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 TTN 7273 broad.mit.edu 37 2 179576684 179576684 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179576684G>A ENST00000589042.1 - 96 28097 c.27873C>T c.(27871-27873)ttC>ttT p.F9291F TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.F8974F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F8047F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8974 Ig-like 76. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACGGTAAGGAAAGTTGATG 0.353000 42 43 0 0 0.009718 0 0 CNGB3 54714 broad.mit.edu 37 8 87623882 87623882 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:87623882C>T ENST00000320005.5 - 14 1643 c.1596G>A c.(1594-1596)atG>atA p.M532I NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 532 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGTCATAAATCATCTGTGTAT 0.308000 13 18 0 0 0.001855 0 0 F2RL1 2150 broad.mit.edu 37 5 76129230 76129230 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:76129230C>T ENST00000296677.4 + 2 1004 c.798C>T c.(796-798)atC>atT p.I266I NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 266 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TGCTGATGATCAGAATGCTGC 0.493000 167 221 0 0 0.014410 0 0 LUZP1 7798 broad.mit.edu 37 1 23418837 23418837 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:23418837G>A ENST00000302291.4 - 4 2719 c.1918C>T c.(1918-1920)Ccg>Tcg p.P640S LUZP1_ENST00000314174.5_Missense_Mutation_p.P640S|LUZP1_ENST00000418342.1_Missense_Mutation_p.P640S|LUZP1_ENST00000374623.3_Missense_Mutation_p.P640S Q86V48 LUZP1_HUMAN leucine zipper protein 1 640 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GCTTCATGCGGACTGCTGTCT 0.458000 58 75 0 0 0.014410 0 0 MLLT4 4301 broad.mit.edu 37 6 168347581 168347581 + Splice_Site SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:168347581A>G ENST00000366806.2 + 27 3674 c.3532_splice c.e27+1 p.N1178_splice MLLT4_ENST00000400822.3_Splice_Site_p.N1177_splice|MLLT4_ENST00000392112.1_Splice_Site_p.N1161_splice|MLLT4_ENST00000351017.4_Splice_Site_p.N1185_splice|MLLT4_ENST00000447894.2_Splice_Site_p.N1178_splice|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Splice_Site_p.N1178_splice|MLLT4_ENST00000392108.3_Splice_Site_p.N1178_splice P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1178 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CAACGTAGCAAGTAAGAGTGA 0.413000 T MLL AL 27 5 0 0 0.005443 0 0 TNC 3371 broad.mit.edu 37 9 117848907 117848907 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:117848907G>A ENST00000350763.4 - 3 1514 c.1103C>T c.(1102-1104)gCc>gTc p.A368V TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 368 EGF-like 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTCCACACCGGCAAAGCCCTC 0.602000 4 52 0 0 0.000602 0 0 CARF 79800 broad.mit.edu 37 2 203839170 203839170 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:203839170C>T ENST00000320443.8 + 12 2488 c.1445C>T c.(1444-1446)tCc>tTc p.S482F CARF_ENST00000438828.2_Missense_Mutation_p.S482F|CARF_ENST00000402905.2_Missense_Mutation_p.S482F|CARF_ENST00000414439.1_Missense_Mutation_p.S380F|CARF_ENST00000428585.1_Missense_Mutation_p.S406F|CARF_ENST00000545262.1_Missense_Mutation_p.S406F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.S394F calcium responsive transcription factor GTACAGAAATCCTTGAGAAAT 0.343000 91 121 0 0 0.014410 0 0 NPAP1 23742 broad.mit.edu 37 15 24924372 24924372 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:24924372C>T ENST00000329468.2 + 1 3832 c.3358C>T c.(3358-3360)Caa>Taa p.Q1120* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCTGCTTTTCAACAGTGCAT 0.468000 40 46 0 0 0.007835 0 0 PRSS55 203074 broad.mit.edu 37 8 10396229 10396229 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:10396229G>A ENST00000328655.3 + 5 1025 c.985G>A c.(985-987)Gag>Aag p.E329K PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 329 proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GGGAGTCCCAGAGCCAGGCAG 0.512000 58 72 0 0 0.014410 0 0 OR2A12 346525 broad.mit.edu 37 7 143792319 143792319 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:143792319G>A ENST00000408949.2 + 1 179 c.119G>A c.(118-120)gGa>gAa p.G40E NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) ACCCTGATGGGAAATGGGATT 0.493000 26 39 0 0 0.003954 0 0 TACC2 10579 broad.mit.edu 37 10 123845510 123845510 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:123845510C>T ENST00000369005.1 + 4 3835 c.3495C>T c.(3493-3495)tgC>tgT p.C1165C TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.C1165C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.C1165C|TACC2_ENST00000515603.1_Silent_p.C1165C|TACC2_ENST00000334433.3_Silent_p.C1165C NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1165 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGAGCACTGCCTTACCTCCG 0.612000 10 8 0 0 0.010729 0 0 LIFR 3977 broad.mit.edu 37 5 38510728 38510728 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:38510728C>T ENST00000263409.4 - 7 991 c.829G>A c.(829-831)Gtg>Atg p.V277M LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.V277M NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 277 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GCTGATAACACTTTTTCTTGA 0.383000 T PLAG1 salivary adenoma 21 10 0 0 0.008871 0 0 ARMC4 55130 broad.mit.edu 37 10 28151543 28151543 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:28151543C>T ENST00000305242.5 - 18 2711 c.2619G>A c.(2617-2619)ggG>ggA p.G873G ARMC4_ENST00000537576.1_Silent_p.G565G|ARMC4_ENST00000545014.1_Silent_p.G398G NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 873 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 GAACCATTTCCCCAGCATCCT 0.363000 7 6 0 0 0.001984 0 0 NPAP1 23742 broad.mit.edu 37 15 24921891 24921891 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:24921891C>T ENST00000329468.2 + 1 1351 c.877C>T c.(877-879)Ccg>Tcg p.P293S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTAGGCTTGCCGATTCCGCT 0.617000 26 23 0 0 0.007291 0 0 AGAP8 728404 broad.mit.edu 37 10 51225024 51225024 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:51225024A>G ENST00000602930.1 - 9 2459 c.1910T>C c.(1909-1911)cTt>cCt p.L637P AGAP8_ENST00000425119.2_Missense_Mutation_p.L653P NM_001276343.1 NP_001263272.1 Q5SRD3 AGAP8_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 653 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|ovary(2) 6 GTACTGCAGAAGCACGTTGAT 0.537000 37 70 0 0 0.007835 0 0 ADCY1 107 broad.mit.edu 37 7 45717849 45717849 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:45717849C>T ENST00000297323.7 + 10 1907 c.1885C>T c.(1885-1887)Cta>Tta p.L629L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 629 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TGTCTACCTTCTAATATTCCC 0.502000 38 61 0 0 0.007835 0 0 ULK1 8408 broad.mit.edu 37 12 132400481 132400481 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:132400481G>A ENST00000321867.4 + 19 2006 c.1655G>A c.(1654-1656)tGc>tAc p.C552Y NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 552 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GGGCTGGGCTGCCGCCTGCAC 0.697000 21 21 0 0 0.003954 0 0 OR13C4 138804 broad.mit.edu 37 9 107288987 107288987 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:107288987G>A ENST00000277216.3 - 1 503 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGTTCCCACAGAAAGGCCATC 0.388000 22 23 0 0 0.012319 0 0 CACNG6 59285 broad.mit.edu 37 19 54501563 54501563 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:54501563G>A ENST00000252729.2 + 2 992 c.402G>A c.(400-402)aaG>aaA p.K134K CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Silent_p.K134K NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 134 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GAACCACAAAGAAAGGTGAGA 0.498000 19 12 0 0 0.014323 0 0 KRT23 25984 broad.mit.edu 37 17 39092465 39092465 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:39092465C>T ENST00000209718.3 - 2 815 c.391G>A c.(391-393)Gag>Aag p.E131K KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 131 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) CTTACCTGCTCCTGCAGGTGT 0.512000 30 32 0 0 0.009535 0 0 TLX3 30012 broad.mit.edu 37 5 170736745 170736745 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:170736745C>T ENST00000296921.5 + 1 458 c.376C>T c.(376-378)Ccc>Tcc p.P126S NM_021025.2 NP_066305.2 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 126 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCAATTTCCCCTGGATGGA 0.706000 T BCL11B T-ALL 11 13 0 0 0.001855 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961498 50961498 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:50961498G>A ENST00000395701.3 + 19 1674 c.1580G>A c.(1579-1581)cGg>cAg p.R527Q NCAPH2_ENST00000299821.11_Missense_Mutation_p.R528Q|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R527Q Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 527 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CTGGTCTCACGGTTCCCCCAG 0.642000 10 6 0 0 0.008291 0 0 CETN1 1068 broad.mit.edu 37 18 580754 580754 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:580754G>A ENST00000327228.3 + 1 388 c.346G>A c.(346-348)Gat>Aat p.D116N NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 116 EF-hand 3. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 CTTTGATGACGATGAGACCGG 0.527000 19 25 0 0 0.006122 0 0 MGAM 8972 broad.mit.edu 37 7 141721425 141721425 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:141721425G>A ENST00000475668.2 + 6 652 c.598G>A c.(598-600)Gaa>Aaa p.E200K MGAM_ENST00000549489.2_Missense_Mutation_p.E200K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 200 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGTGCCCCACGAACACGTGCA 0.428000 20 19 0 0 0.010504 0 0 PRSS12 8492 broad.mit.edu 37 4 119259455 119259455 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:119259455G>A ENST00000296498.3 - 2 799 c.517C>T c.(517-519)Cgt>Tgt p.R173C NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 173 SRCR 1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TTGCCGCCACGAAGTCGTACT 0.413000 10 13 0 0 0.006214 0 0 SDS 10993 broad.mit.edu 37 12 113835197 113835197 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:113835197C>T ENST00000257549.4 - 6 548 c.425_splice c.e6-1 p.W142_splice NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 142 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CGTGGCCTTCCCTGGAGGGTG 0.657000 16 14 0 0 0.003163 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073652 73073652 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:73073652C>T ENST00000263674.3 + 14 5219 c.4869C>T c.(4867-4869)ctC>ctT p.L1623L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1623 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGCCGGGCCTCGGCGAGGGTG 0.701000 21 18 0 0 0.008871 0 0 KRT79 338785 broad.mit.edu 37 12 53227901 53227901 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:53227901G>A ENST00000330553.5 - 1 178 c.144C>T c.(142-144)gcC>gcT p.A48A NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 48 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCCACAGTGGGCCCCGCCAC 0.652000 10 33 0 0 0.006214 0 0 MYLK2 85366 broad.mit.edu 37 20 30414646 30414646 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:30414646C>T ENST00000375994.2 + 7 1402 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y MYLK2_ENST00000375985.4_Missense_Mutation_p.H377Y|MYLK2_ENST00000468730.1_3'UTR Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 377 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGAGGACTACCATCTGACCGA 0.582000 19 20 0 0 0.008871 0 0 NRXN1 9378 broad.mit.edu 37 2 50733643 50733643 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:50733643C>T ENST00000404971.1 - 14 3946 c.2607G>A c.(2605-2607)caG>caA p.Q869Q NRXN1_ENST00000405472.3_Silent_p.Q821Q|NRXN1_ENST00000406859.3_Silent_p.Q829Q|NRXN1_ENST00000401669.2_Silent_p.Q829Q|NRXN1_ENST00000406316.2_Silent_p.Q829Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.Q821Q NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 829 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTGTCATGGCCTGTTGGTCAT 0.453000 9 6 0 0 0.004482 0 0 SCN5A 6331 broad.mit.edu 37 3 38597168 38597168 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:38597168C>T ENST00000413689.1 - 26 4714 c.4521G>A c.(4519-4521)caG>caA p.Q1507Q SCN5A_ENST00000455624.2_Silent_p.Q1506Q|SCN5A_ENST00000451551.2_Silent_p.Q1453Q|SCN5A_ENST00000450102.2_Silent_p.Q1453Q|SCN5A_ENST00000449557.2_Silent_p.Q1453Q|SCN5A_ENST00000443581.1_Silent_p.Q1506Q|SCN5A_ENST00000425664.1_Silent_p.Q1489Q|SCN5A_ENST00000423572.2_Silent_p.Q1506Q|SCN5A_ENST00000414099.2_Silent_p.Q1489Q|SCN5A_ENST00000333535.4_Silent_p.Q1507Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1507 Missing (in LQT3). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGATGGGCTTCTGGGGCTTCT 0.582000 31 50 0 0 0.008361 0 0 TF 7018 broad.mit.edu 37 3 133478078 133478078 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:133478078G>A ENST00000402696.3 + 9 1593 c.1108G>A c.(1108-1110)Gag>Aag p.E370K TF_ENST00000264998.3_Missense_Mutation_p.E243K NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 370 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GAGCCACCACGAGAGGCTCAA 0.498000 35 41 0 0 0.004289 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11868860 11868860 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:11868860G>A ENST00000396516.2 - 7 792 c.595C>T c.(595-597)Cat>Tat p.H199Y ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H199Y Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 199 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TCCACAGAATGGTTCAAAGCC 0.373000 20 25 0 0 0.014323 0 0 EPSTI1 94240 broad.mit.edu 37 13 43462570 43462570 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:43462570A>T ENST00000313640.7 - 13 1113 c.1049T>A c.(1048-1050)cTt>cAt p.L350H EPSTI1_ENST00000313624.7_3'UTR NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 0 endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) ATTAAGAAAAAGCATCTCATG 0.403000 50 23 0 0 0.014410 0 0 VPS13C 54832 broad.mit.edu 37 15 62211588 62211588 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:62211588T>C ENST00000261517.5 - 58 7611 c.7538A>G c.(7537-7539)tAt>tGt p.Y2513C VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2470C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2513C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2470C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2513 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CCGTACATTATACAATCGCCG 0.413000 36 45 0 0 0.008740 0 0 TRBV28 28559 broad.mit.edu 37 7 142428803 142428803 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:142428803C>T ENST00000390400.2 + 0 183 GTTCTGGTATCGACAAGACCC 0.423000 10 12 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34286079 34286079 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:34286079G>A ENST00000373381.4 - 8 1366 c.1190C>T c.(1189-1191)tCg>tTg p.S397L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 357 Sushi 2. 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) CCTGAAATCCGAGCCTAGTCT 0.488000 57 62 0 0 0.014410 0 0 NWD1 284434 broad.mit.edu 37 19 16875863 16875863 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:16875863C>T ENST00000524140.2 + 10 2688 c.2270C>T c.(2269-2271)tCc>tTc p.S757F NWD1_ENST00000552788.1_Missense_Mutation_p.S757F|NWD1_ENST00000549814.1_Missense_Mutation_p.S757F|NWD1_ENST00000523826.1_Missense_Mutation_p.S551F|NWD1_ENST00000339803.6_Missense_Mutation_p.S622F|NWD1_ENST00000379808.3_Missense_Mutation_p.S757F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 757 ATP binding p.S622F(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGCTGGATTTCCTGCCGGGGC 0.597000 16 21 0 0 0.004007 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820022 50820022 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:50820022C>T ENST00000374115.3 + 1 1676 c.1236C>T c.(1234-1236)cgC>cgT p.R412R CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 412 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TGGACGTGCGCCATGTCTCAG 0.622000 8 10 0 0 0.003080 0 0 AP1G2 8906 broad.mit.edu 37 14 24033266 24033266 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:24033266G>A ENST00000308724.5 - 10 1835 c.1080C>T c.(1078-1080)gcC>gcT p.A360A AP1G2_ENST00000397120.3_Silent_p.A360A|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 360 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GGCTGAGGGAGGCATCAGTTT 0.592000 15 8 0 0 0.002450 0 0 HPSE2 60495 broad.mit.edu 37 10 100401655 100401655 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:100401655C>T ENST00000370552.3 - 7 1106 c.1047G>A c.(1045-1047)ctG>ctA p.L349L HPSE2_ENST00000404542.1_Silent_p.L237L|HPSE2_ENST00000370546.1_Silent_p.L349L|HPSE2_ENST00000370549.1_Silent_p.L291L NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 349 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GGCGAGTTTTCAGGAAGTCCA 0.398000 64 82 0 0 0.014410 0 0 MAEL 84944 broad.mit.edu 37 1 166963267 166963267 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:166963267G>A ENST00000367872.4 + 5 728 c.484G>A c.