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 ADHFE1 137872 broad.mit.edu 37 8 67357628 67357628 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:67357628C>T ENST00000396623.3 + 6 560 c.529C>T c.(529-531)Cct>Tct p.P177S ADHFE1_ENST00000415254.1_Missense_Mutation_p.P129S|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P177S NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 177 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TGTGTCTGTGCCTCTTAAGCC 0.423000 51 120 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654863 161654863 + RNA SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:161654863G>A ENST00000426558.1 - 0 179 NR_002595.1 GAAGCTCTTTGAGTGCCCGAG 0.507000 17 25 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560674 32560674 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:32560674C>G ENST00000345122.3 + 2 1114 c.799C>G c.(799-801)Caa>Gaa p.Q267E ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q267E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 267 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) AACACAGAGACAACTTGTTGT 0.328000 25 197 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28474185 28474185 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:28474185T>A ENST00000361902.1 - 3 312 c.263A>T c.(262-264)gAg>gTg p.E88V GPX6_ENST00000474923.1_Missense_Mutation_p.E88V|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 88 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) ATTCTTCAGCTCCTCCTGTAG 0.458000 24 59 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356180 40356180 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:40356180G>A ENST00000310169.2 + 5 1222 c.1083G>A c.(1081-1083)ccG>ccA p.P361P NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 361 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GCCTCAGCCCGCACCACAGTA 0.547000 4 137 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103431072 103431072 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:103431072G>A ENST00000358392.2 - 38 3240 c.2923C>T c.(2923-2925)Cct>Tct p.P975S COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P963S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 963 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGCCCAGGAGGGCCGGTC 0.393000 43 94 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91029360 91029360 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:91029360G>A ENST00000268182.5 + 31 4144 c.4020G>A c.(4018-4020)ctG>ctA p.L1340L IQGAP1_ENST00000560738.1_Silent_p.L768L NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1340 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TCGAGTCCCTGATAGGTAGAG 0.483000 11 36 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356598 116356598 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr9:116356598G>A ENST00000462403.1 + 1 833 c.399G>A c.(397-399)caG>caA p.Q133Q RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1020 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GGAACCTGCAGAGGCGACACA 0.622000 21 54 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40850345 40850345 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr18:40850345C>T ENST00000255224.3 - 4 1607 c.1239G>A c.(1237-1239)agG>agA p.R413R SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.R395R NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 413 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 CAATTTGTCTCCTGGGGTAGT 0.483000 116 183 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21000493 21000493 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:21000493C>T ENST00000274695.4 + 11 1112 c.945C>T c.(943-945)taC>taT p.Y315Y CDKAL1_ENST00000378610.1_Silent_p.Y315Y|CDKAL1_ENST00000378624.4_Silent_p.Y245Y NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 315 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CCAGAGTCTACGCTTTTCTGC 0.393000 54 136 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236898965 236898965 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:236898965G>C ENST00000366578.4 + 8 894 c.728G>C c.(727-729)aGa>aCa p.R243T ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 243 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCCGATGAAAGAGCCATCATG 0.532000 19 54 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123022969 123022969 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:123022969C>T ENST00000333479.7 + 4 511 c.334C>T c.(334-336)Cat>Tat p.H112Y KNTC1_ENST00000450485.2_Missense_Mutation_p.H112Y NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 112 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ACATCTTATTCATGTAACATC 0.308000 5 5 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7635887 7635887 + Splice_Site SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:7635887G>C ENST00000340080.4 + 11 2617 c.e11-1 MIOS_ENST00000405785.1_Splice_Site NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTGTTTTGTAGGTTTTTGTGA 0.353000 45 55 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124045696 124045696 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:124045696G>C ENST00000368994.2 + 5 572 c.321G>C c.(319-321)aaG>aaC p.K107N BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 106 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CCTTGGCCAAGCTCTACCTGA 0.587000 5 219 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123794272 123794272 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:123794272C>A ENST00000420886.2 - 25 3426 c.3427G>T c.(3427-3429)Gat>Tat p.D1143Y SBNO1_ENST00000602398.1_Missense_Mutation_p.D1143Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D1142Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D1142Y NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1143 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATTCCCATATCATATCTTCCA 0.393000 52 119 7.05377e-20 7.95152e-20 1 1 0 SLK 9748 broad.mit.edu 37 10 105765747 105765747 + Missense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:105765747A>T ENST00000369755.3 + 11 3103 c.2558A>T c.(2557-2559)cAg>cTg p.Q853L SLK_ENST00000335753.4_Missense_Mutation_p.Q853L NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 853 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGCAAACTACAGCAACAACGA 0.348000 43 90 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136646895 136646895 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:136646895G>A ENST00000481752.1 + 2 216 c.52G>A c.(52-54)Gaa>Aaa p.E18K NCK1_ENST00000288986.2_Missense_Mutation_p.E18K P16333 NCK1_HUMAN NCK adaptor protein 1 18 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GGCCCAACAAGAACAAGAGTT 0.388000 38 54 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55728019 55728019 + Missense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:55728019G>T ENST00000379906.2 + 6 1271 c.1016G>T c.(1015-1017)tGt>tTt p.C339F SLC6A2_ENST00000568943.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C294F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C234F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.C339F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C339F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C339F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 339 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) GACAACAACTGTTACAGGTAA 0.443000 38 57 9.88483e-10 1.04465e-09 1 1 0 FLAD1 80308 broad.mit.edu 37 1 154965259 154965259 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:154965259G>A ENST00000292180.3 + 6 1947 c.1625G>A c.(1624-1626)cGa>cAa p.R542Q FLAD1_ENST00000368432.1_Missense_Mutation_p.R445Q|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R445Q|FLAD1_ENST00000368428.1_Missense_Mutation_p.R83Q|FLAD1_ENST00000405236.2_Intron NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 542 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGTATGACCGAGGGTAAGGG 0.512000 60 142 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629687 155629687 + Missense_Mutation SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:155629687A>G ENST00000368340.5 - 10 2476 c.2368T>C c.(2368-2370)Ttc>Ctc p.F790L MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F718L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F672L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F641L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F518L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.F661L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F810L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F652L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F672L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F672L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F641L 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) ACTTTGGGGAAAACAGTAGCA 0.507000 31 105 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197566209 197566209 + Silent SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:197566209A>G ENST00000438796.2 + 10 1313 c.1269A>G c.