436 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.P428S(1)|p.P436S(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 AATGTGACAGGATTCATTGGG 0.438000 15 50 0 0 0.004990 0 0 SMS 6611 broad.mit.edu 37 X 22010804 22010804 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:22010804C>T ENST00000404933.2 + 10 1287 c.1035C>T c.(1033-1035)atC>atT p.I345I SMS_ENST00000415881.2_Silent_p.I249I|SMS_ENST00000379404.1_Silent_p.I292I NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 345 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) CAAAGGAGATCGTCTGTGTCC 0.423000 9 46 0 0 0.010729 0 0 RET 5979 broad.mit.edu 37 10 43609123 43609123 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:43609123G>A ENST00000355710.3 + 10 2111 c.1879_splice c.e10+1 p.D627_splice RET_ENST00000340058.5_Splice_Site_p.D627_splice NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 627 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGACATCCAGGGTGAGTGGGT 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 11 0 0 0.001984 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193724 193724 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:193724G>A ENST00000342878.2 + 2 88 c.68G>A c.(67-69)gGg>gAg p.G23E BET1L_ENST00000410108.1_Intron NM_145651.2 NP_663626.2 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 23 extracellular region binding endometrium(1)|liver(2)|lung(1)|skin(1) 5 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATGGCCACAGGGGAGGACAAC 0.582000 5 41 0 0 0.014758 0 0 POF1B 79983 broad.mit.edu 37 X 84585958 84585958 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:84585958C>T ENST00000262753.4 - 7 996 c.851G>A c.(850-852)gGa>gAa p.G284E POF1B_ENST00000373145.3_Missense_Mutation_p.G284E NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 284 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 ACAGTACCTTCCTCCAATTCT 0.358000 4 27 0 0 0.009096 0 0 PDGFC 56034 broad.mit.edu 37 4 157693945 157693945 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:157693945A>G ENST00000502773.1 - 4 1086 c.596T>C c.(595-597)cTt>cCt p.L199P PDGFC_ENST00000541126.1_Missense_Mutation_p.L36P|PDGFC_ENST00000422544.2_Missense_Mutation_p.L199P|PDGFC_ENST00000542208.1_Missense_Mutation_p.L44P|PDGFC_ENST00000504672.1_5'UTR NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 199 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATATCGAATAAGGTCTTCCAA 0.428000 6 23 0 0 0.001984 0 0 OR10P1 121130 broad.mit.edu 37 12 56031319 56031319 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:56031319T>A ENST00000309675.2 + 1 676 c.644T>A c.(643-645)aTt>aAt p.I215N NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 215 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 TTCTCTCTGATTGTCACCTCT 0.567000 16 68 0 0 0.028581 0 0 KCNB2 9312 broad.mit.edu 37 8 73850111 73850111 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:73850111G>A ENST00000523207.1 + 3 3109 c.2521G>A c.(2521-2523)Ggg>Agg p.G841R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 841 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCCTAGTGATGGGAGAGACCC 0.527000 9 47 0 0 0.004482 0 0 ZNF567 163081 broad.mit.edu 37 19 37210565 37210565 + Silent SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:37210565A>G ENST00000585696.1 + 3 2076 c.846A>G c.(844-846)gaA>gaG p.E282E ZNF567_ENST00000536254.2_Silent_p.E313E|ZNF567_ENST00000588311.1_Silent_p.E282E|ZNF567_ENST00000392163.2_Silent_p.E282E|ZNF567_ENST00000360729.4_Silent_p.E282E|ZNF850_ENST00000589390.1_Intron Q8N184 ZN567_HUMAN zinc finger protein 567 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTGCAATGAATGTGGTAAGT 0.423000 7 29 0 0 0.004482 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 23 89 1.9806e-07 2.17738e-07 0.014323 1 0 GUCY2F 2986 broad.mit.edu 37 X 108696928 108696928 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:108696928G>A ENST00000218006.2 - 4 1484 c.1193C>T c.(1192-1194)tCa>tTa p.S398L NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 398 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATTTCCATTTGAATCTGTCCT 0.438000 9 35 0 0 0.004482 0 0 PIGK 10026 broad.mit.edu 37 1 77632478 77632478 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:77632478C>T ENST00000370812.3 - 5 436 c.413G>A c.(412-414)aGg>aAg p.R138K PIGK_ENST00000445065.1_Missense_Mutation_p.R44K|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.R138K|PIGK_ENST00000370813.5_Missense_Mutation_p.R62K NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 138 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AGGTGGGATCCTCCCAGTTAA 0.338000 7 18 0 0 0.013537 0 0 OR52M1 119772 broad.mit.edu 37 11 4567353 4567353 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:4567353G>A ENST00000360213.1 + 1 933 c.933G>A c.(931-933)agG>agA p.R311R NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AAATACCAAGGATAGAAATGA 0.413000 7 20 0 0 0.003080 0 0 ROBO2 6092 broad.mit.edu 37 3 77645877 77645877 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:77645877G>A ENST00000461745.1 + 19 3730 c.2830G>A c.(2830-2832)Gag>Aag p.E944K ROBO2_ENST00000487694.3_Missense_Mutation_p.E960K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E944K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 944 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGCCCAAATGAGATTGGAAA 0.408000 16 52 0 0 0.007413 0 0 APOB 338 broad.mit.edu 37 2 21230175 21230175 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:21230175G>A ENST00000233242.1 - 26 9692 c.9565C>T c.(9565-9567)Cct>Tct p.P3189S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3189 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACAGCCAAAGGATTTGTGATG 0.348000 70 237 0 0 0.014410 0 0 TAF1L 138474 broad.mit.edu 37 9 32633900 32633900 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:32633900G>A ENST00000242310.4 - 1 1767 c.1678C>T c.(1678-1680)Ctc>Ttc p.L560F RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 560 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTGCCCAAGAGAATTCGACTC 0.448000 40 92 0 0 0.027894 0 0 NTRK3 4916 broad.mit.edu 37 15 88423566 88423566 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:88423566C>T ENST00000394480.1 - 18 2548 c.2227G>A c.(2227-2229)Ggg>Agg p.G743R NTRK3_ENST00000355254.2_Missense_Mutation_p.G743R|NTRK3_ENST00000360948.2_Missense_Mutation_p.G757R|NTRK3_ENST00000357724.2_Missense_Mutation_p.G749R|NTRK3_ENST00000557856.1_Missense_Mutation_p.G735R NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 757 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGATCACCCCGAAGCTCCAT 0.517000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 13 52 0 0 0.013537 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359506 70359506 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:70359506G>A ENST00000305107.6 - 2 821 c.775C>T c.(775-777)Cga>Tga p.R259* UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 259 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAGTAGTTTCGAATAAGCCAT 0.413000 12 34 0 0 0.010729 0 0 OR51A2 401667 broad.mit.edu 37 11 4976283 4976283 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:4976283G>A ENST00000380371.1 - 1 660 c.661C>T c.(661-663)Ctg>Ttg p.L221L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGAGGATCAGGGTGTAAGAC 0.428000 6 35 0 0 0.001984 0 0 PANX3 116337 broad.mit.edu 37 11 124489648 124489648 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:124489648C>T ENST00000284288.2 + 4 1063 c.996C>T c.(994-996)ttC>ttT p.F332F NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 332 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TCCTTCTTTTCCTCCGAGCTA 0.438000 7 33 0 0 0.001984 0 0 SNRK 54861 broad.mit.edu 37 3 43381975 43381975 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:43381975C>T ENST00000296088.7 + 5 1232 c.928C>T c.(928-930)Cga>Tga p.R310* SNRK_ENST00000454177.1_Nonsense_Mutation_p.R310*|SNRK_ENST00000437827.1_Nonsense_Mutation_p.R104*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R310* NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 310 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CATAGCGGATCGAGACGCCAT 0.483000 5 18 0 0 0.021553 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757090 56757090 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:56757090G>A ENST00000326855.2 + 1 744 c.702G>A c.(700-702)agG>agA p.R234R NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 234 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 GTGCAGGAAGGAAAAAATCCT 0.423000 16 47 0 0 0.028581 0 0 LILRP2 79166 broad.mit.edu 37 19 55221644 55221644 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:55221644C>T ENST00000413439.1 + 0 1415 AGGTGAGGAGCCCAGCAGGTT 0.677000 18 15 0 0 0.007413 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446612 107446612 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:107446612G>A ENST00000409382.3 - 5 1838 c.1228C>T c.(1228-1230)Cat>Tat p.H410Y ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H410Y|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H410Y NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 410 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AATTTAGGATGAAGAATGTAA 0.373000 30 51 0 0 0.006320 0 0 FGD3 89846 broad.mit.edu 37 9 95768347 95768347 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:95768347C>T ENST00000375482.3 + 6 1218 c.722C>T c.(721-723)gCc>gTc p.A241V FGD3_ENST00000337352.6_Missense_Mutation_p.A241V|FGD3_ENST00000416701.2_Missense_Mutation_p.A241V NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 241 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CAGAAGCTGGCCCCATTCCTG 0.547000 16 53 0 0 0.028581 0 0 CBL 867 broad.mit.edu 37 11 119170400 119170400 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:119170400C>T ENST00000264033.4 + 16 3006 c.2630C>T c.(2629-2631)gCt>gTt p.A877V NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 877 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) ATCCAGAAAGCTTTGGTCATT 0.532000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 35 190 0 0 0.023175 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558382 140558382 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:140558382G>A ENST00000239444.2 + 1 1012 c.767G>A c.(766-768)aGt>aAt p.S256N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 256 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGAGGACAGTCCAATAAGC 0.458000 23 107 0 0 0.027356 0 0 RPTN 126638 broad.mit.edu 37 1 152127768 152127768 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:152127768C>T ENST00000316073.3 - 3 1871 c.1807G>A c.(1807-1809)Gga>Aga p.G603R NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 603 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTTCTTGTTCCTTCAGTCCCT 0.453000 42 113 0 0 0.008740 0 0 NOTCH3 4854 broad.mit.edu 37 19 15300099 15300099 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:15300099C>T ENST00000263388.2 - 7 1252 c.1177G>A c.(1177-1179)Gac>Aac p.D393N NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 393 EGF-like 10; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GAGCACTCGTCCACATCCTGG 0.632000 18 65 0 0 0.010504 0 0 APBB1IP 54518 broad.mit.edu 37 10 26822407 26822407 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:26822407G>A ENST00000376236.4 + 9 1308 c.853G>A c.(853-855)Gaa>Aaa p.E285K NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 285 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGAAAGCAAGGAAACTAATGA 0.333000 4 19 0 0 0.021553 0 0 SPTB 6710 broad.mit.edu 37 14 65253310 65253310 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:65253310C>T ENST00000389722.3 - 15 3426 c.3373G>A c.(3373-3375)Gag>Aag p.E1125K SPTB_ENST00000556626.1_Missense_Mutation_p.E1125K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1125K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1125K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1125K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1125 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ATCACTTTCTCCCCAGACTCC 0.592000 3 15 0 0 0.004672 0 0 ZFP42 132625 broad.mit.edu 37 4 188924380 188924380 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:188924380C>T ENST00000326866.4 + 4 827 c.419C>T c.(418-420)tCg>tTg p.S140L ZFP42_ENST00000509524.1_Missense_Mutation_p.S140L NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 140 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAGAGAATTCGCTTGAGTAT 0.423000 16 56 0 0 0.024245 0 0 RLF 6018 broad.mit.edu 37 1 40702247 40702247 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:40702247C>T ENST00000372771.4 + 8 1900 c.1873C>T c.(1873-1875)Caa>Taa p.Q625* NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 625 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAAGGCTCTCAAAAGGGTAT 0.408000 5 30 0 0 0.014758 0 0 OR2B2 81697 broad.mit.edu 37 6 27879450 27879450 + Silent SNP T T G rs147063988 by1000genomes TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:27879450T>G ENST00000303324.2 - 1 724 c.648A>C c.(646-648)atA>atC p.I216I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I216I(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AAGCATACGATATAAGGATGA 0.443000 4 44 0 0 0.014758 0 0 IL17F 112744 broad.mit.edu 37 6 52103617 52103617 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:52103617C>T ENST00000336123.4 - 2 272 c.165G>A c.(163-165)atG>atA p.M55I NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 55 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TGTCAAGCTTCATACTACCTC 0.502000 27 33 0 0 0.027356 0 0 RP1 6101 broad.mit.edu 37 8 55540151 55540151 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:55540151G>A ENST00000220676.1 + 4 3857 c.3709G>A c.(3709-3711)Gga>Aga p.G1237R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1237 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCTTTGGATGGAGGTTGCTC 0.448000 19 68 0 0 0.012319 0 0 METTL15 196074 broad.mit.edu 37 11 28311899 28311899 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:28311899C>T ENST00000342303.5 + 5 1009 c.554C>T c.(553-555)tCc>tTc p.S185F METTL15_ENST00000303459.6_Missense_Mutation_p.S185F|METTL15_ENST00000407364.3_Missense_Mutation_p.S185F|METTL15_ENST00000406787.3_Missense_Mutation_p.S185F NM_152636.2 NP_689849.2 A6NJ78 MET15_HUMAN methyltransferase like 15 185 methyltransferase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 AGAGGTTTTTCCCTTCGGAAA 0.408000 22 95 0 0 0.024334 0 0 DUSP2 1844 broad.mit.edu 37 2 96809623 96809623 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:96809623G>A ENST00000288943.4 - 4 969 c.884C>T c.(883-885)tCc>tTc p.S295F NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 295 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) GAAGTTGGGGGAGATGACCCC 0.622000 4 14 0 0 0.009096 0 0 PDPN 10630 broad.mit.edu 37 1 13936941 13936941 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:13936941A>T ENST00000294489.6 + 3 830 c.489A>T c.(487-489)gaA>gaT p.E163D PDPN_ENST00000376057.4_Missense_Mutation_p.E163D|PDPN_ENST00000487038.1_Missense_Mutation_p.E45D|PDPN_ENST00000376061.4_Missense_Mutation_p.E45D|PDPN_ENST00000513143.1_Missense_Mutation_p.E45D|PDPN_ENST00000475043.1_Missense_Mutation_p.E45D|PDPN_ENST00000509009.1_Missense_Mutation_p.E82D Q86YL7 PDPN_HUMAN podoplanin 87 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CAACTTCAGAAAGCACAGTCC 0.507000 9 27 0 0 0.006214 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877120 24877120 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:24877120C>T ENST00000382554.3 + 3 562 c.244C>T c.(244-246)Cgc>Tgc p.R82C NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 82 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GAAAGAGGTTCGCTACCCACC 0.637000 10 47 0 0 0.010729 0 0 ABLIM1 3983 broad.mit.edu 37 10 116247758 116247758 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:116247758G>C ENST00000533213.2 - 8 1121 c.820C>G c.(820-822)Ccc>Gcc p.P274A ABLIM1_ENST00000277895.5_Missense_Mutation_p.P334A|ABLIM1_ENST00000369266.3_Missense_Mutation_p.P18A|ABLIM1_ENST00000369252.4_Missense_Mutation_p.P274A|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P18A|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P18A O14639 ABLM1_HUMAN actin binding LIM protein 1 334 LIM zinc-binding 3. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TTACAGTCGGGATGCCAAACG 0.483000 6 82 0 0 0.001984 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167787 140167787 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:140167787G>A ENST00000504120.2 + 1 1912 c.1912G>A c.(1912-1914)Gac>Aac p.D638N PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D638N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGTCCTGGACGAGGCTGA 0.652000 14 50 0 0 0.024245 0 0 ZFR 51663 broad.mit.edu 37 5 32407028 32407028 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:32407028C>T ENST00000265069.8 - 6 985 c.883G>A c.(883-885)Gct>Act p.A295T NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 295 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) gcagcagcagcagctgctgct 0.488000 6 13 0 0 0.021553 0 0 PTPN2 5771 broad.mit.edu 37 18 12840734 12840734 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:12840734C>T ENST00000591497.1 - 2 304 c.52G>A c.(52-54)Gaa>Aaa p.E18K PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591115.1_Intron P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 0 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) ATTCTGCATTCCATGTCTCCC 0.423000 9 20 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9063534 9063534 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:9063534G>A ENST00000397910.4 - 3 24115 c.23912C>T c.(23911-23913)tCc>tTc p.S7971F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7973 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGAGAAAAGGAAGGTCTAGT 0.478000 7 26 0 0 0.003080 0 0 ACAN 176 broad.mit.edu 37 15 89416190 89416190 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:89416190G>A ENST00000439576.2 + 16 7641 c.7267G>A c.(7267-7269)Gag>Aag p.E2423K ACAN_ENST00000559004.1_Missense_Mutation_p.E2385K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2385K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2423K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2423 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GATCTGGCACGAGAAGGGCGA 0.572000 6 16 0 0 0.021553 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687308 8687308 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:8687308T>C ENST00000299663.3 - 6 751 c.586A>G c.(586-588)Acc>Gcc p.T196A CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.T151A NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 196 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AGGAAACAGGTTACATCATTC 0.418000 16 45 0 0 0.024245 0 0 ITLN1 55600 broad.mit.edu 37 1 160854622 160854622 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:160854622C>T ENST00000326245.3 - 2 161 c.46G>A c.(46-48)Gga>Aga p.G16R NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 16 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTACTCCATCCTCTGGTGGTC 0.493000 23 127 0 0 0.024334 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855988 12855988 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:12855988T>C ENST00000332296.7 + 4 1371 c.1268T>C c.(1267-1269)gTt>gCt p.V423A PRAMEF1_ENST00000400814.3_Missense_Mutation_p.V178A NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 423 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AATTCCTTGGTTCGTGTCAAT 0.562000 14 155 0 0 0.007413 0 0 SLC7A9 11136 broad.mit.edu 37 19 33321549 33321549 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:33321549G>A ENST00000023064.4 - 13 1632 c.1441C>T c.(1441-1443)Cca>Tca p.P481S SLC7A9_ENST00000587772.1_Missense_Mutation_p.P481S|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P481S NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 481 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) TCCTCCGGTGGGACCACTTCC 0.393000 21 59 0 0 0.024334 0 0 MS4A8 83661 broad.mit.edu 37 11 60470945 60470945 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:60470945G>A ENST00000300226.2 + 3 517 c.314G>A c.(313-315)gGa>gAa p.G105E NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 TCATTCTACGGAGGCTTTCCC 0.562000 17 78 0 0 0.008871 0 0 FOXK1 221937 broad.mit.edu 37 7 4780522 4780522 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:4780522A>G ENST00000328914.4 + 2 614 c.614A>G c.(613-615)tAt>tGt p.Y205C FOXK1_ENST00000446823.1_Missense_Mutation_p.Y42C NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 205 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACGTCGCTCTATCACAAAGAA 0.617000 28 106 0 0 0.006320 0 0 DENND1A 57706 broad.mit.edu 37 9 126144351 126144351 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:126144351G>A ENST00000373624.2 - 22 2591 c.2390C>T c.(2389-2391)aCc>aTc p.T797I DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.T582I|DENND1A_ENST00000394219.3_Missense_Mutation_p.T808I NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 797 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TGACGGGAGGGTGCTGCCTGA 0.701000 7 19 0 0 0.004482 0 0 PCED1B 91523 broad.mit.edu 37 12 47628897 47628897 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:47628897C>T ENST00000546455.1 + 4 782 c.51C>T c.(49-51)ttC>ttT p.F17F PCED1B_ENST00000432328.1_Silent_p.F17F PC-esterase domain containing 1B p.F17F(2) ACAATAAGTTCGTGGTCATCC 0.592000 5 17 0 0 0.014758 0 0 GP2 2813 broad.mit.edu 37 16 20329707 20329707 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:20329707C>A ENST00000302555.5 - 7 1202 c.1053G>T c.(1051-1053)agG>agT p.R351S GP2_ENST00000381360.5_Missense_Mutation_p.R207S|GP2_ENST00000341642.5_Missense_Mutation_p.R204S|GP2_ENST00000381362.4_Missense_Mutation_p.R354S P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 354 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGAGGGCCATCCTGACAATGA 0.483000 19 95 5.35047e-06 5.85186e-06 0.018920 1 0 ZNF334 55713 broad.mit.edu 37 20 45130982 45130982 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:45130982C>T ENST00000457685.2 - 6 2205 c.882G>A c.(880-882)cgG>cgA p.R294R ZNF334_ENST00000347606.4_Silent_p.R332R|ZNF334_ENST00000593880.1_Silent_p.R355R Q9HCZ1 ZN334_HUMAN zinc finger protein 334 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGGCTGACTTCCGAAAAAAGG 0.433000 13 49 0 0 0.013537 0 0 PWP2 5822 broad.mit.edu 37 21 45537723 45537723 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:45537723G>A ENST00000291576.7 + 8 986 c.859G>A c.(859-861)Gat>Aat p.D287N NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 287 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TAAAGAAGGGGATTTTAACAA 0.493000 26 64 0 0 0.018920 0 0 NOS3 4846 broad.mit.edu 37 7 150697609 150697609 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:150697609G>A ENST00000297494.3 + 10 1512 c.1155G>A c.(1153-1155)ctG>ctA p.L385L NOS3_ENST00000467517.1_Silent_p.L385L|NOS3_ENST00000484524.1_Silent_p.L385L|NOS3_ENST00000461406.1_Silent_p.L179L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 385 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCATGGACCTGGATACCCGGA 0.602000 4 28 0 0 0.014758 0 0 DOCK10 55619 broad.mit.edu 37 2 225751242 225751242 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:225751242T>C ENST00000409592.3 - 5 518 c.405A>G c.(403-405)gaA>gaG p.E135E DOCK10_ENST00000258390.7_Silent_p.E141E Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 141 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTGGTTTGTATTCTGCTCTGA 0.343000 8 18 0 0 0.004482 0 0 SLC38A1 81539 broad.mit.edu 37 12 46601349 46601349 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:46601349G>A ENST00000398637.5 - 7 1138 c.444C>T c.(442-444)ttC>ttT p.F148F SLC38A1_ENST00000546893.1_Silent_p.F148F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Silent_p.F148F|SLC38A1_ENST00000439706.1_Silent_p.F148F|SLC38A1_ENST00000552197.1_Silent_p.F148F NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 148 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CAAAGATTACGAACTTCCCTG 0.413000 12 72 0 0 0.020292 0 0 PHYKPL 85007 broad.mit.edu 37 5 177649486 177649486 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:177649486C>T ENST00000308158.5 - 8 1031 c.797G>A c.(796-798)gGa>gAa p.G266E PHYKPL_ENST00000481811.1_Intron NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase GAAGTCTTTTCCCTGGAGCTG 0.607000 6 52 0 0 0.021553 0 0 SMS 6611 broad.mit.edu 37 X 22002442 22002442 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:22002442C>T ENST00000404933.2 + 8 1023 c.771C>T c.(769-771)atC>atT p.I257I SMS_ENST00000415881.2_Silent_p.I161I|SMS_ENST00000379404.1_Silent_p.I204I NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 257 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) AAGACTGTATCCCGGTACTGA 0.398000 20 64 0 0 0.016522 0 0 FAM71B 153745 broad.mit.edu 37 5 156589974 156589974 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:156589974C>T ENST00000302938.4 - 2 1397 c.1302G>A c.(1300-1302)aaG>aaA p.K434K NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 434 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCTGTCCTTCTTTTCTCTTC 0.502000 35 318 0 0 0.015359 0 0 DPP10 57628 broad.mit.edu 37 2 116257132 116257132 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:116257132G>A ENST00000410059.1 + 4 798 c.318G>A c.(316-318)ctG>ctA p.L106L DPP10_ENST00000393147.2_Silent_p.L110L|DPP10_ENST00000409163.1_Silent_p.L56L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.L99L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 106 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCATTAAACTGAATATAGAAA 0.289000 6 27 0 0 0.001984 0 0 MCHR1 2847 broad.mit.edu 37 22 41077399 41077399 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:41077399C>T ENST00000249016.4 + 2 1432 c.736C>T c.(736-738)Cct>Tct p.P246S MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 246 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CAGCATCACCCCTGTGTGGCT 0.617000 12 53 0 0 0.010729 0 0 ABCC12 94160 broad.mit.edu 37 16 48174678 48174678 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:48174678G>A ENST00000311303.3 - 4 922 c.577C>T c.(577-579)Cgg>Tgg p.R193W ABCC12_ENST00000416054.1_Missense_Mutation_p.R193W|ABCC12_ENST00000448542.1_Missense_Mutation_p.R193W NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 193 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ACCTTCAACCGGATGGCCGTG 0.532000 11 73 0 0 0.008291 0 0 PTPRB 5787 broad.mit.edu 37 12 70988417 70988417 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:70988417C>T ENST00000334414.6 - 6 1390 c.1346G>A c.(1345-1347)cGa>cAa p.R449Q PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R231Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R448Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R449Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R231Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R231Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R231Q NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 231 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAGCCGGTATCGTTCCACATT 0.473000 6 44 0 0 0.001984 0 0 ALLC 55821 broad.mit.edu 37 2 3726094 3726094 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:3726094G>A ENST00000252505.3 + 4 283 c.121G>A c.(121-123)Gag>Aag p.E41K NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 60 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TGAATATACGGAGTTTGGGAA 0.468000 HNSCC(21;0.051) 6 26 0 0 0.001984 0 0 DEFA4 1669 broad.mit.edu 37 8 6794348 6794348 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:6794348C>T ENST00000297435.2 - 2 198 c.74G>A c.(73-75)aGa>aAa p.R25K NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 25 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTCATCACCTCTTGCCTGGAG 0.577000 11 31 0 0 0.008291 0 0 DNAH9 1770 broad.mit.edu 37 17 11572782 11572782 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:11572782C>A ENST00000262442.3 + 17 3092 c.3024C>A c.(3022-3024)agC>agA p.S1008R DNAH9_ENST00000454412.2_Missense_Mutation_p.S1008R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1008 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTATCAGAGCACCTTCAGCC 0.542000 12 53 0.000978159 0.00106165 0.010729 1 0 PEG3 5178 broad.mit.edu 37 19 57327145 57327145 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:57327145G>A ENST00000326441.9 - 10 3028 c.2665C>T c.(2665-2667)Cgc>Tgc p.R889C ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R765C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R763C|PEG3_ENST00000423103.2_Missense_Mutation_p.R889C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 889 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCATAGTTGCGATTCTTACTG 0.443000 28 42 0 0 0.027356 0 0 HMGB3 3149 broad.mit.edu 37 X 150154590 150154590 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:150154590C>T ENST00000325307.7 + 3 313 c.217C>T c.(217-219)Cgg>Tgg p.R73W HMGB3_ENST00000448905.2_Missense_Mutation_p.R73W NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 73 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) GCGCTATGATCGGGAAATGAA 0.438000 6 16 0 0 0.021553 0 0 KCNQ5 56479 broad.mit.edu 37 6 73751747 73751747 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:73751747G>A ENST00000342056.2 + 3 976 c.578G>A c.(577-579)gGa>gAa p.G193E KCNQ5_ENST00000403813.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G193E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G193E NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 193 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GGATGGCAAGGAAGACTGAGG 0.438000 23 87 0 0 0.016522 0 0 CRCT1 54544 broad.mit.edu 37 1 152487900 152487900 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:152487900C>T ENST00000368790.3 + 2 114 c.41C>T c.(40-42)tCc>tTc p.S14F NM_019060.2 NP_061933.1 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 14 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AAAGGCTTTTCCAAGGGGTCG 0.687000 5 17 0 0 0.014758 0 0 TRAK1 22906 broad.mit.edu 37 3 42243952 42243952 + Silent SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:42243952G>C ENST00000327628.5 + 13 1852 c.1452G>C c.(1450-1452)ccG>ccC p.P484P TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.P410P|TRAK1_ENST00000341421.3_Silent_p.P426P|TRAK1_ENST00000396175.1_Silent_p.P426P NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 484 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GTAAGAAGCCGGGGACGCCGG 0.642000 4 43 0 0 0.021553 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185375161 185375161 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:185375161G>A ENST00000382199.2 - 12 1394 c.1299C>T c.