(484-486)Gaa>Aaa p.E162K MAEL_ENST00000367870.2_Missense_Mutation_p.E131K|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 162 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TATTATAGGTGAAATTCCACG 0.348000 6 18 0 0 0.001168 0 0 MYH4 4622 broad.mit.edu 37 17 10363552 10363552 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:10363552C>T ENST00000255381.2 - 13 1344 c.1234G>A c.(1234-1236)Gag>Aag p.E412K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 412 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTACGAACTCATTGCCGACC 0.448000 39 29 0 0 0.007835 0 0 GALNT8 26290 broad.mit.edu 37 12 4853771 4853771 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:4853771G>A ENST00000252318.2 + 4 1102 c.765G>A c.(763-765)agG>agA p.R255R NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 255 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 ATCCTGAAAGGAAAGGTCTTG 0.468000 12 13 0 0 0.013537 0 0 PSMD5 5711 broad.mit.edu 37 9 123605157 123605157 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:123605157C>T ENST00000210313.3 - 1 105 c.31G>A c.(31-33)Gag>Aag p.E11K PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.E11K NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 CTCGCTACCTCTCTCAGCAGC 0.692000 5 8 0 0 0.001168 0 0 VCPIP1 80124 broad.mit.edu 37 8 67547093 67547093 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:67547093G>A ENST00000310421.4 - 3 3570 c.3312C>T c.(3310-3312)gcC>gcT p.A1104A NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 1104 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTTTTCGCTGGGCCTCAACCA 0.448000 29 37 0 0 0.010818 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 33 0 0 0.004672 0 0 OBSCN 84033 broad.mit.edu 37 1 228505874 228505874 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:228505874G>A ENST00000570156.2 + 64 17076 c.17002_splice c.e64+1 p.V5668_splice OBSCN_ENST00000422127.1_Splice_Site_p.V4711_splice|OBSCN_ENST00000366709.4_Splice_Site_p.V1830_splice|OBSCN_ENST00000284548.11_Splice_Site_p.V4711_splice|OBSCN_ENST00000366707.4_Splice_Site_p.V2345_splice NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4711 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACCTTCCAGGGTGCGTTGTC 0.637000 11 31 0 0 0.010729 0 0 WNT16 51384 broad.mit.edu 37 7 120979033 120979033 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:120979033G>A ENST00000222462.2 + 4 1022 c.732G>A c.(730-732)aaG>aaA p.K244K WNT16_ENST00000361301.2_Silent_p.K234K NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 244 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) CTTTTGAAAAGATTGGCCATT 0.428000 12 35 0 0 0.001855 0 0 KIAA0319 9856 broad.mit.edu 37 6 24551733 24551733 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:24551733C>T ENST00000535378.1 - 21 3584 c.2942G>A c.(2941-2943)aGg>aAg p.R981K KIAA0319_ENST00000543707.1_Missense_Mutation_p.R990K|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R945K|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R990K NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 990 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGTTTTTTTCCTGATTTTAGT 0.398000 11 37 0 0 0.013537 0 0 RAB23 51715 broad.mit.edu 37 6 57072428 57072428 + Missense_Mutation SNP C C T rs145669565 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:57072428C>T ENST00000317483.3 - 3 858 c.239G>A c.(238-240)cGa>cAa p.R80Q RAB23_ENST00000468148.1_Missense_Mutation_p.R80Q NM_016277.3 NP_057361.3 Q9ULC3 RAB23_HUMAN RAB23, member RAS oncogene family 80 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.R80Q(1) kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 8 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGTTTTACCTCGATAGTAGGC 0.333000 38 63 0 0 0.010771 0 0 NUP205 23165 broad.mit.edu 37 7 135261829 135261829 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:135261829A>G ENST00000285968.6 + 5 627 c.601A>G c.(601-603)Aaa>Gaa p.K201E NUP205_ENST00000440390.2_Silent_p.R4R NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 201 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TGAGTTTGAGAAACTACAGCG 0.418000 18 11 0 0 0.010504 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162016 90162016 + RNA SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:90162016A>C ENST00000567960.1 + 0 752 TUBB8P7_ENST00000564451.1_RNA TGCTGACCTGAGGAAGCTGGC 0.622000 3 15 0 0 0.009096 0 0 CPZ 8532 broad.mit.edu 37 4 8621229 8621229 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:8621229A>G ENST00000429646.2 + 9 3461 c.668A>G c.(667-669)gAg>gGg p.E223G CPZ_ENST00000382480.2_Missense_Mutation_p.E478G|CPZ_ENST00000360986.4_Missense_Mutation_p.E615G|CPZ_ENST00000315782.6_Missense_Mutation_p.E604G Q66K79 CBPZ_HUMAN carboxypeptidase Z 615 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GAGGCCACGGAGCCCGACCCG 0.677000 25 0 0 0 0.006320 0 0 FBLN2 2199 broad.mit.edu 37 3 13679062 13679062 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:13679062G>A ENST00000404922.3 + 18 3458 c.3338_splice c.e18-1 p.T1113_splice FBLN2_ENST00000295760.7_Splice_Site_p.T1066_splice|FBLN2_ENST00000535798.1_Splice_Site_p.T1092_splice|FBLN2_ENST00000492059.1_Splice_Site_p.T1113_splice NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 1066 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.T532T(1)|p.T1113T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTCCCTGCAGGAAGTGCGAGC 0.657000 6 10 0 0 0.001984 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391864 139391864 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:139391864G>A ENST00000277541.6 - 34 6402 c.6327C>T c.(6325-6327)atC>atT p.I2109I NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2109 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGCCTCACGATGTCGTGAT 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 32 0 0 0.014323 0 0 CHKA 1119 broad.mit.edu 37 11 67821482 67821482 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:67821482G>A ENST00000265689.4 - 12 1373 c.1347C>T c.(1345-1347)ttC>ttT p.F449F CHKA_ENST00000533728.1_5'UTR|CHKA_ENST00000356135.5_Silent_p.F431F NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 449 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TCTTCTGGTGGAAATAGGCAT 0.587000 7 6 0 0 0.003080 0 0 ZBTB4 57659 broad.mit.edu 37 17 7369840 7369840 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:7369840G>A ENST00000311403.4 - 3 620 c.281C>T c.(280-282)tCt>tTt p.S94F ZBTB4_ENST00000380599.4_Missense_Mutation_p.S94F NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 94 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) agaagaggaagaagacgagga 0.617000 10 10 0 0 0.006214 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44028838 44028838 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:44028838C>T ENST00000260605.8 + 10 892 c.792C>T c.(790-792)ttC>ttT p.F264F DYNC2LI1_ENST00000443170.3_Silent_p.F138F|DYNC2LI1_ENST00000605786.1_Silent_p.F265F NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 264 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGATTCTTTCGGTCAAATAG 0.338000 123 161 0 0 0.014410 0 0 ZNF592 9640 broad.mit.edu 37 15 85326082 85326082 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:85326082C>T ENST00000299927.3 + 1 198 c.176C>T c.(175-177)tCa>tTa p.S59L ZNF592_ENST00000560079.2_Missense_Mutation_p.S59L Q92610 ZN592_HUMAN zinc finger protein 592 59 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTCAGGATCAGCCCCCGAT 0.542000 24 35 0 0 0.002780 0 0 SAMD9 54809 broad.mit.edu 37 7 92734852 92734852 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:92734852G>A ENST00000379958.2 - 3 828 c.559C>T c.(559-561)Cca>Tca p.P187S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 187 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGATTGCCTGGTCCTGTTTCA 0.388000 34 49 0 0 0.012213 0 0 TAOK2 9344 broad.mit.edu 37 16 29998375 29998375 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:29998375C>T ENST00000308893.4 + 16 3825 c.2782C>T c.(2782-2784)Cct>Tct p.P928S TAOK2_ENST00000543033.1_Missense_Mutation_p.P815S|TAOK2_ENST00000416441.2_Missense_Mutation_p.P755S|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 928 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CGACATCCCTCCTGAACCCCC 0.647000 53 71 0 0 0.014410 0 0 ABCB11 8647 broad.mit.edu 37 2 169833117 169833117 + Silent SNP G G C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:169833117G>C ENST00000263817.6 - 12 1402 c.1278C>G c.(1276-1278)acC>acG p.T426T NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 426 ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GATAATGGAAGGTCACATTAT 0.398000 17 18 0 0 0.004990 0 0 HEPH 9843 broad.mit.edu 37 X 65476088 65476088 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:65476088G>A ENST00000519389.1 + 17 3153 c.2974G>A c.(2974-2976)Gaa>Aaa p.E992K HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000419594.1_Missense_Mutation_p.E749K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K Q9BQS7 HEPH_HUMAN hephaestin 938 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTATTTGGAGGAAAATGTGGC 0.433000 13 0 0 0 0.001855 0 0 OR2K2 26248 broad.mit.edu 37 9 114090650 114090650 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:114090650C>T ENST00000374428.1 - 1 150 c.151G>A c.(151-153)Ggg>Agg p.G51R OR2K2_ENST00000302681.1_Missense_Mutation_p.G22R Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 ACTTCTAACCCTGGGTACTGG 0.403000 15 24 0 0 0.007413 0 0 KRT5 3852 broad.mit.edu 37 12 52913771 52913771 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:52913771C>T ENST00000252242.4 - 1 700 c.310G>A c.(310-312)Gga>Aga p.G104R NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 104 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) aaaccaaatccactaccggca 0.617000 18 18 0 0 0.004990 0 0 FBLN5 10516 broad.mit.edu 37 14 92403366 92403366 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:92403366G>A ENST00000267620.10 - 5 596 c.427C>T c.(427-429)Cca>Tca p.P143S FBLN5_ENST00000556154.1_Missense_Mutation_p.P107S|FBLN5_ENST00000342058.4_Missense_Mutation_p.P102S Q9UBX5 FBLN5_HUMAN fibulin 5 102 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) GGATAGTTTGGAGCTGAGAGT 0.562000 30 26 0 0 0.013726 0 0 SAMD4A 23034 broad.mit.edu 37 14 55251155 55251155 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:55251155C>T ENST00000555192.1 + 7 1031 c.915C>T c.(913-915)tcC>tcT p.S305S SAMD4A_ENST00000554335.1_Intron|SAMD4A_ENST00000357634.3_Intron|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Intron NM_001161577.1 NP_001155049.1 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 681 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TCCCCAAGTCCTCCCAGGGAG 0.547000 8 8 0 0 0.003080 0 0 SNX33 257364 broad.mit.edu 37 15 75941913 75941913 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:75941913C>T ENST00000308527.5 + 1 1667 c.470C>T c.(469-471)gCc>gTc p.A157V NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 157 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CAGCACATGGCCTTCCGGCCC 0.652000 9 20 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 8982215 8982215 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:8982215G>A ENST00000397910.4 - 70 42263 c.42060C>T c.(42058-42060)acC>acT p.T14020T MUC16_ENST00000380951.5_Silent_p.T661T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14045 SEA 13. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGCCATGGGTCTGCTGGC 0.632000 22 21 0 0 0.003330 0 0 SLC38A11 151258 broad.mit.edu 37 2 165765251 165765251 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:165765251G>A ENST00000303735.4 - 9 1090 c.760C>T c.(760-762)Ctt>Ttt p.L254F SLC38A11_ENST00000409058.1_Missense_Mutation_p.L307F|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L276F|SLC38A11_ENST00000409149.3_Missense_Mutation_p.L276F NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 276 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 ACCGATGAAAGATTCCCACCA 0.398000 16 14 0 0 0.004007 0 0 ANKRD26 22852 broad.mit.edu 37 10 27356094 27356094 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:27356094T>C ENST00000376087.4 - 10 1364 c.1199A>G c.(1198-1200)aAt>aGt p.N400S ANKRD26_ENST00000436985.2_Missense_Mutation_p.N449S NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 400 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ACCACTTCTATTATTTTTGTG 0.348000 20 21 0 0 0.010504 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431863 140431863 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140431863G>A ENST00000306549.3 + 1 885 c.808G>A c.(808-810)Gac>Aac p.D270N NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 270 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGGACCTAGACGAGGGCAC 0.522000 8 15 0 0 0.003080 0 0 SLC5A12 159963 broad.mit.edu 37 11 26714112 26714112 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:26714112C>T ENST00000396005.3 - 9 1386 c.1077G>A c.(1075-1077)gtG>gtA p.V359V SLC5A12_ENST00000280467.6_Silent_p.V359V NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 359 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CCTCAAAGGTCACTGTTGCCA 0.478000 14 27 0 0 0.004007 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565046 58565046 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:58565046G>A ENST00000282326.1 + 6 1101 c.854G>A c.(853-855)gGg>gAg p.G285E NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 285 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTGCCGCGTGGGCCCCGAGGT 0.632000 25 23 0 0 0.005443 0 0 GK2 2712 broad.mit.edu 37 4 80327758 80327758 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:80327758C>T ENST00000358842.3 - 1 1614 c.1597G>A c.(1597-1599)Gga>Aga p.G533R NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 533 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ATAAAAAATCCCAAAGGCAGA 0.418000 20 25 0 0 0.010504 0 0 LINGO2 158038 broad.mit.edu 37 9 27949363 27949363 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:27949363C>T ENST00000379992.2 - 6 1756 c.1307G>A c.(1306-1308)gGa>gAa p.G436E LINGO2_ENST00000308675.3_Missense_Mutation_p.G436E NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 436 Ig-like C2-type. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CTGCGGGTCTCCATCTGCACT 0.502000 22 16 0 0 0.014323 0 0 CDCP2 200008 broad.mit.edu 37 1 54605583 54605583 + Silent SNP C C T rs149351262 by1000genomes TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:54605583C>T ENST00000371330.1 - 4 1807 c.960G>A c.(958-960)gcG>gcA p.A320A NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 320 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CATCGAAGGCCGCCAGATGGT 0.632000 13 10 0 0 0.013537 0 0 OR5M11 219487 broad.mit.edu 37 11 56310253 56310253 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:56310253G>A ENST00000528616.2 - 1 504 c.481C>T c.(481-483)Ctg>Ttg p.L161L NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CGGAAGGTCAGGATGGCCTGG 0.498000 9 15 0 0 0.004482 0 0 KLHL13 90293 broad.mit.edu 37 X 117032927 117032927 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:117032927G>A ENST00000371876.1 - 6 4180 c.1759C>T c.(1759-1761)Cca>Tca p.P587S KLHL13_ENST00000262820.3_Missense_Mutation_p.P638S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P622S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P641S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P587S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P596S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P587S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P622S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P587S Q9P2N7 KLH13_HUMAN kelch-like family member 13 638 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCTTCTGGTGGAAAAACTGTG 0.423000 23 2 0 0 0.014323 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720249 140720249 + Missense_Mutation SNP G G A rs147953582 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140720249G>A ENST00000394576.2 + 1 1711 c.1711G>A c.(1711-1713)Ggt>Agt p.G571S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCACAGACGGTTCCACTGG 0.637000 43 53 0 0 0.013114 0 0 DSC3 1825 broad.mit.edu 37 18 28581646 28581646 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:28581646C>T ENST00000434452.1 - 14 2327 c.2173G>A c.(2173-2175)Gaa>Aaa p.E725K DSC3_ENST00000360428.4_Missense_Mutation_p.E725K NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 725 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCTAAATCTTCAGGAAAACGT 0.299000 24 31 0 0 0.007291 0 0 FUT9 10690 broad.mit.edu 37 6 96651899 96651899 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:96651899G>A ENST00000302103.5 + 3 1194 c.868G>A c.(868-870)Gaa>Aaa p.E290K NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 290 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CATTCATGTGGAAGATTATAA 0.388000 12 0 0 0 0.010729 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957351 50957351 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:50957351G>A ENST00000357701.5 + 17 1875 c.1824G>A c.(1822-1824)gcG>gcA p.A608A NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 608 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle p.A608A(1) breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TTGAGAGTGCGCAGCGGGAAG 0.602000 9 3 0 0 0.008291 0 0 SLC9B2 133308 broad.mit.edu 37 4 103971423 103971423 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:103971423G>A ENST00000394785.3 - 5 1190 c.559C>T c.