(1267-1269)ccA>ccG p.P423P LRCH3_ENST00000425562.2_Silent_p.P423P|LRCH3_ENST00000414675.2_Silent_p.P395P|LRCH3_ENST00000334859.4_Silent_p.P423P|LRCH3_ENST00000441090.2_Silent_p.P269P|LRCH3_ENST00000536618.1_Silent_p.P18P Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 423 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CAGTAAAGCCAGTAGCCATTA 0.328000 30 51 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32131522 32131522 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:32131522C>A ENST00000373672.3 - 54 3933 c.3417G>T c.(3415-3417)gaG>gaT p.E1139D COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139D NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1139 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGGTCCTCGCTCTCCTCTGG 0.612000 21 43 6.21321e-17 6.96179e-17 1 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325463 150325463 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:150325463C>T ENST00000328902.5 - 3 439 c.223G>A c.(223-225)Gtg>Atg p.V75M GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 75 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCTTGGTCACGGGTCTGGTG 0.577000 112 139 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920399 160920399 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:160920399G>A ENST00000368029.3 - 5 601 c.544C>T c.(544-546)Cgc>Tgc p.R182C ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 182 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTGTTGGTGCGGTACCTCAGC 0.577000 41 128 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24648888 24648888 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:24648888G>A ENST00000311457.3 + 18 2003 c.1404G>A c.(1402-1404)gtG>gtA p.V468V REC8_ENST00000559919.1_Silent_p.V468V|REC8_ENST00000559939.1_3'UTR O95072 REC8_HUMAN REC8 meiotic recombination protein 469 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) TGCCTTTGGTGCTGCCCCCAG 0.632000 23 52 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124619698 124619698 + Silent SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:124619698C>G ENST00000403470.1 - 4 547 c.492G>C c.(490-492)ctG>ctC p.L164L VSIG2_ENST00000326621.5_Silent_p.L164L Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 164 Ig-like C2-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) AGCTGCATCTCAGTGCAGTAG 0.473000 43 32 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109182643 109182643 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:109182643C>G ENST00000326495.5 - 15 2364 c.2271G>C c.(2269-2271)ttG>ttC p.L757F SSH1_ENST00000360239.3_Missense_Mutation_p.L445F NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 757 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGAATTCTTCAAAAGGAGGG 0.527000 61 116 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 58 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110300656 110300656 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:110300656C>A ENST00000369805.3 - 9 974 c.745G>T c.(745-747)Gac>Tac p.D249Y EPS8L3_ENST00000361852.4_Missense_Mutation_p.D248Y|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.D248Y NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 248 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGCTCAATGTCCCTTAGGACA 0.562000 36 68 2.05212e-20 2.3274e-20 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35402012 35402012 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:35402012C>A ENST00000453357.2 + 1 103 c.47C>A c.(46-48)aCt>aAt p.T16N UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000420357.1_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity p.T16S(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGTGCTGGGACTTCCGGGTTC 0.423000 27 40 9.39395e-14 1.01586e-13 1 1 0 SART3 9733 broad.mit.edu 37 12 108942937 108942937 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:108942937G>A ENST00000228284.3 - 2 600 c.366C>T c.(364-366)ctC>ctT p.L122L SART3_ENST00000431469.2_Silent_p.L122L|SART3_ENST00000552221.1_5'UTR NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 122 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 CTTCCAGCCTGAGCAGTCTGA 0.453000 Porokeratosis 23 51 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34035053 34035053 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:34035053G>A ENST00000373381.4 - 52 8228 c.8052C>T c.(8050-8052)tcC>tcT p.S2684S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2686 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGTGTATCCGGAATTGCAGG 0.582000 19 49 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21136517 21136517 + Silent SNP A A C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:21136517A>C ENST00000261383.3 - 9 1382 c.1383T>G c.(1381-1383)gtT>gtG p.V461V DNAH3_ENST00000415178.1_Silent_p.V461V|CTC-508F8.1_ENST00000575612.1_RNA NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 461 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) TGAAAAGGGAAACGAGGTCCT 0.448000 30 67 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7071047 7071047 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:7071047G>A ENST00000299481.4 + 6 2615 c.2269G>A c.(2269-2271)Gag>Aag p.E757K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 757 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GAAACACCCAGAGTGTAAACT 0.373000 66 49 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115611 220115611 + Silent SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:220115611G>T ENST00000392088.2 - 4 1320 c.765C>A c.(763-765)gcC>gcA p.A255A TUBA4A_ENST00000248437.4_Silent_p.A270A|TUBA4A_ENST00000498660.1_5'UTR NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 270 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGCATAGGTGGCCAGGGGGA 0.572000 13 49 7.03913e-09 7.39705e-09 1 1 0 UGT2B15 7366 broad.mit.edu 37 4 69520826 69520826 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:69520826C>G ENST00000338206.5 - 4 1089 c.1080G>C c.(1078-1080)caG>caC p.Q360H NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 360 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GAAGGTCATTCTGGGGTAACC 0.358000 97 213 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49646098 49646098 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:49646098G>A ENST00000334186.4 + 21 2931 c.2582G>A c.(2581-2583)tGc>tAc p.C861Y PPFIA3_ENST00000602351.1_Missense_Mutation_p.C861Y NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 861 SAM 1. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GTGGCCGCCTGCCGGGCCAAT 0.622000 29 65 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79314704 79314704 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:79314704G>A ENST00000305089.3 - 2 115 c.35C>T c.(34-36)tCc>tTc p.S12F NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 12 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CATCAGGGAGGAGATCAGCAT 0.488000 5 13 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24834300 24834300 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:24834300G>C ENST00000395799.3 + 24 5608 c.5479G>C c.(5479-5481)Gaa>Caa p.E1827Q TNRC6A_ENST00000432286.2_Missense_Mutation_p.E305Q|TNRC6A_ENST00000315183.7_Missense_Mutation_p.E1778Q NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1827 RRM.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CAGTTCAAAAGAAGAGGTAGT 0.542000 59 80 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29274948 29274948 + Nonsense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:29274948C>T ENST00000379558.4 + 20 3400 c.3049C>T c.(3049-3051)Cag>Tag p.Q1017* FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q962* NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 1017 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATACCCTTTTCAGCTGGATTA 0.468000 4 18 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90777641 90777641 + Missense_Mutation SNP T T C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:90777641T>C ENST00000220751.4 + 3 714 c.400T>C c.(400-402)Tac>Cac p.Y134H RIPK2_ENST00000540020.1_5'UTR NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 134 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TGGTGTAAATTACCTGCACAA 0.328000 58 102 0 0 1 0 0 FAS 355 broad.mit.edu 37 10 90774046 90774046 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:90774046C>A ENST00000355740.2 + 9 1067 c.847C>A c.(847-849)Caa>Aaa p.Q283K FAS_ENST00000357339.2_Missense_Mutation_p.Q262K|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000355279.2_3'UTR NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 283 Death.|Interaction with HIPK3 (By similarity). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAATTGGCATCAACTTCATGG 0.368000 22 80 2.27731e-05 2.31464e-05 1 1 0 MTERFD1 51001 broad.mit.edu 37 8 97269221 97269221 + Silent SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:97269221A>G ENST00000523821.1 - 3 575 c.456T>C c.