(1297-1299)ttC>ttT p.F433F IGF2BP2_ENST00000346192.3_Silent_p.F390F|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Silent_p.F376F|IGF2BP2_ENST00000457616.2_Silent_p.F439F NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 433 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GGGTTGGGATGAAGAGATTCA 0.557000 33 164 0 0 0.013726 0 0 OR8D4 338662 broad.mit.edu 37 11 123777295 123777295 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123777295C>T ENST00000321355.2 + 1 187 c.157C>T c.(157-159)Cgt>Tgt p.R53C NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TAGGCTGAATCGTCAACTTCA 0.408000 18 88 0 0 0.007413 0 0 TRHR 7201 broad.mit.edu 37 8 110131514 110131514 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:110131514G>A ENST00000518632.1 + 3 1378 c.1027G>A c.(1027-1029)Gag>Aag p.E343K TRHR_ENST00000311762.2_Missense_Mutation_p.E343K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 343 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GAAGCCAACAGAGAAACCTGC 0.458000 27 66 0 0 0.024334 0 0 ZNF45 7596 broad.mit.edu 37 19 44418288 44418288 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:44418288G>A ENST00000269973.5 - 10 2390 c.1300C>T c.(1300-1302)Cat>Tat p.H434Y ZNF45_ENST00000589703.1_Missense_Mutation_p.H434Y|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 434 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ACTCTAAAATGAATGTTAAAA 0.473000 28 60 0 0 0.010818 0 0 TBC1D9 23158 broad.mit.edu 37 4 141555209 141555209 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:141555209G>A ENST00000442267.2 - 16 2713 c.2639C>T c.(2638-2640)cCt>cTt p.P880L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 880 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACATGCCCAAGGAAAGAGAAG 0.507000 3 21 0 0 0.004672 0 0 SNAP47 116841 broad.mit.edu 37 1 227935643 227935643 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:227935643C>T ENST00000366759.4 + 2 755 c.341C>T c.(340-342)aCc>aTc p.T114I SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.T114I NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 114 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 AGCTCCATCACCATCCTGGAG 0.522000 11 63 0 0 0.008291 0 0 SLC6A2 6530 broad.mit.edu 37 16 55703514 55703514 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:55703514C>T ENST00000379906.2 + 2 567 c.312C>T c.(310-312)atC>atT p.I104I SLC6A2_ENST00000219833.8_Silent_p.I104I|SLC6A2_ENST00000561820.1_Silent_p.I104I|SLC6A2_ENST00000566163.1_Silent_p.I104I|SLC6A2_ENST00000414754.3_Silent_p.I104I|SLC6A2_ENST00000568943.1_Silent_p.I104I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 104 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCCTTATCATCGCGGGGATGC 0.572000 4 46 0 0 0.009096 0 0 MUC3A 4584 broad.mit.edu 37 7 100552193 100552193 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:100552193C>T ENST00000319509.7 + 1 944 c.944C>T c.(943-945)tCc>tTc p.S315F mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCTTATATTTCCCTTCCCTCC 0.488000 15 214 0 0 0.024245 0 0 FAT3 120114 broad.mit.edu 37 11 92086925 92086925 + Silent SNP C C G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:92086925C>G ENST00000298047.6 + 1 1664 c.1647C>G c.(1645-1647)gcC>gcG p.A549A FAT3_ENST00000541502.1_Silent_p.A549A|FAT3_ENST00000525166.1_Silent_p.A399A|FAT3_ENST00000409404.2_Silent_p.A549A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 549 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTGTTAGAGCCTCTGACTGGG 0.403000 TCGA Ovarian(4;0.039) 92 308 0 0 0.014410 0 0 AEBP1 165 broad.mit.edu 37 7 44151903 44151903 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:44151903C>T ENST00000223357.3 + 17 2505 c.2200C>T c.(2200-2202)Ctt>Ttt p.L734F AEBP1_ENST00000450684.2_Missense_Mutation_p.L309F NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 734 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 TGAACGCTACCTTTCGCCAGA 0.612000 7 27 0 0 0.003080 0 0 CP 1356 broad.mit.edu 37 3 148925395 148925395 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:148925395C>T ENST00000264613.6 - 5 1053 c.791G>A c.(790-792)gGa>gAa p.G264E NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 264 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) AAAAGTGTATCCATTCACAGC 0.398000 7 39 0 0 0.006214 0 0 ZNF185 7739 broad.mit.edu 37 X 152085689 152085689 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:152085689G>A ENST00000535861.1 + 4 287 c.239G>A c.(238-240)aGg>aAg p.R80K ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000539731.1_Missense_Mutation_p.R80K|ZNF185_ENST00000449285.2_Missense_Mutation_p.R80K|ZNF185_ENST00000318504.7_Missense_Mutation_p.R80K|ZNF185_ENST00000370268.4_Missense_Mutation_p.R80K NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 80 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGCACAAGGGCTCCCACT 0.597000 18 56 0 0 0.021523 0 0 UNC13D 201294 broad.mit.edu 37 17 73836339 73836339 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:73836339C>A ENST00000207549.4 - 10 1204 c.825G>T c.(823-825)caG>caT p.Q275H UNC13D_ENST00000412096.2_Missense_Mutation_p.Q275H|UNC13D_ENST00000587504.1_5'UTR NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 275 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAGGTGGCACTGGCCTCGGT 0.672000 Familial Hemophagocytic Lymphohistiocytosis 10 23 2.17888e-05 2.37392e-05 0.006214 1 0 FSIP2 401024 broad.mit.edu 37 2 186673140 186673140 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:186673140T>A ENST00000343098.5 + 17 19374 c.19374T>A c.(19372-19374)gaT>gaA p.D6458E FSIP2_ENST00000424728.1_Missense_Mutation_p.D6369E NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAAGCAAAGATGAAAAAAACT 0.348000 5 22 0 0 0.021553 0 0 TRIM3 10612 broad.mit.edu 37 11 6478024 6478024 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:6478024T>C ENST00000525074.1 - 6 1326 c.932A>G c.(931-933)aAt>aGt p.N311S TRIM3_ENST00000537602.1_Missense_Mutation_p.N233S|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.N192S|TRIM3_ENST00000359518.3_Missense_Mutation_p.N311S|TRIM3_ENST00000345851.3_Missense_Mutation_p.N311S NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 311 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCGCCCAGATTGAGCACCGA 0.667000 4 80 0 0 0.009096 0 0 CUL1 8454 broad.mit.edu 37 7 148496393 148496393 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:148496393G>A ENST00000325222.4 + 21 2442 c.2163G>A c.(2161-2163)atG>atA p.M721I CUL1_ENST00000409469.1_Missense_Mutation_p.M721I|CUL1_ENST00000602748.1_Missense_Mutation_p.M721I NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 721 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TCATGAAGATGAGGAAGGTTC 0.453000 7 27 0 0 0.006214 0 0 PRSS45 377047 broad.mit.edu 37 3 46784534 46784534 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:46784534C>T ENST00000442359.2 - 3 321 c.322G>A c.(322-324)Gag>Aag p.E108K PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 140 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 ACCTCAGCCTCCTGCAGCTCT 0.577000 12 39 0 0 0.016723 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701967 96701967 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:96701967G>A ENST00000260682.6 + 3 362 c.350G>A c.(349-351)gGa>gAa p.G117E CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 117 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTCAGCAATGGAAAGAAATGG 0.522000 9 26 0 0 0.010729 0 0 PRG4 10216 broad.mit.edu 37 1 186276717 186276717 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:186276717G>A ENST00000445192.2 + 7 1911 c.1866G>A c.(1864-1866)aaG>aaA p.K622K PRG4_ENST00000367483.4_Silent_p.K581K|PRG4_ENST00000367485.4_Silent_p.K529K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K579K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 622 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCACCCCCAAGAAGCTCACGC 0.667000 5 6 0 0 0.014758 0 0 OR5D14 219436 broad.mit.edu 37 11 55563223 55563223 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55563223C>T ENST00000335605.1 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGTACTTTTTCCTTAGTCACC 0.368000 7 46 0 0 0.001984 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 52 0 0 0.009096 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47121384 47121384 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:47121384C>T ENST00000290341.3 + 11 1590 c.1256C>T c.(1255-1257)gCc>gTc p.A419V IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A280V NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 419 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGTGGGCGCCATCATCGGC 0.597000 16 58 0 0 0.004990 0 0 ITPKB 3707 broad.mit.edu 37 1 226924549 226924549 + Missense_Mutation SNP G G A rs137905849 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:226924549G>A ENST00000429204.1 - 2 938 c.611C>T c.(610-612)tCc>tTc p.S204F ITPKB_ENST00000366784.1_Missense_Mutation_p.S204F|ITPKB_ENST00000272117.3_Missense_Mutation_p.S204F NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 204 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CTCCCCCCAGGACTTTGTCCT 0.647000 19 53 0 0 0.007413 0 0 GPR20 2843 broad.mit.edu 37 8 142367729 142367729 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:142367729C>T ENST00000377741.3 - 2 385 c.295G>A c.(295-297)Gat>Aat p.D99N NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 99 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ACCAGTAGATCGGTCACCACC 0.647000 6 27 0 0 0.021553 0 0 AKAP12 9590 broad.mit.edu 37 6 151670948 151670948 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:151670948G>A ENST00000402676.2 + 4 1662 c.1422G>A c.(1420-1422)gaG>gaA p.E474E AKAP12_ENST00000359755.5_Silent_p.E369E|AKAP12_ENST00000253332.1_Silent_p.E474E|AKAP12_ENST00000354675.6_Silent_p.E376E NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 474 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) TTTCCGGAGAGGACCCTACAC 0.532000 17 38 0 0 0.028581 0 0 CNGB3 54714 broad.mit.edu 37 8 87738864 87738864 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:87738864G>A ENST00000320005.5 - 3 280 c.233C>T c.(232-234)tCc>tTc p.S78F RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 78 signal transduction|visual perception integral to membrane cGMP binding p.S78F(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATCTCCAGAGGAATTTTTCTT 0.428000 6 220 0 0 0.001984 0 0 DAB1 1600 broad.mit.edu 37 1 57481077 57481077 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:57481077G>A ENST00000371236.2 - 12 1186 c.923C>T c.(922-924)cCg>cTg p.P308L DAB1_ENST00000371231.1_Missense_Mutation_p.P341L|DAB1_ENST00000371234.4_Missense_Mutation_p.P308L|DAB1_ENST00000420954.2_Missense_Mutation_p.P306L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P222L|DAB1_ENST00000414851.2_Missense_Mutation_p.P290L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 341 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CCAGAAGGACGGGAGGACAGC 0.592000 9 20 0 0 0.004482 0 0 RXFP4 339403 broad.mit.edu 37 1 155911936 155911936 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:155911936G>A ENST00000368318.3 + 1 457 c.436G>A c.(436-438)Gct>Act p.A146T NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 146 integral to membrane|plasma membrane angiotensin type II receptor activity endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGTGGCCATGGCTGCGGGGCC 0.637000 17 38 0 0 0.028581 0 0 TAF1L 138474 broad.mit.edu 37 9 32633616 32633616 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:32633616T>C ENST00000242310.4 - 1 2051 c.1962A>G c.(1960-1962)tcA>tcG p.S654S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 654 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAGGTTGGACTGAATGGGGAC 0.498000 7 40 0 0 0.004482 0 0 KIAA1217 56243 broad.mit.edu 37 10 24721967 24721967 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:24721967G>A ENST00000376454.3 + 4 627 c.597G>A c.(595-597)agG>agA p.R199R KIAA1217_ENST00000430453.2_Silent_p.R120R|KIAA1217_ENST00000458595.1_Silent_p.R199R|KIAA1217_ENST00000376452.3_Silent_p.R199R|KIAA1217_ENST00000376462.1_Silent_p.R119R NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 199 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGCAGCTCAGGATGCCGAATG 0.493000 5 38 0 0 0.003080 0 0 CLEC4E 26253 broad.mit.edu 37 12 8691861 8691861 + Nonsense_Mutation SNP G G A rs143517337 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:8691861G>A ENST00000299663.3 - 3 337 c.172C>T c.(172-174)Cag>Tag p.Q58* CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.Q58*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.Q58* NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 58 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TCAGGTAGCTGAAACTTTTTC 0.363000 19 89 0 0 0.012319 0 0 STOML3 161003 broad.mit.edu 37 13 39542552 39542552 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:39542552C>T ENST00000379631.4 - 6 980 c.636G>A c.(634-636)cgG>cgA p.R212R STOML3_ENST00000423210.1_Silent_p.R203R NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 212 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CTCTCGCTTCCCGGGTGGCCT 0.567000 9 49 0 0 0.006214 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129296 248129296 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248129296C>T ENST00000366480.3 + 1 762 c.663C>T c.(661-663)atC>atT p.I221I OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GACTTATTATCTTGCTACTAC 0.443000 14 21 0 0 0.016723 0 0 ASCC2 84164 broad.mit.edu 37 22 30209479 30209479 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:30209479G>A ENST00000397771.2 - 9 950 c.773C>T c.(772-774)gCc>gTc p.A258V ASCC2_ENST00000542393.1_Missense_Mutation_p.A182V|ASCC2_ENST00000307790.3_Missense_Mutation_p.A258V|ASCC2_ENST00000478812.1_5'UTR Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) ATCCAGAAAGGCCCAAAGTGT 0.448000 7 36 0 0 0.004482 0 0 DCC 1630 broad.mit.edu 37 18 50683815 50683815 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:50683815C>T ENST00000442544.2 + 8 1967 c.1351C>T c.(1351-1353)Cca>Tca p.P451S DCC_ENST00000412726.1_Missense_Mutation_p.P299S|DCC_ENST00000581580.1_Missense_Mutation_p.P106S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 451 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAGCTGGCGCCCACCTGCAGA 0.498000 7 52 0 0 0.001984 0 0 MB21D2 151963 broad.mit.edu 37 3 192517384 192517384 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:192517384G>A ENST00000392452.2 - 2 587 c.267C>T c.(265-267)ctC>ctT p.L89L NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 89 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 CACCTCCAGAGAGCAACAGGT 0.463000 6 28 0 0 0.001984 0 0 OR1C1 26188 broad.mit.edu 37 1 247921004 247921004 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:247921004C>T ENST00000408896.2 - 1 978 c.705G>A c.(703-705)caG>caA p.Q235Q NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAACAGCTCTCTGCTTGCCCT 0.522000 7 27 0 0 0.004482 0 0 SNHG14 104472715 broad.mit.edu 37 15 25448439 25448439 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:25448439G>A ENST00000424208.1 + 0 2163 SNHG14_ENST00000424333.1_RNA|SNORD115-18_ENST00000363293.1_RNA NR_003305.1 ATTCTCAAAAGGATTATGCTG 0.507000 22 86 0 0 0.014323 0 0 KCNK5 8645 broad.mit.edu 37 6 39159415 39159415 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:39159415C>T ENST00000359534.3 - 5 1089 c.751G>A c.(751-753)Gaa>Aaa p.E251K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 251 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TTGTGGACTTCCACAAACATG 0.587000 11 83 0 0 0.010729 0 0 SCAF8 22828 broad.mit.edu 37 6 155153768 155153768 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:155153768C>T ENST00000367178.3 + 20 3631 c.3055C>T c.(3055-3057)Cct>Tct p.P1019S SCAF8_ENST00000417268.1_Missense_Mutation_p.P1019S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P1085S NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1019 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TTACCGGTTTCCTCCTATAGA 0.468000 13 38 0 0 0.016723 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028035 170028035 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:170028035G>A ENST00000284637.9 - 11 2802 c.2461C>T c.(2461-2463)Cct>Tct p.P821S NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 821 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TTCAAGACAGGACCCAGGGAG 0.502000 9 62 0 0 0.004482 0 0 GPR98 84059 broad.mit.edu 37 5 90040865 90040865 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:90040865C>T ENST00000405460.2 + 51 10648 c.10552C>T c.(10552-10554)Cac>Tac p.H3518Y NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3518 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCTGCAGCCCACATACTTCT 0.413000 21 173 0 0 0.016522 0 0 NR3C2 4306 broad.mit.edu 37 4 149002580 149002580 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:149002580G>T ENST00000355292.3 - 9 3244 c.2882C>A c.(2881-2883)cCc>cAc p.P961H NR3C2_ENST00000344721.4_Missense_Mutation_p.P957H|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.P957H|NR3C2_ENST00000512865.1_Missense_Mutation_p.P840H|NR3C2_ENST00000511528.1_Missense_Mutation_p.P961H P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 957 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CAGCATTGCGGGGAACTCTAC 0.602000 9 16 1.12685e-05 1.22929e-05 0.004482 1 0 LAMB3 3914 broad.mit.edu 37 1 209805940 209805940 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:209805940G>A ENST00000391911.1 - 7 1199 c.810C>T c.(808-810)tcC>tcT p.S270S LAMB3_ENST00000367030.3_Silent_p.S270S|LAMB3_ENST00000356082.4_Silent_p.S270S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 270 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCACAGCGGTGGAGGGGCCTG 0.632000 15 52 0 0 0.004990 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276318 15276318 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:15276318G>A ENST00000263388.2 - 31 5751 c.5676C>T c.(5674-5676)atC>atT p.I1892I NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1892 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGCGGTTTCGGATGAGAATCT 0.587000 4 24 0 0 0.014758 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303974 151303974 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:151303974G>A ENST00000370323.4 - 4 435 c.119C>T c.(118-120)tCa>tTa p.S40L MAGEA10_ENST00000244096.3_Missense_Mutation_p.S40L|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 40 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGTGGATGATGAAGCATC 0.562000 10 39 0 0 0.006214 0 0 CXCR2 3579 broad.mit.edu 37 2 219000288 219000288 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:219000288C>T ENST00000318507.2 + 3 1191 c.764C>T c.(763-765)gCt>gTt p.A255V NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 255 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GTCATCTTTGCTGTCGTCCTC 0.597000 35 111 0 0 0.023175 0 0 MYH4 4622 broad.mit.edu 37 17 10350414 10350414 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:10350414G>A ENST00000255381.2 - 35 5195 c.5085C>T c.(5083-5085)tcC>tcT p.S1695S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1695 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCCGTTCCAGGGATGCCCTGA 0.517000 9 39 0 0 0.008291 0 0 CUL3 8452 broad.mit.edu 37 2 225367750 225367750 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:225367750T>A ENST00000264414.4 - 10 1755 c.1417A>T c.(1417-1419)Atg>Ttg p.M473L CUL3_ENST00000409777.1_Missense_Mutation_p.M449L|CUL3_ENST00000344951.4_Missense_Mutation_p.M407L|CUL3_ENST00000409096.1_Missense_Mutation_p.M449L NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 473 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCCCTAAACATTCCTTCCAGT 0.368000 37 130 0 0 0.027894 0 0 ELTD1 64123 broad.mit.edu 37 1 79392696 79392696 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:79392696G>A ENST00000370742.3 - 8 1021 c.958C>T c.(958-960)Caa>Taa p.Q320* NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 320 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCATAATTTTGAGGTTTCAAT 0.318000 4 30 0 0 0.009096 0 0 DNAH17 8632 broad.mit.edu 37 17 76525710 76525710 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:76525710C>T ENST00000389840.5 - 22 3475 c.3351G>A c.(3349-3351)ggG>ggA p.G1117G DNAH17_ENST00000585328.1_Silent_p.G1114G dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CATCATAGTCCCCCTCCTTGA 0.567000 9 42 0 0 0.008291 0 0 STARD7 56910 broad.mit.edu 37 2 96852638 96852638 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:96852638G>A ENST00000337288.5 - 8 1326 c.943C>T c.(943-945)Ctg>Ttg p.L315L STARD7_ENST00000462501.1_5'UTR NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 315 START. mitochondrion endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 AGCTTCTCCAGGAAATCTGGC 0.443000 11 34 0 0 0.013537 0 0 LY75 4065 broad.mit.edu 37 2 160755202 160755202 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:160755202G>A ENST00000263636.4 - 2 490 c.463C>T c.(463-465)Cat>Tat p.H155Y LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H155Y|LY75_ENST00000553424.1_Missense_Mutation_p.H155Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H155Y|LY75_ENST00000554112.1_Missense_Mutation_p.H155Y NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TACTCACCATGATAAGGCTGG 0.448000 11 55 0 0 0.024245 0 0 ERF 2077 broad.mit.edu 37 19 42753161 42753161 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:42753161G>A ENST00000222329.4 - 4 1260 c.1103C>T c.(1102-1104)tCt>tTt p.S368F ERF_ENST00000440177.2_Missense_Mutation_p.S293F|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 368 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) AGAAGAAGAAGAGGATGACGA 0.687000 15 77 0 0 0.028581 0 0 OR5L2 26338 broad.mit.edu 37 11 55594880 55594880 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55594880C>T ENST00000378397.1 + 1 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCACT 0.463000 HNSCC(27;0.073) 29 126 0 0 0.009535 0 0 AURKC 6795 broad.mit.edu 37 19 57743987 57743987 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:57743987G>A ENST00000302804.7 + 4 560 c.374G>A c.(373-375)aGg>aAg p.R125K AURKC_ENST00000599062.1_Missense_Mutation_p.R122K|AURKC_ENST00000598785.1_Missense_Mutation_p.R91K|AURKC_ENST00000415300.2_Missense_Mutation_p.R106K|AURKC_ENST00000448930.1_Missense_Mutation_p.R91K NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 125 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TATGCTCCAAGGGGTGAGCTC 0.512000 15 57 0 0 0.024245 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735767 55735767 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55735767G>A ENST00000312345.2 - 1 223 c.173C>T c.(172-174)tCc>tTc p.S58F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S58F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TTCCAAAAGGGAAAAATTGCT 0.348000 13 32 0 0 0.028581 0 0 DOCK10 55619 broad.mit.edu 37 2 225729274 225729274 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:225729274T>A ENST00000409592.3 - 13 1693 c.1580A>T c.(1579-1581)aAc>aTc p.N527I DOCK10_ENST00000258390.7_Missense_Mutation_p.N533I Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 533 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CATTACCTTGTTGGAGTCTGG 0.393000 5 15 0 0 0.014758 0 0 CIT 11113 broad.mit.edu 37 12 120222828 120222828 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:120222828G>A ENST00000392521.2 - 11 1392 c.1337C>T c.(1336-1338)tCc>tTc p.S446F CIT_ENST00000261833.7_Missense_Mutation_p.S446F NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 446 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTTTTCCATGGAGCTAGTCTT 0.507000 13 21 0 0 0.013537 0 0 MKI67 4288 broad.mit.edu 37 10 129903322 129903322 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:129903322G>A ENST00000368654.3 - 13 7157 c.6782C>T c.(6781-6783)tCa>tTa p.S2261L MKI67_ENST00000368653.3_Missense_Mutation_p.S1901L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2261 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTCCCTACTGATGGTGTTCG 0.488000 32 106 0 0 0.008361 0 0 OR10G7 390265 broad.mit.edu 37 11 123909160 123909160 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123909160G>A ENST00000330487.5 - 1 557 c.549C>T c.(547-549)atC>atT p.I183I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCAGTTTCAGGATGGGCGGTG 0.537000 8 162 0 0 0.028581 0 0 KRT82 3888 broad.mit.edu 37 12 52799828 52799828 + Silent SNP G G A rs142775418 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:52799828G>A ENST00000257974.2 - 1 311 c.234C>T c.(232-234)ttC>ttT p.F78F NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 78 Head. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GTCGGTACCCGAAGCCAGGCA 0.652000 6 26 0 0 0.021553 0 0 HCN1 348980 broad.mit.edu 37 5 45267205 45267205 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:45267205C>T ENST00000303230.4 - 7 1826 c.1769G>A c.(1768-1770)cGa>cAa p.R590Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 590 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 TCGATCTAGTCGGTCAATGGC 0.398000 13 37 0 0 0.028581 0 0 ZNF431 170959 broad.mit.edu 37 19 21365844 21365844 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:21365844C>T ENST00000311048.7 + 5 882 c.738C>T c.(736-738)acC>acT p.T246T ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GGTTCTCAACCCTTACTAGAC 0.358000 4 19 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152674513 152674513 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:152674513G>A ENST00000367255.5 - 69 11739 c.11138C>T c.(11137-11139)tCc>tTc p.S3713F SYNE1_ENST00000448038.1_Missense_Mutation_p.S3698F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3684F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3698F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3713F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3713 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGAACTGAGGGATGATTCTGA 0.378000 HNSCC(10;0.0054) 16 42 0 0 0.006122 0 0 SPAG11B 10407 broad.mit.edu 37 8 7308672 7308672 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:7308672C>T ENST00000297498.2 - 3 430 c.264G>A c.(262-264)gtG>gtA p.V88V SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000528168.1_Silent_p.V35V|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron NM_016512.3 NP_057596.1 Q08648 SG11B_HUMAN sperm associated antigen 11B 88 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CTAAAAAGTCCACACAGATCC 0.443000 10 47 0 0 0.013537 0 0 BATF 10538 broad.mit.edu 37 14 76012890 76012890 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:76012890T>G ENST00000286639.6 + 3 512 c.254T>G c.(253-255)gTg>gGg p.V85G BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR NM_006399.3 NP_006390.1 Q16520 BATF_HUMAN basic leucine zipper transcription factor, ATF-like 85 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.028) TTCACGTCGGTGCTGAACAGC 0.622000 5 12 0 0 0.014758 0 0 BMP5 653 broad.mit.edu 37 6 55638912 55638912 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:55638912C>T ENST00000370830.3 - 4 1660 c.962G>A c.(961-963)cGa>cAa p.R321Q BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 321 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R321Q(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGATTTTTTCGTTTGTTGGC 0.478000 14 64 0 0 0.024245 0 0 OR2W3 343171 broad.mit.edu 37 1 248058987 248058987 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248058987C>T ENST00000537741.1 + 3 356 c.99C>T c.(97-99)atC>atT p.I33I OR2W3_ENST00000360358.3_Silent_p.I33I Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCATCCTGATCGCGTACCTCC 0.567000 20 66 0 0 0.008871 0 0 AADACL4 343066 broad.mit.edu 37 1 12711285 12711285 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:12711285G>A ENST00000376221.1 + 2 312 c.312G>A c.(310-312)ccG>ccA p.P104P NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 104 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGTTCCAGCCGAAGGCAGCAT 0.532000 19 28 0 0 0.012319 0 0 CLPS 1208 broad.mit.edu 37 6 35762990 35762990 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:35762990G>A ENST00000259938.2 - 3 294 c.272C>T c.(271-273)aCc>aTc p.T91I NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 91 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GCCCACGATGGTCTTGTCTCC 0.567000 12 32 0 0 0.013537 0 0 GPR158 57512 broad.mit.edu 37 10 25878032 25878032 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:25878032T>C ENST00000376351.3 + 8 2209 c.1850T>C c.(1849-1851)gTt>gCt p.V617A NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 617 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCTGTTGCAGTTCACAATGAG 0.413000 5 22 0 0 0.021553 0 0 CD86 942 broad.mit.edu 37 3 121838366 121838366 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:121838366T>G ENST00000330540.2 + 7 1091 c.975T>G c.(973-975)agT>agG p.S325R CD86_ENST00000493101.1_Missense_Mutation_p.S213R|CD86_ENST00000469710.1_Missense_Mutation_p.S243R|CD86_ENST00000393627.2_Missense_Mutation_p.S319R|CD86_ENST00000264468.5_Missense_Mutation_p.S112R NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 325 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GCGACAAAAGTGATACATGTT 0.343000 11 15 0 0 0.016723 0 0 TRPV5 56302 broad.mit.edu 37 7 142612534 142612534 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:142612534A>G ENST00000265310.1 - 10 1577 c.1229T>C c.(1228-1230)gTt>gCt p.V410A NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 410 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AGAGGCACCAACCCTGAAGAT 0.517000 17 57 0 0 0.006122 0 0 MED25 81857 broad.mit.edu 37 19 50333462 50333462 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:50333462C>T ENST00000312865.6 + 7 859 c.806C>T c.(805-807)cCc>cTc p.P269L MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 269 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CCCCCCGTCCCCCCGCAGTAC 0.652000 3 13 0 0 0.004672 0 0 ZAN 7455 broad.mit.edu 37 7 100350500 100350500 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:100350500G>A ENST00000542585.1 + 0 2920 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCATCCCCACGGAAAAACCCA 0.502000 8 26 0 0 0.003080 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22853802 22853802 + Silent SNP C C T rs149365181 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:22853802C>T ENST00000283645.4 + 12 1570 c.1440C>T c.(1438-1440)atC>atT p.I480I TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.I480I NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 480 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.I480I(1) breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ACGAGTGGATCGTGCACGGGC 0.607000 4 18 0 0 0.009096 0 0 IGDCC3 9543 broad.mit.edu 37 15 65627726 65627726 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:65627726G>A ENST00000327987.4 - 4 839 c.588C>T c.