(559-561)Cgt>Tgt p.R187C SLC9B2_ENST00000339611.4_Missense_Mutation_p.R187C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.R130C|SLC9B2_ENST00000503230.1_Missense_Mutation_p.R130C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.R187C NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 187 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity AGGCCAGCACGAACCAGAATG 0.388000 14 14 0 0 0.004007 0 0 OTOP3 347741 broad.mit.edu 37 17 72937725 72937725 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:72937725C>T ENST00000328801.4 + 2 311 c.311C>T c.(310-312)gCc>gTc p.A104V NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 104 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CTGGGTGGCGCCTTCATCTGC 0.612000 14 27 0 0 0.004007 0 0 OR8D1 283159 broad.mit.edu 37 11 124180386 124180386 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:124180386G>A ENST00000357821.2 - 1 347 c.277C>T c.(277-279)Ctt>Ttt p.L93F NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TCAGAGTAAAGGATTGTATTC 0.453000 10 8 0 0 0.010729 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688136 68688136 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:68688136A>C ENST00000361320.4 + 2 2040 c.1462A>C c.(1462-1464)Acg>Ccg p.T488P CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 488 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 ACCCACCAACACGGAGACCAG 0.493000 12 21 0 0 0.013537 0 0 MYOM3 127294 broad.mit.edu 37 1 24389691 24389691 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:24389691G>A ENST00000330966.7 - 32 3866 c.3704C>T c.(3703-3705)aCc>aTc p.T1235I MYOM3_ENST00000374434.3_Missense_Mutation_p.T1232I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.T125I Q5VTT5 MYOM3_HUMAN myomesin 3 1232 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCCTTCCTCGGTCCCCTGGAT 0.542000 22 28 0 0 0.003954 0 0 USP48 84196 broad.mit.edu 37 1 22078091 22078091 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:22078091C>T ENST00000308271.9 - 6 1331 c.683G>A c.(682-684)aGa>aAa p.R228K USP48_ENST00000400301.1_Missense_Mutation_p.R228K|USP48_ENST00000421625.2_Missense_Mutation_p.R228K|USP48_ENST00000529637.1_Missense_Mutation_p.R228K NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 228 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CTTAGACTCTCTGCCACACTG 0.338000 20 24 0 0 0.012319 0 0 NLRP8 126205 broad.mit.edu 37 19 56485147 56485147 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:56485147G>A ENST00000291971.3 + 7 2735 c.2664G>A c.(2662-2664)tgG>tgA p.W888* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.W869* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 888 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGCATATTTGGAATGCCCTGC 0.512000 41 49 0 0 0.010771 0 0 TTN 7273 broad.mit.edu 37 2 179473133 179473133 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179473133C>T ENST00000589042.1 - 275 52701 c.52477G>A c.(52477-52479)Gaa>Aaa p.E17493K TTN_ENST00000591111.1_Missense_Mutation_p.E15852K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8428K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8620K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8553K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14925K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15852 Ig-like 103. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTTGGTTCATTCCATTTC 0.393000 9 7 0 0 0.004482 0 0 EIF4EBP1 1978 broad.mit.edu 37 8 37914620 37914620 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:37914620G>A ENST00000338825.4 + 2 400 c.167G>A c.(166-168)cGg>cAg p.R56Q EIF4EBP1_ENST00000520657.1_3'UTR NM_004095.3 NP_004086.1 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E binding protein 1 56 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol endometrium(1)|lung(1)|ovary(1)|urinary_tract(1) 4 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) ATCTATGACCGGAAATTCCTG 0.552000 15 25 0 0 0.004990 0 0 BDH1 622 broad.mit.edu 37 3 197260398 197260398 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:197260398G>A ENST00000392379.1 - 4 519 c.118C>T c.(118-120)Ccg>Tcg p.P40S BDH1_ENST00000392378.2_Missense_Mutation_p.P40S|BDH1_ENST00000358186.2_Missense_Mutation_p.P40S|BDH1_ENST00000441275.1_5'UTR NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 40 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) CGGCCAATCGGGATAAAGGAA 0.572000 16 20 0 0 0.007413 0 0 MUC17 140453 broad.mit.edu 37 7 100678460 100678460 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:100678460G>A ENST00000306151.4 + 3 3827 c.3763G>A c.(3763-3765)Gaa>Aaa p.E1255K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1255 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCTGCTGAAACCAGTTC 0.502000 104 143 0 0 0.014410 0 0 CEP192 55125 broad.mit.edu 37 18 13096208 13096208 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:13096208C>T ENST00000506447.1 + 36 6539 c.6459C>T c.(6457-6459)ttC>ttT p.F2153F CEP192_ENST00000430049.2_Silent_p.F1678F|CEP192_ENST00000325971.8_Silent_p.F1557F|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1748 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTGGACGTTTCCAGATTGTGA 0.418000 20 24 0 0 0.008871 0 0 CSMD2 114784 broad.mit.edu 37 1 34090146 34090146 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:34090146G>A ENST00000373381.4 - 35 5774 c.5598C>T c.(5596-5598)atC>atT p.I1866I CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1826 CUB 11. 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) CGGGGACCACGATCTTCCACA 0.647000 25 47 0 0 0.003330 0 0 HABP2 3026 broad.mit.edu 37 10 115343962 115343962 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:115343962G>A ENST00000351270.3 + 11 1389 c.1293G>A c.(1291-1293)gtG>gtA p.V431V HABP2_ENST00000542051.1_Silent_p.V405V NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 431 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCAAATACGTGAAGACTGTGT 0.507000 22 28 0 0 0.012319 0 0 COG7 91949 broad.mit.edu 37 16 23417548 23417548 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:23417548G>A ENST00000307149.5 - 12 1696 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 504 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GGGGCTGCAGGAATCAGATAG 0.458000 30 28 0 0 0.010818 0 0 TOP3A 7156 broad.mit.edu 37 17 18205590 18205590 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:18205590G>A ENST00000321105.5 - 7 1016 c.802C>T c.(802-804)Cac>Tac p.H268Y TOP3A_ENST00000542570.1_Missense_Mutation_p.H173Y NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 268 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 TTAATTCTGTGGAAGATTTCT 0.512000 16 22 0 0 0.008871 0 0 DUSP27 92235 broad.mit.edu 37 1 167095395 167095395 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:167095395G>A ENST00000361200.2 + 6 1193 c.1027G>A c.(1027-1029)Gac>Aac p.D343N DUSP27_ENST00000443333.1_Missense_Mutation_p.D343N|DUSP27_ENST00000271385.5_Missense_Mutation_p.D343N|DUSP27_ENST00000485151.1_3'UTR Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 343 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CACCCTCATAGACGAGGAGGA 0.657000 5 17 0 0 0.001168 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118220535 118220535 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:118220535C>T ENST00000369230.3 + 6 769 c.623C>T c.(622-624)cCc>cTc p.P208L NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 208 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) AGGCTAGACCCCTCGGATGCC 0.443000 25 22 0 0 0.003330 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606511 31606511 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:31606511G>A ENST00000170150.3 + 9 933 c.738G>A c.(736-738)agG>agA p.R246R NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 246 extracellular region lipid binding TGTTGCCAAGGCATGTGGGTA 0.627000 64 69 0 0 0.014410 0 0 ADARB1 104 broad.mit.edu 37 21 46595714 46595714 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr21:46595714C>T ENST00000539173.1 + 4 533 c.98C>T c.(97-99)cCt>cTt p.P33L ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.P33L|ADARB1_ENST00000360697.3_Missense_Mutation_p.P33L|ADARB1_ENST00000348831.4_Missense_Mutation_p.P33L NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 33 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GGCAGCACACCTGGGCCTGGC 0.607000 50 78 0 0 0.014410 0 0 MSH3 4437 broad.mit.edu 37 5 80074565 80074565 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:80074565C>T ENST00000265081.6 + 17 2425 c.2345C>T c.(2344-2346)tCt>tTt p.S782F NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 782 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CGCTTTCACTCTCCTTTTATT 0.403000 Mismatch excision repair (MMR) 23 33 0 0 0.003954 0 0 SALL1 6299 broad.mit.edu 37 16 51172844 51172844 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:51172844G>A ENST00000440970.1 - 2 3429 c.2998C>T c.(2998-3000)Cct>Tct p.P1000S SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P1097S|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1097 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTGTCCTGAGGAGAAACATGC 0.572000 22 6 0 0 0.004656 0 0 ABL1 25 broad.mit.edu 37 9 133755498 133755498 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:133755498C>T ENST00000318560.5 + 9 1848 c.1467C>T c.(1465-1467)atC>atT p.I489I NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 489 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TTGCTGAAATCCACCAAGCCT 0.537000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 37 51 0 0 0.010771 0 0 VPS13B 157680 broad.mit.edu 37 8 100861088 100861088 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:100861088G>A ENST00000358544.2 + 55 10213 c.10102G>A c.(10102-10104)Gga>Aga p.G3368R VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343R|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3368 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GGCCCCAGAAGGAAAAGCAGG 0.398000 30 22 0 0 0.006320 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42398370 42398370 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:42398370C>T ENST00000599846.1 + 9 860 c.735C>T c.(733-735)ttC>ttT p.F245F ARHGEF1_ENST00000347545.4_Silent_p.F212F|ARHGEF1_ENST00000337665.4_Silent_p.F260F|ARHGEF1_ENST00000354532.3_Silent_p.F245F|ARHGEF1_ENST00000378152.4_Silent_p.F227F Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 245 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GGAACTTCTTCCGGAAAAAGG 0.577000 11 15 0 0 0.001855 0 0 RPH3AL 9501 broad.mit.edu 37 17 171067 171067 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:171067T>A ENST00000323434.8 - 4 814 c.217A>T c.(217-219)Atc>Ttc p.I73F RPH3AL_ENST00000536489.2_Missense_Mutation_p.I73F|RPH3AL_ENST00000331302.7_Missense_Mutation_p.I73F NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 73 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) CCTCACCCGATTCTCTGCTGC 0.682000 38 33 0 0 0.010771 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420404 55420404 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:55420404G>A ENST00000242994.3 + 2 559 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 61 Asp/Glu-rich (acidic). amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 agaagaagaggaagaagaTGG 0.473000 3 8 0 0 0.009096 0 0 VPS13B 157680 broad.mit.edu 37 8 100861089 100861089 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:100861089G>A ENST00000358544.2 + 55 10214 c.10103G>A c.(10102-10104)gGa>gAa p.G3368E VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343E|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3368 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCCCCAGAAGGAAAAGCAGGA 0.398000 30 21 0 0 0.006320 0 0 RBBP8 5932 broad.mit.edu 37 18 20529644 20529644 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:20529644C>T ENST00000399722.2 + 4 567 c.216C>T c.(214-216)gtC>gtT p.V72V RBBP8_ENST00000399725.2_Silent_p.V72V|RBBP8_ENST00000360790.5_Silent_p.V72V|RBBP8_ENST00000327155.5_Silent_p.V72V NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 72 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AGCAGAAAGTCCTTCATGAAA 0.343000 Homologous recombination 31 40 0 0 0.003271 0 0 WDR24 84219 broad.mit.edu 37 16 736754 736754 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:736754C>T ENST00000293883.4 - 3 2081 c.1322G>A c.(1321-1323)gGc>gAc p.G441D WDR24_ENST00000248142.6_Missense_Mutation_p.G571D NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 571 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) CTGGTTGCGGCCAAGCTCTCG 0.662000 21 23 0 0 0.004656 0 0 TNXB 7148 broad.mit.edu 37 6 32030254 32030254 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:32030254C>T ENST00000375244.3 - 20 7049 c.6848G>A c.(6847-6849)gGa>gAa p.G2283E TNXB_ENST00000375247.2_Missense_Mutation_p.G2283E P22105 TENX_HUMAN tenascin XB 2353 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TTCATCCTTTCCTGGGGCTGC 0.582000 223 219 0 0 0.014410 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215010 140215010 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140215010C>T ENST00000525929.1 + 1 1042 c.1042C>T c.(1042-1044)Cca>Tca p.P348S PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P348S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGCTCCACAGTTGAC 0.498000 38 41 0 0 0.004878 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711128 140711128 + Missense_Mutation SNP C C T rs145926133 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140711128C>T ENST00000517417.1 + 1 877 c.877C>T c.(877-879)Cgt>Tgt p.R293C PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C NM_018912.2 NP_061735.1 p.R293C(2) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAATATTTCGTTTAGATTC 0.428000 18 16 0 0 0.007413 0 0 AOC1 26 broad.mit.edu 37 7 150554372 150554372 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:150554372G>A ENST00000493429.1 + 4 1398 c.814G>A c.(814-816)Ggg>Agg p.G272R AOC1_ENST00000360937.4_Missense_Mutation_p.G272R|AOC1_ENST00000416793.2_Missense_Mutation_p.G272R|AOC1_ENST00000467291.1_Missense_Mutation_p.G272R amine oxidase, copper containing 1 TGGGGGCAAGGGGCATGACAG 0.662000 4 7 0 0 0.009096 0 0 RAB4A 5867 broad.mit.edu 37 1 229438698 229438698 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:229438698C>T ENST00000366690.4 + 7 839 c.631C>T c.(631-633)Ccg>Tcg p.P211S RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 206 GDP binding|GTP binding|GTPase activity p.P211S(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) CGCACAGGCCCCGAACGCTCA 0.577000 24 110 0 0 0.004656 0 0 MS4A14 84689 broad.mit.edu 37 11 60183826 60183826 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:60183826C>T ENST00000300187.6 + 5 1662 c.1385C>T c.(1384-1386)tCa>tTa p.S462L MS4A14_ENST00000395005.2_Missense_Mutation_p.S445L|MS4A14_ENST00000531783.1_Missense_Mutation_p.S495L|MS4A14_ENST00000531787.1_Missense_Mutation_p.S350L NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 462 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GATATTAGATCAGAAGTTATG 0.398000 17 18 0 0 0.004990 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410418 105410418 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:105410418G>A ENST00000333244.5 - 7 11489 c.11370C>T c.(11368-11370)tcC>tcT p.S3790S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3790 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCGGCCAGGGACAGGTCCC 0.577000 76 110 0 0 0.014410 0 0 LAD1 3898 broad.mit.edu 37 1 201352246 201352246 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:201352246C>T ENST00000391967.2 - 7 1643 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K LAD1_ENST00000367313.3_Missense_Mutation_p.E462K|LAD1_ENST00000488842.1_5'UTR NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 448 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCCGCCAGTTCCTTCTCAAAG 0.592000 39 161 0 0 0.005524 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259437 24259437 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:24259437C>T ENST00000538205.1 + 13 1462 c.915C>T c.(913-915)ttC>ttT p.F305F RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.F305F|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.F384F NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 384 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GTTCAAAATTCCCAAAGGATT 0.363000 15 28 0 0 0.004007 0 0 OPRL1 4987 broad.mit.edu 37 20 62729885 62729885 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:62729885C>T ENST00000349451.3 + 6 1258 c.846C>T c.(844-846)ttC>ttT p.F282F OPRL1_ENST00000355631.4_Silent_p.F282F|OPRL1_ENST00000336866.2_Silent_p.F282F NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 282 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCCAGGTCTTCGTGCTGGCCC 0.667000 12 16 0 0 0.010729 0 0 OTOF 9381 broad.mit.edu 37 2 26688892 26688892 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:26688892G>A ENST00000272371.2 - 37 4679 c.4553C>T c.(4552-4554)gCc>gTc p.A1518V OTOF_ENST00000403946.3_Missense_Mutation_p.A1518V|OTOF_ENST00000402415.3_Missense_Mutation_p.A828V|OTOF_ENST00000338581.6_Missense_Mutation_p.A751V|OTOF_ENST00000339598.3_Missense_Mutation_p.A751V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1518 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGCCGGATGGCGATGTAGGG 0.592000 31 28 0 0 0.008361 0 0 OR8B4 283162 broad.mit.edu 37 11 124294361 124294361 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:124294361G>A ENST00000356130.3 - 1 428 c.407C>T c.