(454-456)caT>caC p.H152H MTERFD1_ENST00000522822.1_Silent_p.H31H|MTERFD1_ENST00000287025.3_Silent_p.H152H|MTERFD1_ENST00000524341.1_5'UTR Q96E29 MTER1_HUMAN MTERF domain containing 1 152 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) GAGTCTCAGAATGATCCACAT 0.378000 33 44 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238976 31238976 + Nonsense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:31238976G>A ENST00000383329.3 - 3 507 c.493C>T c.(493-495)Cag>Tag p.Q165* HLA-C_ENST00000376228.5_Nonsense_Mutation_p.Q165* Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 165 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 TGGGTGATCTGAGCCGCGGTG 0.677000 10 38 0 0 1 0 0 WBSCR16 81554 broad.mit.edu 37 7 74470029 74470029 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:74470029T>A ENST00000503250.2 - 9 1279 c.1210A>T c.(1210-1212)Agc>Tgc p.S404C WBSCR16_ENST00000329959.4_Missense_Mutation_p.S404C Q96I51 WBS16_HUMAN Williams-Beuren syndrome chromosome region 16 404 kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GCAAAGTGGCTGAGTCCACAT 0.557000 4 168 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368272 74368272 + Nonsense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:74368272C>A ENST00000290438.3 - 8 659 c.619G>T c.(619-621)Gag>Tag p.E207* NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 207 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 AGCGCCCGCTCCTTTATGGTC 0.592000 6 257 0.248553 0.248553 1 1 0 GOLGA6B 55889 broad.mit.edu 37 15 72953659 72953659 + Nonsense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:72953659G>T ENST00000421285.3 + 8 619 c.619G>T c.(619-621)Gag>Tag p.E207* NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 207 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GACCATAAAGGAGCGGGCGCT 0.597000 22 190 8.24728e-16 9.07689e-16 1 1 0 LEKR1 389170 broad.mit.edu 37 3 156763348 156763348 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:156763348G>C ENST00000470811.1 + 14 2311 c.976G>C c.(976-978)Gga>Cga p.G326R LEKR1_ENST00000356539.4_Missense_Mutation_p.G630R D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTCTGAAAAAGGAATCCAAAT 0.532000 37 61 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900173 151900173 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chrX:151900173C>T ENST00000393900.3 - 3 981 c.628G>A c.(628-630)Gca>Aca p.A210T CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.A210T|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A210T NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 210 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCTCTTTTGCGATTATGGCC 0.577000 7 362 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71426711 71426711 + Missense_Mutation SNP T T C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr17:71426711T>C ENST00000392650.3 - 12 1522 c.1522A>G c.(1522-1524)Atc>Gtc p.I508V SDK2_ENST00000388726.3_Missense_Mutation_p.I508V NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 508 Ig-like C2-type 6. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GTGCCCTTGATGACACTCTGA 0.617000 19 5 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79264256 79264256 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:79264256C>A ENST00000419573.3 - 27 3955 c.3681G>T c.(3679-3681)gaG>gaT p.E1227D RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1211D|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E443D NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1229 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ACTGGCGAATCTCTCGGATAA 0.478000 51 173 1.17673e-23 1.36795e-23 1 1 0 TMEM161A 54929 broad.mit.edu 37 19 19243552 19243552 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:19243552C>G ENST00000450333.2 - 4 237 c.200G>C c.(199-201)gGc>gCc p.G67A TMEM161A_ENST00000592369.1_5'UTR|TMEM161A_ENST00000162044.9_Missense_Mutation_p.G67A|TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67A NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 67 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) CTCACTAAGGCCATTGGCCCA 0.632000 14 24 0 0 1 0 0 ANAPC16 119504 broad.mit.edu 37 10 73983758 73983758 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:73983758C>T ENST00000299381.4 + 2 204 c.86C>T c.(85-87)gCc>gTc p.A29V ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 29 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 TCAGACCTTGCCCCACCACGG 0.493000 4 117 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688689 55688689 + Missense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:55688689A>T ENST00000358433.2 - 1 327 c.328T>A c.(328-330)Ttt>Att p.F110I NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGGAGGTAAAACTCAGTAACT 0.393000 36 54 0 0 1 0 0 GABARAPL2 11345 broad.mit.edu 37 16 75601963 75601963 + Missense_Mutation SNP A A C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:75601963A>C ENST00000037243.2 + 3 255 c.119A>C c.(118-120)cAg>cCg p.Q40P GABARAPL2_ENST00000565057.1_Missense_Mutation_p.Q40P|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Intron NM_007285.6 NP_009216.1 P60520 GBRL2_HUMAN GABA(A) receptor-associated protein-like 2 40 Interaction with GABRG2 (Potential). autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding lung(1)|ovary(1) 2 TCAGGCTCTCAGATTGTTGAC 0.478000 78 104 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163179 47163179 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:47163179C>G ENST00000409792.3 - 3 2989 c.2947G>C c.(2947-2949)Gaa>Caa p.E983Q NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 983 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.E983*(1)|p.E480*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTCCTCTTTCATCTAAAGAG 0.393000 """N, F, S, Mis""" clear cell renal carcinoma 5 116 0 0 1 0 0 DNAJC17 55192 broad.mit.edu 37 15 41068427 41068427 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:41068427G>C ENST00000220496.4 - 6 475 c.445C>G c.(445-447)Cag>Gag p.Q149E NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 149 protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGGCGTATCTGCTCCCGGATG 0.607000 13 36 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 941650 941650 + Silent SNP C C T rs34645349 byFrequency TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:941650C>T ENST00000264771.4 + 2 308 c.123C>T c.(121-123)gaC>gaT p.D41D TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 41 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTTCAGTGACGCCCTGCTGT 0.672000 48 23 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53756362 53756362 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:53756362C>A ENST00000288139.3 + 13 1705 c.1587C>A c.(1585-1587)aaC>aaA p.N529K CACNA1D_ENST00000422281.2_Missense_Mutation_p.N509K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.N509K NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 509 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTCGCTGGAACCGATTCAATC 0.448000 35 87 2.05212e-20 2.3274e-20 1 1 0 LSG1 55341 broad.mit.edu 37 3 194390737 194390737 + Splice_Site SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:194390737C>T ENST00000265245.5 - 2 541 c.e2+1 NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AAACAACTTACCAGCTACAAA 0.443000 38 122 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42874353 42874353 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:42874353G>A ENST00000334370.4 + 38 7281 c.6646G>A c.(6646-6648)Gag>Aag p.E2216K MEGF8_ENST00000251268.6_Missense_Mutation_p.E2283K|MEGF8_ENST00000378073.4_5'UTR NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2283 EGF-like 5. 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) CAGCCACTGTGAGCAGTGCCT 0.622000 17 42 0 0 1 0 0 OTUD5 55593 broad.mit.edu 37 X 48781242 48781242 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chrX:48781242G>A ENST00000156084.4 - 7 1426 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W OTUD5_ENST00000396743.3_Missense_Mutation_p.R451W|OTUD5_ENST00000376488.3_Missense_Mutation_p.R451W|OTUD5_ENST00000428668.2_Missense_Mutation_p.R234W NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 456 negative regulation of type I interferon production cysteine-type peptidase activity p.R427G(1)|p.R456G(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 GCTGAACTCCGCTGCCGCGGG 0.637000 10 6 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183513602 183513602 + Nonsense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:183513602G>T ENST00000367537.3 + 16 2101 c.1906G>T c.(1906-1908)Gga>Tga p.G636* SMG7_ENST00000507469.1_Nonsense_Mutation_p.G607*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.G565*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.G607*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.G611*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.G653* Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 653 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCATCACCCTGGAGCCTTCCC 0.423000 77 42 1.39921e-30 1.65766e-30 1 1 0 ARHGAP24 83478 broad.mit.edu 37 4 86916451 86916451 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:86916451G>C ENST00000395184.1 + 9 2110 c.1644G>C c.