(586-588)atC>atT p.I196I NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 196 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GAAGTCCTGTGATCTGCAGGA 0.572000 16 54 0 0 0.004990 0 0 ATP7B 540 broad.mit.edu 37 13 52534368 52534368 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:52534368G>A ENST00000242839.4 - 7 2193 c.2037C>T c.(2035-2037)caC>caT p.H679H ATP7B_ENST00000400366.3_Silent_p.H568H|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Silent_p.H679H|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Silent_p.H679H NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 679 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCATGGACTGGTGGGGCTCGT 0.463000 Wilson disease 9 36 0 0 0.004482 0 0 PMEL 6490 broad.mit.edu 37 12 56349608 56349608 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:56349608G>A ENST00000548747.1 - 8 2173 c.1511C>T c.(1510-1512)tCc>tTc p.S504F PMEL_ENST00000552882.1_Missense_Mutation_p.S504F|PMEL_ENST00000536427.1_Missense_Mutation_p.S462F|PMEL_ENST00000449260.2_Missense_Mutation_p.S504F|PMEL_ENST00000550447.1_Missense_Mutation_p.S133F|PMEL_ENST00000548493.1_Missense_Mutation_p.S504F|PMEL_ENST00000539511.1_Missense_Mutation_p.S418F|PMEL_ENST00000550464.1_Missense_Mutation_p.S418F|PMEL_ENST00000360714.4_Missense_Mutation_p.S504F P40967 PMEL_HUMAN premelanosome protein 504 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCCCTCACCGGACGGCACAGC 0.537000 OREG0021914 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 27 0 0 0.006214 0 0 OR4C3 256144 broad.mit.edu 37 11 48347004 48347004 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:48347004G>A ENST00000319856.4 + 1 533 c.512G>A c.(511-513)gGg>gAg p.G171E NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ATGCTTGTAGGGGTGGCTTGG 0.527000 16 55 0 0 0.024245 0 0 DOCK10 55619 broad.mit.edu 37 2 225739407 225739407 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:225739407G>A ENST00000409592.3 - 9 1088 c.975C>T c.(973-975)aaC>aaT p.N325N DOCK10_ENST00000258390.7_Silent_p.N331N Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 331 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CGTGTAGGTTGTTCTCTGAAG 0.338000 11 76 0 0 0.016723 0 0 ACKR2 1238 broad.mit.edu 37 3 42906654 42906654 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:42906654C>T ENST00000422265.1 + 3 835 c.660C>T c.(658-660)ctC>ctT p.L220L ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.L220L|ACKR2_ENST00000442925.1_Silent_p.L220L|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TAGGGTTTCTCCTTCCACTCC 0.552000 20 87 0 0 0.010504 0 0 HGD 3081 broad.mit.edu 37 3 120357375 120357375 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:120357375G>A ENST00000283871.5 - 12 1392 c.933C>T c.(931-933)gcC>gcT p.A311A NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 311 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) AATCAGCAATGGCCACTCCAG 0.483000 4 76 0 0 0.009096 0 0 IL17A 3605 broad.mit.edu 37 6 52052502 52052502 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:52052502G>A ENST00000340057.1 + 2 174 c.129G>A c.(127-129)cgG>cgA p.R43R NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 43 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ACTTCCCCCGGACTGTGATGG 0.502000 29 100 0 0 0.006320 0 0 AC096579.13 0 broad.mit.edu 37 2 89160052 89160052 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:89160052C>T ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA ACCCAAATTTCAGAAGACAAT 0.383000 5 23 0 0 0.014758 0 0 ZNF709 163051 broad.mit.edu 37 19 12576106 12576106 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:12576106G>A ENST00000397732.3 - 4 801 c.630C>T c.(628-630)acC>acT p.T210T ZNF709_ENST00000428311.1_Silent_p.T210T|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GTCCTCGAAAGGTTGTGTGAT 0.408000 15 45 0 0 0.024245 0 0 ZNF254 9534 broad.mit.edu 37 19 24309748 24309748 + Missense_Mutation SNP C C T rs146986501 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:24309748C>T ENST00000357002.4 + 4 1061 c.946C>T c.(946-948)Cat>Tat p.H316Y ZNF254_ENST00000342944.6_Missense_Mutation_p.H231Y NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 316 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TAAGAAAATTCATACTAGAAA 0.383000 4 17 0 0 0.009096 0 0 L1CAM 3897 broad.mit.edu 37 X 153136579 153136579 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:153136579C>T ENST00000370060.1 - 6 645 c.456G>A c.(454-456)gaG>gaA p.E152E L1CAM_ENST00000361699.4_Silent_p.E152E|L1CAM_ENST00000543994.1_Silent_p.E154E|L1CAM_ENST00000370057.3_Silent_p.E152E|L1CAM_ENST00000538883.1_Silent_p.E154E|L1CAM_ENST00000361981.3_Silent_p.E147E|L1CAM_ENST00000370055.1_Silent_p.E147E NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 152 Ig-like C2-type 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAACCACTGACTCCCCTTCCT 0.632000 12 35 0 0 0.013537 0 0 DCTD 1635 broad.mit.edu 37 4 183812630 183812630 + Splice_Site SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:183812630C>T ENST00000438320.2 - 6 749 c.458_splice c.e6-1 p.R153_splice DCTD_ENST00000510370.1_Splice_Site_p.R153_splice|DCTD_ENST00000357067.3_Splice_Site_p.R164_splice NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 153 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) GTATGAATTTCCTAAAAATAA 0.328000 12 55 0 0 0.010729 0 0 EVX2 344191 broad.mit.edu 37 2 176948384 176948384 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:176948384C>T ENST00000308618.4 - 1 257 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 41 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TGCGAATTTTCCAGGGCCTCG 0.602000 17 39 0 0 0.004990 0 0 VPS13C 54832 broad.mit.edu 37 15 62214711 62214711 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:62214711A>G ENST00000261517.5 - 54 6933 c.6860T>C c.(6859-6861)tTa>tCa p.L2287S VPS13C_ENST00000395898.3_Missense_Mutation_p.L2244S|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2244S|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2287S NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2287 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 GCCACATTCTAAGGTAACTTG 0.383000 14 74 0 0 0.028581 0 0 CCDC147 159686 broad.mit.edu 37 10 106128220 106128220 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:106128220C>T ENST00000369704.3 + 6 966 c.832C>T c.(832-834)Cag>Tag p.Q278* CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 278 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CGAGCAATTTCAGATGAGAAA 0.408000 8 21 0 0 0.003080 0 0 GPR83 10888 broad.mit.edu 37 11 94129668 94129668 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:94129668C>T ENST00000243673.2 - 2 581 c.410G>A c.(409-411)tGg>tAg p.W137* GPR83_ENST00000539203.2_Intron NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 137 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCCAAATATCCATGTGCTGTT 0.542000 12 26 0 0 0.016723 0 0 ANK3 288 broad.mit.edu 37 10 61956324 61956324 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:61956324G>A ENST00000280772.1 - 15 1940 c.1749C>T c.(1747-1749)ctC>ctT p.L583L ANK3_ENST00000373827.2_Silent_p.L577L|ANK3_ENST00000503366.1_Silent_p.L566L NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 583 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCTGTAGCAGGAGATTGGCGA 0.418000 11 37 0 0 0.020292 0 0 ZNF813 126017 broad.mit.edu 37 19 53994798 53994798 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:53994798C>T ENST00000396403.4 + 4 1440 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TGGAGAGAAACCCTACAAGTG 0.393000 9 27 0 0 0.006214 0 0 HRH1 3269 broad.mit.edu 37 3 11301561 11301561 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:11301561C>T ENST00000397056.1 + 3 1029 c.838C>T c.(838-840)Ccc>Tcc p.P280S HRH1_ENST00000431010.2_Missense_Mutation_p.P280S|HRH1_ENST00000438284.2_Missense_Mutation_p.P280S NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 280 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) ATCCCAAACCCCCAAGGAGAT 0.493000 6 43 0 0 0.003080 0 0 GRIK1 2897 broad.mit.edu 37 21 30961298 30961298 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:30961298C>T ENST00000399914.1 - 10 1906 c.1385G>A c.(1384-1386)gGa>gAa p.G462E GRIK1_ENST00000389124.2_Missense_Mutation_p.G477E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G479E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G462E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G477E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G479E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G477E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G477E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G462E P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 477 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TAGGCAATATCCTTCAAATCT 0.363000 18 55 0 0 0.007413 0 0 GBP7 388646 broad.mit.edu 37 1 89613373 89613373 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:89613373T>C ENST00000294671.2 - 8 1380 c.1242A>G c.(1240-1242)tcA>tcG p.S414S NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 414 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TCAAGAGCTCTGAAAGCCGCT 0.428000 21 108 0 0 0.010504 0 0 C12orf40 283461 broad.mit.edu 37 12 40078685 40078685 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:40078685G>A ENST00000324616.5 + 10 1457 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K C12orf40_ENST00000405531.3_Missense_Mutation_p.E435K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 435 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TATACCTTCGGAAGAATTGCA 0.368000 5 21 0 0 0.021553 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30164947 30164947 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:30164947C>T ENST00000436066.3 + 2 667 c.201C>T c.(199-201)atC>atT p.I67I PLEKHF1_ENST00000592810.1_Silent_p.I67I NM_024310.4 NP_077286.3 Q96S99 PKHF1_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 1 67 PH. apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|lung(3)|ovary(1)|prostate(1) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) ATGGCAGCATCGTGCTCAACA 0.602000 8 42 0 0 0.003080 0 0 GSG1 83445 broad.mit.edu 37 12 13241730 13241730 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:13241730C>T ENST00000396302.3 - 3 637 c.439G>A c.(439-441)Ggg>Agg p.G147R GSG1_ENST00000396310.2_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.G183R|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000324458.8_Intron NM_031289.3 NP_112579.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 0 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AACCGCTTCCCTCCAAATCGG 0.498000 9 22 0 0 0.004482 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882871 228882871 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:228882871T>C ENST00000392056.3 - 7 2745 c.2699A>G c.(2698-2700)aAc>aGc p.N900S SPHKAP_ENST00000344657.5_Missense_Mutation_p.N900S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 900 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAAGGACAGGTTGACTTGAAC 0.483000 26 110 0 0 0.021523 0 0 CXCR2 3579 broad.mit.edu 37 2 219000042 219000042 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:219000042C>T ENST00000318507.2 + 3 945 c.518C>T c.(517-519)tCc>tTc p.S173F NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 173 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TGGGGTCTGTCCTTGCTCCTG 0.522000 6 30 0 0 0.003080 0 0 DDX20 11218 broad.mit.edu 37 1 112309250 112309250 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:112309250G>A ENST00000475700.1 + 3 3386 c.1028G>A c.(1027-1029)cGg>cAg p.R343Q DDX20_ENST00000369702.4_Missense_Mutation_p.R735Q Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 735 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGCAGAGCCGGAGAAACCTA 0.478000 6 22 0 0 0.021553 0 0 PLXNA4 91584 broad.mit.edu 37 7 131831317 131831317 + Silent SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:131831317C>A ENST00000359827.3 - 28 5969 c.5007G>T c.(5005-5007)ggG>ggT p.G1669G PLXNA4_ENST00000321063.4_Silent_p.G1669G Q9HCM2 PLXA4_HUMAN plexin A4 1669 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCATCTTGCTCCCCCGGTCCC 0.572000 7 201 1.12685e-05 1.22929e-05 0.004482 1 0 GPR50 9248 broad.mit.edu 37 X 150345310 150345310 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:150345310C>T ENST00000218316.3 + 1 186 c.117C>T c.(115-117)atC>atT p.I39I GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 39 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TTATCACCATCGTTGTAGACC 0.512000 27 103 0 0 0.007291 0 0 INTS1 26173 broad.mit.edu 37 7 1527398 1527398 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:1527398G>A ENST00000389470.4 - 20 2897 c.2898C>T c.(2896-2898)ccC>ccT p.P966P INTS1_ENST00000404767.3_Silent_p.P838P Q8N201 INT1_HUMAN integrator complex subunit 1 838 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTGCGTACTGGGGGTCCAGGC 0.692000 6 13 0 0 0.003080 0 0 PARP15 165631 broad.mit.edu 37 3 122353928 122353928 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:122353928A>T ENST00000483793.1 + 8 1089 c.1049A>T c.(1048-1050)gAt>gTt p.D350V PARP15_ENST00000493645.1_Missense_Mutation_p.D242V|PARP15_ENST00000464300.2_Missense_Mutation_p.D545V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.D311V Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 523 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) AGGCAAATGGATATCAAGAAT 0.403000 5 30 0 0 0.014758 0 0 SLIT2 9353 broad.mit.edu 37 4 20620555 20620555 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:20620555G>A ENST00000504154.1 + 37 4765 c.4513G>A c.(4513-4515)Gaa>Aaa p.E1505K SLIT2_ENST00000503837.1_Missense_Mutation_p.E1501K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1518K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1497K NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1505 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATACTCTTTCGAATGCACTGA 0.562000 11 25 0 0 0.010729 0 0 IDUA 3425 broad.mit.edu 37 4 998111 998111 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:998111C>T ENST00000453894.1 + 11 2046 c.1958C>T c.(1957-1959)cCc>cTc p.P653L IDUA_ENST00000514224.1_Missense_Mutation_p.P499L|IDUA_ENST00000247933.4_Missense_Mutation_p.P631L P35475 IDUA_HUMAN iduronidase, alpha-L- 631 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CGACCAGGCCCCTTCTCGGAC 0.647000 4 32 0 0 0.014758 0 0 COLEC12 81035 broad.mit.edu 37 18 346919 346919 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:346919G>A ENST00000400256.3 - 5 910 c.703C>T c.(703-705)Cag>Tag p.Q235* NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 235 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TTGATTCGCTGGATAGCCTGG 0.507000 6 71 0 0 0.003080 0 0 KCNK5 8645 broad.mit.edu 37 6 39159374 39159374 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:39159374C>T ENST00000359534.3 - 5 1130 c.792G>A c.(790-792)aaG>aaA p.K264K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 264 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CAAAGGACTCCTTCCGTCGCC 0.562000 18 104 0 0 0.006122 0 0 ELAC2 60528 broad.mit.edu 37 17 12901793 12901793 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:12901793G>A ENST00000338034.4 - 16 1695 c.1456C>T c.(1456-1458)Ctt>Ttt p.L486F ELAC2_ENST00000395962.2_Missense_Mutation_p.L467F|ELAC2_ENST00000426905.3_Missense_Mutation_p.L446F NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 486 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCTGTTCCAAGGAAGATGATT 0.453000 7 43 0 0 0.001984 0 0 PCDH1 5097 broad.mit.edu 37 5 141243308 141243308 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:141243308G>A ENST00000287008.3 - 3 2735 c.2588C>T c.(2587-2589)gCc>gTc p.A863V PCDH1_ENST00000394536.3_Missense_Mutation_p.A863V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A851V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.A841V|PCDH1_ENST00000511044.1_5'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 863 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CAAGGCCACGGCCACCACACC 0.582000 28 172 0 0 0.009535 0 0 RYR1 6261 broad.mit.edu 37 19 38991599 38991599 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:38991599C>T ENST00000355481.4 + 47 7714 c.7583C>T c.(7582-7584)cCc>cTc p.P2528L RYR1_ENST00000360985.3_Missense_Mutation_p.P2528L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2528L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2528 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGTTCCTGCCCGACATGAGG 0.642000 5 29 0 0 0.021553 0 0 GPR116 221395 broad.mit.edu 37 6 46874426 46874426 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:46874426C>T ENST00000283296.7 - 2 362 c.74G>A c.(73-75)tGg>tAg p.W25* GPR116_ENST00000265417.7_Nonsense_Mutation_p.W25*|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000456426.2_Nonsense_Mutation_p.W25*|GPR116_ENST00000362015.4_Nonsense_Mutation_p.W25* NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 25 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTCGTAATTCCAGTTCAGTGC 0.378000 23 57 0 0 0.027356 0 0 TNXB 7148 broad.mit.edu 37 6 32037989 32037989 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:32037989C>T ENST00000375244.3 - 14 5394 c.5193G>A c.(5191-5193)ctG>ctA p.L1731L TNXB_ENST00000375247.2_Silent_p.L1731L P22105 TENX_HUMAN tenascin XB 1813 Fibronectin type-III 9. 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 GGCCGGCATCCAGAGGGGTGA 0.632000 23 115 0 0 0.018920 0 0 ERC2 26059 broad.mit.edu 37 3 56114943 56114943 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:56114943C>T ENST00000288221.6 - 7 1798 c.1543G>A c.(1543-1545)Gac>Aac p.D515N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 515 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCTGTGAGGTCCTGTAGCTGT 0.393000 4 23 0 0 0.014758 0 0 FOLH1 2346 broad.mit.edu 37 11 49170281 49170281 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:49170281G>A ENST00000340334.7 - 19 2296 c.1928C>T c.(1927-1929)cCa>cTa p.P643L FOLH1_ENST00000533034.1_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.P658L|FOLH1_ENST00000343844.4_Missense_Mutation_p.P350L|FOLH1_ENST00000356696.3_Intron NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 658 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TAATACTATTGGGCTGAGAAA 0.303000 5 19 0 0 0.014758 0 0 KIF3C 3797 broad.mit.edu 37 2 26174711 26174711 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:26174711G>A ENST00000264712.3 - 5 2532 c.1953C>T c.(1951-1953)ttC>ttT p.F651F KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Silent_p.F651F NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 651 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) CACAGTCCAGGAAAAGCCGGT 0.562000 5 43 0 0 0.014758 0 0 HYDIN 54768 broad.mit.edu 37 16 70954782 70954782 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:70954782C>T ENST00000393567.2 - 46 7647 c.7497G>A c.(7495-7497)caG>caA p.Q2499Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2499 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCAAGGGGACCTGGCGCTGGT 0.667000 5 10 0 0 0.014758 0 0 CD33 945 broad.mit.edu 37 19 51742850 51742850 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:51742850G>A ENST00000262262.4 + 7 1023 c.1002G>A c.(1000-1002)atG>atA p.M334I CD33_ENST00000421133.2_Missense_Mutation_p.M207I|CD33_ENST00000600557.1_3'UTR NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 334 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CTGTGGAGATGGATGAGGAGC 0.522000 12 45 0 0 0.013537 0 0 BAGE2 85319 broad.mit.edu 37 21 11039065 11039065 + RNA SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:11039065A>T ENST00000470054.1 - 0 1138 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) ATCCAGTAGAAAGTTCAGAAT 0.393000 7 281 0 0 0.003080 0 0 LAX1 54900 broad.mit.edu 37 1 203734697 203734697 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:203734697G>A ENST00000442561.2 + 1 394 c.4G>A c.(4-6)Gat>Aat p.D2N LAX1_ENST00000367217.5_Intron NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 2 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.D2N(1) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TGATACAATGGATGGTGTCAC 0.517000 8 25 0 0 0.006214 0 0 SLC13A2 9058 broad.mit.edu 37 17 26821090 26821090 + Missense_Mutation SNP C C T rs45546232 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:26821090C>T ENST00000444914.3 + 8 1720 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S SLC13A2_ENST00000314669.5_Missense_Mutation_p.P385S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.P314S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.P342S NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 385 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GTTCATCATACCCTCCAAGTT 0.602000 5 49 0 0 0.021553 0 0 ADAM29 11086 broad.mit.edu 37 4 175898164 175898164 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:175898164G>A ENST00000359240.3 + 5 2158 c.1488G>A c.(1486-1488)aaG>aaA p.K496K ADAM29_ENST00000404450.4_Silent_p.K496K|ADAM29_ENST00000445694.1_Silent_p.K496K|ADAM29_ENST00000514159.1_Silent_p.K496K NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 496 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GCTATGAAAAGAGCTGTCATG 0.458000 16 82 0 0 0.028581 0 0 YY1 7528 broad.mit.edu 37 14 100728746 100728746 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:100728746C>T ENST00000262238.4 + 2 1045 c.785C>T c.(784-786)cCt>cTt p.P262L NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 262 Involved in nuclear matrix association. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AAACTTCCTCCTGGAGGAATA 0.378000 9 53 0 0 0.004482 0 0 PDZD4 57595 broad.mit.edu 37 X 153069974 153069974 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:153069974C>T ENST00000164640.4 - 8 1335 c.1144G>A c.(1144-1146)Gga>Aga p.G382R PDZD4_ENST00000544474.1_Missense_Mutation_p.G273R|PDZD4_ENST00000393758.2_Missense_Mutation_p.G307R NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 382 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGTTGCCTCCGGAGGCCCGG 0.627000 7 35 0 0 0.003080 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057913 63057913 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:63057913C>T ENST00000332793.6 + 1 278 c.276C>T c.(274-276)gtC>gtT p.V92V SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.V40V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 92 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTCGCTTTGTCCATCCCCAGT 0.493000 15 58 0 0 0.024245 0 0 SGPP2 130367 broad.mit.edu 37 2 223389666 223389666 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:223389666C>T ENST00000321276.7 + 4 648 c.562C>T c.(562-564)Cca>Tca p.P188S NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 188 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) CCCACAGTATCCATTTGTGTT 0.458000 7 27 0 0 0.003080 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810674 65810674 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:65810674G>A ENST00000312006.4 - 3 881 c.600C>T c.(598-600)ttC>ttT p.F200F GAL3ST3_ENST00000527878.1_Silent_p.F200F NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 200 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TGTTGTGTGCGAACATGGCGA 0.706000 12 44 0 0 0.016723 0 0 DENND3 22898 broad.mit.edu 37 8 142200413 142200413 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:142200413G>A ENST00000519811.1 + 20 3346 c.3276G>A c.(3274-3276)atG>atA p.M1092I DENND3_ENST00000262585.2_Missense_Mutation_p.M1012I|DENND3_ENST00000424248.1_Missense_Mutation_p.M960I|DENND3_ENST00000523308.1_Missense_Mutation_p.M62I A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1012 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACGGCATGGTGCTGGTGT 0.587000 15 48 0 0 0.028581 0 0 LRP1B 53353 broad.mit.edu 37 2 140990796 140990796 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:140990796G>A ENST00000389484.3 - 91 14730 c.13759C>T c.(13759-13761)Cca>Tca p.P4587S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4587 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) ATTTTCTTTGGAAGCAGTTCT 0.323000 TSP Lung(27;0.18) 5 20 0 0 0.021553 0 0 KLHL4 56062 broad.mit.edu 37 X 86921475 86921475 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:86921475G>A ENST00000373119.4 + 11 2243 c.2097_splice c.e11-1 p.E700_splice KLHL4_ENST00000373114.4_Intron NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 700 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGTGTTTTAGGAAGTTCCTGT 0.303000 8 40 0 0 0.006214 0 0 ADAM18 8749 broad.mit.edu 37 8 39581281 39581281 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:39581281G>A ENST00000265707.5 + 19 2077 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K ADAM18_ENST00000379866.1_Missense_Mutation_p.E654K|ADAM18_ENST00000541111.1_Missense_Mutation_p.E92K|ADAM18_ENST00000523755.1_3'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 678 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CTTTTATACTGAAAAAGGCTA 0.299000 12 42 0 0 0.020292 0 0 YBX1 4904 broad.mit.edu 37 1 43166637 43166637 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:43166637C>T ENST00000321358.7 + 7 1065 c.926C>T c.(925-927)cCa>cTa p.P309L NM_004559.3 NP_004550.2 P67809 YBOX1_HUMAN Y box binding protein 1 309 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2) 16 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCGATCCACCAGCTGAGAAT 0.567000 8 19 0 0 0.006214 0 0 OR2A12 346525 broad.mit.edu 37 7 143792314 143792314 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:143792314G>A ENST00000408949.2 + 1 174 c.114G>A c.(112-114)ctG>ctA p.L38L NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GCTTAACCCTGATGGGAAATG 0.493000 10 42 0 0 0.006214 0 0 ACOT1 641371 broad.mit.edu 37 14 74009759 74009759 + Silent SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:74009759A>G ENST00000311148.4 + 3 974 c.666A>G c.(664-666)aaA>aaG p.K222K HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Intron|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000334988.2_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CTCAGGTAAAAGGTCCAGGAG 0.502000 3 38 0 0 0.009096 0 0 NAALAD2 10003 broad.mit.edu 37 11 89896164 89896164 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:89896164A>G ENST00000534061.1 + 9 1267 c.1037A>G c.(1036-1038)tAc>tGc p.Y346C NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y313C|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 346 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACAAGGATTTACAATGTAGTT 0.264000 4 70 0 0 0.009096 0 0 FOXO4 4303 broad.mit.edu 37 X 70316611 70316611 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:70316611G>A ENST00000374259.3 + 1 565 c.233G>A c.(232-234)gGg>gAg p.G78E FOXO4_ENST00000466874.1_Intron|FOXO4_ENST00000341558.3_Intron NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 78 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) GAGCCGGCCGGGGGCCCCCAG 0.662000 3 8 0 0 0.004672 0 0 BUB1 699 broad.mit.edu 37 2 111399362 111399362 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:111399362G>A ENST00000535254.1 - 20 2489 c.2422C>T c.(2422-2424)Ccc>Tcc p.P808S BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Missense_Mutation_p.P828S|BUB1_ENST00000409311.1_Missense_Mutation_p.P828S NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 828 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AATTCCCAGGGGTTGGCAGGC 0.403000 33 90 0 0 0.019004 0 0 PDCD11 22984 broad.mit.edu 37 10 105185072 105185072 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:105185072C>T ENST00000369797.3 + 20 3189 c.3095C>T c.(3094-3096)aCc>aTc p.T1032I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1032 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AAGAAGCACACCCTCTCCATC 0.522000 14 42 0 0 0.024245 0 0 PAXIP1 22976 broad.mit.edu 37 7 154790397 154790397 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:154790397C>T ENST00000404141.1 - 2 333 c.179G>A c.(178-180)gGa>gAa p.G60E PAXIP1_ENST00000397192.1_Missense_Mutation_p.G60E|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 60 BRCT 1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CCGAGCTTCTCCCACCTCTGG 0.413000 3 14 0 0 0.004672 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630427 155630427 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:155630427G>A ENST00000368340.5 - 10 1736 c.1628C>T c.(1627-1629)cCc>cTc p.P543L YY1AP1_ENST00000404643.1_Missense_Mutation_p.P405L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P394L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P425L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P271L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P563L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P414L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P414L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P471L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P425L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P425L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P394L|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GTTGAAGCTGGGCTGGAGAGA 0.557000 26 89 0 0 0.027356 0 0 APBA1 320 broad.mit.edu 37 9 72067068 72067068 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:72067068G>A ENST00000265381.4 - 9 2160 c.1938C>T c.(1936-1938)atC>atT p.I646I NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 646 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGGAGAAGTGGATCAGGTCAT 0.522000 23 68 0 0 0.021523 0 0 ICAM5 7087 broad.mit.edu 37 19 10402719 10402719 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:10402719C>T ENST00000221980.4 + 4 745 c.682C>T c.(682-684)Ccg>Tcg p.P228S NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 228 Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) AGCCCTGTCTCCGGATGCCCC 0.562000 6 35 0 0 0.003080 0 0 MAGI2 9863 broad.mit.edu 37 7 78256458 78256458 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:78256458G>A ENST00000354212.4 - 3 769 c.516C>T c.(514-516)ctC>ctT p.L172L MAGI2_ENST00000419488.1_Silent_p.L172L|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000535697.1_Silent_p.L9L|MAGI2_ENST00000522391.1_Silent_p.L172L NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 172 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CACTTTCTAGGAGAGCACCAC 0.443000 4 22 0 0 0.021553 0 0 THSD7B 80731 broad.mit.edu 37 2 137814542 137814542 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:137814542C>T ENST00000409968.1 + 3 870 c.692C>T c.