(406-408)tCc>tTc p.S136F NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GACCCTTGGGGACATGGTGAC 0.507000 11 18 0 0 0.013537 0 0 F7 2155 broad.mit.edu 37 13 113773050 113773050 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:113773050G>A ENST00000375581.3 + 9 1164 c.1129G>A c.(1129-1131)Gtg>Atg p.V377M F7_ENST00000541084.1_Missense_Mutation_p.V308M|F7_ENST00000346342.3_Missense_Mutation_p.V355M NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 377 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTCACGGAAGGTGGGAGACTC 0.642000 17 14 0 0 0.007413 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024424 55024424 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:55024424G>A ENST00000324000.3 + 3 2617 c.583G>A c.(583-585)Gag>Aag p.E195K NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 195 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CGCCCCTACGGAGGCTTTCCA 0.433000 17 22 0 0 0.007413 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277621 140277621 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:140277621G>A ENST00000458420.3 + 12 2153 c.1963G>A c.(1963-1965)Gga>Aga p.G655R NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 655 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 AAGTGCCAGGGGAGTGACCCT 0.567000 HNSCC(16;0.037) 20 30 0 0 0.012319 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642869 129642869 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:129642869C>T ENST00000319119.4 + 2 1276 c.1191C>T c.(1189-1191)ctC>ctT p.L397L ZBTB34_ENST00000373452.2_Silent_p.L393L NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 ACATGCGACTCCATATGGGAA 0.493000 10 19 0 0 0.006214 0 0 FSIP2 401024 broad.mit.edu 37 2 186673610 186673610 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:186673610G>A ENST00000343098.5 + 17 19844 c.19844G>A c.(19843-19845)gGa>gAa p.G6615E FSIP2_ENST00000424728.1_Missense_Mutation_p.G6526E NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCACATGTTGGAAAAAAACCA 0.308000 16 29 0 0 0.004990 0 0 COL1A1 1277 broad.mit.edu 37 17 48266284 48266284 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:48266284G>A ENST00000225964.5 - 41 3143 c.3025C>T c.(3025-3027)Cct>Tct p.P1009S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1009 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GATTCACCAGGGGGTCCAGCC 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 31 41 0 0 0.003271 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964423 32964423 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:32964423G>A ENST00000321639.5 + 10 2455 c.2127G>A c.(2125-2127)aaG>aaA p.K709K NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 709 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCAAACGCAAGAGTGTGCTCG 0.657000 22 36 0 0 0.014323 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111816 142111816 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:142111816C>T ENST00000390378.1 - 0 43 CTCACCTTCTCCTAGGGGACA 0.627000 9 19 0 0 0.006214 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007573 32007573 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:32007573G>A ENST00000418967.2 + 6 857 c.699G>A c.(697-699)aaG>aaA p.K233K CYP21A2_ENST00000435122.2_Silent_p.K203K NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 232 R -> K (in AH3). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CCATAGAGAAGAGGGATCACA 0.617000 61 327 0 0 0.014410 0 0 LAMB3 3914 broad.mit.edu 37 1 209799103 209799103 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:209799103G>A ENST00000391911.1 - 13 2255 c.1866C>T c.(1864-1866)tcC>tcT p.S622S LAMB3_ENST00000356082.4_Silent_p.S622S|LAMB3_ENST00000367030.3_Silent_p.S622S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 622 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTAGGATCCGGGAGGCCAGGC 0.642000 69 47 0 0 0.014410 0 0 TGIF2 60436 broad.mit.edu 37 20 35219682 35219682 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:35219682C>T ENST00000373874.2 + 3 761 c.562C>T c.(562-564)Cca>Tca p.P188S TGIF2_ENST00000373872.4_Missense_Mutation_p.P188S|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 188 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) ACCCACACCCCCAGAGCAGGA 0.612000 30 37 0 0 0.009535 0 0 ZNF644 84146 broad.mit.edu 37 1 91405082 91405082 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:91405082G>A ENST00000370440.1 - 3 2046 c.1829C>T c.(1828-1830)tCa>tTa p.S610L ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S610L|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ACATGATGATGAATGCAAGTA 0.348000 31 40 0 0 0.008361 0 0 SARDH 1757 broad.mit.edu 37 9 136597651 136597651 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:136597651C>T ENST00000371872.4 - 3 661 c.404G>A c.(403-405)cGg>cAg p.R135Q SARDH_ENST00000298628.5_Missense_Mutation_p.R135Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R135Q|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000371867.1_Missense_Mutation_p.R46Q NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 135 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CTCCAGCTCCCGGCTCACCAC 0.677000 35 51 0 0 0.006999 0 0 LAPTM4B 55353 broad.mit.edu 37 8 98828297 98828297 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:98828297C>T ENST00000445593.2 + 4 1250 c.570C>T c.(568-570)gcC>gcT p.A190A LAPTM4B_ENST00000521545.2_Silent_p.A99A NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 243 transport endomembrane system|integral to membrane protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) AACGCGCAGCCTGGATCATCC 0.328000 33 45 0 0 0.012213 0 0 HELLS 3070 broad.mit.edu 37 10 96333741 96333741 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:96333741C>T ENST00000348459.5 + 8 607 c.502C>T c.(502-504)Ctc>Ttc p.L168F HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.L168F|HELLS_ENST00000371332.4_Missense_Mutation_p.L168F|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L168F NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 168 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) CTCTACTAATCTCTGTGTGGA 0.323000 24 39 0 0 0.004656 0 0 CCDC19 25790 broad.mit.edu 37 1 159863049 159863049 + Missense_Mutation SNP T T A rs144965039 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:159863049T>A ENST00000368099.4 - 2 114 c.50A>T c.(49-51)aAc>aTc p.N17I CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR NM_012337.2 NP_036469.2 Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 17 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CCTTGACCTGTTGGAAGCGGC 0.522000 146 62 0 0 0.014410 0 0 VARS 7407 broad.mit.edu 37 6 31762896 31762896 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:31762896C>T ENST00000375663.3 - 2 539 c.99G>A c.(97-99)tgG>tgA p.W33* VARS_ENST00000444930.2_Intron NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 33 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGGCTCCTCCCCATCCGGGAC 0.706000 124 168 0 0 0.014410 0 0 ADAM28 10863 broad.mit.edu 37 8 24201063 24201063 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:24201063C>T ENST00000265769.4 + 18 2066 c.1956C>T c.(1954-1956)atC>atT p.I652I RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.I399I NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 652 EGF-like. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGGATGGATCCCTCCCGACT 0.488000 11 21 0 0 0.001855 0 0 RHAG 6005 broad.mit.edu 37 6 49586937 49586937 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:49586937C>T ENST00000371175.4 - 2 322 c.296G>A c.(295-297)gGa>gAa p.G99E RHAG_ENST00000229810.7_Missense_Mutation_p.G99E NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 99 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TTGCAGGATTCCCTGTACAAT 0.458000 22 67 0 0 0.002780 0 0 SRRM1 10250 broad.mit.edu 37 1 24979045 24979045 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:24979045C>T ENST00000323848.9 + 7 1161 c.846C>T c.(844-846)tcC>tcT p.S282S SRRM1_ENST00000537199.1_Silent_p.S151S|SRRM1_ENST00000447431.2_Silent_p.S282S|SRRM1_ENST00000374389.4_Silent_p.S282S|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 282 Arg-rich.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GGTCACGCTCCAAATCAAGAT 0.498000 14 20 0 0 0.001855 0 0 ZNF836 162962 broad.mit.edu 37 19 52659923 52659923 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:52659923G>A ENST00000322146.8 - 5 1534 c.1013C>T c.(1012-1014)aCc>aTc p.T338I CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.T338I NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTGTTTGAAGGTTTTCCCACA 0.388000 6 9 0 0 0.001168 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219003 42219003 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:42219003G>A ENST00000221992.6 + 3 652 c.538G>A c.(538-540)Gta>Ata p.V180I CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.V180I|CEACAM5_ENST00000398599.4_Missense_Mutation_p.V180I NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 180 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCTGTGGTGGGTAAACAATCA 0.542000 36 69 0 0 0.014410 0 0 GRID2 2895 broad.mit.edu 37 4 94411873 94411873 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:94411873T>C ENST00000282020.4 + 12 2200 c.1942T>C c.(1942-1944)Tac>Cac p.Y648H GRID2_ENST00000510992.1_Missense_Mutation_p.Y553H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 648 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TATCTCATCTTACACGGCAAA 0.438000 40 29 0 0 0.006999 0 0 LRRC10 376132 broad.mit.edu 37 12 70003892 70003892 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:70003892C>T ENST00000361484.3 - 1 1050 c.727G>A c.(727-729)Gag>Aag p.E243K NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 243 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCTGGCGTCTCCTCTGCCCAT 0.582000 15 25 0 0 0.003163 0 0 OR5B17 219965 broad.mit.edu 37 11 58125899 58125899 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:58125899G>A ENST00000357377.3 - 1 643 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACAGATAGGAAATCAAGGT 0.373000 11 13 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100678247 100678247 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:100678247C>T ENST00000306151.4 + 3 3614 c.3550C>T c.(3550-3552)Cct>Tct p.P1184S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1184 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCAACAACTCCTGTGGACTC 0.527000 74 179 0 0 0.014410 0 0 DEFB112 245915 broad.mit.edu 37 6 50011342 50011342 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:50011342G>A ENST00000322246.4 - 2 287 c.288C>T c.(286-288)atC>atT p.I96I NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 96 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) AGTCCTTTGGGATCCAATTAT 0.418000 36 26 0 0 0.004878 0 0 NPTX2 4885 broad.mit.edu 37 7 98254433 98254433 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:98254433G>A ENST00000265634.3 + 3 1008 c.843G>A c.(841-843)ctG>ctA p.L281L NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 281 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGATCGTGCTGATCGAGTGGG 0.642000 30 28 0 0 0.009535 0 0 SPOCK3 50859 broad.mit.edu 37 4 167663193 167663193 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:167663193C>T ENST00000357154.3 - 10 1095 c.958G>A c.(958-960)Gag>Aag p.E320K SPOCK3_ENST00000510741.1_Missense_Mutation_p.E277K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E320K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E320K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E188K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E317K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E317K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E269K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E224K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E200K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E317K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E320K NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 320 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TTGCTGAGCTCAGTCTGGCAA 0.378000 25 33 0 0 0.003330 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702777 60702777 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:60702777G>A ENST00000005286.4 + 10 2046 c.1893G>A c.(1891-1893)acG>acA p.T631T TMEM132A_ENST00000453848.2_Silent_p.T630T NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 630 Binds to HSPA5/GRP78 (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGGCTGTGACGGACGACAAGG 0.647000 8 10 0 0 0.006214 0 0 PDE1A 5136 broad.mit.edu 37 2 183104852 183104852 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:183104852C>T ENST00000435564.1 - 3 583 c.383G>A c.(382-384)gGa>gAa p.G128E PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94E|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128E|PDE1A_ENST00000331935.6_Missense_Mutation_p.G128E|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128E|PDE1A_ENST00000410103.1_Missense_Mutation_p.G128E|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112E|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24E|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112E NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 128 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CACAAAAATTCCAGCTTGAAC 0.388000 24 49 0 0 0.003954 0 0 PTX4 390667 broad.mit.edu 37 16 1536065 1536065 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:1536065C>T ENST00000447419.2 - 3 1337 c.1312G>A c.(1312-1314)Gaa>Aaa p.E438K PTX4_ENST00000293922.1_Missense_Mutation_p.E433K|PTX4_ENST00000440447.2_3'UTR Q96A99 PTX4_HUMAN pentraxin 4, long 438 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TTTGCAACTTCCCCGGGAACC 0.622000 16 26 0 0 0.004007 0 0 ITGA10 8515 broad.mit.edu 37 1 145533060 145533060 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:145533060G>A ENST00000369304.3 + 11 1330 c.1155G>A c.(1153-1155)ggG>ggA p.G385G ITGA10_ENST00000539363.1_Silent_p.G242G|ITGA10_ENST00000538811.1_Silent_p.G254G NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 385 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CACAGGATGGGATTCTTTTTG 0.532000 25 84 0 0 0.005443 0 0 CD163 9332 broad.mit.edu 37 12 7639347 7639347 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:7639347G>A ENST00000359156.4 - 10 2408 c.2206C>T c.(2206-2208)Cat>Tat p.H736Y CD163_ENST00000541972.1_Missense_Mutation_p.H724Y|CD163_ENST00000432237.2_Missense_Mutation_p.H736Y|CD163_ENST00000396620.3_Missense_Mutation_p.H769Y NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 736 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GAGCCCTCATGATAGATCTCT 0.517000 25 32 0 0 0.007291 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524126 24524126 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:24524126G>A ENST00000376862.3 + 2 1026 c.393G>A c.(391-393)ggG>ggA p.G131G NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 131 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 ACCCGGATGGGAAGTTCATTG 0.597000 47 46 0 0 0.014410 0 0 MINK1 50488 broad.mit.edu 37 17 4798781 4798781 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:4798781C>T ENST00000355280.6 + 26 3418 c.3222C>T c.(3220-3222)acC>acT p.T1074T MINK1_ENST00000453408.3_Silent_p.T1054T|MINK1_ENST00000347992.7_Silent_p.T1045T NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 1074 CNH.|Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TGCTCATCACCATCTCAGGTA 0.617000 13 15 0 0 0.002450 0 0 SCN4A 6329 broad.mit.edu 37 17 62022096 62022096 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:62022096G>A ENST00000435607.1 - 21 3925 c.3849C>T c.(3847-3849)tcC>tcT p.S1283S SCN4A_ENST00000578147.1_Silent_p.S1283S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1283 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGTGAAGAAGGAGCCAAAGA 0.547000 4 8 0 0 0.009096 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734369 28734369 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:28734369C>T ENST00000550043.1 + 0 774 TGACTTGGTTCGTTAGTGGAT 0.473000 7 11 0 0 0.001984 0 0 AC015849.16 0 broad.mit.edu 37 17 34233525 34233525 + RNA SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:34233525G>A ENST00000587132.1 - 0 4502 AGGCTGAGCTGGGGCATCTTG 0.507000 10 13 0 0 0.006214 0 0 PCDH18 54510 broad.mit.edu 37 4 138442490 138442490 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:138442490G>A ENST00000344876.4 - 4 3487 c.3101C>T c.(3100-3102)tCc>tTc p.S1034F PCDH18_ENST00000510305.1_Missense_Mutation_p.S245F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S1033F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S214F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S813F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1034 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCGCTCCAGGGAGTTGGACCG 0.562000 18 24 0 0 0.006122 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77354998 77354998 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:77354998G>A ENST00000282849.5 - 15 2683 c.2265C>T c.(2263-2265)taC>taT p.Y755Y NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 755 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCTGGTTGAGGTACAGGCCTT 0.398000 30 1 0 0 0.013726 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22884668 22884668 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:22884668G>A ENST00000276431.4 - 7 1198 c.914C>T c.