(1642-1644)caG>caC p.Q548H ARHGAP24_ENST00000264343.4_Missense_Mutation_p.Q455H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q453H NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 548 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) ATGACAAGCAGAGCATTGACA 0.502000 30 59 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23306136 23306136 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:23306136G>C ENST00000381990.2 + 7 1216 c.1055G>C c.(1054-1056)gGa>gCa p.G352A GPNMB_ENST00000258733.4_Splice_Site_p.G340_splice|GPNMB_ENST00000539136.1_Splice_Site_p.G241_splice|GPNMB_ENST00000453162.2_Missense_Mutation_p.G294A NM_001005340.1|NM_002510.2 NP_001005340.1|NP_002501.1 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 352 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) AACACCCCAGGACCTGCTGGT 0.388000 24 94 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88658688 88658688 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:88658688T>A ENST00000340700.5 - 5 1184 c.733A>T c.(733-735)Att>Ttt p.I245F KCNK10_ENST00000319231.5_Missense_Mutation_p.I250F|KCNK10_ENST00000312350.5_Missense_Mutation_p.I250F NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 245 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ACAAACACAATGCAGCCGGCC 0.502000 9 62 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18546692 18546692 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:18546692C>A ENST00000545187.1 - 5 851 c.565G>T c.(565-567)Gat>Tat p.D189Y ISYNA1_ENST00000457269.3_Missense_Mutation_p.D285Y|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D211Y|ISYNA1_ENST00000317018.6_Missense_Mutation_p.D137Y|ISYNA1_ENST00000338128.7_Missense_Mutation_p.D339Y Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 339 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 TTCTCCCCATCGTTGTTGCCC 0.592000 7 201 2.7689e-08 2.89334e-08 1 1 0 SLC22A11 55867 broad.mit.edu 37 11 64335155 64335155 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:64335155C>T ENST00000301891.4 + 7 1517 c.1143C>T c.(1141-1143)ttC>ttT p.F381F SLC22A11_ENST00000377581.3_Silent_p.F381F|SLC22A11_ENST00000377585.3_Intron NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 381 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) AGGCCCTCTTCGGGGCCGTGG 0.652000 44 76 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45480359 45480359 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:45480359G>A ENST00000334940.6 + 6 633 c.499G>A c.(499-501)Gag>Aag p.E167K RASSF4_ENST00000374417.2_Silent_p.*127*|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Missense_Mutation_p.E158K Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 158 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CGCCCCCGGTGAGGCCCAGCG 0.672000 54 101 0 0 1 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63858695 63858695 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:63858695C>T ENST00000337537.3 - 9 1500 c.898G>A c.(898-900)Gaa>Aaa p.E300K PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E300K|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E224K NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 300 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTTACTGGTTCTGTGAGTGAA 0.289000 12 42 0 0 1 0 0 LOC728554 728554 broad.mit.edu 37 5 177310701 177310701 + RNA SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr5:177310701C>G ENST00000506672.1 + 0 998 NR_003615.2 TGTGAGTCTCCGACCTTCACA 0.473000 8 41 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680442 114680442 + Missense_Mutation SNP C C A rs139165674 byFrequency TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:114680442C>A ENST00000393296.1 - 3 823 c.746G>T c.(745-747)cGt>cTt p.R249L SYT6_ENST00000369547.1_Missense_Mutation_p.R164L Q5T7P8 SYT6_HUMAN synaptotagmin VI 249 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.R164H(2) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCAGGATACGCACAATCAG 0.542000 41 72 7.63091e-17 8.4991e-17 1 1 0 GSG1 83445 broad.mit.edu 37 12 13243575 13243575 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:13243575C>A ENST00000337630.6 - 2 254 c.187G>T c.(187-189)Gtg>Ttg p.V63L GSG1_ENST00000457134.2_Missense_Mutation_p.V63L|GSG1_ENST00000396302.3_Missense_Mutation_p.V63L|GSG1_ENST00000432710.2_Missense_Mutation_p.V76L|GSG1_ENST00000537302.1_Missense_Mutation_p.V63L|GSG1_ENST00000396310.2_Missense_Mutation_p.V60L|GSG1_ENST00000324458.8_Missense_Mutation_p.V76L|GSG1_ENST00000351606.6_Missense_Mutation_p.V76L NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 63 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) TCCAGGGACACTGGCATGTCA 0.567000 35 86 1.26612e-14 1.38528e-14 1 1 0 NPHS1 4868 broad.mit.edu 37 19 36336673 36336673 + Missense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:36336673G>T ENST00000378910.5 - 13 1654 c.1655C>A c.(1654-1656)gCc>gAc p.A552D NPHS1_ENST00000353632.6_Missense_Mutation_p.A552D NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 552 Ig-like C2-type 6. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGATGCGTTGGCCAGGATCGT 0.637000 10 34 5.50884e-06 5.66101e-06 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144921929 144921929 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:144921929C>T ENST00000529945.1 - 5 2028 c.1589G>A c.(1588-1590)cGc>cAc p.R530H PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R433H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R367H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R367H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R530H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R504H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R154H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R504H Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 367 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) AGCCAGTTGGCGCTCTTTCTG 0.478000 T PDGFRB MPD 7 693 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72057134 72057134 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:72057134G>A ENST00000572887.1 + 7 1067 c.890G>A c.(889-891)cGc>cAc p.R297H DHODH_ENST00000219240.4_Missense_Mutation_p.R297H|DHODH_ENST00000573922.1_3'UTR Q02127 PYRD_HUMAN dihydroorotate dehydrogenase (quinone) 297 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GGTGCCCTGCGCTCTGAAACA 0.562000 33 39 0 0 1 0 0 RASL10A 10633 broad.mit.edu 37 22 29709456 29709456 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr22:29709456C>G ENST00000216101.6 - 3 955 c.446G>C c.(445-447)cGc>cCc p.R149P RASL10A_ENST00000401450.3_3'UTR NM_006477.4 NP_006468.1 Q92737 RSLAA_HUMAN RAS-like, family 10, member A 149 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1) 1 CCAGCCCCTGCGCACTAGGGC 0.736000 4 4 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214103 7214103 + Silent SNP G G A rs149003494 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:7214103G>A ENST00000361972.4 - 19 2259 c.2169C>T c.(2167-2169)gaC>gaT p.D723D SFMBT2_ENST00000397167.1_Silent_p.D723D NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 723 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 TGGCGTCAGCGTCCTCCTCTT 0.682000 7 26 0 0 1 0 0 E2F5 1875 broad.mit.edu 37 8 86126067 86126067 + Missense_Mutation SNP T T G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:86126067T>G ENST00000418930.2 + 8 1204 c.1008T>G c.(1006-1008)gaT>gaG p.D336E E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.D337E|E2F5_ENST00000517476.1_Missense_Mutation_p.D176E|E2F5_ENST00000256117.5_Missense_Mutation_p.D338E|E2F5_ENST00000521429.1_Missense_Mutation_p.D164E Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 337 RBL2 association (Potential).|Transactivation (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 GAGTTTGTGATCTGTTTGATG 0.348000 16 38 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21000492 21000492 + Missense_Mutation SNP A A C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:21000492A>C ENST00000274695.4 + 11 1111 c.944A>C c.(943-945)tAc>tCc p.Y315S CDKAL1_ENST00000378610.1_Missense_Mutation_p.Y315S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.Y245S NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 315 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CCCAGAGTCTACGCTTTTCTG 0.393000 52 136 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45475316 45475316 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:45475316C>G ENST00000361462.2 + 5 2933 c.2750C>G c.(2749-2751)cCa>cGa p.P917R FAM179B_ENST00000361577.3_Missense_Mutation_p.P917R|FAM179B_ENST00000382233.2_Missense_Mutation_p.P917R|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 917 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 CCTCCCATACCAAGGGGAATA 0.438000 44 90 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38565632 38565632 + Missense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:38565632G>T ENST00000287675.5 + 6 982 c.886G>T c.