(691-693)tCc>tTc p.S231F THSD7B_ENST00000543459.1_Missense_Mutation_p.S90F|THSD7B_ENST00000413152.2_Missense_Mutation_p.S200F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S231F 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) GCTCCCATTTCCTGTCCTCTT 0.458000 27 125 0 0 0.006320 0 0 CHD6 84181 broad.mit.edu 37 20 40086061 40086061 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:40086061G>T ENST00000373233.3 - 18 2849 c.2672C>A c.(2671-2673)gCc>gAc p.A891D CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 891 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTGACATCGGGCCTGAGCCTG 0.512000 3 16 0.00909568 0.00983442 0.009096 1 0 TEX33 339669 broad.mit.edu 37 22 37398065 37398065 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:37398065G>A ENST00000405091.2 - 4 553 c.302C>T c.(301-303)tCc>tTc p.S101F TEX33_ENST00000402860.3_Missense_Mutation_p.S16F|TEX33_ENST00000381821.1_Missense_Mutation_p.S101F O43247 EAN57_HUMAN testis expressed 33 101 CTCTCTCGAGGAGGATCGAGA 0.652000 3 10 0 0 0.004672 0 0 C6 729 broad.mit.edu 37 5 41159253 41159253 + Missense_Mutation SNP C C T rs148521858 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:41159253C>T ENST00000263413.3 - 12 2051 c.1787G>A c.(1786-1788)cGa>cAa p.R596Q C6_ENST00000337836.5_Missense_Mutation_p.R596Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 596 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCCCTCCTCGTTGGGGGGC 0.502000 8 67 0 0 0.008291 0 0 DCTN1 1639 broad.mit.edu 37 2 74598271 74598271 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:74598271G>A ENST00000361874.3 - 9 995 c.678C>T c.(676-678)gaC>gaT p.D226D DCTN1_ENST00000394003.3_Silent_p.D219D|DCTN1_ENST00000409868.1_Silent_p.D209D|DCTN1_ENST00000407639.2_Silent_p.D92D|DCTN1_ENST00000409240.1_Silent_p.D189D|DCTN1_ENST00000409438.1_Silent_p.D92D|DCTN1_ENST00000409567.3_Silent_p.D206D NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 226 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 TCTCCTCCAGGTCCCGCACCT 0.572000 40 172 0 0 0.009718 0 0 HMCN1 83872 broad.mit.edu 37 1 186158759 186158759 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:186158759C>T ENST00000271588.4 + 107 16886 c.16657C>T c.(16657-16659)Cgg>Tgg p.R5553W HMCN1_ENST00000367492.2_Missense_Mutation_p.R5436W NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5553 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGATTTAATCCGGCTGGTTGC 0.468000 10 34 0 0 0.008291 0 0 PSG7 5676 broad.mit.edu 37 19 43429959 43429959 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:43429959C>T ENST00000446844.3 - 0 1298 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGGAGCTTTCCTTGCCAGTGG 0.468000 56 42 0 0 0.014410 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4491797 4491797 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:4491797C>T ENST00000301284.4 + 6 707 c.643C>T c.(643-645)Cca>Tca p.P215S HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P215S NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 215 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GGTCCGGGCGCCACGGAGGGG 0.627000 14 58 0 0 0.024245 0 0 RGS6 9628 broad.mit.edu 37 14 72926360 72926360 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:72926360G>A ENST00000553530.1 + 6 570 c.363G>A c.(361-363)tcG>tcA p.S121S RGS6_ENST00000556437.1_Silent_p.S121S|RGS6_ENST00000407322.4_Silent_p.S121S|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Silent_p.S121S|RGS6_ENST00000404301.2_Silent_p.S121S|RGS6_ENST00000553525.1_Silent_p.S121S|RGS6_ENST00000343854.6_Silent_p.S121S|RGS6_ENST00000434263.2_Silent_p.S52S|RGS6_ENST00000402788.2_Silent_p.S121S|RGS6_ENST00000406236.4_Silent_p.S121S|RGS6_ENST00000355512.6_Silent_p.S121S NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 121 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TCTGGCCTTCGAACTGCTGGG 0.572000 14 38 0 0 0.007413 0 0 EPO 2056 broad.mit.edu 37 7 100320292 100320292 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:100320292G>A ENST00000252723.2 + 4 433 c.252G>A c.(250-252)ggG>ggA p.G84G NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 84 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) TGTAGGTCGGGCAGCAGGCCG 0.657000 6 19 0 0 0.021553 0 0 COTL1 23406 broad.mit.edu 37 16 84600517 84600517 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:84600517C>T ENST00000262428.4 - 4 525 c.363G>A c.(361-363)gaG>gaA p.E121E COTL1_ENST00000564057.1_Silent_p.E52E|COTL1_ENST00000567278.1_5'UTR NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 121 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 TGAAATCTTCCTCCAGCTCCT 0.527000 16 69 0 0 0.006122 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747343 62747343 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:62747343A>C ENST00000377871.3 - 7 1381 c.1115T>G c.(1114-1116)gTg>gGg p.V372G SLC22A6_ENST00000421062.2_Missense_Mutation_p.V372G|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.V372G|SLC22A6_ENST00000458333.2_Missense_Mutation_p.V372G NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 372 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACCAAAGATCACCTGGATTAG 0.562000 7 36 0 0 0.001984 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863035 10863035 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:10863035G>A ENST00000559480.1 + 0 331 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGAGGACACGGCCATGTATTA 0.502000 24 444 0 0 0.018920 0 0 CEP250 11190 broad.mit.edu 37 20 34091909 34091909 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:34091909G>A ENST00000397527.1 + 30 6432 c.5712G>A c.(5710-5712)ttG>ttA p.L1904L CEP250_ENST00000342580.4_Silent_p.L1848L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1904 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGCTCTGTTGGCCCTCCAGC 0.647000 7 15 0 0 0.001984 0 0 OR14I1 401994 broad.mit.edu 37 1 248845249 248845249 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248845249G>A ENST00000342623.3 - 1 380 c.357C>T c.(355-357)gaC>gaT p.D119D NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CAACATAGCGGTCATAAGACA 0.502000 10 26 0 0 0.008291 0 0 RIC3 79608 broad.mit.edu 37 11 8161542 8161542 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:8161542A>T ENST00000343202.4 - 2 388 c.323T>A c.(322-324)tTt>tAt p.F108Y RIC3_ENST00000419822.2_Missense_Mutation_p.F108Y|RIC3_ENST00000539720.1_Missense_Mutation_p.F59Y|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.F108Y|RIC3_ENST00000309737.6_Missense_Mutation_p.F108Y NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 108 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TATATATAAAAAAATCCCAAA 0.363000 9 29 0 0 0.008291 0 0 ZNF423 23090 broad.mit.edu 37 16 49671240 49671240 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:49671240G>T ENST00000561648.1 - 4 1876 c.1823C>A c.(1822-1824)tCc>tAc p.S608Y ZNF423_ENST00000563137.2_Missense_Mutation_p.S548Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S491Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.S548Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S548Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S491Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S608Y NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 608 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CTCCACATCGGACGAGACTGG 0.562000 7 47 3.09899e-07 3.39375e-07 0.004482 1 0 GPR39 2863 broad.mit.edu 37 2 133175151 133175151 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:133175151C>T ENST00000329321.3 + 1 1005 c.536C>T c.(535-537)cCc>cTc p.P179L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 179 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTGAGTACCCCCTGGTGAAC 0.622000 9 22 0 0 0.006214 0 0 OR2T2 401992 broad.mit.edu 37 1 248616126 248616126 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248616126T>A ENST00000342927.3 + 1 50 c.28T>A c.(28-30)Tcc>Acc p.S10T NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCCAGAACTCCACTAACTT 0.502000 20 114 0 0 0.027894 0 0 COL4A1 1282 broad.mit.edu 37 13 110814651 110814651 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:110814651C>T ENST00000375820.4 - 48 4509 c.4388G>A c.(4387-4389)gGg>gAg p.G1463E COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1463 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AATTTTGGTCCCAGAAGGACA 0.532000 34 172 0 0 0.021022 0 0 APOA4 337 broad.mit.edu 37 11 116692323 116692323 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:116692323C>T ENST00000357780.3 - 3 565 c.451G>A c.(451-453)Gag>Aag p.E151K NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CGCAGCTGCTCGGCCTGCGTG 0.687000 22 100 0 0 0.012319 0 0 F11 2160 broad.mit.edu 37 4 187201430 187201430 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:187201430G>A ENST00000264692.4 + 9 1096 c.763G>A c.(763-765)Gat>Aat p.D255N F11_ENST00000403665.2_Missense_Mutation_p.D307N P03951 FA11_HUMAN coagulation factor XI 307 Apple 3. C -> Y (in FA11D; secretion of the mutant protein is impaired). blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGAAGAACTGGATATTGTTGC 0.488000 22 106 0 0 0.012319 0 0 ITIH5 80760 broad.mit.edu 37 10 7679438 7679438 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:7679438C>T ENST00000256861.6 - 5 483 c.405G>A c.(403-405)gaG>gaA p.E135E ITIH5_ENST00000397145.2_Silent_p.E135E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.E135E NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 135 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAGTCCCCTTCTCTCTGTCAG 0.547000 14 38 0 0 0.004990 0 0 PDE4D 5144 broad.mit.edu 37 5 58511677 58511677 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:58511677G>A ENST00000340635.6 - 2 748 c.573C>T c.(571-573)ttC>ttT p.F191F PDE4D_ENST00000360047.5_Silent_p.F55F|PDE4D_ENST00000546160.1_Silent_p.F130F|PDE4D_ENST00000507116.1_Silent_p.F127F|PDE4D_ENST00000502575.1_Silent_p.F127F|PDE4D_ENST00000503258.1_Silent_p.F61F|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000405755.2_Silent_p.F69F|PDE4D_ENST00000502484.2_Silent_p.F130F NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 191 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) ATCGATACAGGAAGGACTCCC 0.527000 5 40 0 0 0.014758 0 0 OR10G4 390264 broad.mit.edu 37 11 123886830 123886830 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123886830C>T ENST00000320891.4 + 1 549 c.549C>T c.(547-549)atC>atT p.I183I NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I183I(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CACCGCCCATCCTGAAACTGG 0.537000 30 72 0 0 0.023175 0 0 RLBP1 6017 broad.mit.edu 37 15 89753551 89753551 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:89753551C>T ENST00000268125.5 - 9 1358 c.919G>A c.(919-921)Ggc>Agc p.G307S NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 307 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) GCCTGGGGGCCAAAGAGCTGC 0.557000 14 53 0 0 0.008871 0 0 ACADM 34 broad.mit.edu 37 1 76198547 76198547 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:76198547C>T ENST00000370841.4 + 4 663 c.226C>T c.(226-228)Ccc>Tcc p.P76S ACADM_ENST00000541113.1_Missense_Mutation_p.P40S|ACADM_ENST00000370834.5_Missense_Mutation_p.P76S|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.P80S NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 76 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 GTATCCAGTCCCCCTAATTAG 0.313000 10 36 0 0 0.008291 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361251 70361251 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:70361251G>A ENST00000305107.6 - 1 375 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S110L|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 110 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGTACTTGTGAAAAATATGA 0.323000 4 8 0 0 0.009096 0 0 FST 10468 broad.mit.edu 37 5 52781517 52781517 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:52781517G>A ENST00000396947.3 + 6 1119 c.951_splice c.e6-1 p.*318_splice FST_ENST00000256759.3_Intron NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 0 Kazal-like 3. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CTAATTTCAGGAATCTGCCCG 0.358000 12 96 0 0 0.016723 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967412 106967412 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:106967412C>T ENST00000390622.2 - 0 350 ATCCCTTCCTCAGCCCTGGAA 0.557000 14 46 0 0 0.016723 0 0 SUCO 51430 broad.mit.edu 37 1 172501872 172501872 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:172501872G>A ENST00000367723.3 + 1 384 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGAGAAAAACGAATTCTGGAA 0.517000 7 40 0 0 0.003080 0 0 RSAD1 55316 broad.mit.edu 37 17 48559767 48559767 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:48559767C>T ENST00000258955.2 + 4 875 c.790C>T c.(790-792)Ctt>Ttt p.L264F NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 264 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCGGGCTGTCCTTCGGGAGGC 0.652000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 36 0 0 0.006214 0 0 C4orf26 152816 broad.mit.edu 37 4 76489650 76489650 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:76489650G>A ENST00000435974.2 + 3 456 c.438G>A c.(436-438)gaG>gaA p.E146E C4orf26_ENST00000311623.4_3'UTR NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGAAAGCTGAGAGGGAAGAGA 0.378000 11 77 0 0 0.013537 0 0 DNAH2 146754 broad.mit.edu 37 17 7660431 7660431 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7660431G>A ENST00000572933.1 + 13 3387 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K DNAH2_ENST00000389173.2_Missense_Mutation_p.E643K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 643 Stem (By similarity). 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) TCTCTTTGCGGAAATTGACTA 0.552000 34 155 0 0 0.021022 0 0 SLC22A5 6584 broad.mit.edu 37 5 131728290 131728290 + Missense_Mutation SNP C C T rs72552735 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:131728290C>T ENST00000245407.3 + 8 1654 c.1433C>T c.(1432-1434)cCc>cTc p.P478L SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.P502L NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 478 P -> L (in CDSP; loss of carnitine transport but stimulated organic cation transport). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTGTCTCCCTACTTCGTT 0.542000 8 18 0 0 0.004482 0 0 TBX21 30009 broad.mit.edu 37 17 45822488 45822488 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:45822488C>T ENST00000177694.1 + 6 1575 c.1364C>T c.(1363-1365)cCc>cTc p.P455L NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 455 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CGGACTCTGCCCATGGAACCC 0.687000 3 20 0 0 0.009096 0 0 LRP1B 53353 broad.mit.edu 37 2 141526857 141526857 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:141526857C>T ENST00000389484.3 - 35 6654 c.5683G>A c.(5683-5685)Gaa>Aaa p.E1895K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1895 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) TCACTTGGTTCAAGAGGTATT 0.413000 TSP Lung(27;0.18) 7 19 0 0 0.001984 0 0 SFMBT2 57713 broad.mit.edu 37 10 7218091 7218091 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:7218091G>A ENST00000361972.4 - 17 1935 c.1845C>T c.(1843-1845)atC>atT p.I615I SFMBT2_ENST00000397167.1_Silent_p.I615I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 615 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 ATGTCCGTACGATTTTGACCA 0.453000 9 51 0 0 0.006214 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717912 142717912 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:142717912G>A ENST00000381779.4 - 2 1238 c.1013C>T c.(1012-1014)cCt>cTt p.P338L SLITRK4_ENST00000356928.1_Missense_Mutation_p.P338L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P338L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 338 LRRNT. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AGGTGTTAGAGGAGGCACCCT 0.458000 19 55 0 0 0.007413 0 0 GLIS1 148979 broad.mit.edu 37 1 53980367 53980367 + Missense_Mutation SNP G G C rs142735388 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:53980367G>C ENST00000312233.2 - 7 1855 c.1289C>G c.(1288-1290)cCg>cGg p.P430R NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 430 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGCATCCAGCGGGTGGTGCCT 0.637000 7 44 0 0 0.003080 0 0 FOLH1 2346 broad.mit.edu 37 11 49196459 49196459 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:49196459C>T ENST00000340334.7 - 10 1413 c.1045G>A c.(1045-1047)Gga>Aga p.G349R FOLH1_ENST00000533034.1_Missense_Mutation_p.G349R|FOLH1_ENST00000256999.2_Missense_Mutation_p.G364R|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Missense_Mutation_p.G56R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G364R NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 364 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCCACTGCTCCTCTGAGAGTA 0.373000 4 25 0 0 0.009096 0 0 TMEM63C 57156 broad.mit.edu 37 14 77705057 77705057 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:77705057C>T ENST00000298351.4 + 10 816 c.672C>T c.(670-672)atC>atT p.I224I NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 224 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CACTAATGATCACCTATGTGC 0.463000 10 33 0 0 0.013537 0 0 RMDN2 151393 broad.mit.edu 37 2 38179163 38179163 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:38179163C>T ENST00000407257.1 + 2 952 c.805C>T c.(805-807)Ccc>Tcc p.P269S RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.P269S|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Missense_Mutation_p.P269S|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 TCCACAGCATCCCTCTCAAAG 0.388000 8 44 0 0 0.003080 0 0 RIMS1 22999 broad.mit.edu 37 6 73000453 73000453 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:73000453G>A ENST00000521978.1 + 25 3626 c.3626G>A c.(3625-3627)gGa>gAa p.G1209E RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron NM_014989.5 NP_055804.2 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1209 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTCATTAGGGGAAAACATCCT 0.517000 7 25 0 0 0.003080 0 0 MS4A4A 51338 broad.mit.edu 37 11 60068490 60068490 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:60068490C>T ENST00000355131.3 + 5 513 c.290C>T c.(289-291)tCc>tTc p.S97F MS4A4A_ENST00000395016.3_Missense_Mutation_p.S97F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S116F|MS4A4A_ENST00000337908.4_Missense_Mutation_p.S116F NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 116 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 ATTTCAGGATCCTTGTCAATT 0.279000 5 17 0 0 0.021553 0 0 ASB17 127247 broad.mit.edu 37 1 76397802 76397802 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:76397802C>T ENST00000284142.6 - 1 314 c.175G>A c.(175-177)Gac>Aac p.D59N NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 59 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 CCATCCAAGTCCACATACCTC 0.393000 23 72 0 0 0.018920 0 0 SYBU 55638 broad.mit.edu 37 8 110587741 110587741 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:110587741G>A ENST00000399066.3 - 6 2104 c.1377C>T c.(1375-1377)acC>acT p.T459T SYBU_ENST00000422135.1_Silent_p.T462T|SYBU_ENST00000533171.1_Silent_p.T462T|SYBU_ENST00000533065.1_Silent_p.T343T|SYBU_ENST00000446070.2_Silent_p.T461T|SYBU_ENST00000533895.1_Silent_p.T461T|SYBU_ENST00000529175.1_Silent_p.T256T|SYBU_ENST00000532779.1_Silent_p.T394T|SYBU_ENST00000529690.1_Silent_p.T332T|SYBU_ENST00000424158.2_Silent_p.T467T|SYBU_ENST00000433638.1_Silent_p.T462T|SYBU_ENST00000528647.1_Silent_p.T461T|SYBU_ENST00000408908.2_Silent_p.T462T|SYBU_ENST00000440310.1_Silent_p.T462T|SYBU_ENST00000419099.1_Silent_p.T461T|SYBU_ENST00000408889.3_Silent_p.T343T|SYBU_ENST00000528331.1_Silent_p.T343T|SYBU_ENST00000276646.9_Silent_p.T462T NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 462 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TAGCCCCAGGGGTGGAATGCA 0.567000 4 40 0 0 0.009096 0 0 CACNA1A 773 broad.mit.edu 37 19 13476158 13476158 + Missense_Mutation SNP G G A rs121908228 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:13476158G>A ENST00000360228.5 - 5 756 c.757C>T c.(757-759)Cat>Tat p.H253Y CACNA1A_ENST00000573710.2_Missense_Mutation_p.H253Y NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 253 H -> Y (in EA2; dbSNP:rs121908228). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGGTGGTATGAAATTTTCCC 0.453000 16 64 0 0 0.004990 0 0 ANK3 288 broad.mit.edu 37 10 61833536 61833536 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:61833536C>T ENST00000280772.1 - 37 7294 c.7103G>A c.(7102-7104)gGa>gAa p.G2368E ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2368 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTAATATCTCCCCGGGATAA 0.388000 7 37 0 0 0.001984 0 0 HOOK2 29911 broad.mit.edu 37 19 12874531 12874531 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:12874531G>A ENST00000264827.5 - 20 2053 c.1883C>T c.(1882-1884)tCc>tTc p.S628F HOOK2_ENST00000397668.3_Missense_Mutation_p.S630F NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 630 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 TGTCCTCAGGGAATGGAGTTC 0.602000 10 52 0 0 0.008291 0 0 COL1A2 1278 broad.mit.edu 37 7 94037187 94037187 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:94037187G>A ENST00000297268.6 + 13 1094 c.623G>A c.(622-624)gGa>gAa p.G208E NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 208 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTGAAAATGGAACTCCAGGT 0.338000 HNSCC(75;0.22) 6 24 0 0 0.001984 0 0 TCF20 6942 broad.mit.edu 37 22 42605785 42605785 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:42605785G>A ENST00000359486.3 - 1 5663 c.5527C>T c.(5527-5529)Cct>Tct p.P1843S TCF20_ENST00000335626.4_Missense_Mutation_p.P1843S|TCF20_ENST00000404876.1_Missense_Mutation_p.P144S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTAGTTCAGGGATTTGTAAC 0.517000 29 98 0 0 0.007291 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185252 127185252 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:127185252C>T ENST00000371124.3 - 1 1130 c.934G>A c.(934-936)Gaa>Aaa p.E312K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 312 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ATGAGCCTTTCCTCCAGCCCA 0.507000 13 71 0 0 0.013537 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798741 55798741 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55798741C>T ENST00000313555.1 + 1 847 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TGTTGTATTTCCCATGTTTAA 0.348000 8 28 0 0 0.004482 0 0 DCC 1630 broad.mit.edu 37 18 51013311 51013311 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:51013311G>A ENST00000442544.2 + 26 4497 c.3881G>A c.(3880-3882)gGa>gAa p.G1294E DCC_ENST00000581580.1_Missense_Mutation_p.G929E|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1294 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGAGGTTTCGGAGCAGGAAGA 0.468000 12 36 0 0 0.010729 0 0 KCNV1 27012 broad.mit.edu 37 8 110980336 110980336 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:110980336C>T ENST00000524391.1 - 4 2516 c.1484G>A c.(1483-1485)gGa>gAa p.G495E KCNV1_ENST00000297404.1_Missense_Mutation_p.G495E Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 495 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GAAATCATCTCCCCCGCTGCT 0.368000 5 18 0 0 0.014758 0 0 THSD7B 80731 broad.mit.edu 37 2 138425405 138425405 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:138425405C>T ENST00000409968.1 + 27 4891 c.4713C>T c.(4711-4713)ttC>ttT p.F1571F THSD7B_ENST00000413152.2_Silent_p.F1543F|THSD7B_ENST00000272643.3_Silent_p.F1574F 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) TCATGATTTTCCTAATATTTA 0.313000 4 5 0 0 0.014758 0 0 TMEM225 338661 broad.mit.edu 37 11 123756020 123756020 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123756020G>A ENST00000375026.2 - 1 329 c.113C>T c.(112-114)tCa>tTa p.S38L NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 38 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTCATCTTCTGAAATCAATTC 0.443000 7 59 0 0 0.001984 0 0 GPX6 257202 broad.mit.edu 37 6 28483506 28483506 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:28483506G>A ENST00000361902.1 - 1 64 c.15C>T c.(13-15)ttC>ttT p.F5F GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.F5F NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 5 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGGAGGCCTGGAACTGCTGGA 0.542000 4 28 0 0 0.014758 0 0 NPAP1 23742 broad.mit.edu 37 15 24922786 24922786 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:24922786C>T ENST00000329468.2 + 1 2246 c.1772C>T c.(1771-1773)tCt>tTt p.S591F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATTTTCACATCTTCCCTAAGC 0.483000 7 43 0 0 0.004482 0 0 PCTP 58488 broad.mit.edu 37 17 53851191 53851191 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:53851191T>G ENST00000576183.1 + 4 489 c.446T>G c.(445-447)gTg>gGg p.V149G PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000325214.6_Missense_Mutation_p.V77G|PCTP_ENST00000268896.5_Missense_Mutation_p.V149G|PCTP_ENST00000573500.1_Missense_Mutation_p.V149G Q9UKL6 PPCT_HUMAN phosphatidylcholine transfer protein 149 START. cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(1;0.00207) AGGTCTGGGGTGATCCGGGTG 0.597000 4 15 0 0 0.009096 0 0 DNAH2 146754 broad.mit.edu 37 17 7697628 7697628 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7697628C>T ENST00000572933.1 + 49 9086 c.7626C>T c.(7624-7626)tcC>tcT p.S2542S DNAH2_ENST00000389173.2_Silent_p.S2542S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2542 AAA 3 (By similarity). 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) CTGTCATCTCCCCAAGGCTAC 0.602000 14 40 0 0 0.024245 0 0 WDR31 114987 broad.mit.edu 37 9 116093332 116093332 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:116093332G>A ENST00000374193.4 - 4 427 c.181C>T c.(181-183)Cac>Tac p.H61Y WDR31_ENST00000341761.4_Missense_Mutation_p.H60Y|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Intron NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 61 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GTATCCATGTGAGCTGGGCTA 0.438000 9 31 0 0 0.004482 0 0 RLIM 51132 broad.mit.edu 37 X 73812495 73812495 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:73812495G>A ENST00000332687.6 - 4 873 c.655C>T c.(655-657)Cgg>Tgg p.R219W RLIM_ENST00000349225.2_Missense_Mutation_p.R219W NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 219 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGGTTCTCCGATGGTCTGGG 0.478000 32 83 0 0 0.017118 0 0 GABRE 2564 broad.mit.edu 37 X 151123933 151123933 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:151123933G>A ENST00000370325.1 - 8 1097 c.1044C>T c.(1042-1044)ttC>ttT p.F348F GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.F348F P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 348 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGCAGAAGACGAAGCAGATGG 0.488000 11 41 0 0 0.008291 0 0 LIPF 8513 broad.mit.edu 37 10 90427359 90427359 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:90427359G>A ENST00000394375.3 + 4 282 c.169G>A c.(169-171)Gaa>Aaa p.E57K LIPF_ENST00000238983.4_Missense_Mutation_p.E47K|LIPF_ENST00000355843.2_Missense_Mutation_p.E47K NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 47 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATACCCAAATGAAGAATATGA 0.294000 12 56 0 0 0.024245 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033436 82033436 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:82033436C>T ENST00000328945.5 - 3 589 c.462G>A c.(460-462)cgG>cgA p.R154R SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 154 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TTGACTTTGTCCGAGAGTAGT 0.532000 5 49 0 0 0.014758 0 0 SLC4A10 57282 broad.mit.edu 37 2 162761303 162761303 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:162761303C>T ENST00000375514.5 + 14 1865 c.1578C>T c.(1576-1578)ctC>ctT p.L526L SLC4A10_ENST00000272716.5_Silent_p.L515L|SLC4A10_ENST00000446997.1_Silent_p.L545L|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.L545L|SLC4A10_ENST00000415876.2_Silent_p.L515L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 545 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTGAATCTCTCTTTGGAGCAT 0.408000 16 65 0 0 0.028581 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230729 29230729 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:29230729G>A ENST00000441381.1 + 0 79 GTGATGCAAGGAAAATGAAAA 0.398000 5 15 0 0 0.021553 0 0 SCN11A 11280 broad.mit.edu 37 3 38938508 38938508 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:38938508G>A ENST00000302328.3 - 14 2429 c.2231C>T c.(2230-2232)tCa>tTa p.S744L SCN11A_ENST00000456224.3_Missense_Mutation_p.S744L|SCN11A_ENST00000444237.2_Missense_Mutation_p.S744L|SCN11A_ENST00000450244.1_Missense_Mutation_p.S744L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 744 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCGTAAACATGAGACTGTCGG 0.483000 10 34 0 0 0.008291 0 0 OR6T1 219874 broad.mit.edu 37 11 123814338 123814338 + Nonsense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123814338C>A ENST00000321252.2 - 1 242 c.208G>T c.(208-210)Gag>Tag p.E70* NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AGCAACAGCTCCAGGAAGGAG 0.498000 9 65 0.00621372 0.00672692 0.006214 1 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342588 16342588 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:16342588G>A ENST00000475953.1 + 0 230 C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA NR_027667.1 GGGCAGCGCGGGGCCGAATCC 0.697000 11 50 0 0 0.016723 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38189091 38189091 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:38189091T>A ENST00000317025.8 - 5 1440 c.923A>T c.(922-924)tAt>tTt p.Y308F WHSC1L1_ENST00000316985.3_Missense_Mutation_p.Y308F|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.Y308F|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.Y308F NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 308 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTGGACATGATATTCTCGGGC 0.398000 T NUP98 AML 9 21 0 0 0.008291 0 0 RHOXF2B 727940 broad.mit.edu 37 X 119211062 119211062 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:119211062C>T ENST00000371402.2 - 2 460 c.271G>A c.