(913-915)cCc>cTc p.P305L TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P276L|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.P125L NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 305 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TGACTCCCCGGGGGACAACAT 0.562000 18 19 0 0 0.004990 0 0 NPHS2 7827 broad.mit.edu 37 1 179523637 179523637 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:179523637C>T ENST00000367615.4 - 6 836 c.768G>A c.(766-768)tgG>tgA p.W256* AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Nonsense_Mutation_p.W188* NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 256 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CTTTGATTCCCCAAATACAGG 0.408000 22 95 0 0 0.004656 0 0 INHA 3623 broad.mit.edu 37 2 220439751 220439751 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:220439751C>T ENST00000243786.2 + 2 784 c.604C>T c.(604-606)Ctc>Ttc p.L202F INHA_ENST00000489456.1_3'UTR NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 202 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCGCTGTCCCCTCTGTACCTG 0.682000 27 24 0 0 0.005443 0 0 IMPDH1 3614 broad.mit.edu 37 7 128040203 128040203 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:128040203G>A ENST00000338791.6 - 9 1170 c.820C>T c.(820-822)Cca>Tca p.P274S IMPDH1_ENST00000378717.4_Missense_Mutation_p.P205S|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P264S|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P238S|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P164S|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P188S|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P184S|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P164S|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P241S NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 189 LD -> FH (in Ref. 1; AAA36114). GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ACACCTGCTGGAGCCACCACC 0.567000 59 75 0 0 0.014410 0 0 DMBT1 1755 broad.mit.edu 37 10 124358464 124358464 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:124358464G>A ENST00000338354.3 + 26 3237 c.3131G>A c.(3130-3132)gGa>gAa p.G1044E DMBT1_ENST00000368956.2_Missense_Mutation_p.G545E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G545E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1034E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1044E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1034E Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1044 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCCCCAGGAAATGCCCGG 0.612000 86 113 0 0 0.014410 0 0 LEFTY2 7044 broad.mit.edu 37 1 226127586 226127586 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:226127586C>T ENST00000366820.5 - 2 715 c.367G>A c.(367-369)Gag>Aag p.E123K LEFTY2_ENST00000420304.2_Intron|LEFTY2_ENST00000474493.1_5'UTR NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 123 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GGGACCGGCTCCTGGAAGAGC 0.746000 10 3 0 0 0.006214 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635679 141635679 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:141635679C>T ENST00000546910.1 - 5 476 c.280G>A c.(280-282)Gaa>Aaa p.E94K CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E71K|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E71K|CLEC5A_ENST00000439991.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 94 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCCCTGCTTTCATTCCAAGAT 0.428000 28 32 0 0 0.007291 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599049 136599049 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:136599049C>T ENST00000531224.1 - 4 1222 c.970G>A c.(970-972)Gat>Aat p.D324N BCLAF1_ENST00000392348.2_Missense_Mutation_p.D322N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D322N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D324N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D322N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D324N NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 324 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTCCACCATCAGGATAAAAC 0.388000 12 40 0 0 0.003163 0 0 EPHB6 2051 broad.mit.edu 37 7 142568295 142568295 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:142568295C>T ENST00000392957.2 + 19 3601 c.2814C>T c.(2812-2814)gcC>gcT p.A938A EPHB6_ENST00000442129.1_Silent_p.A938A|EPHB6_ENST00000411471.2_Silent_p.A661A|EPHB6_ENST00000476059.1_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 938 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CTTCCCAGGCCCTTCTGACCC 0.567000 38 43 0 0 0.006999 0 0 NPHS1 4868 broad.mit.edu 37 19 36333297 36333297 + Silent SNP G G A rs114635782 by1000genomes TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:36333297G>A ENST00000378910.5 - 18 2489 c.2490C>T c.(2488-2490)ctC>ctT p.L830L NPHS1_ENST00000353632.6_Silent_p.L830L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 830 Ig-like C2-type 7. 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) CAACAAGACGGAGCAGCCGTC 0.582000 18 35 0 0 0.006122 0 0 WDR72 256764 broad.mit.edu 37 15 54025359 54025359 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:54025359C>T ENST00000396328.1 - 2 228 c.e2-1 WDR72_ENST00000557913.1_Splice_Site|WDR72_ENST00000360509.5_Splice_Site|WDR72_ENST00000559418.1_5'UTR NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGGGCGAATCCTGACATACAA 0.458000 17 23 0 0 0.004990 0 0 ZNF532 55205 broad.mit.edu 37 18 56587575 56587575 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:56587575C>T ENST00000336078.4 + 4 2832 c.2056C>T c.(2056-2058)Cca>Tca p.P686S ZNF532_ENST00000591808.1_Missense_Mutation_p.P686S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P686S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P686S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P686S NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AAAGCCAGTCCCAGCAGATCA 0.468000 39 42 0 0 0.009718 0 0 MYO3B 140469 broad.mit.edu 37 2 171258164 171258164 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:171258164C>T ENST00000334231.6 + 18 2119 c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C MYO3B_ENST00000408978.4_Missense_Mutation_p.R698C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R698C Q8WXR4 MYO3B_HUMAN myosin IIIB 698 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GATTGTGAATCGCATTAATAC 0.547000 19 18 0 0 0.007413 0 0 RSG1 79363 broad.mit.edu 37 1 16559008 16559008 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:16559008G>A ENST00000375599.3 - 4 943 c.524C>T c.(523-525)tCc>tTc p.S175F NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 175 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 AGGATACTTGGAGCCGATGAC 0.582000 6 19 0 0 0.001168 0 0 EPHB6 2051 broad.mit.edu 37 7 142568296 142568296 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:142568296C>T ENST00000392957.2 + 19 3602 c.2815C>T c.(2815-2817)Ctt>Ttt p.L939F EPHB6_ENST00000442129.1_Missense_Mutation_p.L939F|EPHB6_ENST00000411471.2_Missense_Mutation_p.L662F|EPHB6_ENST00000476059.1_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 939 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TTCCCAGGCCCTTCTGACCCC 0.562000 39 43 0 0 0.007835 0 0 RNF43 54894 broad.mit.edu 37 17 56434905 56434905 + Silent SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:56434905A>T ENST00000584437.1 - 8 4187 c.2232T>A c.(2230-2232)ccT>ccA p.P744P RNF43_ENST00000581868.1_Silent_p.P617P|RNF43_ENST00000407977.2_Silent_p.P744P|RNF43_ENST00000577716.1_Silent_p.P744P|RNF43_ENST00000577625.1_Silent_p.P617P|RNF43_ENST00000500597.2_Silent_p.P703P|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Silent_p.P703P Q68DV7 RNF43_HUMAN ring finger protein 43 744 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCATTCAGAAGGCCCCTCCC 0.602000 22 41 0 0 0.014323 0 0 DBX2 440097 broad.mit.edu 37 12 45429837 45429837 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:45429837G>A ENST00000332700.6 - 2 635 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) gcgccgacaggacccaccgca 0.478000 18 17 0 0 0.012319 0 0 ZNF208 7757 broad.mit.edu 37 19 22155343 22155343 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:22155343C>T ENST00000397126.4 - 4 2641 c.2493G>A c.(2491-2493)aaG>aaA p.K831K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTGTAGGGCTTTTCTCCAG 0.373000 17 22 0 0 0.007413 0 0 ACTN2 88 broad.mit.edu 37 1 236906244 236906244 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:236906244G>A ENST00000366578.4 + 11 1322 c.1156G>A c.(1156-1158)Gag>Aag p.E386K ACTN2_ENST00000542672.1_Missense_Mutation_p.E386K|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 386 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) GAAGGGTTACGAGGAGTGGTT 0.542000 30 62 0 0 0.008361 0 0 PMS1 5378 broad.mit.edu 37 2 190717402 190717402 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:190717402C>T ENST00000441310.2 + 7 954 c.721C>T c.(721-723)Cca>Tca p.P241S PMS1_ENST00000409823.3_Missense_Mutation_p.P202S|PMS1_ENST00000447232.2_Missense_Mutation_p.P241S|PMS1_ENST00000418224.3_Missense_Mutation_p.P65S|PMS1_ENST00000432292.3_Missense_Mutation_p.P65S|PMS1_ENST00000421722.1_3'UTR NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 241 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TGGATTTCTTCCAAAGTGTGA 0.338000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 29 36 0 0 0.007291 0 0 IGSF1 3547 broad.mit.edu 37 X 130412483 130412483 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:130412483C>T ENST00000370904.1 - 18 2876 c.1966G>A c.(1966-1968)Gag>Aag p.E656K IGSF1_ENST00000370903.3_Missense_Mutation_p.E670K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E656K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E665K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 665 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACAGCCATCTCCTCCCATGAA 0.637000 34 2 0 0 0.003755 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895296 45895296 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:45895296G>A ENST00000418234.2 - 8 1735 c.1657C>T c.(1657-1659)Cgt>Tgt p.R553C PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R553C NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 553 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCCCCATGACGATGGAAGAGG 0.692000 29 39 0 0 0.013726 0 0 TRIM59 286827 broad.mit.edu 37 3 160156874 160156874 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:160156874C>T ENST00000543469.1 - 2 312 c.98G>A c.(97-99)tGt>tAt p.C33Y TRIM59_ENST00000309784.4_Missense_Mutation_p.C33Y|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.C33Y Q8IWR1 TRI59_HUMAN tripartite motif containing 59 33 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTTTTCCAAACAATTTCTACA 0.353000 19 21 0 0 0.006122 0 0 PLEK 5341 broad.mit.edu 37 2 68621305 68621305 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:68621305A>T ENST00000234313.7 + 8 1092 c.913A>T c.(913-915)Aat>Tat p.N305Y NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 305 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GAGCAACTCAAATGGTAAGAT 0.458000 30 45 0 0 0.004289 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351926 42351926 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:42351926G>A ENST00000269945.3 + 3 398 c.347G>A c.(346-348)gGa>gAa p.G116E DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.G116E NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 116 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.G116V(1) endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TTCAGAAAGGGAACCACTCAG 0.597000 7 2 0 0 0.001984 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737496 62737496 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:62737496A>G ENST00000369768.1 - 1 1028 c.689T>C c.(688-690)gTg>gCg p.V230A NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 230 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TGTGTAGAGCACACAGATGGT 0.662000 17 14 0 0 0.004990 0 0 KIF26B 55083 broad.mit.edu 37 1 245704168 245704168 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:245704168G>A ENST00000366518.4 + 2 227 c.123G>A c.(121-123)ggG>ggA p.G41G KIF26B_ENST00000407071.2_Silent_p.G422G Q2KJY2 KI26B_HUMAN kinesin family member 26B 422 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCTTCAGTGGGATTCTGCAGA 0.587000 28 87 0 0 0.007291 0 0 KRT8 3856 broad.mit.edu 37 12 53291251 53291251 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:53291251C>T ENST00000552551.1 - 9 1845 c.1413G>A c.(1411-1413)ggG>ggA p.G471G KRT8_ENST00000552150.1_Silent_p.G499G|KRT8_ENST00000546897.1_Silent_p.G471G|KRT8_ENST00000293308.6_Silent_p.G471G P05787 K2C8_HUMAN keratin 8 471 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACCAGCTTCCCATCACGTG 0.657000 19 38 0 0 0.014323 0 0 COL6A6 131873 broad.mit.edu 37 3 130282280 130282280 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:130282280G>A ENST00000358511.6 + 2 464 c.433G>A c.(433-435)Gat>Aat p.D145N COL6A6_ENST00000453409.2_Missense_Mutation_p.D145N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 145 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGAGTCTGAGGATAATGTGGA 0.502000 13 20 0 0 0.001855 0 0 ADAM15 8751 broad.mit.edu 37 1 155028639 155028639 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:155028639C>T ENST00000356955.2 + 9 929 c.828C>T c.(826-828)aaC>aaT p.N276N ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Silent_p.N276N|ADAM15_ENST00000359280.4_Silent_p.N276N|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Silent_p.N276N|ADAM15_ENST00000449910.2_Silent_p.N276N|ADAM15_ENST00000447332.3_Silent_p.N260N|ADAM15_ENST00000355956.2_Silent_p.N276N|ADAM15_ENST00000368412.3_Silent_p.N276N|ADAM15_ENST00000531455.1_Silent_p.N286N NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 276 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCAGCCCAAACCCAGCTGTCA 0.612000 16 70 0 0 0.007413 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153314218 153314218 + Silent SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:153314218T>C ENST00000368739.3 - 6 856 c.498A>G c.(496-498)gaA>gaG p.E166E PGLYRP4_ENST00000359650.5_Silent_p.E170E Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 170 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGATTAGGTTTTCCATGGCCG 0.557000 48 111 0 0 0.014410 0 0 SV2C 22987 broad.mit.edu 37 5 75427872 75427872 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:75427872G>A ENST00000502798.2 + 2 739 c.297G>A c.(295-297)atG>atA p.M99I SV2C_ENST00000322285.7_Missense_Mutation_p.M99I NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 99 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCCCCAGTATGAACCAAGCGA 0.557000 9 12 0 0 0.004482 0 0 SLC35A2 7355 broad.mit.edu 37 X 48763720 48763720 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:48763720C>T ENST00000376521.1 - 3 696 c.375G>A c.(373-375)caG>caA p.Q125Q SLC35A2_ENST00000376512.1_Silent_p.Q125Q|SLC35A2_ENST00000413561.2_Silent_p.Q64Q|SLC35A2_ENST00000452555.2_Silent_p.Q153Q|SLC35A2_ENST00000376529.3_Silent_p.Q125Q|SLC35A2_ENST00000247138.5_Silent_p.Q125Q|SLC35A2_ENST00000376515.3_Silent_p.Q101Q|SLC35A2_ENST00000445167.2_Silent_p.Q125Q NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 125 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 GGAGGTTATTCTGCAAGGTGT 0.552000 14 0 0 0 0.001855 0 0 SGMS1 259230 broad.mit.edu 37 10 52066985 52066985 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:52066985G>A ENST00000361781.2 - 11 2118 c.1159C>T c.(1159-1161)Cga>Tga p.R387* SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218* NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 393 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity p.R387*(1) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TGGTAAGATCGAGGTACAATT 0.493000 15 16 0 0 0.003163 0 0 SCG3 29106 broad.mit.edu 37 15 51975550 51975550 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:51975550G>A ENST00000220478.3 + 4 719 c.316G>A c.(316-318)Gaa>Aaa p.E106K SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 106 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) GTTGAATGTGGAAGATGTTGA 0.323000 35 61 0 0 0.004289 0 0 RELN 5649 broad.mit.edu 37 7 103389894 103389894 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:103389894A>C ENST00000428762.1 - 6 794 c.635T>G c.(634-636)cTg>cGg p.L212R RELN_ENST00000343529.5_Missense_Mutation_p.L212R|RELN_ENST00000424685.2_Missense_Mutation_p.L212R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 212 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTTAATTGCAGTTGGTGGTA 0.353000 27 46 0 0 0.009535 0 0 PRKG1 5592 broad.mit.edu 37 10 54040626 54040626 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:54040626G>A ENST00000373980.4 + 13 1898 c.1481G>A c.(1480-1482)gGa>gAa p.G494E PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.G197E|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.G467E|PRKG1_ENST00000401604.2_Missense_Mutation_p.G479E NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 479 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CATTCCAAAGGAATCATTTAC 0.438000 27 24 0 0 0.007291 0 0 PGA3 643834 broad.mit.edu 37 11 60971722 60971722 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:60971722C>T ENST00000325558.6 + 2 385 c.200C>T c.