(886-888)Gtg>Ttg p.V296L EXOG_ENST00000422077.2_Missense_Mutation_p.V246L|EXOG_ENST00000358249.2_Intron NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 296 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 TATCTGCTCTGTGGACACCTG 0.448000 82 158 2.05912e-35 2.48699e-35 1 1 0 PPM1B 5495 broad.mit.edu 37 2 44459467 44459467 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:44459467C>G ENST00000378551.2 + 6 1559 c.1147C>G c.(1147-1149)Cta>Gta p.L383V PPM1B_ENST00000378540.4_Intron NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 383 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCTGGAGATCTAGAAGACCC 0.333000 31 72 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33092942 33092942 + Missense_Mutation SNP T T C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:33092942T>C ENST00000306065.4 - 26 2904 c.2746A>G c.(2746-2748)Act>Gct p.T916A NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 916 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ATCTTAACAGTGACATACTCC 0.378000 46 88 0 0 1 0 0 TMEM68 137695 broad.mit.edu 37 8 56652716 56652716 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:56652716C>G ENST00000434581.2 - 8 1149 c.950G>C c.(949-951)aGt>aCt p.S317T TMEM68_ENST00000334667.2_Missense_Mutation_p.S250T|TMEM68_ENST00000519784.1_Missense_Mutation_p.S136T Q96MH6 TMM68_HUMAN transmembrane protein 68 317 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) TAACAAAGCACTCATAATGTT 0.308000 4 142 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25745572 25745572 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:25745572C>T ENST00000357816.2 - 2 661 c.186G>A c.(184-186)aaG>aaA p.K62K AMER2_ENST00000381853.3_Silent_p.K62K|AMER2_ENST00000515384.1_Silent_p.K62K APC membrane recruitment protein 2 CTTTATTAATCTTCCCCGACG 0.597000 14 31 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42298223 42298223 + Missense_Mutation SNP T T G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:42298223T>G ENST00000399518.3 - 4 976 c.490A>C c.(490-492)Aag>Cag p.K164Q PLA2G4E_ENST00000413860.2_Missense_Mutation_p.K135Q NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 146 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGGTTTTCTTTCGGAAACAG 0.507000 10 53 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160846552 160846552 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:160846552C>G ENST00000326245.3 - 8 959 c.844G>C c.(844-846)Gat>Cat p.D282H NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 282 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) CCAGAAAAATCTCCACACTGC 0.483000 36 99 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30822217 30822217 + Splice_Site SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr12:30822217C>G ENST00000256079.4 - 10 1383 c.e10-1 IPO8_ENST00000544829.1_Splice_Site NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAGAGATATTCTAAAATGAGA 0.308000 25 31 0 0 1 0 0 RNASE13 440163 broad.mit.edu 37 14 21502043 21502043 + Nonsense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:21502043G>C ENST00000382951.3 - 2 542 c.405C>G c.(403-405)taC>taG p.Y135* NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_3'UTR NM_001012264.3 NP_001012264.1 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 (non-active) 135 extracellular region nucleic acid binding|pancreatic ribonuclease activity cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) AGCAGAGTAGGTAGAGCTTCT 0.532000 61 115 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229640 37229640 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:37229640T>A ENST00000233099.5 - 32 5221 c.5126A>T c.(5125-5127)aAa>aTa p.K1709I HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1709 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CACAAGAGATTTTCCAGGAAT 0.443000 33 69 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138221913 138221913 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr5:138221913G>C ENST00000302763.7 + 8 1165 c.1075G>C c.(1075-1077)Gaa>Caa p.E359Q CTNNA1_ENST00000355078.5_Missense_Mutation_p.E256Q|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E359Q NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 359 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGGACGTAAAGAAAGAAGTGA 0.378000 36 33 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33332780 33332780 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:33332780C>A ENST00000315596.10 + 28 3484 c.3298C>A c.(3298-3300)Caa>Aaa p.Q1100K NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1100 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTTCTTCACTCAACCTGACAA 0.383000 40 96 1.32136e-16 1.46293e-16 1 1 0 GJC1 10052 broad.mit.edu 37 17 42882287 42882287 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr17:42882287T>A ENST00000426548.1 - 3 1168 c.899A>T c.(898-900)cAg>cTg p.Q300L GJC1_ENST00000330514.4_Missense_Mutation_p.Q300L|GJC1_ENST00000592524.1_Missense_Mutation_p.Q300L|GJC1_ENST00000590758.1_Missense_Mutation_p.Q300L NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 300 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TTCGGTGTACTGGATTTGATC 0.488000 70 158 0 0 1 0 0 MEX3B 84206 broad.mit.edu 37 15 82336850 82336850 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:82336850C>G ENST00000329713.4 - 2 796 c.361G>C c.(361-363)Gcc>Ccc p.A121P MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 121 KH 1. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CGAGCCATGGCCACATCCTCC 0.592000 54 38 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167031787 167031787 + Silent SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:167031787A>G ENST00000392766.2 - 16 1732 c.1392T>C c.(1390-1392)tcT>tcC p.S464S ZBBX_ENST00000392767.2_Silent_p.S464S|ZBBX_ENST00000307529.5_Silent_p.S464S|ZBBX_ENST00000392764.1_Silent_p.S435S|ZBBX_ENST00000455345.2_Silent_p.S464S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 464 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TATAATAAGTAGAGCTGTTTC 0.308000 65 160 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36003524 36003524 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:36003524C>T ENST00000339686.3 - 2 771 c.595G>A c.(595-597)Gga>Aga p.G199R DMKN_ENST00000440396.1_Missense_Mutation_p.G199R|DMKN_ENST00000424570.2_Missense_Mutation_p.G199R|DMKN_ENST00000419602.1_Missense_Mutation_p.G199R|DMKN_ENST00000451297.2_Missense_Mutation_p.G199R|DMKN_ENST00000447113.2_Missense_Mutation_p.G199R|DMKN_ENST00000429837.1_Missense_Mutation_p.G199R|DMKN_ENST00000418261.1_Missense_Mutation_p.G199R NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 199 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTGGCCCTCCATTGCCTCCT 0.612000 37 58 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64335076 64335076 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:64335076C>T ENST00000301891.4 + 7 1438 c.1064C>T c.(1063-1065)tCt>tTt p.S355F SLC22A11_ENST00000377581.3_Missense_Mutation_p.S355F|SLC22A11_ENST00000377585.3_Intron NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 355 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CGCAGTTTCTCTCTATTGATC 0.637000 53 100 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 678725 678725 + Missense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr18:678725A>T ENST00000319815.6 - 4 1463 c.199T>A c.(199-201)Tta>Ata p.L67I ENOSF1_ENST00000251101.7_Missense_Mutation_p.L297I|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.L221I|ENOSF1_ENST00000383578.3_Missense_Mutation_p.L215I|ENOSF1_ENST00000340116.7_Intron Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 297 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 CCAATTCCTAATGGGACCAGT 0.478000 4 150 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67855743 67855743 + Nonsense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:67855743C>T ENST00000262345.1 + 15 2618 c.1978C>T c.(1978-1980)Cag>Tag p.Q660* IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000541374.1_Intron|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.Q574*|IL12RB2_ENST00000371000.1_Intron NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 660 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 CCTCAGACCTCAGTGGTGTAG 0.463000 24 51 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38084919 38084919 + Silent SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr21:38084919C>G ENST00000290399.6 + 3 958 c.345C>G c.(343-345)tcC>tcG p.S115S SIM2_ENST00000430056.3_Silent_p.S115S NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 115 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TAGGCTTATCCCAGGTGGGTA 0.378000 34 57 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794734 237794734 + Missense_Mutation SNP A A C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:237794734A>C ENST00000366574.2 + 42 6765 c.6448A>C c.