(271-273)Gaa>Aaa p.E91K RP4-755D9.1_ENST00000553843.1_RNA NM_001099685.1 NP_001093155.1 P0C7M4 RHF2B_HUMAN Rhox homeobox family, member 2B 91 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E91K(1) kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1) 7 AGGTTTCCTTCCCATAGGTGG 0.607000 11 46 0 0 0.010729 0 0 OR6N2 81442 broad.mit.edu 37 1 158746909 158746909 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:158746909C>T ENST00000339258.1 - 1 516 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TGTTGGATTTCATTGTAAGCA 0.473000 10 25 0 0 0.006214 0 0 LCT 3938 broad.mit.edu 37 2 136567447 136567447 + Missense_Mutation SNP C C T rs140434720 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:136567447C>T ENST00000264162.2 - 8 2480 c.2470G>A c.(2470-2472)Gac>Aac p.D824N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 824 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTGCTGCTGTCGCTGAAGTTG 0.507000 15 72 0 0 0.028581 0 0 PRLR 5618 broad.mit.edu 37 5 35065841 35065841 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:35065841G>A ENST00000382002.5 - 10 1645 c.1219C>T c.(1219-1221)Cat>Tat p.H407Y PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.H306Y|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.H306Y|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 407 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCACCAGCATGAAAATAGGGG 0.493000 32 89 0 0 0.017118 0 0 SEMA3E 9723 broad.mit.edu 37 7 83095806 83095806 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:83095806G>A ENST00000307792.3 - 4 915 c.448C>T c.(448-450)Cat>Tat p.H150Y SEMA3E_ENST00000427262.1_Missense_Mutation_p.H90Y NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 150 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ACCTCCAAATGATATCCAACT 0.378000 8 14 0 0 0.003080 0 0 TPTE 7179 broad.mit.edu 37 21 10933925 10933925 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:10933925G>A ENST00000298232.7 - 16 1267 c.900C>T c.(898-900)ttC>ttT p.F300F TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.F318F|TPTE_ENST00000342420.5_Silent_p.F280F NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 318 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) CTTCCTTGGTGAAAACCACCA 0.328000 20 228 0 0 0.014323 0 0 EGFLAM 133584 broad.mit.edu 37 5 38412625 38412625 + Translation_Start_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:38412625G>A ENST00000397202.2 + 0 364 EGFLAM_ENST00000336740.6_Missense_Mutation_p.V223I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.V457I|EGFLAM_ENST00000322350.5_Missense_Mutation_p.V457I Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGAACTGGGGTTGCCATCAT 0.483000 11 54 0 0 0.013537 0 0 MEGF8 1954 broad.mit.edu 37 19 42839536 42839536 + Splice_Site SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:42839536C>T ENST00000334370.4 + 5 1462 c.828_splice c.e5+1 p.P276_splice MEGF8_ENST00000251268.6_Splice_Site_p.P276_splice NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 276 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AGTCCTGCCCCGGTATGGACC 0.612000 7 45 0 0 0.006214 0 0 ZNF766 90321 broad.mit.edu 37 19 52794264 52794264 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:52794264G>A ENST00000439461.1 + 4 1263 c.1220G>A c.(1219-1221)gGa>gAa p.G407E ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.G422E|ZNF766_ENST00000593612.1_Missense_Mutation_p.G422E|CTD-2525I3.5_ENST00000594865.1_RNA NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) ATTCACACTGGAGAGAAACCT 0.383000 3 21 0 0 0.004672 0 0 SPNS1 83985 broad.mit.edu 37 16 28992876 28992876 + Nonsense_Mutation SNP C C G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:28992876C>G ENST00000311008.11 + 6 1126 c.749C>G c.(748-750)tCa>tGa p.S250* SPNS1_ENST00000334536.8_Nonsense_Mutation_p.S250*|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Nonsense_Mutation_p.S177*|SPNS1_ENST00000352260.7_Nonsense_Mutation_p.S228*|SPNS1_ENST00000565975.1_Nonsense_Mutation_p.S295*|SPNS1_ENST00000561868.1_3'UTR NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 250 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GAGCGCCACTCAGATTTGCCA 0.627000 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 44 0 0 0.006214 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695555 219695555 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:219695555C>T ENST00000439262.2 - 3 163 c.68G>A c.(67-69)aGa>aAa p.R23K PRKAG3_ENST00000392098.3_Missense_Mutation_p.R48K|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R48K NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 48 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding p.R48I(1) large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCACGGATTCTTTCTGAGCT 0.567000 20 61 0 0 0.021523 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256386 24256386 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:24256386G>A ENST00000538205.1 + 10 1072 c.e10-1 RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Splice_Site NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TCTTTCCACAGATATATAACA 0.413000 5 29 0 0 0.014758 0 0 BCAS3 54828 broad.mit.edu 37 17 59067551 59067551 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:59067551C>T ENST00000589222.1 + 15 1509 c.1441C>T c.(1441-1443)Cct>Tct p.P481S BCAS3_ENST00000588462.1_Missense_Mutation_p.P481S|BCAS3_ENST00000588874.1_Missense_Mutation_p.P252S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P481S|BCAS3_ENST00000407086.3_Missense_Mutation_p.P481S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P481S|BCAS3_ENST00000585744.1_Missense_Mutation_p.P252S Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 481 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCGCTGTAGCCCTGTTCCAGG 0.478000 14 36 0 0 0.020292 0 0 ARID2 196528 broad.mit.edu 37 12 46285682 46285682 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:46285682C>T ENST00000334344.6 + 17 5214 c.5042C>T c.(5041-5043)tCt>tTt p.S1681F ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S1291F|ARID2_ENST00000422737.1_Missense_Mutation_p.S1532F|ARID2_ENST00000457135.1_Missense_Mutation_p.S289F NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1681 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGCGGTTTTCTTTTATTACC 0.408000 """N, S, F""" hepatocellular carcinoma 16 64 0 0 0.007413 0 0 GK 2710 broad.mit.edu 37 X 30738986 30738986 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:30738986G>A ENST00000378943.3 + 17 1536 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K GK_ENST00000427190.1_Missense_Mutation_p.E254K|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.E453K|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.E459K NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 459 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CTCAATGCCCGAAACCACTGC 0.527000 6 16 0 0 0.021553 0 0 KIAA1586 57691 broad.mit.edu 37 6 56919200 56919200 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:56919200G>A ENST00000370733.4 + 4 2110 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K KIAA1586_ENST00000545356.1_Missense_Mutation_p.E608K NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 635 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGATTTGCTGGAACCTTCCAC 0.308000 4 32 0 0 0.009096 0 0 C1orf74 148304 broad.mit.edu 37 1 209956302 209956302 + Silent SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:209956302A>G ENST00000294811.1 - 2 934 c.678T>C c.(676-678)agT>agC p.S226S NM_152485.2 NP_689698.1 Q96LT6 CA074_HUMAN chromosome 1 open reading frame 74 226 endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(81;0.0328) CTGGGAACAAACTCTCTGGGA 0.498000 20 50 0 0 0.008871 0 0 CBX6 23466 broad.mit.edu 37 22 39262274 39262274 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:39262274C>T ENST00000407418.3 - 5 1302 c.1179G>A c.(1177-1179)aaG>aaA p.K393K CBX6_ENST00000216083.6_Silent_p.K375K O95503 CBX6_HUMAN chromobox homolog 6 393 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) CAGCAGCCACCTTCTCGAAAT 0.637000 4 21 0 0 0.014758 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388219 46388219 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:46388219G>C ENST00000302165.3 - 1 1157 c.814C>G c.(814-816)Ctg>Gtg p.L272V NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) AAGAGCTTCAGCTCGAACTCG 0.622000 9 41 0 0 0.004482 0 0 ART3 419 broad.mit.edu 37 4 77003159 77003159 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:77003159C>T ENST00000355810.4 + 3 371 c.252C>T c.(250-252)atC>atT p.I84I ART3_ENST00000341029.5_Silent_p.I84I|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Silent_p.I84I NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 84 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGACTCAAATCTTTCTCCCTA 0.433000 8 27 0 0 0.004482 0 0 NPAP1 23742 broad.mit.edu 37 15 24921455 24921455 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:24921455G>A ENST00000329468.2 + 1 915 c.441G>A c.(439-441)gaG>gaA p.E147E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTCTCCTGGAGGAGACCGAGG 0.607000 6 27 0 0 0.001984 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411557 105411557 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:105411557C>T ENST00000333244.5 - 7 10350 c.10231G>A c.(10231-10233)Gtg>Atg p.V3411M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3411 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGATGTCCACCTGGGGGCTC 0.622000 40 160 0 0 0.007835 0 0 NFIA 4774 broad.mit.edu 37 1 61554110 61554110 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:61554110C>T ENST00000403491.3 + 2 801 c.317C>T c.(316-318)tCc>tTc p.S106F NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Missense_Mutation_p.S106F|NFIA_ENST00000371185.2_Missense_Mutation_p.S106F|NFIA_ENST00000371189.4_Missense_Mutation_p.S151F|NFIA_ENST00000485903.2_Missense_Mutation_p.S106F|NFIA_ENST00000407417.3_Missense_Mutation_p.S98F|NFIA_ENST00000371187.3_Missense_Mutation_p.S106F|NFIA_ENST00000371191.1_Missense_Mutation_p.S129F NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 106 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 TGTGTTCTTTCCAACCCAGAC 0.448000 10 57 0 0 0.008291 0 0 ACCSL 390110 broad.mit.edu 37 11 44074611 44074611 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:44074611G>A ENST00000378832.1 + 7 997 c.941G>A c.(940-942)aGg>aAg p.R314K NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 314 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CTTGAAGCTAGGCTTGAGGTA 0.458000 12 39 0 0 0.010729 0 0 FER1L6 654463 broad.mit.edu 37 8 125061950 125061950 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:125061950G>A ENST00000522917.1 + 22 3033 c.2827G>A c.(2827-2829)Ggg>Agg p.G943R FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G943R NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 943 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CATCTTTTGTGGGAATCTCTC 0.522000 9 62 0 0 0.006214 0 0 OR1N1 138883 broad.mit.edu 37 9 125289540 125289540 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:125289540G>A ENST00000304880.2 - 1 32 c.33C>T c.(31-33)ttC>ttT p.F11F NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTCCTCGGAGGAAAAATTCAG 0.473000 3 12 0 0 0.004672 0 0 PTPRK 5796 broad.mit.edu 37 6 128505719 128505719 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:128505719G>A ENST00000368227.3 - 7 1386 c.1020C>T c.(1018-1020)acC>acT p.T340T PTPRK_ENST00000532331.1_Silent_p.T340T|PTPRK_ENST00000368210.3_Silent_p.T340T|PTPRK_ENST00000368207.3_Silent_p.T340T|PTPRK_ENST00000368215.3_Silent_p.T340T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Silent_p.T340T|PTPRK_ENST00000368213.5_Silent_p.T340T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 340 Fibronectin type-III 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGACTGCATGGGTTTCTGTCC 0.438000 23 88 0 0 0.027356 0 0 NCAPG2 54892 broad.mit.edu 37 7 158448105 158448105 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:158448105G>A ENST00000409339.3 - 20 2544 c.2431C>T c.(2431-2433)Cgt>Tgt p.R811C NCAPG2_ENST00000275830.10_Missense_Mutation_p.R603C|NCAPG2_ENST00000541468.1_Missense_Mutation_p.R312C|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R811C|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R811C|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R811C Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 811 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CTGAAGCCACGAGGCTTCCCA 0.577000 27 83 0 0 0.024334 0 0 IGHG3 3502 broad.mit.edu 37 14 106236019 106236019 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:106236019G>A ENST00000390551.2 - 0 784 TGGTTTTCTCGATGGGGGCTG 0.612000 43 177 0 0 0.014410 0 0 ZIM3 114026 broad.mit.edu 37 19 57646329 57646329 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:57646329C>T ENST00000269834.1 - 5 1761 c.1376G>A c.(1375-1377)aGg>aAg p.R459K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGGTATGACCTGTCAGCGAA 0.418000 14 102 0 0 0.004990 0 0 STK19 8859 broad.mit.edu 37 6 31940487 31940487 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:31940487C>A ENST00000375331.2 + 3 686 c.520C>A c.(520-522)Cag>Aag p.Q174K STK19_ENST00000375333.2_Missense_Mutation_p.Q174K|STK19_ENST00000463823.1_Intron NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 174 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCTGAGGAGCCAGGTGTACAG 0.662000 27 54 8.58068e-18 9.53161e-18 0.007291 1 0 RANBP2 5903 broad.mit.edu 37 2 109379918 109379918 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:109379918T>C ENST00000283195.6 + 20 3049 c.2923T>C c.(2923-2925)Ttg>Ctg p.L975L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 975 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAATCCACCTTTGCCAGAACC 0.408000 13 37 0 0 0.013537 0 0 DNAH8 1769 broad.mit.edu 37 6 38950122 38950122 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:38950122G>A ENST00000359357.3 + 84 12438 c.12183_splice c.e84-1 p.E4062_splice DNAH8_ENST00000441566.1_Splice_Site_p.E4026_splice 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 TGTTTTTAAGGAGCGACGAAA 0.328000 18 77 0 0 0.016522 0 0 ARIH2 10425 broad.mit.edu 37 3 49005999 49005999 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:49005999C>T ENST00000356401.4 + 7 910 c.571C>T c.(571-573)Cgt>Tgt p.R191C ARIH2_ENST00000449376.1_Missense_Mutation_p.R191C|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 191 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) CTGTCCACTCCGTACACCAGA 0.507000 20 79 0 0 0.008871 0 0 SHANK2 22941 broad.mit.edu 37 11 70336410 70336410 + Missense_Mutation SNP C C A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:70336410C>A ENST00000338508.4 - 30 2524 c.2525G>T c.(2524-2526)cGa>cTa p.R842L SHANK2_ENST00000409530.1_Missense_Mutation_p.R252L|SHANK2_ENST00000449833.2_Missense_Mutation_p.R246L|SHANK2_ENST00000449116.2_Missense_Mutation_p.R243L|SHANK2_ENST00000423696.2_Missense_Mutation_p.R462L|SHANK2_ENST00000409161.1_Missense_Mutation_p.R245L|SHANK2_ENST00000357171.3_Missense_Mutation_p.R253L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 462 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CATCGTACCTCGAGGGATGCC 0.562000 13 60 9.05144e-12 9.98941e-12 0.016723 1 0 TTC26 79989 broad.mit.edu 37 7 138845778 138845778 + Missense_Mutation SNP G G A rs143828323 by1000genomes TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:138845778G>A ENST00000474035.2 + 8 882 c.802G>A c.(802-804)Gat>Aat p.D268N TTC26_ENST00000343187.4_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000464848.1_Intron|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000481482.1_Intron A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 384 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GGTGAATAACGATTTCCCGTC 0.388000 4 19 0 0 0.009096 0 0 SLC4A8 9498 broad.mit.edu 37 12 51853762 51853762 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:51853762C>T ENST00000453097.2 + 8 1100 c.883C>T c.(883-885)Cct>Tct p.P295S SLC4A8_ENST00000535225.2_Missense_Mutation_p.P242S|SLC4A8_ENST00000358657.3_Missense_Mutation_p.P322S|SLC4A8_ENST00000394856.1_Missense_Mutation_p.P242S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.P242S NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 295 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GAAAAAAATTCCTACTGGGGC 0.423000 19 100 0 0 0.008871 0 0 GPR174 84636 broad.mit.edu 37 X 78426611 78426611 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:78426611G>A ENST00000276077.1 + 1 143 c.107G>A c.(106-108)gGg>gAg p.G36E NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 36 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GGTCTCATAGGGAATATATTA 0.373000 HNSCC(63;0.18) 7 11 0 0 0.003080 0 0 MYH2 4620 broad.mit.edu 37 17 10432309 10432309 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:10432309C>T ENST00000245503.5 - 27 3826 c.3442G>A c.(3442-3444)Gag>Aag p.E1148K CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1148K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1148 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTCCAGCTCCCGGGAGAGG 0.617000 19 84 0 0 0.008871 0 0 COL5A1 1289 broad.mit.edu 37 9 137694743 137694743 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:137694743G>A ENST00000371817.3 + 39 3430 c.3016G>A c.(3016-3018)Gga>Aga p.G1006R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1006 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGTCCCACGGGAGAAACGGG 0.597000 6 12 0 0 0.001984 0 0 OR4E2 26686 broad.mit.edu 37 14 22134223 22134223 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:22134223G>A ENST00000408935.1 + 1 927 c.927G>A c.(925-927)acG>acA p.T309T NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T309T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTTTTTCACGAAATCATATA 0.393000 3 18 0 0 0.004672 0 0 ADH1C 126 broad.mit.edu 37 4 100263983 100263983 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:100263983G>A ENST00000515683.1 - 0 1148 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 44 182 0 0 0.014410 0 0 OR4K1 79544 broad.mit.edu 37 14 20404677 20404677 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:20404677C>T ENST00000285600.4 + 1 911 c.852C>T c.(850-852)ccC>ccT p.P284P NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGTTGAACCCCATCATCTACT 0.423000 4 70 0 0 0.009096 0 0 SCTR 6344 broad.mit.edu 37 2 120236446 120236446 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:120236446G>A ENST00000019103.5 - 3 509 c.242C>T c.(241-243)cCg>cTg p.P81L AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 81 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) CATCCGGCCCGGCACAGAAGA 0.617000 7 42 0 0 0.003080 0 0 FGF13 2258 broad.mit.edu 37 X 137717627 137717627 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:137717627G>A ENST00000315930.6 - 4 1253 c.592C>T c.(592-594)Cca>Tca p.P198S FGF13_ENST00000305414.4_Missense_Mutation_p.P145S|FGF13_ENST00000370603.3_Missense_Mutation_p.P208S|FGF13_ENST00000541469.1_Missense_Mutation_p.P152S|FGF13_ENST00000441825.2_Missense_Mutation_p.P179S NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 198 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CCTTTCAGTGGTTTAGGCAGA 0.393000 21 67 0 0 0.014323 0 0 DNAH17 8632 broad.mit.edu 37 17 76570813 76570813 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:76570813C>T ENST00000389840.5 - 2 451 c.327G>A c.(325-327)ctG>ctA p.L109L DNAH17_ENST00000585328.1_Silent_p.L109L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCACCGCGATCAGCTGGTCCA 0.612000 13 69 0 0 0.013537 0 0 CHAT 1103 broad.mit.edu 37 10 50835666 50835666 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:50835666G>A ENST00000395562.2 + 8 1169 c.700G>A c.(700-702)Gat>Aat p.D234N CHAT_ENST00000455728.2_Missense_Mutation_p.D198N|CHAT_ENST00000351556.3_Missense_Mutation_p.D198N|CHAT_ENST00000337653.2_Missense_Mutation_p.D316N|CHAT_ENST00000395559.2_Missense_Mutation_p.D198N|CHAT_ENST00000339797.1_Missense_Mutation_p.D198N NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 316 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTTTGTCTTGGATGTTGTCAT 0.512000 27 52 0 0 0.010818 0 0 OR5T1 390155 broad.mit.edu 37 11 56043507 56043507 + Silent SNP T T C rs147254260 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:56043507T>C ENST00000313033.2 + 1 479 c.393T>C c.(391-393)gcT>gcC p.A131A NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) CTGCAATGGCTTATGATCGCT 0.423000 30 106 0 0 0.008361 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560026 32560026 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:32560026C>T ENST00000345122.3 + 2 466 c.151C>T c.(151-153)Cca>Tca p.P51S ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P51S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P51S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P51S NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 51 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TGAATATTATCCAGAGCATAC 0.388000 10 34 0 0 0.008291 0 0 MROH2B 133558 broad.mit.edu 37 5 41015542 41015542 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:41015542C>T ENST00000399564.4 - 29 3373 c.2923G>A c.(2923-2925)Gaa>Aaa p.E975K MROH2B_ENST00000506092.2_Missense_Mutation_p.E530K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCCAGCCCTTCCTGCAAACCC 0.418000 9 21 0 0 0.006214 0 0 IL17A 3605 broad.mit.edu 37 6 52052501 52052501 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:52052501G>A ENST00000340057.1 + 2 173 c.128G>A c.(127-129)cGg>cAg p.R43Q NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 43 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) AACTTCCCCCGGACTGTGATG 0.498000 29 102 0 0 0.006320 0 0 ELANE 1991 broad.mit.edu 37 19 852888 852888 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:852888C>T ENST00000590230.1 + 3 221 c.80C>T c.(79-81)gCc>gTc p.A27V ELANE_ENST00000263621.1_Missense_Mutation_p.A27V P08246 ELNE_HUMAN elastase, neutrophil expressed 27 cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) ACCGCGCTGGCCTCGGAGATT 0.726000 3 16 0 0 0.009096 0 0 TRHR 7201 broad.mit.edu 37 8 110131324 110131324 + Nonsense_Mutation SNP G G A rs143656279 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:110131324G>A ENST00000518632.1 + 3 1188 c.837G>A c.(835-837)tgG>tgA p.W279* TRHR_ENST00000311762.2_Nonsense_Mutation_p.W279* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 279 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.W279*(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCCTTTTATGGATGCCCTACA 0.388000 58 133 0 0 0.014410 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542123 40542123 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:40542123G>A ENST00000434248.1 - 5 708 c.643C>T c.(643-645)Cat>Tat p.H215Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H67Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCACCAGTATGAAATTTCTGA 0.373000 5 30 0 0 0.014758 0 0 AGXT2 64902 broad.mit.edu 37 5 35035371 35035371 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:35035371C>T ENST00000231420.6 - 5 737 c.537G>A c.(535-537)ctG>ctA p.L179L NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 179 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCCTGGCCATCAGCATGGCCA 0.433000 16 122 0 0 0.028581 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128648 150128648 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:150128648C>T ENST00000361875.2 + 1 2527 c.1511C>T c.(1510-1512)cCc>cTc p.P504L TSC22D2_ENST00000361136.2_Missense_Mutation_p.P504L NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 504 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCCGTGGTGCCCGGAGTTCCA 0.672000 7 21 0 0 0.006214 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516153 140516153 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:140516153G>A ENST00000231134.5 + 1 1354 c.1137G>A c.(1135-1137)agG>agA p.R379R NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 379 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGGTAGGATGATTTGCT 0.488000 10 43 0 0 0.010729 0 0 ANK3 288 broad.mit.edu 37 10 62039337 62039337 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:62039337C>T ENST00000280772.1 - 2 366 c.175G>A c.(175-177)Gac>Aac p.D59N ANK3_ENST00000373827.2_Missense_Mutation_p.D53N|ANK3_ENST00000503366.1_Missense_Mutation_p.D42N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 59 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTATGTAGTCGAGGGCCTTT 0.343000 25 66 0 0 0.027356 0 0 VPS35 55737 broad.mit.edu 37 16 46715297 46715297 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:46715297G>A ENST00000299138.7 - 4 373 c.315C>T c.(313-315)atC>atT p.I105I NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 105 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACAGCCTTGGGATAATGTTTC 0.363000 6 46 0 0 0.003080 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72200398 72200398 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:72200398C>T ENST00000555818.1 + 19 5288 c.4940C>T c.(4939-4941)tCg>tTg p.S1647L SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1626L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S1101L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1626L NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1647 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) TTCTCAGCCTCGGACAGCTCC 0.572000 9 41 0 0 0.006214 0 0 GNAZ 2781 broad.mit.edu 37 22 23438161 23438161 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:23438161C>T ENST00000248996.4 + 2 945 c.279C>T c.(277-279)atC>atT p.I93I RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 93 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CCCTCAGGATCGACTTCCACA 0.642000 25 87 0 0 0.024334 0 0 OR2W1 26692 broad.mit.edu 37 6 29012544 29012544 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:29012544T>G ENST00000377175.1 - 1 473 c.409A>C c.(409-411)Aac>Cac p.N137H NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AGATGTGGGTTCATGACTACA 0.398000 5 30 0 0 0.014758 0 0 OR51B2 79345 broad.mit.edu 37 11 5345070 5345070 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:5345070G>A ENST00000328813.2 - 1 512 c.458C>T c.(457-459)tCc>tTc p.S153F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCAGGATGGATACAAAACC 0.413000 10 33 0 0 0.006214 0 0 F2RL1 2150 broad.mit.edu 37 5 76128859 76128859 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:76128859T>A ENST00000296677.4 + 2 633 c.427T>A c.(427-429)Tat>Aat p.Y143N NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 143 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CAACTGGATTTATGGGGAAGC 0.458000 120 429 0 0 0.014410 0 0 DDX27 55661 broad.mit.edu 37 20 47850207 47850207 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:47850207C>T ENST00000371764.4 + 11 1336 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 443 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CATCCGGATCCGGCCTAATCG 0.567000 10 73 0 0 0.006214 0 0 CARD11 84433 broad.mit.edu 37 7 2963913 2963913 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:2963913C>T ENST00000396946.4 - 15 2297 c.1894G>A c.(1894-1896)Gac>Aac p.D632N NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 632 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.D625N(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCTCCAGGTCGTAGGCATCC 0.592000 Mis DLBCL 6 35 0 0 0.001984 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471280 47471280 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:47471280C>T ENST00000266581.4 - 2 1972 c.1506G>A c.(1504-1506)ggG>ggA p.G502G AMIGO2_ENST00000321382.3_Silent_p.G502G|AMIGO2_ENST00000550413.1_Silent_p.G502G|AMIGO2_ENST00000429635.1_Silent_p.G502G NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 502 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) AGTCAGATTTCCCCCTCGTGG 0.463000 6 14 0 0 0.003080 0 0 MIR3654 100500804 broad.mit.edu 37 11 62349026 62349026 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:62349026C>T ENST00000496634.2 - 3 466 c.421G>A c.(421-423)Gga>Aga p.G141R TUT1_ENST00000476907.1_Missense_Mutation_p.G141R|TUT1_ENST00000308436.7_Missense_Mutation_p.G179R NS(1) 1 GGGGCCGCTCCTTTGGGGGAT 0.627000 9 27 0 0 0.006214 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691146 18691146 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:18691146G>A ENST00000433979.1 + 24 3373 c.3257G>A c.(3256-3258)gGg>gAg p.G1086E PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1086E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1127E NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1086 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ACAGAGGGTGGGAAAAACCCA 0.398000 12 53 0 0 0.013537 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307998 46307998 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:46307998C>T ENST00000221538.3 - 3 1307 c.1165G>A c.(1165-1167)Gag>Aag p.E389K RSPH6A_ENST00000600188.1_Missense_Mutation_p.E125K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E389K NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 389 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 ccctcctcctcgccgtgcgcc 0.672000 4 10 0 0 0.009096 0 0 KLHL4 56062 broad.mit.edu 37 X 86887243 86887243 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:86887243C>T ENST00000373119.4 + 7 1503 c.1358C>T c.(1357-1359)aCc>aTc p.T453I KLHL4_ENST00000373114.4_Missense_Mutation_p.T453I NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 453 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GACCTCAGGACCAACAGTTGG 0.388000 5 29 0 0 0.014758 0 0 DNAH9 1770 broad.mit.edu 37 17 11666926 11666926 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:11666926G>A ENST00000262442.3 + 36 7233 c.7165G>A c.(7165-7167)Gat>Aat p.D2389N DNAH9_ENST00000454412.2_Missense_Mutation_p.D2389N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2389 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AATGGTCCAAGATCAGGTAAG 0.463000 5 20 0 0 0.014758 0 0 CUL9 23113 broad.mit.edu 37 6 43155488 43155488 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:43155488C>T ENST00000252050.4 + 7 1703 c.1619C>T c.(1618-1620)tCc>tTc p.S540F CUL9_ENST00000372647.2_Missense_Mutation_p.S540F|CUL9_ENST00000354495.3_Missense_Mutation_p.S430F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 540 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ATCTCTGTGTCCGTGGAAATG 0.507000 39 86 0 0 0.014410 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969392 140969392 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:140969392C>T ENST00000298296.1 + 4 719 c.719C>T c.(718-720)tCc>tTc p.S240F MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 240 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCATTTCCCTGACAGAA 0.473000 19 85 0 0 0.007413 0 0 GABRA1 2554 broad.mit.edu 37 5 161292770 161292770 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:161292770C>T ENST00000428797.2 + 5 586 c.231C>T c.