(199-201)cCc>cTc p.P67L NM_001079807.1 NP_001073275.1 pepsinogen 3, group I (pepsinogen A) endometrium(1)|lung(1)|ovary(1)|skin(2) 5 GATGAACAGCCCCTGGAGAAC 0.602000 40 65 0 0 0.011902 0 0 IRS1 3667 broad.mit.edu 37 2 227660787 227660787 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:227660787G>A ENST00000305123.4 - 1 3688 c.2668C>T c.(2668-2670)Ccc>Tcc p.P890S NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 890 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGCTCTTGGGCTCTGGAGGG 0.617000 36 25 0 0 0.003271 0 0 ADH1A 124 broad.mit.edu 37 4 100205629 100205629 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:100205629G>A ENST00000209668.2 - 5 607 c.494C>T c.(493-495)tCg>tTg p.S165L RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 165 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTCTAGAGGCGAGGCTGCATC 0.478000 24 23 0 0 0.003330 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527656 70527656 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:70527656C>T ENST00000381269.2 - 3 2538 c.1784_splice c.e3-1 p.V595_splice SLC8A3_ENST00000534137.1_Splice_Site_p.V595_splice|SLC8A3_ENST00000356921.2_Splice_Site_p.V595_splice|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000216568.7_5'UTR NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 595 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTATGGTTTTCCTGTAGGGAC 0.458000 8 14 0 0 0.004482 0 0 OR1B1 347169 broad.mit.edu 37 9 125391016 125391016 + Missense_Mutation SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:125391016G>T ENST00000304833.3 - 1 836 c.799C>A c.(799-801)Cag>Aag p.Q267K RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 AAGGGAGGCTGGAAGTAGACA 0.517000 25 14 2.39556e-15 2.73427e-15 0.002780 1 0 ME1 4199 broad.mit.edu 37 6 83947538 83947538 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:83947538C>T ENST00000369705.3 - 9 1040 c.924G>A c.(922-924)ggG>ggA p.G308G ME1_ENST00000543031.1_Silent_p.G233G|ME1_ENST00000541327.1_Silent_p.G142G NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 308 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) GGTGTGCAATCCCTAGGGCAG 0.358000 9 2 0 0 0.004482 0 0 DCAF6 55827 broad.mit.edu 37 1 167973951 167973951 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:167973951C>T ENST00000367840.3 + 10 1392 c.1298C>T c.(1297-1299)tCt>tTt p.S433F DCAF6_ENST00000367843.3_Missense_Mutation_p.S433F|DCAF6_ENST00000312263.6_Missense_Mutation_p.S433F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S402F NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 433 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AGCCCTCATTCTACTCCTTTG 0.463000 76 33 0 0 0.014410 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563018 140563018 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140563018A>T ENST00000361016.2 + 1 2039 c.884A>T c.(883-885)aAt>aTt p.N295I NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 295 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGGAGGTAAATCCTATGACA 0.463000 18 21 0 0 0.007413 0 0 KCNH1 3756 broad.mit.edu 37 1 210977359 210977359 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:210977359C>T ENST00000367007.4 - 8 1700 c.1531G>A c.(1531-1533)Gat>Aat p.D511N KCNH1_ENST00000271751.4_Missense_Mutation_p.D538N NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 538 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) ACAATATAATCCATTACTCGC 0.468000 84 29 0 0 0.014410 0 0 TRIM29 23650 broad.mit.edu 37 11 120008301 120008301 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:120008301C>T ENST00000341846.5 - 1 860 c.439G>A c.(439-441)Gag>Aag p.E147K NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 147 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CGCCGGGTCTCCCCGGGCTCC 0.632000 43 49 0 0 0.014410 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148985629 148985629 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:148985629C>T ENST00000336498.3 + 22 2482 c.2243C>T c.(2242-2244)tCt>tTt p.S748F ARHGAP10_ENST00000414545.2_Missense_Mutation_p.S346F NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 748 SH3. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TCGGAATTATCTTTTGAAATA 0.443000 24 16 0 0 0.003330 0 0 ABCC8 6833 broad.mit.edu 37 11 17449913 17449913 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:17449913C>T ENST00000302539.4 - 14 2088 c.1963G>A c.(1963-1965)Gat>Aat p.D655N ABCC8_ENST00000389817.3_Missense_Mutation_p.D655N NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 655 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCCCGACAATCCTCCCGGGCT 0.662000 105 96 0 0 0.014410 0 0 CNGA3 1261 broad.mit.edu 37 2 99012791 99012791 + Silent SNP G G A rs146142409 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:99012791G>A ENST00000393504.1 + 8 1575 c.1158G>A c.(1156-1158)ttG>ttA p.L386L CNGA3_ENST00000436404.2_Silent_p.L368L|CNGA3_ENST00000409937.1_Silent_p.L390L|CNGA3_ENST00000272602.2_Silent_p.L386L NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 386 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TAGACTTCTTGGTGGGTGTTC 0.502000 24 23 0 0 0.003330 0 0 SOD3 6649 broad.mit.edu 37 4 24801434 24801434 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:24801434C>T ENST00000382120.3 + 2 496 c.291C>T c.(289-291)ttC>ttT p.F97F NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 97 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) ACGCCTTCTTCGCCCTGGAGG 0.736000 4 1 0 0 0.009096 0 0 CES1 1066 broad.mit.edu 37 16 55844441 55844441 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:55844441G>A ENST00000422046.2 - 11 1581 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W CES1_ENST00000361503.4_Missense_Mutation_p.R435W|CES1_ENST00000360526.3_Missense_Mutation_p.R436W P23141 EST1_HUMAN carboxylesterase 1 435 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CTGTGGTTCCGGGCCACAATC 0.512000 28 28 0 0 0.006320 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681805 69681805 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:69681805G>A ENST00000265403.7 + 1 95 c.68G>A c.(67-69)gGa>gAa p.G23E UGT2B10_ENST00000458688.2_Missense_Mutation_p.G23E NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 23 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GGGAGTTGTGGAAAGGTGCTG 0.438000 48 67 0 0 0.014410 0 0 IL23R 149233 broad.mit.edu 37 1 67635190 67635190 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:67635190G>A ENST00000347310.5 + 3 407 c.236G>A c.(235-237)aGg>aAg p.R79K C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.R79K NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 79 inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 CAAATCACAAGGATTAATAAA 0.343000 20 42 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179590751 179590751 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179590751G>A ENST00000589042.1 - 70 20522 c.20298C>T c.(20296-20298)ttC>ttT p.F6766F TTN_ENST00000591111.1_Silent_p.F6449F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5522F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6449 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATAGGAGGGAAGCTGCTAA 0.378000 19 31 0 0 0.010504 0 0 ZNF534 147658 broad.mit.edu 37 19 52941068 52941068 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:52941068G>A ENST00000332323.6 + 4 455 c.394G>A c.(394-396)Gaa>Aaa p.E132K ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E119K NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ACATCTGACTGAATGGCAGCC 0.348000 9 20 0 0 0.006214 0 0 TRAV3 28690 broad.mit.edu 37 14 22192091 22192091 + RNA SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:22192091G>A ENST00000390425.2 + 0 132 AGGTGGGCTGGAAAGGACCCC 0.582000 29 29 0 0 0.007291 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255506 140255506 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140255506C>T ENST00000398631.2 + 1 449 c.449C>T c.(448-450)tCt>tTt p.S150F PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTGGACTCTCATTTTCCT 0.448000 27 39 0 0 0.005443 0 0 ENPEP 2028 broad.mit.edu 37 4 111469471 111469471 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:111469471C>T ENST00000265162.5 + 14 2482 c.2140C>T c.(2140-2142)Cct>Tct p.P714S NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 714 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGAGCTATATCCTATGATTGA 0.368000 16 23 0 0 0.004007 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458690 120458690 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:120458690G>A ENST00000256646.2 - 34 6874 c.6655C>T c.(6655-6657)Ccc>Tcc p.P2219S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2219 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCACTGAGGGAAGCACAGTG 0.572000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 178 287 0 0 0.014410 0 0 BANK1 55024 broad.mit.edu 37 4 102951364 102951364 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:102951364C>T ENST00000504592.1 + 14 2215 c.1797C>T c.(1795-1797)ccC>ccT p.P599P BANK1_ENST00000444316.2_Silent_p.P584P|BANK1_ENST00000428908.1_Silent_p.P481P|BANK1_ENST00000508653.1_Silent_p.P481P|BANK1_ENST00000322953.4_Silent_p.P614P|RP11-498M5.2_ENST00000505091.1_RNA Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 614 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTCCTGCCCCCACACCCCGAC 0.373000 17 25 0 0 0.006122 0 0 MICALCL 84953 broad.mit.edu 37 11 12316195 12316195 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:12316195C>T ENST00000256186.2 + 3 1508 c.1217C>T c.(1216-1218)tCt>tTt p.S406F NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 406 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AAAGACAAATCTTTTGAGAGT 0.473000 36 57 0 0 0.004289 0 0 TBC1D16 125058 broad.mit.edu 37 17 77915864 77915864 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:77915864G>A ENST00000310924.2 - 11 2165 c.2050C>T c.(2050-2052)Cgg>Tgg p.R684W TBC1D16_ENST00000576768.1_Missense_Mutation_p.R309W|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R322W NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 684 intracellular Rab GTPase activator activity p.R684G(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CTCACCTTCCGGAGAACGAGC 0.647000 8 7 0 0 0.003080 0 0 PCMTD2 55251 broad.mit.edu 37 20 62895799 62895799 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:62895799C>T ENST00000308824.6 + 3 452 c.325C>T c.(325-327)Cat>Tat p.H109Y PCMTD2_ENST00000299468.7_Missense_Mutation_p.H109Y|PCMTD2_ENST00000369758.3_Missense_Mutation_p.H109Y NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 109 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGGTGTGAACCATGGGGTGGA 0.383000 8 14 0 0 0.003080 0 0 RAG2 5897 broad.mit.edu 37 11 36614842 36614842 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:36614842C>T ENST00000311485.3 - 2 1038 c.877G>A c.(877-879)Gag>Aag p.E293K NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 293 E -> G (in dbSNP:rs16929093). chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTGTTGTCCTCTAAAGAGATG 0.398000 Familial Hemophagocytic Lymphohistiocytosis 41 45 0 0 0.006230 0 0 RABL2A 11159 broad.mit.edu 37 2 114391763 114391763 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:114391763C>T ENST00000409875.1 + 5 473 c.171C>T c.(169-171)acC>acT p.T57T RABL2A_ENST00000376439.3_Silent_p.T57T|RABL2A_ENST00000393166.3_Silent_p.T57T|RABL2A_ENST00000393167.3_Silent_p.T57T|RABL2A_ENST00000409842.1_Silent_p.T57T|RABL2A_ENST00000393165.3_Silent_p.T57T Q9UBK7 RBL2A_HUMAN RAB, member of RAS oncogene family-like 2A 57 small GTPase mediated signal transduction GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3) 9 ACGCCCTGACCCTGTACAAGC 0.547000 4 8 0 0 0.000602 0 0 TRPC4 7223 broad.mit.edu 37 13 38357311 38357311 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:38357311C>T ENST00000379705.3 - 2 1017 c.160G>A c.(160-162)Gaa>Aaa p.E54K TRPC4_ENST00000426868.2_Missense_Mutation_p.E54K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E54K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E54K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E54K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E54K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E54K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E54K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E54K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 54 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) atttcAGCTTCCTCTAGGGAT 0.388000 53 98 0 0 0.014410 0 0 HOXA3 3200 broad.mit.edu 37 7 27147736 27147736 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:27147736T>C ENST00000396352.4 - 3 1329 c.1130A>G c.(1129-1131)aAc>aGc p.N377S HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.N377S NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 377 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TGGCCCGGAGTTGCTCATGGG 0.682000 7 14 0 0 0.003080 0 0 SSPO 23145 broad.mit.edu 37 7 149523807 149523807 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:149523807C>T ENST00000378016.2 + 0 14620 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) CACTGCCTGCCCCTGCACCCA 0.682000 5 9 0 0 0.000602 0 0 ZNF836 162962 broad.mit.edu 37 19 52659922 52659922 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:52659922G>A ENST00000322146.8 - 5 1535 c.1014C>T c.(1012-1014)acC>acT p.T338T CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T338T NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTTGTTTGAAGGTTTTCCCAC 0.388000 6 11 0 0 0.001168 0 0 CCDC108 255101 broad.mit.edu 37 2 219888018 219888018 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:219888018G>A ENST00000341552.5 - 16 2814 c.2731C>T c.(2731-2733)Ctg>Ttg p.L911L CCDC108_ENST00000453220.1_Silent_p.L911L|CCDC108_ENST00000441968.1_Silent_p.L911L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 911 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCGAACTGCAGGGGCAGACGC 0.622000 12 20 0 0 0.013537 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727586 20727586 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:20727586G>A ENST00000427401.4 - 4 1517 c.1423C>T c.(1423-1425)Cat>Tat p.H475Y NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 475 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCTCCAGTATGAATTCTCTTA 0.408000 4 6 0 0 0.009096 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600773 147600773 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:147600773C>T ENST00000361727.3 + 14 2731 c.2215C>T c.(2215-2217)Ccc>Tcc p.P739S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 739 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGCACAGATCCCAAGTACTA 0.567000 HNSCC(39;0.1) 7 11 0 0 0.001984 0 0 SNRNP27 11017 broad.mit.edu 37 2 70131502 70131502 + Silent SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:70131502A>G ENST00000409116.1 + 5 491 c.465A>G c.(463-465)gtA>gtG p.V155V SNRNP27_ENST00000244227.3_3'UTR Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 0 mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 TGGATTTTGTATTTTGTATTT 0.333000 12 10 0 0 0.010729 0 0 COPA 1314 broad.mit.edu 37 1 160282958 160282958 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:160282958C>T ENST00000241704.7 - 10 1072 c.e10-1 COPA_ENST00000368069.3_Splice_Site NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACCCCAGTCCTAGAAAAGGT 0.428000 12 39 0 0 0.013537 0 0 NPY1R 4886 broad.mit.edu 37 4 164247459 164247459 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:164247459G>A ENST00000296533.2 - 2 779 c.248C>T c.(247-249)tCc>tTc p.S83F NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 83 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTCTGAGAAGGAAAGGTTCAC 0.418000 15 14 0 0 0.003163 0 0 ALPPL2 251 broad.mit.edu 37 2 233272013 233272013 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:233272013G>A ENST00000295453.3 + 3 254 c.202G>A c.(202-204)Gtg>Atg p.V68M NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 68 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GGTGTCTACGGTGACAGCTGC 0.627000 14 24 0 0 0.003163 0 0 BTNL8 79908 broad.mit.edu 37 5 180374621 180374621 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:180374621C>T ENST00000231229.4 + 4 1017 c.783C>T c.(781-783)ttC>ttT p.F261F BTNL8_ENST00000508408.1_Silent_p.F261F|BTNL8_ENST00000511704.1_Silent_p.F145F|BTNL8_ENST00000533815.2_Silent_p.F77F|BTNL8_ENST00000505126.1_Silent_p.F54F|BTNL8_ENST00000340184.4_Silent_p.F261F|BTNL8_ENST00000400707.3_Silent_p.F136F NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 261 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCAAATTCCAGTGTAAGC 0.493000 97 112 0 0 0.014410 0 0 PRSS55 203074 broad.mit.edu 37 8 10390430 10390430 + Missense_Mutation SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:10390430G>T ENST00000328655.3 + 4 653 c.613G>T c.(613-615)Gtg>Ttg p.V205L PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.V205L NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 205 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CAAAAACTCTGTGAAAACGGA 0.507000 18 31 2.4624e-09 2.79975e-09 0.008871 1 0 ABCG5 64240 broad.mit.edu 37 2 44040275 44040275 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:44040275C>T ENST00000543989.1 - 9 2456 c.751G>A c.(751-753)Gat>Aat p.D251N ABCG5_ENST00000405322.1_Missense_Mutation_p.D475N|ABCG5_ENST00000260645.1_Missense_Mutation_p.D646N Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 646 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATGAGATGATCCCTTATTTTG 0.423000 71 99 0 0 0.014410 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001314 13001314 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:13001314C>T ENST00000376189.1 - 3 468 c.369G>A c.