(6448-6450)Atg>Ctg p.M2150L RYR2_ENST00000360064.6_Missense_Mutation_p.M2148L|RYR2_ENST00000542537.1_Missense_Mutation_p.M2134L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2150 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAGGGATATTATGAATAACAA 0.413000 4 16 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 110267 110267 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:110267C>T ENST00000262316.6 - 13 1811 c.1669G>A c.(1669-1671)Gag>Aag p.E557K NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 557 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GAGGAGGGCTCATCACACACC 0.602000 23 33 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113653031 113653031 + Missense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:113653031G>T ENST00000361127.4 + 13 1843 c.1645G>T c.(1645-1647)Gtt>Ttt p.V549F LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 549 Ig-like C2-type 1. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGAGAATTTTGTTCGTTATTG 0.423000 60 127 2.93687e-30 3.45733e-30 1 1 0 TTC21A 199223 broad.mit.edu 37 3 39167822 39167822 + Missense_Mutation SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:39167822A>G ENST00000301819.6 + 12 1664 c.1487A>G c.(1486-1488)aAa>aGa p.K496R TTC21A_ENST00000440121.1_Missense_Mutation_p.K447R|TTC21A_ENST00000431162.2_Missense_Mutation_p.K496R NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 496 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCTGTAGTCAAAGCAGCACCA 0.567000 6 76 0 0 1 0 0 GNRHR 2798 broad.mit.edu 37 4 68619925 68619925 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:68619925G>A ENST00000226413.4 - 1 153 c.129C>T c.(127-129)ttC>ttT p.F43F GNRHR_ENST00000420975.2_Silent_p.F43F|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 43 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) GAAAAAGGAAGAAAGTAACCG 0.443000 31 72 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45929191 45929191 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr21:45929191C>T ENST00000323084.4 - 10 1710 c.1645G>A c.(1645-1647)Gat>Aat p.D549N TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.D481N NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 549 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ATCTCCACATCGTAGCTGTGA 0.532000 16 28 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71694509 71694509 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chrX:71694509C>T ENST00000373561.4 - 10 1150 c.809G>A c.(808-810)aGc>aAc p.S270N HDAC8_ENST00000373573.3_Intron|HDAC8_ENST00000373560.2_3'UTR|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373571.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_3'UTR|HDAC8_ENST00000373559.4_3'UTR Q9BY41 HDAC8_HUMAN histone deacetylase 8 0 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TCAGACAAGGCTATGCAAATG 0.443000 15 56 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938649 38938649 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:38938649G>C ENST00000302328.3 - 14 2288 c.2090C>G c.(2089-2091)tCt>tGt p.S697C SCN11A_ENST00000444237.2_Missense_Mutation_p.S697C|SCN11A_ENST00000450244.1_Missense_Mutation_p.S697C|SCN11A_ENST00000456224.3_Missense_Mutation_p.S697C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 697 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) GGCTCCGACAGAGTTGCCGAT 0.433000 31 38 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140990941 140990941 + Missense_Mutation SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr9:140990941G>C ENST00000277549.5 + 37 5251 c.2682G>C c.(2680-2682)ttG>ttC p.L894F CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1698F|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L64F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1701F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L1700F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1699F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1700F Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1700 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGCAGATGTTGAACCTCTTTG 0.572000 25 68 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233203 28233203 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:28233203T>A ENST00000305242.5 - 12 1783 c.1691A>T c.(1690-1692)aAg>aTg p.K564M ARMC4_ENST00000545014.1_Missense_Mutation_p.K89M|ARMC4_ENST00000537576.1_Missense_Mutation_p.K256M NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 564 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 TCTTTTAAACTTGGCAACATT 0.498000 20 31 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368468 37368468 + Silent SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:37368468A>T ENST00000361924.2 + 14 5465 c.5091A>T c.(5089-5091)tcA>tcT p.S1697S GOLGA4_ENST00000356847.4_Silent_p.S1719S|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1697 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AACTTAAGTCAGTGGAAAGTT 0.378000 65 107 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149523244 149523244 + RNA SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:149523244C>T ENST00000378016.2 + 0 14330 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCAGTTGCTCGGCCCCCTGT 0.647000 53 57 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107219718 107219718 + Nonsense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:107219718A>T ENST00000282251.5 - 14 2174 c.2147T>A c.(2146-2148)tTg>tAg p.L716* CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.L716* NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 716 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) ATGGTGCTGCAAAGGGACTAT 0.388000 12 29 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204210863 204210863 + Missense_Mutation SNP A A C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:204210863A>C ENST00000272203.3 - 16 2568 c.2252T>G c.(2251-2253)gTg>gGg p.V751G PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V771G NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 751 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CCTGGTGGGCACAAGGCTGAT 0.542000 38 54 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49819806 49819806 + Missense_Mutation SNP T T A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:49819806T>A ENST00000335847.4 - 3 204 c.103A>T c.(103-105)Acc>Tcc p.T35S CRISP1_ENST00000536021.1_Missense_Mutation_p.T35S|CRISP1_ENST00000355791.2_Missense_Mutation_p.T35S|CRISP1_ENST00000507853.1_Missense_Mutation_p.T35S|CRISP1_ENST00000505118.1_Missense_Mutation_p.T35S|CRISP1_ENST00000329411.5_Missense_Mutation_p.T35S NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 35 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) GGCAAGTCGGTGACGAGCTTA 0.373000 42 103 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51049377 51049377 + Silent SNP G G A rs140546895 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:51049377G>A ENST00000396153.2 - 11 1429 c.978C>T c.(976-978)aaC>aaT p.N326N FAF1_ENST00000545823.1_Silent_p.N84N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Silent_p.N326N NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 326 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.N326N(1)|p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CATTTTCTGCGTTTTCTGGCA 0.294000 21 21 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr21:11058168A>T ENST00000470054.1 - 0 479 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) TACATCTTTCAGGAGCTTGGT 0.388000 4 128 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245335 59245335 + Missense_Mutation SNP A A G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:59245335A>G ENST00000530162.1 + 1 490 c.433A>G c.(433-435)Aca>Gca p.T145A NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CATTGGGCTCACAGTGGCTGC 0.512000 43 76 0 0 1 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 5 225 8.12818e-05 8.21653e-05 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 5 132 0 0 1 0 0 FOXC2 2303 broad.mit.edu 37 16 86601504 86601504 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:86601504C>T ENST00000320354.4 + 1 648 c.563C>T c.(562-564)cCg>cTg p.P188L NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 188 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GAGCCGCCCCCGGCGGCGTCC 0.701000 Late-onset Hereditary Lymphedema 17 37 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 5 145 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677735 149677735 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr5:149677735C>T ENST00000328668.7 - 2 1331 c.752G>A c.(751-753)cGc>cAc p.R251H NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 251 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGCGGTAGCGGTACAGGTA 0.627000 14 46 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44567730 44567730 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr20:44567730C>G ENST00000372409.3 + 3 456 c.92C>G c.