(229-231)ttC>ttT p.F77F GABRA1_ENST00000393943.4_Silent_p.F77F|GABRA1_ENST00000420560.1_Silent_p.F77F|GABRA1_ENST00000023897.6_Silent_p.F77F|GABRA1_ENST00000437025.2_Silent_p.F77F|GABRA1_ENST00000444819.1_Silent_p.F77F NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 77 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 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) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TCACCAGTTTCGGACCCGTTT 0.378000 12 96 0 0 0.028581 0 0 MYO3B 140469 broad.mit.edu 37 2 171256809 171256809 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:171256809G>A ENST00000334231.6 + 17 1930 c.1930G>A c.(1930-1932)Gaa>Aaa p.E644K MYO3B_ENST00000408978.4_Missense_Mutation_p.E635K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E635K|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 635 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCCCAATGCTGAAGCTTTGCA 0.398000 13 67 0 0 0.016723 0 0 SCN11A 11280 broad.mit.edu 37 3 38950535 38950535 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:38950535C>T ENST00000302328.3 - 9 1450 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K SCN11A_ENST00000456224.3_Missense_Mutation_p.E418K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E418K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E418K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 418 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AACATCTTTTCCTTGGCCTCT 0.512000 33 91 0 0 0.017118 0 0 CABIN1 23523 broad.mit.edu 37 22 24515511 24515511 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:24515511T>C ENST00000398319.2 + 28 4863 c.4478T>C c.(4477-4479)tTc>tCc p.F1493S CABIN1_ENST00000263119.5_Missense_Mutation_p.F1493S|CABIN1_ENST00000405822.2_Missense_Mutation_p.F1414S NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1493 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCAGTGGCCTTCCCCCAGGGG 0.667000 11 34 0 0 0.013537 0 0 KCND3 3752 broad.mit.edu 37 1 112524895 112524895 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:112524895C>T ENST00000369697.1 - 1 523 c.454G>A c.(454-456)Gac>Aac p.D152N KCND3_ENST00000302127.4_Missense_Mutation_p.D152N|KCND3_ENST00000315987.2_Missense_Mutation_p.D152N Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 152 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TTCTCCGAGTCGTTGTCGTCC 0.632000 5 16 0 0 0.014758 0 0 ST18 9705 broad.mit.edu 37 8 53073946 53073946 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:53073946G>A ENST00000276480.7 - 14 2266 c.1583C>T c.(1582-1584)cCa>cTa p.P528L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 528 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTCAGGAAATGGTGGTGTTTT 0.443000 9 46 0 0 0.010729 0 0 NOL8 55035 broad.mit.edu 37 9 95069259 95069259 + Missense_Mutation SNP T T G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:95069259T>G ENST00000545558.1 - 11 3226 c.2734A>C c.(2734-2736)Aaa>Caa p.K912Q NOL8_ENST00000358855.4_Missense_Mutation_p.K844Q|NOL8_ENST00000542053.1_Missense_Mutation_p.K844Q|NOL8_ENST00000535387.1_Missense_Mutation_p.K874Q|NOL8_ENST00000442668.2_Missense_Mutation_p.K912Q Q76FK4 NOL8_HUMAN nucleolar protein 8 912 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GCTTTCTTTTTTTCTTCAGCA 0.348000 16 46 0 0 0.024245 0 0 DYRK2 8445 broad.mit.edu 37 12 68052401 68052401 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:68052401T>C ENST00000344096.3 + 3 2127 c.1714T>C c.(1714-1716)Tca>Cca p.S572P DYRK2_ENST00000393555.3_Missense_Mutation_p.S499P NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 572 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) ACCTTCTAGCTCAGCTTCCAA 0.483000 30 136 0 0 0.008361 0 0 SCTR 6344 broad.mit.edu 37 2 120236447 120236447 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:120236447G>A ENST00000019103.5 - 3 508 c.241C>T c.(241-243)Ccg>Tcg p.P81S AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 81 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) ATCCGGCCCGGCACAGAAGAG 0.617000 8 42 0 0 0.004482 0 0 MEFV 4210 broad.mit.edu 37 16 3304734 3304734 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:3304734C>T ENST00000219596.1 - 2 373 c.334G>A c.(334-336)Gag>Aag p.E112K MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 112 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GGCTTGTTCTCCCCCAGGGAG 0.607000 9 36 0 0 0.008291 0 0 WHSC1 7468 broad.mit.edu 37 4 1902596 1902596 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:1902596C>T ENST00000503128.1 + 2 422 c.215C>T c.(214-216)cCc>cTc p.P72L WHSC1_ENST00000382891.5_Missense_Mutation_p.P72L|WHSC1_ENST00000382892.2_Missense_Mutation_p.P72L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P72L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P72L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P72L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P72L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P72L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P72L O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 72 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GACGCCCTGCCCTTTATTCCA 0.552000 T IGH@ MM 14 45 0 0 0.028581 0 0 LCK 3932 broad.mit.edu 37 1 32742299 32742299 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:32742299G>C ENST00000333070.4 + 9 976 c.876G>C c.(874-876)atG>atC p.M292I LCK_ENST00000373564.3_Missense_Mutation_p.M299I|LCK_ENST00000336890.5_Missense_Mutation_p.M292I NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 292 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding p.M299I(1)|p.M292I(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CCAACCTCATGAAGCAGCTGC 0.607000 T TRB@ T-ALL 4 32 0 0 0.021553 0 0 PDZD2 23037 broad.mit.edu 37 5 32101303 32101303 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:32101303G>A ENST00000438447.1 + 24 8699 c.8311G>A c.(8311-8313)Gtg>Atg p.V2771M PDZD2_ENST00000282493.3_Missense_Mutation_p.V2771M|PDZD2_ENST00000513490.1_3'UTR O15018 PDZD2_HUMAN PDZ domain containing 2 2771 PDZ 6. 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 AAAATCATCGGTGACGGGAGA 0.512000 7 26 0 0 0.001984 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475286 50475286 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:50475286G>A ENST00000602139.1 + 0 1232 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 AATGGAGCACGAAGGAGAGTT 0.677000 11 44 0 0 0.013537 0 0 XIST 7503 broad.mit.edu 37 X 73063933 73063933 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:73063933G>A ENST00000429829.1 - 0 8655 NR_001564.2 ACCCACTATTGAAAAGAGGTG 0.433000 18 49 0 0 0.006122 0 0 SNX29 92017 broad.mit.edu 37 16 12136810 12136810 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:12136810T>C ENST00000566228.1 + 5 373 c.304T>C c.(304-306)Ttc>Ctc p.F102L SNX29_ENST00000568359.1_3'UTR NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 GCTGCAGCGCTTCTACTCCCT 0.657000 7 27 0 0 0.003080 0 0 TRIM58 25893 broad.mit.edu 37 1 248023996 248023996 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:248023996A>C ENST00000366481.3 + 2 546 c.498A>C c.(496-498)aaA>aaC p.K166N NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 166 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACGTGGGGAAAAAGACTGTCA 0.478000 17 54 0 0 0.007413 0 0 USP26 83844 broad.mit.edu 37 X 132159888 132159888 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:132159888G>A ENST00000511190.1 - 6 2830 c.2361C>T c.(2359-2361)tcC>tcT p.S787S USP26_ENST00000370832.1_Silent_p.S787S|USP26_ENST00000406273.1_Silent_p.S787S NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 787 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GTGCAAGTAGGGAATTCCTGT 0.398000 14 76 0 0 0.028581 0 0 IFNA8 3445 broad.mit.edu 37 9 21409424 21409424 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:21409424G>A ENST00000380205.1 + 1 279 c.249G>A c.(247-249)atG>atA p.M83I NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 83 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TCCATGAGATGATCCAGCAGA 0.478000 22 47 0 0 0.014323 0 0 RNF25 64320 broad.mit.edu 37 2 219528774 219528774 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:219528774C>T ENST00000295704.2 - 10 1726 c.1286G>A c.(1285-1287)gGt>gAt p.G429D NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 429 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTAGGAAGAACCGGGTGTCCG 0.667000 26 105 0 0 0.024334 0 0 CTNND2 1501 broad.mit.edu 37 5 11346714 11346714 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:11346714G>A ENST00000304623.8 - 9 1587 c.1398C>T c.(1396-1398)tcC>tcT p.S466S CTNND2_ENST00000458100.2_Silent_p.S33S|CTNND2_ENST00000359640.2_Silent_p.S466S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.S129S|CTNND2_ENST00000511377.1_Silent_p.S375S NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 466 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCAAGGGGACGGAGTCGACAC 0.602000 6 20 0 0 0.001984 0 0 SH2B1 25970 broad.mit.edu 37 16 28883932 28883932 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:28883932C>T ENST00000337120.5 + 7 5094 c.1803C>T c.(1801-1803)ctC>ctT p.L601L SH2B1_ENST00000359285.5_Silent_p.L601L|SH2B1_ENST00000322610.8_Silent_p.L601L|SH2B1_ENST00000395532.4_Silent_p.L601L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Silent_p.L265L|SH2B1_ENST00000545570.1_Silent_p.L291L NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 601 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TCGATATGCTCGAGCACTTCC 0.612000 12 44 0 0 0.013537 0 0 PAPPA 5069 broad.mit.edu 37 9 119115031 119115031 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:119115031C>T ENST00000328252.3 + 16 4380 c.4011C>T c.(4009-4011)ttC>ttT p.F1337F PAPPA_ENST00000534838.1_Silent_p.F375F NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1337 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTGGTCCTTCCCAGAGGCCC 0.602000 11 28 0 0 0.010729 0 0 LST3 0 broad.mit.edu 37 12 21196405 21196405 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:21196405G>A ENST00000381541.3 + 7 930 c.865G>A c.(865-867)Gaa>Aaa p.E289K LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E289K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E242K ACCACAGAAAGAAAGGAAAGT 0.323000 5 29 0 0 0.021553 0 0 CLK1 1195 broad.mit.edu 37 2 201721506 201721506 + Missense_Mutation SNP G G A rs146248641 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:201721506G>A ENST00000434813.2 - 9 1416 c.1082C>T c.(1081-1083)cCa>cTa p.P361L CLK1_ENST00000321356.4_Missense_Mutation_p.P319L|CLK1_ENST00000409769.2_Missense_Mutation_p.P142L NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 319 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TTTAATATCTGGATTTATTAA 0.318000 9 30 0 0 0.004482 0 0 CD209 30835 broad.mit.edu 37 19 7808055 7808055 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:7808055T>A ENST00000315599.7 - 7 1107 c.1085A>T c.(1084-1086)aAt>aTt p.N362I CD209_ENST00000394161.5_Missense_Mutation_p.N126I|CD209_ENST00000354397.6_Missense_Mutation_p.N356I|CD209_ENST00000593660.1_Missense_Mutation_p.N292I|CD209_ENST00000602261.1_Missense_Mutation_p.N270I|CD209_ENST00000301357.8_Missense_Mutation_p.N226I|CD209_ENST00000315591.8_Missense_Mutation_p.N338I|CD209_ENST00000394173.4_Missense_Mutation_p.N201I|CD209_ENST00000601951.1_Missense_Mutation_p.N338I|CD209_ENST00000593821.1_Missense_Mutation_p.N226I|CD209_ENST00000204801.8_Missense_Mutation_p.N318I NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 362 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GTTCCAGCCATTGCCACTAAA 0.512000 52 161 0 0 0.014410 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882704 144882704 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:144882704G>A ENST00000369359.4 - 27 3764 c.3726C>T c.(3724-3726)ctC>ctT p.L1242L PDE4DIP_ENST00000530740.1_Silent_p.L1242L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.L1105L|PDE4DIP_ENST00000369356.4_Silent_p.L1105L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1105 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) GTTTTCCCTGGAGCTTTCTGA 0.478000 T PDGFRB MPD 36 173 0 0 0.025465 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142601967 142601967 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:142601967G>A ENST00000378004.3 + 23 2591 c.2236G>A c.(2236-2238)Gga>Aga p.G746R ARHGAP26_ENST00000274498.4_Missense_Mutation_p.G801R|ARHGAP26_ENST00000486650.1_3'UTR NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 801 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACTCTGAACGGAAAGACTGG 0.532000 6 46 0 0 0.003080 0 0 FGD6 55785 broad.mit.edu 37 12 95603337 95603337 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:95603337G>A ENST00000343958.4 - 2 1946 c.1723C>T c.(1723-1725)Ccc>Tcc p.P575S FGD6_ENST00000546711.1_Missense_Mutation_p.P575S|FGD6_ENST00000549499.1_Missense_Mutation_p.P575S NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 575 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 breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CCTGAAAAGGGTAAAATAGGA 0.463000 22 70 0 0 0.016522 0 0 FRMD7 90167 broad.mit.edu 37 X 131228139 131228139 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:131228139C>T ENST00000298542.4 - 5 488 c.313G>A c.(313-315)Gat>Aat p.D105N FRMD7_ENST00000464296.1_Missense_Mutation_p.D90N|FRMD7_ENST00000370879.1_5'UTR NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 105 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) AGAGCCAAATCCTTCTTTATT 0.393000 18 78 0 0 0.004990 0 0 TBC1D2 55357 broad.mit.edu 37 9 100983148 100983148 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:100983148G>A ENST00000375066.5 - 6 1432 c.1341C>T c.(1339-1341)ttC>ttT p.F447F TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Silent_p.F447F|TBC1D2_ENST00000342112.5_Silent_p.F229F NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 447 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GCTGGCTCAGGAAGTCCCTGT 0.642000 11 25 0 0 0.008291 0 0 GABRQ 55879 broad.mit.edu 37 X 151821286 151821286 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:151821286G>A ENST00000370306.2 + 9 1461 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 481 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.E481K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCTACCGAAATCCGCAA 0.547000 6 128 0 0 0.021553 0 0 WIPF1 7456 broad.mit.edu 37 2 175436728 175436728 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:175436728G>A ENST00000392547.2 - 5 904 c.805C>T c.(805-807)Cct>Tct p.P269S AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P269S|WIPF1_ENST00000409415.3_Missense_Mutation_p.P269S|WIPF1_ENST00000409891.1_Missense_Mutation_p.P269S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P269S|WIPF1_ENST00000359761.3_Missense_Mutation_p.P269S NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 269 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CCCACTGGAGGAGGTGGTGGA 0.662000 4 15 0 0 0.014758 0 0 IFT46 56912 broad.mit.edu 37 11 118428546 118428546 + Silent SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:118428546A>C ENST00000264020.2 - 4 482 c.105T>G c.(103-105)gtT>gtG p.V35V IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.V35V NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 15 Asp/Glu-rich (highly acidic). flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 GGGCAGGTGGAACAGGGTCCA 0.542000 27 111 0 0 0.008361 0 0 PREX2 80243 broad.mit.edu 37 8 68972915 68972915 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:68972915G>A ENST00000288368.4 + 11 1517 c.1238_splice c.e11-1 p.E414_splice PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 414 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.E414K(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTCTTGCAGCGAATTTGTGTC 0.418000 5 28 0 0 0.001984 0 0 CASP10 843 broad.mit.edu 37 2 202074178 202074178 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:202074178C>T ENST00000286186.6 + 9 1743 c.1308C>T c.(1306-1308)ttC>ttT p.F436F CASP10_ENST00000346817.5_Silent_p.F393F|CASP10_ENST00000272879.5_Silent_p.F436F|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Silent_p.F369F|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Silent_p.F393F NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 436 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AGGCTGACTTCCTACTTGGTC 0.517000 19 66 0 0 0.012319 0 0 AKR7A3 22977 broad.mit.edu 37 1 19612407 19612407 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:19612407C>T ENST00000361640.4 - 3 1022 c.482G>A c.(481-483)gGc>gAc p.G161D NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 161 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGGATCCAGCCGTTGCTCTT 0.602000 12 22 0 0 0.004990 0 0 PLG 5340 broad.mit.edu 37 6 161152095 161152095 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:161152095G>A ENST00000308192.9 + 11 1332 c.1269G>A c.(1267-1269)atG>atA p.M423I NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 423 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCCTGACAATGAACTACTGCA 0.483000 11 34 0 0 0.013537 0 0 AC015849.16 0 broad.mit.edu 37 17 34236539 34236539 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:34236539C>T ENST00000587132.1 - 0 1488 GGAGAAAGTTCAATTTCTGTA 0.483000 5 17 0 0 0.014758 0 0 TAS2R42 353164 broad.mit.edu 37 12 11339169 11339169 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:11339169C>T ENST00000334266.1 - 1 374 c.375G>A c.(373-375)agG>agA p.R125R NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 125 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) TTCCGTTCATCCTCCACCTCA 0.383000 4 18 0 0 0.009096 0 0 WDR65 149465 broad.mit.edu 37 1 43652402 43652402 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:43652402G>A ENST00000372492.4 + 6 1318 c.994G>A c.(994-996)Gat>Aat p.D332N WDR65_ENST00000528956.1_Missense_Mutation_p.D332N NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 332 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCAGAGCAATGATCCAAGTCA 0.488000 13 44 0 0 0.024245 0 0 OR11G2 390439 broad.mit.edu 37 14 20665930 20665930 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:20665930G>A ENST00000357366.3 + 1 436 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTTCTCCTTGGGCTCTACAGA 0.502000 4 33 0 0 0.009096 0 0 BMPER 168667 broad.mit.edu 37 7 34118566 34118566 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:34118566A>T ENST00000297161.2 + 13 1550 c.1176A>T c.(1174-1176)aaA>aaT p.K392N BMPER_ENST00000426693.1_Missense_Mutation_p.K392N NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 392 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TTTTGACAAAAGACTGCTCCT 0.582000 15 73 0 0 0.028581 0 0 RSF1 51773 broad.mit.edu 37 11 77412910 77412910 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:77412910A>T ENST00000308488.6 - 6 1666 c.1364T>A c.(1363-1365)tTt>tAt p.F455Y RSF1_ENST00000360355.2_Missense_Mutation_p.F424Y|RSF1_ENST00000480887.1_Missense_Mutation_p.F203Y Q96T23 RSF1_HUMAN remodeling and spacing factor 1 455 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TTCTGTCTTAAAATTTGGAGC 0.408000 9 41 0 0 0.004482 0 0 CDCA2 157313 broad.mit.edu 37 8 25361032 25361032 + Silent SNP C C T rs76687559 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:25361032C>T ENST00000330560.3 + 14 2292 c.1815C>T c.(1813-1815)tcC>tcT p.S605S CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.S590S NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 605 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TGACACCTTCCATTCCGAGCA 0.428000 25 67 0 0 0.010818 0 0 TRAV34 28648 broad.mit.edu 37 14 22675966 22675966 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:22675966C>T ENST00000390461.2 + 0 290 CAGCAAAGTTCCCTGCATATC 0.488000 12 40 0 0 0.020292 0 0 NUAK2 81788 broad.mit.edu 37 1 205272979 205272979 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:205272979G>A ENST00000367157.3 - 7 1612 c.1486C>T c.(1486-1488)Ctc>Ttc p.L496F NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 496 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TTGCGATGGAGGAGCAGCCCT 0.617000 15 39 0 0 0.006122 0 0 HPX 3263 broad.mit.edu 37 11 6461515 6461515 + Splice_Site SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:6461515C>T ENST00000265983.3 - 4 316 c.214_splice c.e4-1 p.G72_splice HPX_ENST00000525057.1_5'UTR NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 72 Hemopexin-like 1. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) ACACAAACTCCCCTGAAAAAA 0.483000 7 37 0 0 0.004482 0 0 RP1 6101 broad.mit.edu 37 8 55539794 55539794 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:55539794C>T ENST00000220676.1 + 4 3500 c.3352C>T c.(3352-3354)Cat>Tat p.H1118Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1118 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGTTCCCTTTCATTCTGCAAT 0.423000 4 32 0 0 0.021553 0 0 GFRA3 2676 broad.mit.edu 37 5 137593625 137593625 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:137593625A>C ENST00000274721.3 - 4 734 c.488T>G c.(487-489)cTc>cGc p.L163R GFRA3_ENST00000378362.3_Missense_Mutation_p.L132R NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 163 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GGCAAACTTGAGGCAGAGGTC 0.652000 4 17 0 0 0.014758 0 0 KDM3B 51780 broad.mit.edu 37 5 137754723 137754723 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:137754723C>T ENST00000314358.5 + 14 3717 c.3517C>T c.(3517-3519)Cca>Tca p.P1173S KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Missense_Mutation_p.P205S|KDM3B_ENST00000394866.1_Missense_Mutation_p.P829S NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1173 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AGTAACAACTCCAGAGCCGGA 0.488000 4 44 0 0 0.009096 0 0 TLE3 7090 broad.mit.edu 37 15 70348702 70348702 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:70348702G>A ENST00000558939.1 - 14 2649 c.1272C>T c.(1270-1272)gaC>gaT p.D424D TLE3_ENST00000440567.3_Silent_p.D414D|TLE3_ENST00000558201.1_Silent_p.D430D|TLE3_ENST00000451782.2_Silent_p.D421D|TLE3_ENST00000559191.1_Silent_p.D5D|TLE3_ENST00000559929.1_Silent_p.D434D|TLE3_ENST00000560589.1_Silent_p.D368D|TLE3_ENST00000557997.1_Silent_p.D416D|TLE3_ENST00000559048.1_Silent_p.D424D|TLE3_ENST00000557907.1_Silent_p.D416D|TLE3_ENST00000560939.1_Silent_p.D426D|TLE3_ENST00000558379.1_Silent_p.D419D|TLE3_ENST00000442299.2_Silent_p.D416D|TLE3_ENST00000317509.8_Silent_p.D412D|TLE3_ENST00000539550.1_Silent_p.D351D Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 424 Pro/Ser-rich. 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 GGGGGTGAGGGTCAAAACCAA 0.607000 21 89 0 0 0.014323 0 0 KCNV1 27012 broad.mit.edu 37 8 110980682 110980682 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:110980682G>A ENST00000524391.1 - 4 2170 c.1138C>T c.(1138-1140)Cct>Tct p.P380S KCNV1_ENST00000297404.1_Missense_Mutation_p.P380S Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 380 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CATGCACAAGGGACACTTGTG 0.478000 11 48 0 0 0.010729 0 0 ABCC12 94160 broad.mit.edu 37 16 48174679 48174679 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:48174679G>A ENST00000311303.3 - 4 921 c.576C>T c.(574-576)atC>atT p.I192I ABCC12_ENST00000416054.1_Silent_p.I192I|ABCC12_ENST00000448542.1_Silent_p.I192I NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 192 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCTTCAACCGGATGGCCGTGC 0.532000 11 71 0 0 0.008291 0 0 SOX30 11063 broad.mit.edu 37 5 157065541 157065541 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:157065541G>A ENST00000265007.6 - 4 1918 c.1577C>T c.(1576-1578)tCt>tTt p.S526F SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.S221F NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 526 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTGGCTTCAGAATGCAGCTG 0.527000 6 29 0 0 0.021553 0 0 GAP43 2596 broad.mit.edu 37 3 115394989 115394989 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:115394989G>A ENST00000393780.3 + 3 736 c.268G>A c.(268-270)Gag>Aag p.E90K GAP43_ENST00000305124.6_Missense_Mutation_p.E54K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 54 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GCTCAAAGGAGAGAAGAAGGA 0.473000 9 25 0 0 0.004482 0 0 COG1 9382 broad.mit.edu 37 17 71202924 71202924 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:71202924T>A ENST00000299886.4 + 12 2777 c.2697T>A c.(2695-2697)caT>caA p.H899Q NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 899 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) AAGAACCCCATAACATCCTGC 0.572000 5 27 0 0 0.014758 0 0 DNAH9 1770 broad.mit.edu 37 17 11696952 11696952 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:11696952C>T ENST00000262442.3 + 42 8262 c.8194C>T c.(8194-8196)Cag>Tag p.Q2732* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q2732* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2732 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGATAAAATCCAGACAGAAGT 0.328000 4 42 0 0 0.014758 0 0 CES3 23491 broad.mit.edu 37 16 67003606 67003606 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:67003606G>A ENST00000303334.4 + 9 1158 c.1087G>A c.(1087-1089)Gag>Aag p.E363K CES3_ENST00000394037.1_Missense_Mutation_p.E363K|CES3_ENST00000543856.1_Missense_Mutation_p.E2K NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 363 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGATACAATGGAGCAGATGAG 0.627000 4 11 0 0 0.009096 0 0 USP34 9736 broad.mit.edu 37 2 61484347 61484347 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:61484347G>A ENST00000398571.2 - 45 6059 c.5983C>T c.(5983-5985)Ccc>Tcc p.P1995S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1995 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACCAGTTCGGGAGACATTTCT 0.313000 10 36 0 0 0.008291 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187807 37187807 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:37187807G>A ENST00000425901.2 + 0 1649 NR_033753.2 GCACCCTAAAGTGACACTTCC 0.478000 17 66 0 0 0.007413 0 0 DSP 1832 broad.mit.edu 37 6 7571716 7571716 + Missense_Mutation SNP G G C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:7571716G>C ENST00000379802.3 + 14 2143 c.1802G>C c.(1801-1803)gGa>gCa p.G601A DSP_ENST00000418664.2_Missense_Mutation_p.G601A NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 601 Globular 1. 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) GAGATGTTTGGAGATGATGAC 0.478000 4 156 0 0 0.014758 0 0 PCLO 27445 broad.mit.edu 37 7 82579080 82579080 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:82579080G>A ENST00000423517.2 - 6 11161 c.10824C>T c.(10822-10824)tcC>tcT p.S3608S PCLO_ENST00000333891.8_Silent_p.S3608S|PCLO_ENST00000437081.1_Silent_p.S328S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3539 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTGTACTGTGGAATCTGCCC 0.493000 13 40 0 0 0.013537 0 0 PPRC1 23082 broad.mit.edu 37 10 103900969 103900969 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:103900969C>T ENST00000278070.2 + 5 2743 c.2704C>T c.(2704-2706)Ctt>Ttt p.L902F PPRC1_ENST00000413464.2_Missense_Mutation_p.L902F NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 902 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCTCCTAGTCTTCCATTGTC 0.592000 10 33 0 0 0.008291 0 0 LMX1A 4009 broad.mit.edu 37 1 165218718 165218718 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:165218718C>T ENST00000342310.3 - 4 805 c.423G>A c.(421-423)caG>caA p.Q141Q LMX1A_ENST00000294816.2_Silent_p.Q141Q|LMX1A_ENST00000367893.4_Silent_p.Q141Q NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 141 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TGCAGAGCAGCTGCCCCTCCT 0.607000 17 41 0 0 0.006122 0 0 NEK11 79858 broad.mit.edu 37 3 130947488 130947488 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:130947488A>T ENST00000383366.4 + 15 1809 c.1516A>T c.(1516-1518)Atc>Ttc p.I506F NEK11_ENST00000429253.2_Missense_Mutation_p.I506F|NEK11_ENST00000510769.1_Missense_Mutation_p.I401F|NEK11_ENST00000510688.1_Missense_Mutation_p.I506F|NEK11_ENST00000508196.1_Missense_Mutation_p.I506F|NEK11_ENST00000412440.2_Missense_Mutation_p.I322F NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 506 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AGAGAAAGAAATCAGGAATGA 0.448000 6 27 0 0 0.003080 0 0 UGT2B15 7366 broad.mit.edu 37 4 69512954 69512954 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:69512954G>A ENST00000338206.5 - 6 1470 c.1461C>T c.(1459-1461)atC>atT p.I487I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 487 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity AGTGGTACTGGATCCAGGTGA 0.488000 13 60 0 0 0.013537 0 0 TBX18 9096 broad.mit.edu 37 6 85472362 85472362 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:85472362G>A ENST00000369663.5 - 2 734 c.397C>T c.(397-399)Ctg>Ttg p.L133L TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 133 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGCGAGGGCAGAGGGGTCCCG 0.697000 7 26 0 0 0.001984 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907759 164907759 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:164907759G>A ENST00000475390.1 - 2 1303 c.860C>T c.(859-861)tCt>tTt p.S287F SLITRK3_ENST00000241274.3_Missense_Mutation_p.S287F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 287 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCTACCTCAGAGTCAGACAA 0.473000 HNSCC(40;0.11) 17 62 0 0 0.007413 0 0 RP1L1 94137 broad.mit.edu 37 8 10468325 10468325 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:10468325C>T ENST00000382483.3 - 4 3506 c.3283G>A c.(3283-3285)Ggc>Agc p.G1095S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1095 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGGGCCGGCCCTGCTTGGAG 0.662000 19 50 0 0 0.007413 0 0 TTLL3 26140 broad.mit.edu 37 3 9867622 9867622 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:9867622C>T ENST00000383827.1 + 2 2509 c.228C>T c.(226-228)tcC>tcT p.S76S TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Silent_p.S76S|TTLL3_ENST00000547186.1_Silent_p.S288S|TTLL3_ENST00000397241.1_Silent_p.S76S|TTLL3_ENST00000426895.4_Silent_p.S431S|TTLL3_ENST00000427853.3_Silent_p.S76S|ARPC4-TTLL3_ENST00000397256.1_Silent_p.S349S|TTLL3_ENST00000455274.1_Silent_p.S76S Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 288 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) GAGCCAAGTCCCGCGGACGAG 0.582000 3 18 0 0 0.009096 0 0 PPARG 5468 broad.mit.edu 37 3 12458497 12458497 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:12458497G>A ENST00000397026.2 + 8 1431 c.1048G>A c.