(367-369)ggG>ggA p.G123G PRAMEF6_ENST00000415464.2_Silent_p.G123G|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 123 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGAGGAAGCACCCACGGGCCA 0.498000 39 102 0 0 0.014410 0 0 UROC1 131669 broad.mit.edu 37 3 126224817 126224817 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:126224817C>T ENST00000290868.2 - 7 693 c.640G>A c.(640-642)Ggt>Agt p.G214S UROC1_ENST00000383579.3_Missense_Mutation_p.G214S NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 214 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CCCTGGGGACCGATGTAGCAG 0.662000 22 19 0 0 0.003954 0 0 BTBD16 118663 broad.mit.edu 37 10 124050683 124050683 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:124050683C>T ENST00000368994.2 + 7 818 c.567C>T c.(565-567)atC>atT p.I189I BTBD16_ENST00000260723.4_Silent_p.I188I Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 188 BTB. 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) CCGCCCACATCCTCCAGTTCA 0.577000 39 44 0 0 0.006999 0 0 RHBDL2 54933 broad.mit.edu 37 1 39361666 39361666 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:39361666C>T ENST00000289248.2 - 5 1592 c.584G>A c.(583-585)gGa>gAa p.G195E RHBDL2_ENST00000372990.1_Missense_Mutation_p.G195E|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G262E|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G275E Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 195 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AAAATAGCCTCCCATCAGAGC 0.428000 12 18 0 0 0.004007 0 0 IGHM 3507 broad.mit.edu 37 14 106322139 106322139 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:106322139C>T ENST00000390559.2 - 0 184 GTACTTGCCCCCTCTCAGGAC 0.582000 18 24 0 0 0.006122 0 0 ZNF98 148198 broad.mit.edu 37 19 22575763 22575763 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:22575763G>A ENST00000357774.5 - 4 395 c.274C>T c.(274-276)Caa>Taa p.Q92* NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CAAAGGTCTTGGGCAAAATAA 0.269000 3 1 0 0 0.009096 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558598 129558598 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:129558598T>A ENST00000422113.2 - 9 3448 c.3122A>T c.(3121-3123)aAa>aTa p.K1041I TMEM132D_ENST00000389441.4_Missense_Mutation_p.K579I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1041 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCTTTTCCTTTTTGAGGTAGG 0.483000 26 25 0 0 0.003954 0 0 MAPK8 5599 broad.mit.edu 37 10 49634038 49634038 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:49634038T>A ENST00000374189.1 + 8 977 c.796T>A c.(796-798)Tat>Aat p.Y266N MAPK8_ENST00000360332.3_Missense_Mutation_p.Y266N|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.Y266N P45983 MK08_HUMAN mitogen-activated protein kinase 8 266 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CAGACCTAAATATGCTGGATA 0.368000 26 27 0 0 0.004656 0 0 ISX 91464 broad.mit.edu 37 22 35478599 35478599 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:35478599C>T ENST00000308700.6 + 2 1270 c.318C>T c.(316-318)taC>taT p.Y106Y ISX_ENST00000404699.2_Silent_p.Y106Y NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 106 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 TTACCCACTACCCAGACGTTC 0.587000 23 24 0 0 0.012319 0 0 LAMA5 3911 broad.mit.edu 37 20 60921769 60921769 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:60921769T>A ENST00000252999.3 - 8 1226 c.1160A>T c.(1159-1161)tAt>tTt p.Y387F LAMA5_ENST00000370692.3_Missense_Mutation_p.Y387F|LAMA5_ENST00000370677.3_Missense_Mutation_p.Y387F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 387 Laminin EGF-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCACCCTGATAGGTGCCATC 0.657000 14 14 0 0 0.004007 0 0 BTC 685 broad.mit.edu 37 4 75673343 75673343 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:75673343G>A ENST00000395743.3 - 5 805 c.445C>T c.(445-447)Cgt>Tgt p.R149C NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 149 Arg/Lys-rich (basic). positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TTTCTTTTACGACGTTTCCGA 0.358000 11 19 0 0 0.013537 0 0 NLRP4 147945 broad.mit.edu 37 19 56363446 56363446 + Translation_Start_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:56363446G>A ENST00000301295.6 + 0 422 NLRP4_ENST00000346986.5_De_novo_Start_InFrame NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTCCAGAAAAGATGGCAGCCT 0.383000 31 45 0 0 0.012213 0 0 MYOM2 9172 broad.mit.edu 37 8 2040257 2040257 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:2040257G>A ENST00000262113.4 + 16 2053 c.1912G>A c.(1912-1914)Gag>Aag p.E638K MYOM2_ENST00000523438.1_Missense_Mutation_p.E63K NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 638 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACCTAAGCATGAGGAGGACCT 0.587000 48 64 0 0 0.014410 0 0 SYT8 90019 broad.mit.edu 37 11 1858457 1858457 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:1858457C>T ENST00000341958.3 + 8 1262 c.960C>T c.(958-960)agC>agT p.S320S SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.S334S Q8NBV8 SYT8_HUMAN synaptotagmin VIII 334 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGACCGCAGCCTGCCGCTCC 0.672000 7 16 0 0 0.004482 0 0 MYO3B 140469 broad.mit.edu 37 2 171073890 171073890 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:171073890C>T ENST00000334231.6 + 6 615 c.615C>T c.(613-615)ttC>ttT p.F205F MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.F196F|MYO3B_ENST00000408978.4_Silent_p.F196F Q8WXR4 MYO3B_HUMAN myosin IIIB 196 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCACCCCGTTCTGGATGGCCC 0.443000 54 80 0 0 0.014410 0 0 OR6K2 81448 broad.mit.edu 37 1 158670321 158670321 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:158670321C>T ENST00000359610.2 - 1 165 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GACCAGGTTTCCAACAACAAT 0.428000 19 51 0 0 0.007413 0 0 PSG6 5675 broad.mit.edu 37 19 43406586 43406586 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:43406586C>T ENST00000187910.2 - 6 1318 c.1253G>A c.(1252-1254)gGa>gAa p.G418E PSG6_ENST00000402603.4_Missense_Mutation_p.G325E NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) tgtctggtttccatggcaggg 0.443000 59 87 0 0 0.014410 0 0 NACA 4666 broad.mit.edu 37 12 57111978 57111978 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:57111978G>A ENST00000454682.1 - 3 3617 c.3336C>T c.(3334-3336)tcC>tcT p.S1112S NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTCCTTTTGGGGAGGGAGGAG 0.657000 T BCL6 NHL 29 37 0 0 0.007291 0 0 PADI3 51702 broad.mit.edu 37 1 17596805 17596805 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:17596805G>A ENST00000375460.3 + 7 770 c.730G>A c.(730-732)Ggg>Agg p.G244R NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 244 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.G244R(2) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCGCTTGCATGGGGATGAGGA 0.587000 36 36 0 0 0.004289 0 0 MUC20 200958 broad.mit.edu 37 3 195453261 195453261 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:195453261C>T ENST00000320736.6 + 3 1400 c.1274C>T c.(1273-1275)aCc>aTc p.T425I MUC20_ENST00000447234.2_Missense_Mutation_p.T596I|MUC20_ENST00000445522.2_Missense_Mutation_p.T561I|MUC20_ENST00000436408.1_Missense_Mutation_p.T596I NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 596 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GACATCGCAACCAAGGGGCCC 0.587000 5 24 0 0 0.001984 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49969019 49969019 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:49969019C>T ENST00000293350.4 + 13 1756 c.1593C>T c.(1591-1593)ttC>ttT p.F531F ALDH16A1_ENST00000540132.1_Silent_p.F368F|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.F480F|ALDH16A1_ENST00000433981.2_Silent_p.F366F NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 531 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) ATGGGCTCTTCGTTGGGGGCC 0.642000 26 36 0 0 0.006320 0 0 TNC 3371 broad.mit.edu 37 9 117846683 117846683 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:117846683C>T ENST00000350763.4 - 4 2347 c.1936G>A c.(1936-1938)Gag>Aag p.E646K TNC_ENST00000535648.1_Missense_Mutation_p.E646K|TNC_ENST00000341037.4_Missense_Mutation_p.E646K|TNC_ENST00000340094.3_Missense_Mutation_p.E646K|TNC_ENST00000345230.3_Missense_Mutation_p.E646K|TNC_ENST00000423613.2_Missense_Mutation_p.E646K|TNC_ENST00000537320.1_Missense_Mutation_p.E646K|TNC_ENST00000542877.1_Missense_Mutation_p.E646K|TNC_ENST00000346706.3_Missense_Mutation_p.E646K NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 646 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACCCGCATCTCATTGTCCCAG 0.557000 19 26 0 0 0.007413 0 0 SPOCK1 6695 broad.mit.edu 37 5 136328173 136328173 + Splice_Site SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:136328173T>C ENST00000394945.1 - 7 875 c.706_splice c.e7+1 p.R236_splice SPOCK1_ENST00000282223.7_Splice_Site_p.R236_splice NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 236 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGGTCTTACTGCCTTGGGCT 0.438000 28 34 0 0 0.012213 0 0 PAK2 5062 broad.mit.edu 37 3 196555215 196555215 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:196555215C>T ENST00000327134.3 + 15 1836 c.1514C>T c.(1513-1515)cCg>cTg p.P505L NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 505 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity p.P505Q(1) breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CTGGCCAAACCGTTATCTAGC 0.383000 43 75 0 0 0.014410 0 0 COLEC10 10584 broad.mit.edu 37 8 120118142 120118142 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:120118142G>A ENST00000332843.2 + 6 587 c.546G>A c.(544-546)atG>atA p.M182I NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 182 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) GGGGTGGAATGCTAGCCATGC 0.488000 20 16 0 0 0.014323 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001315 13001315 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:13001315C>T ENST00000376189.1 - 3 467 c.368G>A c.(367-369)gGg>gAg p.G123E PRAMEF6_ENST00000415464.2_Missense_Mutation_p.G123E|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 123 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAAGCACCCACGGGCCAT 0.498000 37 98 0 0 0.014410 0 0 USP37 57695 broad.mit.edu 37 2 219321865 219321865 + Missense_Mutation SNP G G A rs4292082 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:219321865G>A ENST00000258399.3 - 24 3075 c.2663C>T c.(2662-2664)tCg>tTg p.S888L USP37_ENST00000415516.1_Missense_Mutation_p.S794L|USP37_ENST00000418019.1_Missense_Mutation_p.S888L|USP37_ENST00000454775.1_Missense_Mutation_p.S888L NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 888 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GAGCCGGTACGAATGAGGCAG 0.353000 12 8 0 0 0.001855 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417694 25417694 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:25417694C>T ENST00000549301.1 + 0 472 SNHG14_ENST00000553149.1_RNA CTCAGCCCTCCCTGGCACTCT 0.627000 8 14 0 0 0.003080 0 0 SRRM1 10250 broad.mit.edu 37 1 24979044 24979044 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:24979044C>T ENST00000323848.9 + 7 1160 c.845C>T c.(844-846)tCc>tTc p.S282F SRRM1_ENST00000537199.1_Missense_Mutation_p.S151F|SRRM1_ENST00000447431.2_Missense_Mutation_p.S282F|SRRM1_ENST00000374389.4_Missense_Mutation_p.S282F|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 282 Arg-rich.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CGGTCACGCTCCAAATCAAGA 0.498000 14 20 0 0 0.001855 0 0 CREB3L2 64764 broad.mit.edu 37 7 137600734 137600734 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:137600734T>C ENST00000330387.6 - 3 695 c.344A>G c.(343-345)tAc>tGc p.Y115C CREB3L2_ENST00000452463.1_Missense_Mutation_p.Y115C|CREB3L2_ENST00000458726.1_Missense_Mutation_p.Y52C|CREB3L2_ENST00000456390.1_Missense_Mutation_p.Y115C NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 115 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TGTAGACAGGTACCATTTCTC 0.493000 T FUS fibromyxoid sarcoma 13 14 0 0 0.004007 0 0 C17orf53 78995 broad.mit.edu 37 17 42225989 42225989 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:42225989C>T ENST00000319977.4 + 3 1055 c.818C>T c.(817-819)tCc>tTc p.S273F C17orf53_ENST00000585683.1_Missense_Mutation_p.S273F|C17orf53_ENST00000245382.6_Missense_Mutation_p.S273F NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 273 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CCGCAACGCTCCCCTGTTCAA 0.557000 38 42 0 0 0.005524 0 0 BRWD3 254065 broad.mit.edu 37 X 79978134 79978134 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:79978134G>A ENST00000373275.4 - 17 2019 c.1803C>T c.(1801-1803)ttC>ttT p.F601F NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 601 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CCAACCGTTGGAATTTTGTGG 0.403000 19 2 0 0 0.012319 0 0 RAF1 5894 broad.mit.edu 37 3 12650363 12650363 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:12650363A>T ENST00000251849.4 - 5 922 c.483T>A c.(481-483)aaT>aaA p.N161K RAF1_ENST00000442415.2_Missense_Mutation_p.N161K|RAF1_ENST00000542177.1_Missense_Mutation_p.N80K|RAF1_ENST00000534997.1_5'UTR NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 161 activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ATCGAAATCCATTGAGCAGGA 0.418000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 15 20 0 0 0.004007 0 0 NEK8 284086 broad.mit.edu 37 17 27061949 27061949 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:27061949A>C ENST00000268766.6 + 3 447 c.413A>C c.(412-414)aAa>aCa p.K138T NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 138 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) CTGCTTGACAAACACCGCATG 0.552000 36 53 0 0 0.004289 0 0 SLC17A2 10246 broad.mit.edu 37 6 25915842 25915842 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:25915842G>A ENST00000377850.3 - 10 1620 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000265425.3_Silent_p.L366L O00624 NPT3_HUMAN solute carrier family 17, member 2 366 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 ACAAAGGGCAGGGCCACAGCA 0.478000 21 29 0 0 0.008871 0 0 USP32 84669 broad.mit.edu 37 17 58348781 58348781 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:58348781C>T ENST00000300896.4 - 6 827 c.633G>A c.(631-633)cgG>cgA p.R211R USP32_ENST00000393003.3_Silent_p.R211R NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 211 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATCGTCCAGTCCGGGATTGAG 0.388000 19 19 0 0 0.006122 0 0 OR52B4 143496 broad.mit.edu 37 11 4388697 4388697 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:4388697G>A ENST00000408920.2 - 1 919 c.829C>T c.(829-831)Ccg>Tcg p.P277S NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P277A(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TTAGCCAACGGGATGTGGATA 0.463000 19 33 0 0 0.012319 0 0 A2M 2 broad.mit.edu 37 12 9242531 9242531 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:9242531C>T ENST00000318602.7 - 21 2992 c.2685G>A c.(2683-2685)agG>agA p.R895R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 895 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CTGTGTCTTTCCTTCCGTGTT 0.373000 24 23 0 0 0.003954 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665012 6665012 + Silent SNP G G A rs143839697 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:6665012G>A ENST00000326176.9 - 5 921 c.540C>T c.(538-540)gtC>gtT p.V180V TNFSF14_ENST00000245912.3_Silent_p.V180V|TNFSF14_ENST00000599359.1_Silent_p.V216V NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 216 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.V216V(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GCACACGGACGACCACCTTCT 0.622000 25 29 0 0 0.003954 0 0 ANKH 56172 broad.mit.edu 37 5 14749296 14749296 + Silent SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:14749296A>G ENST00000284268.6 - 6 1137 c.807T>C c.(805-807)agT>agC p.S269S ANKH_ENST00000535119.1_Silent_p.S71S|ANKH_ENST00000503939.1_5'UTR NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 269 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TGGCTGCAGAACTGCCACCAA 0.547000 17 27 0 0 0.006122 0 0 IGSF10 285313 broad.mit.edu 37 3 151161648 151161648 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:151161648T>C ENST00000282466.3 - 5 5086 c.5087A>G c.(5086-5088)cAg>cGg p.Q1696R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1696 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGCTATTCTGTTTCCTCTT 0.413000 13 7 0 0 0.004007 0 0 FAM83G 644815 broad.mit.edu 37 17 18874834 18874834 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:18874834C>T ENST00000388995.6 - 6 2533 c.2310G>A c.