(91-93)cCa>cGa p.P31R NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 31 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 CCCTGTTCTCCAAAGCCAATC 0.632000 22 49 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 8 479 0 0 1 0 0 NMT2 9397 broad.mit.edu 37 10 15183456 15183456 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:15183456C>G ENST00000378165.4 - 2 291 c.211G>C c.(211-213)Gat>Cat p.D71H NMT2_ENST00000378150.1_Silent_p.L43L|NMT2_ENST00000535341.1_Silent_p.L43L|NMT2_ENST00000540259.1_5'UTR NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 71 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 TCCTGGGAATCAGATGCCGAG 0.433000 18 49 0 0 1 0 0 STH 246744 broad.mit.edu 37 17 44076946 44076946 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr17:44076946C>G ENST00000537309.1 + 1 331 c.301C>G c.(301-303)Cag>Gag p.Q101E MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000576518.1_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 101 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 AGGCCCCTTTCAGGGCCAGAA 0.587000 7 23 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133623563 133623563 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:133623563C>T ENST00000519595.1 - 9 1119 c.1021G>A c.(1021-1023)Gtg>Atg p.V341M LRRC6_ENST00000518642.1_Missense_Mutation_p.V341M|LRRC6_ENST00000250173.1_Missense_Mutation_p.V341M Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 341 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ATTACTCGCACGTAAGTTGGT 0.318000 61 41 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32786429 32786429 + Splice_Site SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:32786429G>A ENST00000380250.3 + 35 5088 c.4591_splice c.e35-1 p.G1531_splice NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1531 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCATCTACAGGAACCACCTCT 0.418000 12 14 0 0 1 0 0 IFI27 3429 broad.mit.edu 37 14 94578103 94578103 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr14:94578103C>T ENST00000555744.1 + 2 263 c.75C>T c.(73-75)gcC>gcT p.A25A IFI27_ENST00000444961.1_Silent_p.A25A|IFI27_ENST00000298902.5_Silent_p.A25A|IFI27_ENST00000557098.1_Intron|IFI27_ENST00000557634.1_Silent_p.A25A|IFI27_ENST00000448882.1_Silent_p.A25A P40305 IFI27_HUMAN interferon, alpha-inducible protein 27 25 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion breast(1)|lung(3) 4 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) CTGGCTCTGCCGTAGTTTTGC 0.662000 17 25 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375708 93375708 + Silent SNP G G A rs76821927 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr9:93375708G>A ENST00000375765.3 - 2 790 c.402C>T c.(400-402)agC>agT p.S134S NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 134 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CCTCCGCCTCGCTGCTCTGCA 0.582000 36 51 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45412980 45412980 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:45412980C>G ENST00000558996.1 - 4 283 c.229G>C c.(229-231)Gag>Cag p.E77Q DUOXA1_ENST00000267803.4_Missense_Mutation_p.E122Q|DUOXA1_ENST00000430224.2_Missense_Mutation_p.E77Q|DUOXA1_ENST00000560572.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E122Q|DUOXA1_ENST00000558422.1_Missense_Mutation_p.E77Q NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 122 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) TTGATGGTCTCATTCAGCTGC 0.592000 55 120 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21992531 21992531 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:21992531C>G ENST00000594012.1 - 7 804 c.290G>C c.(289-291)aGa>aCa p.R97T ZNF43_ENST00000354959.4_Missense_Mutation_p.R103T|ZNF43_ENST00000598381.1_Missense_Mutation_p.R97T|ZNF43_ENST00000595461.1_Missense_Mutation_p.R97T NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GTTTTTATATCTTCTCAGTGT 0.318000 15 78 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46807198 46807198 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:46807198C>T ENST00000377670.4 + 2 101 c.70C>T c.(70-72)Cgc>Tgc p.R24C HIF3A_ENST00000300862.3_Missense_Mutation_p.R22C|HIF3A_ENST00000420102.2_Silent_p.P21P|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000600383.1_Silent_p.P3P|HIF3A_ENST00000472815.1_Silent_p.P3P|HIF3A_ENST00000244303.6_Silent_p.P3P NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGATGCGGCCCGCAGCCGGCG 0.657000 4 15 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520867 62520867 + Silent SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr11:62520867C>G ENST00000394807.3 - 2 545 c.420G>C c.(418-420)ctG>ctC p.L140L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 140 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TATCCCCTCTCAGGGTCAGCT 0.547000 42 77 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132862907 132862907 + Splice_Site SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr9:132862907G>A ENST00000372406.1 + 11 1446 c.e11-1 GPR107_ENST00000347136.6_Splice_Site|GPR107_ENST00000372410.3_Splice_Site NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TTTGATTTCAGATTGACTACC 0.408000 61 109 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103364278 103364278 + Nonsense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:103364278G>A ENST00000358392.2 - 56 4545 c.4228C>T c.(4228-4230)Cag>Tag p.Q1410* COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q1282*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1359*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1398* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1398 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCAGGTCCCTGAGGACCGACT 0.478000 24 34 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840472 142840472 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:142840472G>A ENST00000309575.3 + 2 2198 c.814G>A c.(814-816)Gtg>Atg p.V272M NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 272 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CAAGGAGGTCGTGGGGTTGGT 0.657000 7 16 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51773320 51773320 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr15:51773320C>G ENST00000251076.5 - 24 6270 c.5983G>C c.(5983-5985)Ggt>Cgt p.G1995R RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1359R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1995R NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1995 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATCACTAAACCAACAGCATCG 0.423000 23 239 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143823693 143823693 + Silent SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:143823693C>A ENST00000002165.5 - 4 817 c.762G>T c.(760-762)cgG>cgT p.R254R FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 254 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CTACTGTGCCCCGAACTGGGC 0.383000 33 16 4.11147e-13 4.42043e-13 1 1 0 VWA8 23078 broad.mit.edu 37 13 42259355 42259355 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:42259355C>A ENST00000379310.3 - 35 4223 c.4155G>T c.(4153-4155)tgG>tgT p.W1385C NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 ATGGTCTCTTCCAAGAATAAA 0.383000 16 44 2.35188e-11 2.49971e-11 1 1 0 SCNN1B 6338 broad.mit.edu 37 16 23364196 23364196 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:23364196C>G ENST00000343070.2 + 3 562 c.386C>G c.(385-387)cCt>cGt p.P129R SCNN1B_ENST00000307331.5_Missense_Mutation_p.P174R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P129R|SCNN1B_ENST00000569789.1_3'UTR NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 129 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ATCCTGGCTCCTGAGCTAAGC 0.542000 42 59 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904393 180904393 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:180904393G>A ENST00000367588.4 + 5 1403 c.1348G>A c.(1348-1350)Gtg>Atg p.V450M KIAA1614_ENST00000367587.1_Missense_Mutation_p.V71M NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 450 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCCGTCGCACGTGCGCTTTGA 0.701000 4 9 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26203812 26203812 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:26203812C>T ENST00000264712.3 - 1 1554 c.975G>A c.(973-975)ctG>ctA p.L325L KIF3C_ENST00000405914.1_Silent_p.L325L NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 325 Kinesin-motor. 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) AGTCCTGGAGCAGCCGGGTCA 0.597000 18 54 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6978337 6978337 + Silent SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr18:6978337C>T ENST00000389658.3 - 43 6141 c.6048G>A c.(6046-6048)acG>acA p.T2016T NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2016 Domain II and I. 