(1048-1050)Ggc>Agc p.G350S PPARG_ENST00000397010.2_Missense_Mutation_p.G344S|PPARG_ENST00000287820.6_Missense_Mutation_p.G372S|PPARG_ENST00000309576.6_Missense_Mutation_p.G344S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.G344S|PPARG_ENST00000397015.2_Missense_Mutation_p.G344S|PPARG_ENST00000397000.1_Intron P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 372 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CATATCCGAGGGCCAAGGCTT 0.453000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 79 310 0 0 0.014410 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39109233 39109233 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:39109233C>T ENST00000297668.6 - 15 2362 c.2289G>A c.(2287-2289)caG>caA p.Q763Q CNTNAP3_ENST00000377656.2_Silent_p.Q762Q|CNTNAP3_ENST00000358144.2_Silent_p.Q675Q NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 763 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCATCACAATCTGAGTGACTG 0.463000 3 8 0 0 0.004672 0 0 ZNF514 84874 broad.mit.edu 37 2 95815990 95815990 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:95815990G>A ENST00000295208.2 - 5 702 c.240C>T c.(238-240)tcC>tcT p.S80S ZNF514_ENST00000411425.1_Silent_p.S80S NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TTGATTCCTTGGATTTAGACC 0.353000 37 59 0 0 0.019004 0 0 EML1 2009 broad.mit.edu 37 14 100344868 100344868 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:100344868C>T ENST00000262233.6 + 4 569 c.430C>T c.(430-432)Cga>Tga p.R144* EML1_ENST00000334192.4_Nonsense_Mutation_p.R163*|EML1_ENST00000327921.9_Nonsense_Mutation_p.R132*|EML1_ENST00000556758.1_3'UTR NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 144 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCCTGGGGGTCGAAGGGAAAG 0.483000 13 74 0 0 0.013537 0 0 MCF2L2 23101 broad.mit.edu 37 3 182937681 182937681 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:182937681A>C ENST00000328913.3 - 21 2630 c.2333T>G c.(2332-2334)aTg>aGg p.M778R MCF2L2_ENST00000473233.1_Missense_Mutation_p.M778R NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 778 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTCTATCTCCATATCTTCAGG 0.363000 5 45 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179641297 179641297 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:179641297C>T ENST00000589042.1 - 28 5518 c.5294G>A c.(5293-5295)gGc>gAc p.G1765D TTN_ENST00000342175.6_Missense_Mutation_p.G1719D|TTN_ENST00000342992.6_Missense_Mutation_p.G1765D|TTN_ENST00000359218.5_Missense_Mutation_p.G1719D|TTN_ENST00000360870.5_Missense_Mutation_p.G1765D|TTN_ENST00000591111.1_Missense_Mutation_p.G1765D|TTN_ENST00000460472.2_Missense_Mutation_p.G1719D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1518 Ig-like 8. 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) ATATGCAACGCCATAATCAAG 0.443000 10 25 0 0 0.008291 0 0 SCEL 8796 broad.mit.edu 37 13 78167696 78167696 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:78167696G>A ENST00000535157.1 + 11 844 c.674G>A c.(673-675)aGa>aAa p.R225K SCEL_ENST00000349847.3_Missense_Mutation_p.R247K|SCEL_ENST00000377246.3_Intron NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 247 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TCACTTCAGAGAAGTGACAAA 0.373000 8 12 0 0 0.008291 0 0 OR4A16 81327 broad.mit.edu 37 11 55111031 55111031 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:55111031G>A ENST00000314721.2 + 1 405 c.355G>A c.(355-357)Gat>Aat p.D119N NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 119 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 GATGGCCTATGATCGCTATGT 0.458000 18 109 0 0 0.008871 0 0 PTGER2 5732 broad.mit.edu 37 14 52781333 52781333 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:52781333G>A ENST00000245457.5 + 1 221 c.67G>A c.(67-69)Gaa>Aaa p.E23K PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 23 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TCCCCCAGGCGAAAGCCCAGC 0.667000 3 15 0 0 0.004672 0 0 SYT17 51760 broad.mit.edu 37 16 19278239 19278239 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:19278239C>T ENST00000562034.1 + 6 4881 c.1083C>T c.(1081-1083)atC>atT p.I361I SYT17_ENST00000568433.1_Silent_p.I116I|SYT17_ENST00000355377.2_Silent_p.I422I|SYT17_ENST00000562711.2_Silent_p.I418I Q9BSW7 SYT17_HUMAN synaptotagmin XVII 422 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 ATGACTTCATCGGGAGGATCG 0.577000 15 30 0 0 0.007413 0 0 STARD13 90627 broad.mit.edu 37 13 33700224 33700224 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:33700224G>A ENST00000336934.5 - 7 2192 c.2076C>T c.(2074-2076)ctC>ctT p.L692L STARD13_ENST00000399365.3_Silent_p.L574L|STARD13_ENST00000255486.4_Silent_p.L684L NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 692 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding p.L692L(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTACCTGATCGAGGCAGTTGC 0.552000 11 47 0 0 0.008291 0 0 CRLF3 51379 broad.mit.edu 37 17 29120513 29120513 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:29120513G>A ENST00000324238.6 - 5 905 c.781C>T c.(781-783)Cct>Tct p.P261S CRLF3_ENST00000544695.1_Missense_Mutation_p.P145S|CRLF3_ENST00000577725.1_Intron NM_015986.3 NP_057070.3 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 261 Fibronectin type-III. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) ACACTCCAAGGACTCCACTCC 0.468000 9 46 0 0 0.010729 0 0 CDR1 1038 broad.mit.edu 37 X 139866447 139866447 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:139866447C>T ENST00000370532.2 - 1 276 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 29 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GGTACGTCTTCCAACAAAGGT 0.443000 40 158 0 0 0.013114 0 0 KLHL13 90293 broad.mit.edu 37 X 117043931 117043931 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:117043931C>T ENST00000371876.1 - 4 2967 c.546G>A c.(544-546)ttG>ttA p.L182L KLHL13_ENST00000371878.1_Silent_p.L182L|KLHL13_ENST00000539496.1_Silent_p.L236L|KLHL13_ENST00000371882.1_Silent_p.L182L|KLHL13_ENST00000469946.1_Silent_p.L182L|KLHL13_ENST00000541812.1_Silent_p.L217L|KLHL13_ENST00000262820.3_Silent_p.L233L|KLHL13_ENST00000545703.1_Silent_p.L191L|KLHL13_ENST00000540167.1_Silent_p.L217L Q9P2N7 KLH13_HUMAN kelch-like family member 13 233 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AAGGGAGTTTCAAGAACTCCC 0.458000 23 73 0 0 0.016522 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:19748188G>A ENST00000400113.3 - 5 1272 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 390 '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) TGGTCCAGGCGAGCCCAGGCC 0.647000 10 54 0 0 0.008291 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279924 53279924 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:53279924G>A ENST00000396435.3 - 5 2034 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C IQSEC2_ENST00000375368.5_Missense_Mutation_p.R602C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R407C NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 602 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 ACAGAGCCGCGATCTGAGCGG 0.652000 5 13 0 0 0.021553 0 0 TRPS1 7227 broad.mit.edu 37 8 116599243 116599243 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:116599243G>A ENST00000395715.3 - 5 3262 c.2685C>T c.(2683-2685)tcC>tcT p.S895S TRPS1_ENST00000519674.1_Silent_p.S882S|TRPS1_ENST00000519076.1_Silent_p.S636S|TRPS1_ENST00000520276.1_Silent_p.S886S|TRPS1_ENST00000220888.5_Silent_p.S882S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 882 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACAGGGACTGGGATTCATCCT 0.498000 Langer-Giedion syndrome 20 62 0 0 0.010504 0 0 PUS1 80324 broad.mit.edu 37 12 132426184 132426184 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:132426184G>T ENST00000542167.2 + 4 1486 c.733G>T c.(733-735)Gtc>Ttc p.V245F PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.V270F|PUS1_ENST00000376649.3_Missense_Mutation_p.V298F|PUS1_ENST00000443358.2_Missense_Mutation_p.V270F Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 298 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCGGAAGATGGTCGGCCTGGT 0.617000 21 68 3.8784e-16 4.3026e-16 0.012319 1 0 FAM193A 8603 broad.mit.edu 37 4 2702142 2702142 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:2702142C>T ENST00000324666.5 + 17 3721 c.3370C>T c.(3370-3372)Cct>Tct p.P1124S FAM193A_ENST00000502458.1_Missense_Mutation_p.P1146S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P1124S|FAM193A_ENST00000545951.1_Missense_Mutation_p.P1124S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P1124S NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1124 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AAACCCAACCCCTATGGAGCC 0.473000 6 26 0 0 0.001984 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286633 55286633 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:55286633T>C ENST00000336077.6 + 4 427 c.387T>C c.(385-387)ccT>ccC p.P129P KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.P129P|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 129 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ATGAGAAACCTTCTCTCTCAG 0.547000 28 79 0 0 0.027894 0 0 CSDE1 7812 broad.mit.edu 37 1 115272906 115272906 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:115272906G>A ENST00000438362.2 - 12 1845 c.1467C>T c.(1465-1467)acC>acT p.T489T CSDE1_ENST00000358528.4_Silent_p.T443T|CSDE1_ENST00000534699.1_Silent_p.T443T|CSDE1_ENST00000530886.1_Silent_p.T313T|CSDE1_ENST00000339438.6_Silent_p.T412T|CSDE1_ENST00000261443.5_Silent_p.T412T|CSDE1_ENST00000369530.1_Silent_p.T458T NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 443 CSD 6. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) TTGGGCTAGTGGTTTTAGGAT 0.378000 4 57 0 0 0.014758 0 0 SLC17A9 63910 broad.mit.edu 37 20 61595633 61595633 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:61595633C>T ENST00000370349.3 + 9 1062 c.858C>T c.(856-858)ttC>ttT p.F286F SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.F292F Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 292 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCAGTCTATTCAGCGGGTTTC 0.622000 6 222 0 0 0.003080 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:97326937G>A ENST00000328504.3 + 1 319 c.52G>A c.(52-54)Gaa>Aaa p.E18K SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 7 41 0 0 0.001984 0 0 LAD1 3898 broad.mit.edu 37 1 201354881 201354881 + Missense_Mutation SNP C C T rs143101113 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:201354881C>T ENST00000391967.2 - 4 1380 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q LAD1_ENST00000367313.3_Missense_Mutation_p.R374Q NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 360 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GCTGTAGGTTCGCTGTGTGGG 0.597000 OREG0014078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 106 0 0 0.009535 0 0 DSP 1832 broad.mit.edu 37 6 7570790 7570790 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:7570790C>T ENST00000379802.3 + 13 2036 c.1695C>T c.(1693-1695)atC>atT p.I565I DSP_ENST00000418664.2_Silent_p.I565I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 565 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. 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) CCATGACAATCGCCAAGGTAT 0.557000 15 71 0 0 0.028581 0 0 ZNF594 84622 broad.mit.edu 37 17 5087335 5087335 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:5087335G>A ENST00000399604.4 - 1 357 c.217C>T c.(217-219)Ccc>Tcc p.P73S ZNF594_ENST00000575779.1_Missense_Mutation_p.P73S Q96JF6 ZN594_HUMAN zinc finger protein 594 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GCTTTCTGGGGGATAATATGC 0.448000 8 53 0 0 0.004482 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535692 69535692 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:69535692C>T ENST00000338206.5 - 1 654 c.645G>A c.(643-645)atG>atA p.M215I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 215 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GCATATGTATCATATTTTTTA 0.343000 24 72 0 0 0.014323 0 0 OR4C46 119749 broad.mit.edu 37 11 51515284 51515284 + Translation_Start_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:51515284G>A ENST00000328188.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AGAAATACATGGAGAATAGGA 0.274000 5 32 0 0 0.001984 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:141673292G>A ENST00000547270.1 - 1 281 c.198C>T c.(196-198)ttC>ttT p.F66F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 66 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTCCATGCAGGAAAAGCCGGC 0.493000 21 56 0 0 0.008871 0 0 UGT2A2 574537 broad.mit.edu 37 4 70504997 70504997 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:70504997C>T ENST00000457664.2 - 1 361 c.362G>A c.(361-363)gGa>gAa p.G121E UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron NM_001105677.2 NP_001099147.2 TAGAAGTTTTCCTAGTTCTTT 0.363000 14 56 0 0 0.020292 0 0 NBPF15 284565 broad.mit.edu 37 1 148591246 148591246 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:148591246G>A ENST00000442702.2 + 17 2378 c.1311G>A c.(1309-1311)caG>caA p.Q437Q NBPF15_ENST00000369187.3_Silent_p.Q437Q|NBPF15_ENST00000464336.2_3'UTR NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 437 NBPF 4. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AAGTCTTGCAGGACTCACTGG 0.463000 10 53 0 0 0.024245 0 0 MSANTD2 79684 broad.mit.edu 37 11 124637187 124637187 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:124637187G>A ENST00000526629.1 - 3 2322 c.875C>T c.(874-876)tCc>tTc p.S292F MSANTD2_ENST00000374979.3_Missense_Mutation_p.S522F|MSANTD2_ENST00000239614.4_Missense_Mutation_p.S470F Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 522 GGATTTGGGGGAAACTCCGGG 0.408000 10 53 0 0 0.010729 0 0 XKR3 150165 broad.mit.edu 37 22 17264938 17264938 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:17264938G>A ENST00000331428.5 - 4 1053 c.951C>T c.(949-951)atC>atT p.I317I NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 317 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) AGGAGAAGTTGATGGCAGCAT 0.443000 5 42 0 0 0.001984 0 0 PCBP4 57060 broad.mit.edu 37 3 51994051 51994051 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:51994051G>A ENST00000395014.2 - 2 438 c.439C>T c.(439-441)Ctc>Ttc p.L147F PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000484633.1_Intron P57723 PCBP4_HUMAN poly(rC) binding protein 4 128 KH 2. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGCAAACAGAGAACAGGGGCC 0.602000 15 29 0 0 0.024245 0 0 TGM3 7053 broad.mit.edu 37 20 2312688 2312688 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr20:2312688G>A ENST00000381458.5 + 10 1437 c.1374G>A c.(1372-1374)ggG>ggA p.G458G NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 458 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AGGCTTTGGGGAAACTTAAAC 0.527000 8 35 0 0 0.004482 0 0 TLN2 83660 broad.mit.edu 37 15 63029239 63029239 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:63029239C>T ENST00000561311.1 + 28 3751 c.3521C>T c.(3520-3522)gCc>gTc p.A1174V TLN2_ENST00000306829.6_Missense_Mutation_p.A1174V|TLN2_ENST00000559908.1_3'UTR Q9Y4G6 TLN2_HUMAN talin 2 1174 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCCAAGCAGGCCCTGATTGCA 0.552000 4 36 0 0 0.014758 0 0 ITGB8 3696 broad.mit.edu 37 7 20421377 20421377 + Nonsense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:20421377A>T ENST00000222573.3 + 6 1513 c.829A>T c.(829-831)Aaa>Taa p.K277* ITGB8_ENST00000537992.1_Nonsense_Mutation_p.K142* NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 277 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AAAAGAGGCTAAAAGATTGCT 0.403000 15 26 0 0 0.024245 0 0 EYA4 2070 broad.mit.edu 37 6 133703567 133703567 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:133703567C>T ENST00000367895.5 + 3 535 c.71C>T c.(70-72)tCt>tTt p.S24F EYA4_ENST00000355286.6_Missense_Mutation_p.S24F|EYA4_ENST00000430974.2_Missense_Mutation_p.S24F|EYA4_ENST00000525849.1_Missense_Mutation_p.S24F|EYA4_ENST00000452339.2_Missense_Mutation_p.S24F|EYA4_ENST00000531901.1_Missense_Mutation_p.S24F|EYA4_ENST00000355167.3_Missense_Mutation_p.S24F|EYA4_ENST00000431403.2_Missense_Mutation_p.S24F NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 24 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GTTTCACAATCTCAGAATTCC 0.378000 31 93 0 0 0.015359 0 0 FGF13 2258 broad.mit.edu 37 X 137717626 137717626 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:137717626G>A ENST00000315930.6 - 4 1254 c.593C>T c.(592-594)cCa>cTa p.P198L FGF13_ENST00000305414.4_Missense_Mutation_p.P145L|FGF13_ENST00000370603.3_Missense_Mutation_p.P208L|FGF13_ENST00000541469.1_Missense_Mutation_p.P152L|FGF13_ENST00000441825.2_Missense_Mutation_p.P179L NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 198 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) ACCTTTCAGTGGTTTAGGCAG 0.388000 21 65 0 0 0.014323 0 0 DGCR5 26220 broad.mit.edu 37 22 18979491 18979491 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:18979491C>T ENST00000438934.1 + 0 2842 DGCR5_ENST00000440005.2_RNA TGGAACCATTCCCTGGCGTAA 0.582000 5 17 0 0 0.014758 0 0 PPP6C 5537 broad.mit.edu 37 9 127915952 127915952 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr9:127915952G>A ENST00000451402.1 - 7 860 c.640C>T c.(640-642)Cga>Tga p.R214* PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R155*|PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R177*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.R30* NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 177 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TCGATGGTTCGAATTTGATCC 0.408000 5 14 0 0 0.001984 0 0 ISL1 3670 broad.mit.edu 37 5 50680437 50680437 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:50680437A>T ENST00000230658.7 + 2 676 c.91A>T c.(91-93)Agg>Tgg p.R31W ISL1_ENST00000511384.1_Missense_Mutation_p.R31W NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 31 LIM zinc-binding 1. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GTATATTCTGAGGGTTTCTCC 0.408000 11 56 0 0 0.010729 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967416 41967416 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:41967416G>A ENST00000298919.7 + 10 2443 c.2055G>A c.(2053-2055)gaG>gaA p.E685E PDZRN4_ENST00000539469.2_Silent_p.E687E|PDZRN4_ENST00000402685.2_Silent_p.E945E Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 945 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCAAAGAGGAGAGAAAGCAGC 0.552000 6 21 0 0 0.003080 0 0 OTUD4 54726 broad.mit.edu 37 4 146062615 146062615 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:146062615G>A ENST00000454497.2 - 19 1941 c.1804C>T c.(1804-1806)Cct>Tct p.P602S OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.P667S NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 666 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GGAAACCCAGGATAGAGTGGG 0.478000 13 45 0 0 0.016723 0 0 C1orf106 55765 broad.mit.edu 37 1 200869256 200869256 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:200869256G>A ENST00000367342.4 + 4 660 c.460G>A c.(460-462)Gag>Aag p.E154K C1orf106_ENST00000413687.2_Missense_Mutation_p.E69K NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 154 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTTGCCAGCGGAGTATCCCCT 0.622000 4 15 0 0 0.009096 0 0 PNPLA5 150379 broad.mit.edu 37 22 44287012 44287012 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:44287012G>A ENST00000216177.4 - 2 488 c.356C>T c.(355-357)tCg>tTg p.S119L PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000597664.1_Missense_Mutation_p.S119L NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 119 Patatin. lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GCGGGTCAGCGAAATGCCCAG 0.687000 11 25 0 0 0.020292 0 0 FAT4 79633 broad.mit.edu 37 4 126370209 126370209 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:126370209G>A ENST00000394329.3 + 9 8051 c.8038G>A c.(8038-8040)Gaa>Aaa p.E2680K FAT4_ENST00000335110.5_Missense_Mutation_p.E978K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2680 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAAATATTGGAAAACCTTTC 0.373000 8 73 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152841601 152841601 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:152841601C>T ENST00000367255.5 - 6 903 c.302G>A c.(301-303)gGa>gAa p.G101E SYNE1_ENST00000466159.2_Missense_Mutation_p.G101E|SYNE1_ENST00000367248.3_Missense_Mutation_p.G101E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G101E|SYNE1_ENST00000367253.4_Missense_Mutation_p.G101E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G101E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G101E|SYNE1_ENST00000413186.2_Missense_Mutation_p.G101E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G101E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 101 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TACCTTTCTTCCTTCGAGGAA 0.453000 HNSCC(10;0.0054) 26 76 0 0 0.012213 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140935 143140935 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:143140935C>T ENST00000332690.1 + 1 390 c.390C>T c.(388-390)ttC>ttT p.F130F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 130 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACCCTGTCTTCTTCTGGCTAA 0.493000 33 93 0 0 0.025465 0 0 CBS 875 broad.mit.edu 37 21 44492159 44492159 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr21:44492159G>A ENST00000398165.3 - 3 404 c.145C>T c.(145-147)Ccg>Tcg p.P49S CBS_ENST00000398158.1_Missense_Mutation_p.P49S|CBS_ENST00000398168.1_Missense_Mutation_p.P49S|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Missense_Mutation_p.P49S|CBS_ENST00000352178.5_Missense_Mutation_p.P49S NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 49 P -> L (in CBSD). cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CACCTGCTCGGAGCATCGGGC 0.657000 61 196 0 0 0.014410 0 0 RBBP6 5930 broad.mit.edu 37 16 24580295 24580295 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:24580295C>T ENST00000319715.4 + 17 2716 c.2284C>T c.(2284-2286)Cct>Tct p.P762S RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P728S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 762 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAGGTCACCCCCTTACAGACG 0.483000 4 27 0 0 0.009096 0 0 RGPD3 653489 broad.mit.edu 37 2 107084678 107084678 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:107084678G>A ENST00000409886.3 - 1 154 c.67C>T c.(67-69)Cga>Tga p.R23* RGPD3_ENST00000304514.7_Nonsense_Mutation_p.R23* NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 23 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTCACCTTTCGAGGCGACGGG 0.716000 5 8 0 0 0.014758 0 0 ATP12A 479 broad.mit.edu 37 13 25281469 25281469 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:25281469G>A ENST00000218548.6 + 17 2742 c.2409G>A c.(2407-2409)aaG>aaA p.K803K ATP12A_ENST00000381946.3_Silent_p.K797K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 797 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCCTGACCAAGAACATTGCCG 0.502000 22 85 0 0 0.016522 0 0 GPATCH1 55094 broad.mit.edu 37 19 33587228 33587228 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:33587228C>T ENST00000170564.2 + 7 1042 c.728C>T c.(727-729)cCc>cTc p.P243L NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 243 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GGCCTGGATCCCCACCAGGCA 0.453000 50 79 0 0 0.014410 0 0 EEPD1 80820 broad.mit.edu 37 7 36338663 36338663 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:36338663G>A ENST00000242108.4 + 8 2276 c.1558G>A c.(1558-1560)Gat>Aat p.D520N EEPD1_ENST00000534978.1_Missense_Mutation_p.D520N NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 520 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 TTGGATTCCGGATAACTGGTC 0.587000 14 67 0 0 0.020292 0 0 DNAH2 146754 broad.mit.edu 37 17 7661813 7661813 + Splice_Site SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7661813G>A ENST00000572933.1 + 14 3512 c.2051_splice c.e14-1 p.R684_splice DNAH2_ENST00000389173.2_Splice_Site_p.R684_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 684 Stem (By similarity). 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) TTATGCACAGGATTATTGCCA 0.502000 19 99 0 0 0.008871 0 0 GFPT2 9945 broad.mit.edu 37 5 179743970 179743970 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:179743970G>A ENST00000253778.8 - 11 1216 c.1047C>T c.(1045-1047)acC>acT p.T349T GFPT2_ENST00000520165.1_5'UTR NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 349 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TACCTGTGTTGGTTTCAAAAT 0.483000 6 47 0 0 0.001984 0 0 FNDC3A 22862 broad.mit.edu 37 13 49749546 49749546 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr13:49749546C>T ENST00000492622.2 + 13 1704 c.1399C>T c.(1399-1401)Cct>Tct p.P467S FNDC3A_ENST00000541916.1_Missense_Mutation_p.P467S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P411S NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 467 Fibronectin type-III 3. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) AGGCTGTGCTCCTTCTATGCC 0.383000 8 23 0 0 0.008291 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407095 47407095 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:47407095G>A ENST00000310638.4 - 1 42 c.11C>T c.(10-12)tCt>tTt p.S4F CYP4A11_ENST00000371904.4_Missense_Mutation_p.S4F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S4F|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 4 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GCTCAGCACAGAGACACTCAT 0.597000 13 48 0 0 0.020292 0 0 TTLL3 26140 broad.mit.edu 37 3 9867621 9867621 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:9867621C>T ENST00000383827.1 + 2 2508 c.227C>T c.(226-228)tCc>tTc p.S76F TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.S76F|TTLL3_ENST00000547186.1_Missense_Mutation_p.S288F|TTLL3_ENST00000397241.1_Missense_Mutation_p.S76F|TTLL3_ENST00000426895.4_Missense_Mutation_p.S431F|TTLL3_ENST00000427853.3_Missense_Mutation_p.S76F|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.S349F|TTLL3_ENST00000455274.1_Missense_Mutation_p.S76F Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 288 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) GGAGCCAAGTCCCGCGGACGA 0.587000 3 18 0 0 0.009096 0 0 WDR44 54521 broad.mit.edu 37 X 117527160 117527160 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:117527160C>T ENST00000254029.3 + 4 1147 c.752C>T c.(751-753)tCt>tTt p.S251F WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.S251F|WDR44_ENST00000371822.5_Missense_Mutation_p.S226F NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 251 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CCACCTCCTTCTCGACCTGCT 0.463000 21 125 0 0 0.021523 0 0 TENM1 10178 broad.mit.edu 37 X 123615780 123615780 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:123615780C>T ENST00000422452.2 - 22 3814 c.3751G>A c.(3751-3753)Gac>Aac p.D1251N TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.D1244N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GACACAGGGTCCATAGCCAGA 0.418000 9 52 0 0 0.004482 0 0 NHS 4810 broad.mit.edu 37 X 17745908 17745908 + Missense_Mutation SNP C C T rs138311675 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:17745908C>T ENST00000380060.3 + 6 3957 c.3619C>T c.(3619-3621)Cgc>Tgc p.R1207C NHS_ENST00000398097.3_Missense_Mutation_p.R1051C NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1207 nucleus p.R1207C(1) breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TGTGAAGAATCGCTGCGATCC 0.403000 20 96 0 0 0.010504 0 0 PLBD1 79887 broad.mit.edu 37 12 14695164 14695164 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:14695164C>T ENST00000240617.5 - 3 1049 c.397G>A c.(397-399)Gat>Aat p.D133N NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 133 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TGCACTTTATCCATGATGGAA 0.333000 5 29 0 0 0.001984 0 0 NOC2L 26155 broad.mit.edu 37 1 889264 889264 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:889264G>A ENST00000327044.6 - 8 835 c.786C>T c.(784-786)tcC>tcT p.S262S NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 262 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCGACAGACAGGACACCAGCT 0.627000 4 24 0 0 0.009096 0 0 POTEA 340441 broad.mit.edu 37 8 43157211 43157211 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:43157211G>A ENST00000522175.2 + 0 697 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GATGTATTTGGACAAACTGCT 0.308000 12 36 0 0 0.010729 0 0 OR8B12 219858 broad.mit.edu 37 11 124413431 124413431 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:124413431C>T ENST00000306842.2 - 1 144 c.120G>A c.(118-120)ggG>ggA p.G40G NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGCCCAGGTTCCCCACCACGG 0.502000 5 40 0 0 0.014758 0 0 AKR1B1 231 broad.mit.edu 37 7 134134532 134134532 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:134134532G>A ENST00000285930.4 - 4 448 c.369C>T c.(367-369)ttC>ttT p.F123F AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 123 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CATCCAATGGGAAAAATTCCT 0.468000 24 79 0 0 0.027356 0 0 CRNN 49860 broad.mit.edu 37 1 152382907 152382907 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:152382907C>T ENST00000271835.3 - 3 713 c.651G>A c.(649-651)caG>caA p.Q217Q RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 217 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCTCTGTCCTGTTCCCTGG 0.577000 66 156 0 0 0.014410 0 0 DDR2 4921 broad.mit.edu 37 1 162740135 162740135 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:162740135C>T ENST00000367922.2 + 13 1775 c.1337C>T c.(1336-1338)tCc>tTc p.S446F DDR2_ENST00000367921.3_Missense_Mutation_p.S446F NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 446 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GTCAGCCTTTCCCTGCCAAGT 0.493000 30 89 0 0 0.012213 0 0 NID2 22795 broad.mit.edu 37 14 52520650 52520650 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:52520650G>A ENST00000216286.5 - 5 1075 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NID2_ENST00000541773.1_Missense_Mutation_p.S306F NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 359 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) ATCCAAGGTGGAAGATTCTGT 0.502000 9 54 0 0 0.006214 0 0 CACNG2 10369 broad.mit.edu 37 22 37098431 37098431 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:37098431C>T ENST00000300105.6 - 1 1172 c.191G>A c.(190-192)tGg>tAg p.W64* NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 64 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GCAGGTTCTCCATAATCCGGA 0.527000 17 65 0 0 0.008871 0 0 HNF4G 3174 broad.mit.edu 37 8 76476297 76476297 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:76476297C>T ENST00000396423.2 + 10 1428 c.1304C>T c.