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 p.T2016T(1) 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) GGCTTGCAGACGTGGCCAGCT 0.512000 24 111 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20937129 20937129 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr22:20937129C>T ENST00000263205.7 + 11 1481 c.1412C>T c.(1411-1413)tCt>tTt p.S471F MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.S405F|MED15_ENST00000292733.7_Missense_Mutation_p.S431F|MED15_ENST00000425759.2_Missense_Mutation_p.S320F|MED15_ENST00000541476.1_Missense_Mutation_p.S405F|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S360F NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 471 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GGCTGCAGCTCTGGCCCTGCC 0.692000 42 65 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211192213 211192213 + Missense_Mutation SNP A A T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:211192213A>T ENST00000367007.4 - 6 1113 c.944T>A c.(943-945)gTg>gAg p.V315E KCNH1_ENST00000271751.4_Missense_Mutation_p.V315E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 315 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AACCTCATCCACGTTCTCAAA 0.478000 14 114 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14273620 14273620 + Silent SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr19:14273620G>A ENST00000340736.6 - 6 1305 c.1008C>T c.(1006-1008)gaC>gaT p.D336D CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D331D|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 336 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCGCCTCGCTGTCATCATCCA 0.607000 19 42 0 0 1 0 0 PCBP1 5093 broad.mit.edu 37 2 70315482 70315482 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr2:70315482G>A ENST00000303577.5 + 1 898 c.607G>A c.(607-609)Gac>Aac p.D203N PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 203 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 TCGGTGCAGCGACGCTGCGGG 0.627000 25 42 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643562 36643562 + Missense_Mutation SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:36643562C>G ENST00000316156.4 + 8 1810 c.1357C>G c.(1357-1359)Ctg>Gtg p.L453V MAP7D1_ENST00000373150.4_Missense_Mutation_p.L458V|MAP7D1_ENST00000373151.2_Missense_Mutation_p.L490V|MAP7D1_ENST00000373148.4_Missense_Mutation_p.L36V Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 490 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) AGGCCACACTCTGCCTCCAAA 0.682000 23 35 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100459413 100459413 + Missense_Mutation SNP C C T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:100459413C>T ENST00000354161.3 + 12 1716 c.1591C>T c.(1591-1593)Cgg>Tgg p.R531W SLC12A9_ENST00000540482.1_Missense_Mutation_p.R531W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R442W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R442W|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R531W NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 531 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GAAGTTCTGGCGGCCCCAGCT 0.632000 4 126 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59514673 59514673 + Missense_Mutation SNP G G A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:59514673G>A ENST00000038176.3 - 14 1281 c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R388W NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 357 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) CTGAGATCCCGGAAGGTTCCT 0.383000 12 115 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84132848 84132848 + Silent SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr16:84132848C>A ENST00000343411.3 - 3 726 c.231G>T c.(229-231)ctG>ctT p.L77L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 77 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CACTGCTCTTCAGGGCACTTG 0.348000 47 83 1.6237e-14 1.76613e-14 1 1 0 C8orf33 65265 broad.mit.edu 37 8 146278031 146278031 + Silent SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr8:146278031G>T ENST00000331434.6 + 2 180 c.66G>T c.(64-66)gcG>gcT p.A22A NM_023080.2 NP_075568.1 Q9H7E9 CH033_HUMAN chromosome 8 open reading frame 33 22 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) CTCCCTGCGCGTCCCGCGGAG 0.687000 88 38 7.63117e-38 9.27711e-38 1 1 0 PPP2R5D 5528 broad.mit.edu 37 6 42975720 42975720 + Silent SNP C C G TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr6:42975720C>G ENST00000485511.1 + 7 953 c.774C>G c.(772-774)ctC>ctG p.L258L PPP2R5D_ENST00000472118.1_Silent_p.L250L|PPP2R5D_ENST00000394110.3_Silent_p.L226L|PPP2R5D_ENST00000461010.1_Silent_p.L152L NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 258 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGACTTCCTCAAGACCATTT 0.552000 45 94 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176675230 176675230 + Nonsense_Mutation SNP G G T TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr5:176675230G>T ENST00000439151.2 + 11 4591 c.4546G>T c.(4546-4548)Gag>Tag p.E1516* NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1247*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1413*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1247* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1516 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGAGACTGTTGAGGAAGGTGT 0.488000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 22 13 7.45023e-12 7.96403e-12 1 1 0 DZIP1 22873 broad.mit.edu 37 13 96293908 96293908 + Missense_Mutation SNP C C A TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:96293908C>A ENST00000347108.3 - 3 670 c.238G>T c.(238-240)Gtg>Ttg p.V80L DZIP1_ENST00000361396.2_Missense_Mutation_p.V80L|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Missense_Mutation_p.V80L|DZIP1_ENST00000361156.3_Missense_Mutation_p.V80L Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 80 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GCCCCCGCCACCTTGTCCACG 0.662000 38 70 2.19962e-31 2.62263e-31 1 1 0 AADAC 13 broad.mit.edu 37 3 151545711 151545711 + Silent SNP G G C TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr3:151545711G>C ENST00000232892.6 + 5 1077 c.951G>C c.(949-951)gtG>gtC p.V317V RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 317 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TCCTAGATGTGAGGGCAGCCC 0.433000 24 54 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16349201 16349201 + Frame_Shift_Del DEL C C - TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:16349201delC ENST00000375692.1 + 3 215 c.87delC c.(85-87)cgfs p.R30fs CLCNKA_ENST00000331433.4_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.R30fs|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 30 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCCACATCCGCCGAGCCATCC 0.662 2 4 --- --- --- --- NDUFS5 4725 broad.mit.edu 37 1 39500131 39500135 + Frame_Shift_Del DEL CACCT CACCT - rs1050978 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr1:39500131_39500135delCACCT ENST00000372969.3 + 3 371_375 c.284_288delCACCT c.(283-288)cfs p.PP95fs NDUFS5_ENST00000372967.3_Frame_Shift_Del_p.PP95fs NM_004552.2 NP_004543.1 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 95 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) TACACCCCTCCACCTCACCACATTG 0.502 18 61 --- --- --- --- ZNF876P 642280 broad.mit.edu 37 4 212236 212236 + RNA DEL A A - rs80061878 TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr4:212236delA ENST00000356347.3 + 0 172 NR_027481.1 ctaaaaatacaaaaaaaaaaa 0.493 2 4 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2954870 2954873 + Splice_Site DEL CCTT CCTT - TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr7:2954870_2954873delCCTT ENST00000396946.4 - 21 3240_3243 c.2839_splice c.e21+1 p.946_splice NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 946 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCCCATGTACCTTCCTGCTTCTC 0.637 Mis DLBCL 27 54 --- --- --- --- TAF5 6877 broad.mit.edu 37 10 105127982 105127982 + Frame_Shift_Del DEL C C - TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr10:105127982delC ENST00000369839.3 + 1 259 c.236delC c.(235-237)gcfs p.A79fs TAF5_ENST00000351396.4_Frame_Shift_Del_p.A79fs NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 79 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) gcgggggcggccccggtgccc 0.756 2 4 --- --- --- --- PDX1 3651 broad.mit.edu 37 13 28494313 28494313 + Frame_Shift_Del DEL T T - TCGA-P3-A6T6-01A-11D-A34J-08 TCGA-P3-A6T6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f48dd4fb-5ca5-4cd4-860c-7aedfa65adb9 d1623ca9-854a-4331-a006-88e54166eb6f g.chr13:28494313delT ENST00000381033.4 + 1 157 c.38delT c.(37-39)ctfs p.L13fs PDX1-AS1_ENST00000499662.2_RNA NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 13 Transactivation domain (By similarity). detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GCCACGCAGCTTTACAAGGAC 0.741 2 4 --- --- --- ---