(1303-1305)tCa>tTa p.S435L HNF4G_ENST00000354370.1_Missense_Mutation_p.S398L NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 398 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TCAGTCATTTCACACCAGCAT 0.418000 16 42 0 0 0.004990 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261995 125261995 + Nonsense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:125261995C>T ENST00000431078.1 + 8 1550 c.1186C>T c.(1186-1188)Cga>Tga p.R396* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 396 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTTCCAGTTTCGAACATGGAA 0.552000 9 43 0 0 0.008291 0 0 DNAH9 1770 broad.mit.edu 37 17 11539999 11539999 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:11539999G>A ENST00000262442.3 + 9 1752 c.1684G>A c.(1684-1686)Gat>Aat p.D562N DNAH9_ENST00000454412.2_Missense_Mutation_p.D562N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 562 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGTAGCGAGGGATACATCTGA 0.453000 12 60 0 0 0.013537 0 0 DCTN1 1639 broad.mit.edu 37 2 74598270 74598270 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:74598270G>A ENST00000361874.3 - 9 996 c.679C>T c.(679-681)Ctg>Ttg p.L227L DCTN1_ENST00000394003.3_Silent_p.L220L|DCTN1_ENST00000409868.1_Silent_p.L210L|DCTN1_ENST00000407639.2_Silent_p.L93L|DCTN1_ENST00000409240.1_Silent_p.L190L|DCTN1_ENST00000409438.1_Silent_p.L93L|DCTN1_ENST00000409567.3_Silent_p.L207L NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 227 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 TTCTCCTCCAGGTCCCGCACC 0.567000 40 177 0 0 0.009718 0 0 OR5K1 26339 broad.mit.edu 37 3 98189118 98189118 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:98189118G>A ENST00000332650.5 + 1 795 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCAAAGAGGGAAGGGCCAAA 0.343000 14 35 0 0 0.016723 0 0 OR2W5 441932 broad.mit.edu 37 1 247654744 247654744 + RNA SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:247654744G>A ENST00000522351.1 + 0 375 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACATCTACATGATGCTGGGCT 0.597000 31 52 0 0 0.010818 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100564728 100564728 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:100564728C>T ENST00000397112.4 - 0 585 NR_036632.1 large_intestine(1)|lung(3) 4 TAACTGCTCCCTTAGGGCTCC 0.483000 11 49 0 0 0.013537 0 0 OR8D4 338662 broad.mit.edu 37 11 123777304 123777304 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:123777304C>T ENST00000321355.2 + 1 196 c.166C>T c.(166-168)Cat>Tat p.H56Y NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TCGTCAACTTCATACCCCCAT 0.408000 21 94 0 0 0.010504 0 0 FOXA1 3169 broad.mit.edu 37 14 38061747 38061747 + Missense_Mutation SNP G G T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr14:38061747G>T ENST00000250448.2 - 2 303 c.242C>A c.(241-243)gCa>gAa p.A81E FOXA1_ENST00000540786.1_Missense_Mutation_p.A48E|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 81 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development 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 transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GCCGGCTACTGCGCCGGGACT 0.687000 13 37 2.27111e-07 2.49033e-07 0.013537 1 0 HERC1 8925 broad.mit.edu 37 15 63932434 63932434 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:63932434G>A ENST00000443617.2 - 61 11905 c.11818C>T c.(11818-11820)Ctg>Ttg p.L3940L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3940 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCATTGGTCAGGGCTTCGGCA 0.463000 19 70 0 0 0.010504 0 0 TSHB 7252 broad.mit.edu 37 1 115576094 115576094 + Silent SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:115576094T>C ENST00000256592.1 + 2 179 c.111T>C c.(109-111)gcT>gcC p.A37A TSHB_ENST00000369517.1_Silent_p.A37A NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 37 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GAGAGTGTGCTTATTGCCTAA 0.413000 12 84 0 0 0.016723 0 0 NOL9 79707 broad.mit.edu 37 1 6605139 6605139 + Silent SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:6605139A>G ENST00000377705.5 - 4 878 c.846T>C c.(844-846)ctT>ctC p.L282L NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 282 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) CCAGGGCTGAAAGGGTACTCT 0.443000 27 72 0 0 0.007291 0 0 LRRCC1 85444 broad.mit.edu 37 8 86041442 86041442 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:86041442C>T ENST00000414626.2 + 9 2283 c.1394C>T c.(1393-1395)tCc>tTc p.S465F LRRCC1_ENST00000360375.3_Missense_Mutation_p.S485F Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 485 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GAGAGAAATTCCAAAGGACAA 0.294000 17 93 0 0 0.004990 0 0 THSD7A 221981 broad.mit.edu 37 7 11452340 11452340 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:11452340C>T ENST00000423059.3 - 18 3876 c.3625G>A c.(3625-3627)Gag>Aag p.E1209K AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1209 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGTTCTTTCTCAACAGCATTA 0.418000 HNSCC(18;0.044) 5 23 0 0 0.014758 0 0 SH2B1 25970 broad.mit.edu 37 16 28883930 28883930 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:28883930C>T ENST00000337120.5 + 7 5092 c.1801C>T c.(1801-1803)Ctc>Ttc p.L601F SH2B1_ENST00000359285.5_Missense_Mutation_p.L601F|SH2B1_ENST00000322610.8_Missense_Mutation_p.L601F|SH2B1_ENST00000395532.4_Missense_Mutation_p.L601F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.L265F|SH2B1_ENST00000545570.1_Missense_Mutation_p.L291F NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 601 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TTTCGATATGCTCGAGCACTT 0.607000 12 46 0 0 0.013537 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032123 10032123 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr16:10032123C>T ENST00000396573.2 - 4 1009 c.700G>A c.(700-702)Gac>Aac p.D234N GRIN2A_ENST00000396575.2_Missense_Mutation_p.D234N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D234N|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D234N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D77N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D234N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 234 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGCCTCGTCTTTGGAACAG 0.512000 14 38 0 0 0.020292 0 0 TGM7 116179 broad.mit.edu 37 15 43571937 43571937 + Missense_Mutation SNP G G A rs143155861 byFrequency TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr15:43571937G>A ENST00000452443.2 - 10 1568 c.1564C>T c.(1564-1566)Cgg>Tgg p.R522W NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 522 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 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;9.14e-07) L-Glutamine(DB00130) ATGGGCCCCCGAGGGTGGGTG 0.662000 11 44 0 0 0.008291 0 0 IGF1 3479 broad.mit.edu 37 12 102811618 102811618 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:102811618C>T ENST00000307046.8 - 4 747 c.566G>A c.(565-567)tGc>tAc p.C189Y IGF1_ENST00000392904.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Intron NM_001111285.1 NP_001104755.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 189 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 TTTGCCTCTGCATTCAGCATT 0.458000 35 204 0 0 0.025465 0 0 ABCA13 154664 broad.mit.edu 37 7 48431653 48431653 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:48431653C>T ENST00000435803.1 + 38 11814 c.11790C>T c.(11788-11790)ctC>ctT p.L3930L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3930 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGACAACCTCACCGTCCGGG 0.507000 7 33 0 0 0.004482 0 0 ZNF677 342926 broad.mit.edu 37 19 53740413 53740413 + Missense_Mutation SNP C C G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:53740413C>G ENST00000333952.4 - 5 1732 c.1567G>C c.(1567-1569)Gct>Cct p.A523P ZNF677_ENST00000598513.1_Missense_Mutation_p.A523P Q86XU0 ZN677_HUMAN zinc finger protein 677 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A523S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGGGTAAAAGCTTTGCCACAT 0.343000 7 32 0 0 0.001984 0 0 WWC2 80014 broad.mit.edu 37 4 184182164 184182164 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:184182164C>T ENST00000403733.3 + 11 1587 c.1388C>T c.(1387-1389)tCc>tTc p.S463F WWC2_ENST00000504005.1_Missense_Mutation_p.S145F|WWC2_ENST00000448232.2_Missense_Mutation_p.S463F|WWC2_ENST00000513834.1_Missense_Mutation_p.S463F|WWC2_ENST00000378925.3_Missense_Mutation_p.S365F NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 463 Ser-rich. NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCACTCAACTCCCTCAGTTCC 0.517000 4 12 0 0 0.001984 0 0 CKM 1158 broad.mit.edu 37 19 45811753 45811753 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:45811753C>T ENST00000221476.3 - 6 865 c.691G>A c.(691-693)Gag>Aag p.E231K NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 231 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) TGATCCTCCTCGTTCACCCAC 0.602000 20 53 0 0 0.016522 0 0 GLP2R 9340 broad.mit.edu 37 17 9792967 9792967 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:9792967G>A ENST00000262441.5 + 13 2120 c.1607G>A c.(1606-1608)gGg>gAg p.G536E GLP2R_ENST00000574745.1_Missense_Mutation_p.G356E NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 536 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TGCAGTGAGGGGGATGTCACC 0.627000 3 7 0 0 0.004672 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020298 156020298 + Silent SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:156020298A>C ENST00000368309.3 - 4 617 c.525T>G c.(523-525)tcT>tcG p.S175S UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 175 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TGAAGTTGGCAGAGCCCAGGC 0.592000 6 49 0 0 0.021553 0 0 ST14 6768 broad.mit.edu 37 11 130066550 130066550 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:130066550G>A ENST00000278742.5 + 11 1727 c.1309G>A c.(1309-1311)Gac>Aac p.D437N NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 437 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTCCTACACCGACACCGGCTT 0.582000 8 42 0 0 0.008291 0 0 LILRP2 79166 broad.mit.edu 37 19 55221645 55221645 + RNA SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:55221645C>T ENST00000413439.1 + 0 1415 GGTGAGGAGCCCAGCAGGTTC 0.672000 19 14 0 0 0.008871 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744719 135744719 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:135744719G>A ENST00000375845.3 - 7 1753 c.1723C>T c.(1723-1725)Ccg>Tcg p.P575S MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462S|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CCCAAAGCCGGGAAAATTTGT 0.438000 15 38 0 0 0.020292 0 0 ZNF461 92283 broad.mit.edu 37 19 37130870 37130870 + Missense_Mutation SNP A A G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:37130870A>G ENST00000588268.1 - 6 604 c.377T>C c.(376-378)gTt>gCt p.V126A ZNF461_ENST00000360357.4_Missense_Mutation_p.V103A|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTCCATGTTAACCCACTGGGA 0.388000 22 92 0 0 0.014323 0 0 SPTA1 6708 broad.mit.edu 37 1 158585013 158585013 + Nonsense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:158585013G>A ENST00000368148.3 - 48 6961 c.6781C>T c.(6781-6783)Cag>Tag p.Q2261* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q2258* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2261 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) TACTTGGCCTGGATCTGTTGC 0.527000 33 135 0 0 0.017118 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313571 233313571 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:233313571G>A ENST00000258229.8 - 17 3484 c.3250C>T c.(3250-3252)Ccc>Tcc p.P1084S PCNXL2_ENST00000488780.2_Missense_Mutation_p.P217S NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1084 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATCTTCTTGGGGAGAGGGTCA 0.443000 6 36 0 0 0.021553 0 0 TSPAN33 340348 broad.mit.edu 37 7 128801522 128801522 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:128801522G>A ENST00000289407.4 + 2 214 c.105G>A c.(103-105)gtG>gtA p.V35V NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 35 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 CTCCACAGGTGATTTCCATGG 0.557000 15 87 0 0 0.028581 0 0 RAD54L2 23132 broad.mit.edu 37 3 51696603 51696603 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:51696603T>A ENST00000409535.1 + 22 3696 c.3571T>A c.(3571-3573)Tcc>Acc p.S1191T RAD54L2_ENST00000296477.3_Missense_Mutation_p.S885T NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1191 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGCCCGGGAATCCCGTCAGAG 0.652000 4 33 0 0 0.014758 0 0 DCST2 127579 broad.mit.edu 37 1 155002970 155002970 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:155002970G>A ENST00000368424.3 - 6 1015 c.957C>T c.(955-957)gtC>gtT p.V319V DCST2_ENST00000295536.5_Silent_p.V319V NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 319 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 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) GGGCCTCTCGGACACGGTGCA 0.642000 5 29 0 0 0.014758 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33048570 33048570 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:33048570C>T ENST00000418931.2 + 2 338 c.222C>T c.(220-222)ttC>ttT p.F74F HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Silent_p.F74F NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 74 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 TGGGGGAGTTCCGGGCGGTGA 0.627000 5 49 0 0 0.001984 0 0 MORC2 22880 broad.mit.edu 37 22 31332988 31332988 + Missense_Mutation SNP A A T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:31332988A>T ENST00000215862.4 - 17 2712 c.1349T>A c.(1348-1350)cTg>cAg p.L450Q MORC2_ENST00000397641.2_Missense_Mutation_p.L512Q|MORC2_ENST00000469915.1_5'UTR NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 512 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CACAGAACTCAGCTGGAAGGG 0.498000 6 37 0 0 0.001984 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447941 96447941 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:96447941C>T ENST00000285979.6 + 3 590 c.391C>T c.(391-393)Ctg>Ttg p.L131L CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.L131L NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CCTCATGACTCTGCGGAATTT 0.502000 7 32 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 168108395 168108395 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:168108395C>T ENST00000409195.1 + 9 10582 c.10493C>T c.(10492-10494)aCc>aTc p.T3498I XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3498I|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3276I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3323 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGATATGCAACCGCAGATGCT 0.373000 8 23 0 0 0.003080 0 0 CYP4X1 260293 broad.mit.edu 37 1 47512224 47512224 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:47512224G>A ENST00000371901.3 + 9 1409 c.1159G>A c.(1159-1161)Gat>Aat p.D387N CYP4X1_ENST00000538609.1_Missense_Mutation_p.D386N NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 387 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CATTTCCAGAGATCTCAGCAA 0.512000 16 34 0 0 0.024245 0 0 ZFP57 346171 broad.mit.edu 37 6 29641432 29641432 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:29641432G>A ENST00000376883.1 - 6 807 c.396C>T c.(394-396)ccC>ccT p.P132P ZFP57_ENST00000488757.1_Silent_p.P152P|ZFP57_ENST00000376881.3_Silent_p.P132P Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 78 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGGCAGATAGGGGGCACTGGC 0.557000 36 67 0 0 0.019004 0 0 LYNX1 66004 broad.mit.edu 37 8 143846092 143846092 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:143846092G>A ENST00000335822.5 - 5 954 c.327C>T c.(325-327)atC>atT p.I109I LYNX1_ENST00000317543.7_Silent_p.I75I|LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA NM_023946.2 NP_076435.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 75 extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCAGGCTGGGGATATCGGGGC 0.637000 18 65 0 0 0.006122 0 0 LRRC17 10234 broad.mit.edu 37 7 102579963 102579963 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:102579963G>A ENST00000249377.4 + 3 1140 c.859G>A c.(859-861)Gaa>Aaa p.E287K FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E287K|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000456695.1_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 287 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TCGACCCAAGGAATTTGAAGA 0.383000 13 52 0 0 0.013537 0 0 THEG 51298 broad.mit.edu 37 19 371237 371237 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:371237G>A ENST00000342640.4 - 6 763 c.721C>T c.(721-723)Cgt>Tgt p.R241C THEG_ENST00000346878.2_Missense_Mutation_p.R217C NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 241 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AAGTTATCACGAATCTTCGGG 0.657000 25 106 0 0 0.027356 0 0 PRKD2 25865 broad.mit.edu 37 19 47192806 47192806 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:47192806G>A ENST00000433867.1 - 15 2436 c.1959C>T c.(1957-1959)ttC>ttT p.F653F PRKD2_ENST00000291281.4_Silent_p.F653F|PRKD2_ENST00000600194.1_Silent_p.F496F|PRKD2_ENST00000595515.1_Silent_p.F653F|PRKD2_ENST00000601806.1_Silent_p.F496F NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 653 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGGTGATGAGGAACTTGGTGA 0.607000 5 12 0 0 0.014758 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359259 64359259 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:64359259C>T ENST00000377574.1 + 1 978 c.231C>T c.(229-231)atC>atT p.I77I SLC22A12_ENST00000377572.1_Silent_p.I77I|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.I77I|SLC22A12_ENST00000336464.7_Silent_p.I77I NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 77 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CTATTTCCATCCCGCCGGGCC 0.687000 6 23 0 0 0.001984 0 0 ZNF236 7776 broad.mit.edu 37 18 74620486 74620486 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr18:74620486G>A ENST00000253159.8 + 14 2700 c.2502G>A c.(2500-2502)ggG>ggA p.G834G ZNF236_ENST00000320610.9_Silent_p.G836G NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 834 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGGAAGCAGGGCTGGGCCAGC 0.582000 15 48 0 0 0.028581 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857265 140857265 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:140857265G>A ENST00000308177.3 + 1 1686 c.1582G>A c.(1582-1584)Gag>Aag p.E528K PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAGACTATGAGGATCGGCG 0.493000 11 34 0 0 0.016723 0 0 KRT6A 3853 broad.mit.edu 37 12 52885419 52885419 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr12:52885419G>A ENST00000330722.6 - 2 710 c.642C>T c.(640-642)ttC>ttT p.F214F NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 214 Linker 1.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTACTGCTCGAACAACGGCT 0.597000 13 52 0 0 0.016723 0 0 OR5H2 79310 broad.mit.edu 37 3 98002107 98002107 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:98002107G>A ENST00000355273.2 + 1 376 c.376G>A c.(376-378)Gat>Aat p.D126N RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AATGGCATATGATCGCTATGT 0.373000 8 44 0 0 0.004482 0 0 AGXT2 64902 broad.mit.edu 37 5 35010122 35010122 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:35010122C>T ENST00000231420.6 - 12 1521 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 441 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGCACCATTTCTATGCCTATC 0.453000 4 34 0 0 0.009096 0 0 XIRP1 165904 broad.mit.edu 37 3 39228015 39228015 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:39228015G>A ENST00000340369.3 - 2 3150 c.2922C>T c.(2920-2922)ccC>ccT p.P974P XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.P974P NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 974 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGTCCAGTGGGGGAACATGGA 0.667000 8 35 0 0 0.004482 0 0 GLRB 2743 broad.mit.edu 37 4 158057765 158057765 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:158057765G>A ENST00000264428.4 + 5 712 c.442G>A c.(442-444)Gaa>Aaa p.E148K GLRB_ENST00000509282.1_Missense_Mutation_p.E148K|GLRB_ENST00000541722.1_Missense_Mutation_p.E148K|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 148 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTTGCAAATGAAAAAAGTGC 0.393000 24 75 0 0 0.027356 0 0 ACAP1 9744 broad.mit.edu 37 17 7252386 7252386 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:7252386C>T ENST00000158762.3 + 18 1957 c.1751C>T c.(1750-1752)tCt>tTt p.S584F NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 584 Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CATCCTCCATCTCTTCCCACC 0.602000 7 45 0 0 0.003080 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132797 64132797 + Missense_Mutation SNP T T C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:64132797T>C ENST00000295902.6 - 7 1954 c.1369A>G c.(1369-1371)Atg>Gtg p.M457V PRICKLE2_ENST00000564377.1_Missense_Mutation_p.M513V NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 457 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGTCCTGTCATGGCCAGTGAC 0.557000 19 72 0 0 0.008871 0 0 ITGA10 8515 broad.mit.edu 37 1 145535871 145535871 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:145535871C>T ENST00000369304.3 + 16 2234 c.2059C>T c.(2059-2061)Cgt>Tgt p.R687C ITGA10_ENST00000538811.1_Missense_Mutation_p.R556C|ITGA10_ENST00000539363.1_Missense_Mutation_p.R544C NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 687 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGTGACCTCCCGTACTCCTGG 0.547000 12 53 0 0 0.016723 0 0 SCG2 7857 broad.mit.edu 37 2 224462447 224462447 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:224462447G>A ENST00000305409.2 - 2 1786 c.1554C>T c.(1552-1554)atC>atT p.I518I NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 518 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTGAATTAATGATCTCAGGGT 0.428000 13 47 0 0 0.013537 0 0 TGFBI 7045 broad.mit.edu 37 5 135396580 135396580 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:135396580A>C ENST00000442011.2 + 14 2022 c.1861A>C c.(1861-1863)Aca>Cca p.T621P TGFBI_ENST00000305126.8_Missense_Mutation_p.T621P|TGFBI_ENST00000508076.1_Missense_Mutation_p.T3P NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 621 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATCATGGCCACAAATGGCGT 0.473000 5 10 0 0 0.001984 0 0 CRB1 23418 broad.mit.edu 37 1 197390665 197390665 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr1:197390665C>T ENST00000367400.3 + 6 1842 c.1707C>T c.(1705-1707)ttC>ttT p.F569F CRB1_ENST00000367399.2_Silent_p.F457F|CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.F500F NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 569 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.F569F(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGCATTTCGTGGAGGTAA 0.453000 26 77 0 0 0.021523 0 0 CLCN5 1184 broad.mit.edu 37 X 49855004 49855004 + Missense_Mutation SNP G G A rs140246004 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chrX:49855004G>A ENST00000376088.3 + 13 2617 c.1976G>A c.(1975-1977)cGg>cAg p.R659Q CLCN5_ENST00000307367.2_Missense_Mutation_p.R589Q|CLCN5_ENST00000376108.3_Missense_Mutation_p.R589Q|CLCN5_ENST00000376091.3_Missense_Mutation_p.R659Q NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 589 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) ATGAAACCCCGGAGAAATGAT 0.463000 9 58 0 0 0.006214 0 0 SGSM1 129049 broad.mit.edu 37 22 25294253 25294253 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr22:25294253G>A ENST00000400358.4 + 19 2394 c.2337G>A c.(2335-2337)caG>caA p.Q779Q SGSM1_ENST00000400359.4_Silent_p.Q834Q NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 834 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 TGGCCGTGCAGGACAGCCTGG 0.632000 8 19 0 0 0.004482 0 0 SPATS1 221409 broad.mit.edu 37 6 44310878 44310878 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr6:44310878C>T ENST00000288390.2 + 1 393 c.46C>T c.(46-48)Ctc>Ttc p.L16F SPATS1_ENST00000323108.8_Missense_Mutation_p.L16F Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 16 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGCTGCCGTCTCCCCTCCAT 0.522000 5 39 0 0 0.021553 0 0 XDH 7498 broad.mit.edu 37 2 31569643 31569643 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:31569643C>T ENST00000379416.3 - 30 3391 c.3343G>A c.(3343-3345)Gaa>Aaa p.E1115K NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1115 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACCCAGTCTTCCCAGGAGCCA 0.512000 19 103 0 0 0.016522 0 0 ANKHD1 54882 broad.mit.edu 37 5 139838938 139838938 + Missense_Mutation SNP C C T rs141407377 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:139838938C>T ENST00000297183.6 + 9 1794 c.1670C>T c.(1669-1671)tCt>tTt p.S557F ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S557F|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S546F|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S557F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S557F NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCTGGCTTCTGGTATGTGG 0.403000 6 52 0 0 0.004482 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128647 150128647 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr3:150128647C>T ENST00000361875.2 + 1 2526 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S TSC22D2_ENST00000361136.2_Missense_Mutation_p.P504S NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 504 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CGCCGTGGTGCCCGGAGTTCC 0.672000 7 22 0 0 0.006214 0 0 TUBAL3 79861 broad.mit.edu 37 10 5437347 5437347 + Silent SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr10:5437347G>A ENST00000380419.3 - 3 376 c.339C>T c.(337-339)ggC>ggT p.G113G TUBAL3_ENST00000479328.1_Silent_p.G73G NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 113 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CAGAGTAACGGCCTCGCGCGT 0.637000 10 89 0 0 0.008291 0 0 HOXD3 3232 broad.mit.edu 37 2 177036546 177036546 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr2:177036546C>T ENST00000468418.3 + 4 2933 c.843C>T c.(841-843)gcC>gcT p.A281A HOXD3_ENST00000249440.3_Silent_p.A281A|HOXD3_ENST00000410016.1_Silent_p.A281A P31249 HXD3_HUMAN homeobox D3 281 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GCCACGTGGCCTACTCCGGCC 0.697000 6 22 0 0 0.021553 0 0 INTS1 26173 broad.mit.edu 37 7 1527399 1527399 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr7:1527399G>A ENST00000389470.4 - 20 2896 c.2897C>T c.(2896-2898)cCc>cTc p.P966L INTS1_ENST00000404767.3_Missense_Mutation_p.P838L Q8N201 INT1_HUMAN integrator complex subunit 1 838 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGCGTACTGGGGGTCCAGGCT 0.692000 6 13 0 0 0.003080 0 0 PSG5 5673 broad.mit.edu 37 19 43680107 43680107 + Silent SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:43680107C>T ENST00000404580.1 - 3 712 c.624G>A c.(622-624)acG>acA p.T208T PSG5_ENST00000366175.3_Silent_p.T208T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Silent_p.T208T|PSG5_ENST00000342951.6_Silent_p.T208T|PSG5_ENST00000599812.1_Silent_p.T301T Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 208 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTTCATTTCTCGTGACACTGG 0.498000 23 125 0 0 0.008361 0 0 FAM86EP 348926 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 4 5 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132232044 132232044 + Frame_Shift_Del DEL C C - TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr5:132232044delC ENST00000265343.5 - 11 2657 c.2278delG c.(2278-2280)ttfs p.V760fs AFF4_ENST00000378595.3_Frame_Shift_Del_p.V760fs NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 760 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGTTGGAAACTTTTTCTGAG 0.433 17 78 --- --- --- --- LINC00529 83647 broad.mit.edu 37 8 11114061 11114062 + RNA INS - - A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr8:11114061_11114062insA ENST00000443854.1 - 0 77 GCCTCCAGGCCAAAAAGAAGGA 0.490 2 4 --- --- --- --- FAM111A 63901 broad.mit.edu 37 11 58919775 58919776 + Frame_Shift_Del DEL TG TG - TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:58919775_58919776delTG ENST00000528737.1 + 5 3452_3453 c.634_635delTG c.(634-636)tfs p.C212fs FAM111A_ENST00000420244.1_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000533703.1_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000361723.3_Frame_Shift_Del_p.C212fs|FAM111A_ENST00000531147.1_Frame_Shift_Del_p.C212fs Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 212 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) GCGCAAACTCTGTGTTTATGCT 0.386 10 44 --- --- --- --- HRASLS5 117245 broad.mit.edu 37 11 63257736 63257743 + Frame_Shift_Del DEL TGTTCTAA TGTTCTAA - TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr11:63257736_63257743delTGTTCTAA ENST00000540857.1 - 2 343_350 c.211_218delTTAGAACA c.(211-219)gfs p.LEQ71fs HRASLS5_ENST00000539221.1_Frame_Shift_Del_p.LEQ81fs|HRASLS5_ENST00000301790.4_Frame_Shift_Del_p.LEQ81fs NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 81 p.L81L(1) endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 GCTTCTGCCCTGTTCTAATGTGCCCGGC 0.486 34 220 --- --- --- --- HOXB8 3218 broad.mit.edu 37 17 46690839 46690840 + Frame_Shift_Ins INS - - G TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr17:46690839_46690840insG ENST00000239144.4 - 2 690_691 c.456_457insC c.(454-459)acacagfs p.Q153fs HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.Q152fs|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 153 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 TAGCGGCTGTAGGTCTGTCGGC 0.639 16 87 --- --- --- --- KXD1 79036 broad.mit.edu 37 19 18677989 18677990 + Frame_Shift_Ins INS - - T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecc80084-895a-4810-b1ec-a1039aa7260d b42231d7-56a6-4b1b-8477-406f3b32c8e7 g.chr19:18677989_18677990insT ENST00000598830.1 + 3 839_840 c.302_303insT c.(301-303)caafs p.Q101fs KXD1_ENST00000599319.1_Splice_Site|KXD1_ENST00000599000.1_Frame_Shift_Ins_p.Q101fs|KXD1_ENST00000602094.1_Splice_Site|KXD1_ENST00000601630.1_Splice_Site|KXD1_ENST00000595073.1_Splice_Site|KXD1_ENST00000539106.1_Splice_Site|KXD1_ENST00000222307.4_Splice_Site|KXD1_ENST00000540691.1_Splice_Site Q9BQD3 CS050_HUMAN KxDL motif containing 1 101 protein binding GCCTTCAGCCGTAAGTGTCACG 0.629 5 11 --- --- --- ---