(2308-2310)atG>atA p.M770I FAM83G_ENST00000345041.4_Missense_Mutation_p.M770I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.M770I|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 770 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TGCCATCGGTCATGGGGCGGG 0.652000 40 70 0 0 0.006999 0 0 DSC1 1823 broad.mit.edu 37 18 28722027 28722027 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:28722027C>T ENST00000257197.3 - 9 1456 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E399K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 399 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTCCATTTTCATTTCCTTGT 0.353000 19 36 0 0 0.008871 0 0 HEPHL1 341208 broad.mit.edu 37 11 93808340 93808340 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:93808340G>A ENST00000315765.9 + 9 1513 c.1504_splice c.e9-1 p.G502_splice NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 502 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATATCCTCAGGATTTGTGAAA 0.473000 8 12 0 0 0.004482 0 0 VWF 7450 broad.mit.edu 37 12 6161802 6161802 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:6161802C>T ENST00000261405.5 - 16 2347 c.2093G>A c.(2092-2094)aGg>aAg p.R698K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 698 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAGTCCCCCCTCTCATCCAT 0.582000 28 37 0 0 0.005443 0 0 METTL2A 339175 broad.mit.edu 37 17 60518079 60518079 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:60518079C>T ENST00000311506.5 + 6 807 c.771C>T c.(769-771)atC>atT p.I257I NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 257 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) TTGATATTATCATTCTCATAT 0.423000 32 65 0 0 0.012213 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367821 99367821 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:99367821G>A ENST00000336411.2 - 5 539 c.356C>T c.(355-357)tCt>tTt p.S119F CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 119 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTCAGCTATAGAGATGGCACT 0.403000 21 22 0 0 0.012319 0 0 TAS1R2 80834 broad.mit.edu 37 1 19183844 19183844 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:19183844G>A ENST00000375371.3 - 2 485 c.464C>T c.(463-465)tCc>tTc p.S155F RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 155 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GAGAAATAGGGAGAGGAAGTT 0.572000 8 21 0 0 0.008291 0 0 KRT26 353288 broad.mit.edu 37 17 38928361 38928361 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:38928361G>A ENST00000335552.4 - 1 53 c.5C>T c.(4-6)tCt>tTt p.S2F NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 2 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AAGTCGAAAAGACATGGTGGC 0.547000 32 24 0 0 0.009535 0 0 CSF1R 1436 broad.mit.edu 37 5 149440464 149440464 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:149440464C>T ENST00000286301.3 - 14 2221 c.1930G>A c.(1930-1932)Gag>Aag p.E644K CSF1R_ENST00000515239.1_5'UTR NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 644 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACGATGTTCTCGTGCTGGCCC 0.612000 7 13 0 0 0.006214 0 0 C17orf104 284071 broad.mit.edu 37 17 42745546 42745546 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:42745546T>C ENST00000409122.2 + 5 2409 c.2267T>C c.(2266-2268)aTt>aCt p.I756T C17orf104_ENST00000409464.1_Missense_Mutation_p.I590T|C17orf104_ENST00000359945.3_Missense_Mutation_p.I756T NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 756 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 GAACTTCATATTCGTCTAGAA 0.363000 12 19 0 0 0.002450 0 0 KCNH8 131096 broad.mit.edu 37 3 19575436 19575436 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:19575436C>T ENST00000328405.2 + 16 3435 c.3169C>T c.(3169-3171)Cag>Tag p.Q1057* NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 1057 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CAGCTTCAGTCAGGGAACTGT 0.483000 19 18 0 0 0.007413 0 0 NR1H4 9971 broad.mit.edu 37 12 100928704 100928704 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:100928704T>C ENST00000548884.1 + 6 1164 c.623T>C c.(622-624)cTg>cCg p.L208P NR1H4_ENST00000551379.1_Missense_Mutation_p.L222P|NR1H4_ENST00000549996.1_Missense_Mutation_p.L161P|NR1H4_ENST00000188403.7_Missense_Mutation_p.L218P|NR1H4_ENST00000392986.3_Missense_Mutation_p.L212P NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 222 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TCTAAGCGACTGAGAAAAAAT 0.418000 14 14 0 0 0.001855 0 0 MS4A5 64232 broad.mit.edu 37 11 60198338 60198338 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:60198338C>T ENST00000300190.2 + 2 309 c.223C>T c.(223-225)Cca>Tca p.P75S MS4A5_ENST00000534071.1_Intron NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 75 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 CTTGTTAAAACCATATCCAAG 0.378000 35 40 0 0 0.013726 0 0 RYR1 6261 broad.mit.edu 37 19 39017643 39017643 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:39017643A>T ENST00000355481.4 + 71 10753 c.10622A>T c.(10621-10623)gAt>gTt p.D3541V RYR1_ENST00000360985.3_Missense_Mutation_p.D3546V|RYR1_ENST00000359596.3_Missense_Mutation_p.D3546V|AC067969.1_ENST00000597015.1_RNA NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3546 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAAGACACAGATGAGGAGGTC 0.547000 17 30 0 0 0.007413 0 0 TMEM182 130827 broad.mit.edu 37 2 103378704 103378704 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:103378704G>A ENST00000412401.2 + 1 233 c.28G>A c.(28-30)Gga>Aga p.G10R TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 10 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TATCTTCTTTGGAGCTCTCTT 0.368000 14 11 0 0 0.001855 0 0 MYH2 4620 broad.mit.edu 37 17 10451235 10451235 + Translation_Start_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:10451235C>T ENST00000245503.5 - 3 387 c.3G>A c.(1-3)atG>atA p.M1I MYH2_ENST00000532183.1_Start_Codon_SNP_p.M1I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Start_Codon_SNP_p.M1I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGTCTGAACTCATGGCTGCTG 0.433000 15 13 0 0 0.003163 0 0 HCN1 348980 broad.mit.edu 37 5 45262699 45262699 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:45262699G>A ENST00000303230.4 - 8 2054 c.1997C>T c.(1996-1998)cCg>cTg p.P666L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 666 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGTGTACACCGGTGGAGATTG 0.577000 22 26 0 0 0.014323 0 0 CSMD2 114784 broad.mit.edu 37 1 34006186 34006186 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:34006186C>T ENST00000373381.4 - 60 9746 c.9570G>A c.(9568-9570)ctG>ctA p.L3190L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3166 Sushi 26. 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) ACACCGCGGGCAGGGAGAGCT 0.582000 30 33 0 0 0.009535 0 0 HSPA12B 116835 broad.mit.edu 37 20 3722942 3722942 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:3722942C>T ENST00000254963.2 + 4 298 c.153C>T c.(151-153)gtC>gtT p.V51V HSPA12B_ENST00000542646.1_Intron NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 51 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 AACCCGAGGTCCGAGCCCCCC 0.592000 19 16 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179634897 179634897 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179634897G>A ENST00000589042.1 - 36 8755 c.8531C>T c.(8530-8532)tCa>tTa p.S2844L TTN_ENST00000591111.1_Missense_Mutation_p.S2844L|TTN_ENST00000460472.2_Missense_Mutation_p.S2798L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2798L|TTN_ENST00000360870.5_Missense_Mutation_p.S2844L|TTN_ENST00000359218.5_Missense_Mutation_p.S2798L|TTN_ENST00000342992.6_Missense_Mutation_p.S2844L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2582 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCTTTCTGAGACCAGTCT 0.458000 49 58 0 0 0.014410 0 0 KDR 3791 broad.mit.edu 37 4 55973926 55973926 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:55973926C>T ENST00000263923.4 - 10 1685 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 464 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCGCACTCTTCCTCCAACTGC 0.517000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 25 39 0 0 0.007291 0 0 MYH6 4624 broad.mit.edu 37 14 23851771 23851771 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:23851771C>T ENST00000405093.3 - 38 5732 c.5661_splice c.e38-1 p.E1888_splice MYH6_ENST00000356287.3_Splice_Site_p.E1888_splice NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1888 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCTTGCTCCTCCTGTGGTGGG 0.597000 23 34 0 0 0.004656 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95705405 95705405 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:95705405G>A ENST00000324972.6 + 15 1790 c.1597G>A c.(1597-1599)Gac>Aac p.D533N DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D516N|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D496N|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D513N|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D496N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D516N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 533 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AGACAATGCAGACTATGTGTA 0.557000 OREG0018174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 46 0 0 0.014410 0 0 MLST8 64223 broad.mit.edu 37 16 2257060 2257060 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:2257060G>A ENST00000569417.1 + 5 723 c.369G>A c.(367-369)cgG>cgA p.R123R MLST8_ENST00000382450.4_Silent_p.R122R|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Silent_p.R123R|MLST8_ENST00000301725.7_Silent_p.R142R|MLST8_ENST00000565250.1_Silent_p.R123R|MLST8_ENST00000301724.10_Silent_p.R123R|MLST8_ENST00000564088.1_Silent_p.R123R NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 123 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 AGTGCCAGCGGATCTTCCAGG 0.667000 30 37 0 0 0.013726 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987028 7987028 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:7987028G>A ENST00000221573.6 + 4 532 c.481G>A c.(481-483)Gaa>Aaa p.E161K SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 161 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TGGAGGACAGGAAGACCCCGC 0.662000 32 31 0 0 0.012213 0 0 RWDD1 51389 broad.mit.edu 37 6 116910006 116910006 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:116910006C>T ENST00000466444.2 + 4 488 c.270_splice c.e4-1 p.A91_splice RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000392526.1_5'UTR NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 91 RWD. protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) GTTACACAGGCTGAAGAAAAT 0.289000 11 5 0 0 0.001855 0 0 WDR72 256764 broad.mit.edu 37 15 54007449 54007449 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:54007449G>A ENST00000396328.1 - 5 694 c.455C>T c.(454-456)tCa>tTa p.S152L WDR72_ENST00000557913.1_Missense_Mutation_p.S152L|WDR72_ENST00000360509.5_Missense_Mutation_p.S152L|WDR72_ENST00000559418.1_Missense_Mutation_p.S152L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 152 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAACTGAGATGATCTAAAACT 0.393000 10 21 0 0 0.006214 0 0 EVPLL 645027 broad.mit.edu 37 17 18284834 18284834 + Splice_Site SNP G G A rs112860829 by1000genomes TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:18284834G>A ENST00000399134.4 + 3 575 c.218_splice c.e3+1 p.D73_splice RP1-37N7.1_ENST00000579352.1_RNA NM_001145127.1 NP_001138599.1 A8MZ36 EVPLL_HUMAN envoplakin-like 73 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GACTGAGAAGGAGTGAGTGGG 0.667000 10 19 0 0 0.001855 0 0 OR52K2 119774 broad.mit.edu 37 11 4471397 4471397 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:4471397C>T ENST00000325719.4 + 1 873 c.828C>T c.(826-828)atC>atT p.I276I NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTCCACATCCTCCTTGCCA 0.498000 39 57 0 0 0.006999 0 0 TENM1 10178 broad.mit.edu 37 X 123654524 123654524 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:123654524C>T ENST00000422452.2 - 18 3207 c.3144G>A c.(3142-3144)acG>acA p.T1048T TENM1_ENST00000371130.3_Silent_p.T1048T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTACAGGAATCGTTGAATGTG 0.493000 39 2 0 0 0.013114 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354506 42354506 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:42354506G>A ENST00000596827.1 + 7 968 c.882G>A c.(880-882)agG>agA p.R294R DMRTC2_ENST00000269945.3_Intron Q8IXT2 DMRTD_HUMAN DMRT-like family C2 275 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 GAAAAAGCAGGAAACTGAAGG 0.597000 30 26 0 0 0.006320 0 0 TENM4 26011 broad.mit.edu 37 11 78433784 78433784 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:78433784G>A ENST00000278550.7 - 24 4191 c.3729C>T c.(3727-3729)ctC>ctT p.L1243L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CACCCACATAGAGGCTCCCGT 0.547000 38 31 0 0 0.004878 0 0 PEX6 5190 broad.mit.edu 37 6 42942632 42942632 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:42942632G>A ENST00000304611.8 - 2 1096 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W PEX6_ENST00000244546.4_Missense_Mutation_p.R343W NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 343 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TGAAAGTGCCGGTAAAGAACA 0.463000 87 71 0 0 0.014410 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131665 142131665 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:142131665C>T ENST00000390375.2 - 0 130 TCGTTTTGATCAGGTGTGTGG 0.572000 25 26 0 0 0.003954 0 0 MDC1 9656 broad.mit.edu 37 6 30671832 30671832 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:30671832T>A ENST00000376406.3 - 10 5775 c.5128A>T c.(5128-5130)Att>Ttt p.I1710F MDC1_ENST00000376405.2_Missense_Mutation_p.I1446F|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1710 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCAGGGGAAATAGGCTGGTCT 0.547000 Other conserved DNA damage response genes 59 73 0 0 0.014410 0 0 ESRRG 2104 broad.mit.edu 37 1 216850545 216850545 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:216850545C>T ENST00000391890.3 - 4 793 c.276G>A c.(274-276)aaG>aaA p.K92K ESRRG_ENST00000361525.3_Silent_p.K92K|ESRRG_ENST00000360012.3_Silent_p.K92K|ESRRG_ENST00000359162.2_Silent_p.K92K|ESRRG_ENST00000493748.1_Silent_p.K92K|ESRRG_ENST00000408911.3_Silent_p.K115K|ESRRG_ENST00000493603.1_Silent_p.K92K|ESRRG_ENST00000366937.1_Silent_p.K120K|ESRRG_ENST00000361395.2_Silent_p.K92K|ESRRG_ENST00000487276.1_Silent_p.K92K|ESRRG_ENST00000366938.2_Silent_p.K92K|ESRRG_ENST00000463665.1_Silent_p.K92K|ESRRG_ENST00000366940.2_Silent_p.K92K NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 115 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGTATTCACACTTGGTCTGGG 0.512000 122 48 0 0 0.014410 0 0 WDR3 10885 broad.mit.edu 37 1 118483757 118483757 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:118483757C>T ENST00000349139.4 + 8 847 c.800C>T c.(799-801)tCa>tTa p.S267L WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 267 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CGAATCCTTTCATGCAGAAAA 0.418000 20 19 0 0 0.014323 0 0 SLC16A3 9123 broad.mit.edu 37 17 80195474 80195474 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:80195474C>T ENST00000581287.1 + 3 3150 c.828C>T c.(826-828)ttC>ttT p.F276F SLC16A3_ENST00000582743.1_Silent_p.F276F|SLC16A3_ENST00000392341.1_Silent_p.F276F|SLC16A3_ENST00000392339.1_Silent_p.F276F NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 276 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TTGACATCTTCGCGCGGCCGG 0.662000 50 51 0 0 0.014410 0 0 CCDC42 146849 broad.mit.edu 37 17 8638462 8638462 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:8638462C>T ENST00000293845.3 - 6 1051 c.825G>A c.(823-825)aaG>aaA p.K275K CCDC42_ENST00000539522.2_Silent_p.K201K NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 275 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 CAGTCACCTCCTTCAGGTGCT 0.627000 12 15 0 0 0.001855 0 0 IGHV2-70 28454 broad.mit.edu 37 14 107179121 107179121 + RNA SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:107179121G>A ENST00000390634.2 - 0 131 GGTGACCTGGGATAAGACCCC 0.512000 18 27 0 0 0.004990 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420886 55420886 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:55420886C>T ENST00000242994.3 + 2 1041 c.663C>T c.(661-663)ctC>ctT p.L221L NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 221 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 AAACACATCTCCTTCATCTCA 0.493000 24 29 0 0 0.014323 0 0 LRRC16B 90668 broad.mit.edu 37 14 24533496 24533496 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:24533496C>T ENST00000342740.5 + 32 3175 c.3021C>T c.(3019-3021)acC>acT p.T1007T LRRC16B_ENST00000334420.7_Silent_p.T103T NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1007 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGATGGCCACCCGCCTGGATG 0.577000 10 5 0 0 0.008291 0 0 C7orf60 154743 broad.mit.edu 37 7 112535637 112535637 + Nonsense_Mutation SNP C C A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:112535637C>A ENST00000297145.4 - 3 625 c.460G>T c.(460-462)Gaa>Taa p.E154* C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 154 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GTTATAAATTCAGGGTTTGTA 0.353000 34 61 6.19805e-25 7.09261e-25 0.005524 1 0 PALM 5064 broad.mit.edu 37 19 736044 736044 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:736044G>A ENST00000264560.7 + 7 662 c.468G>A c.(466-468)ctG>ctA p.L156L PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.L156L NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 156 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) ACACGCCCCTGAGGACGGTTG 0.652000 50 60 0 0 0.014410 0 0 DNM2 1785 broad.mit.edu 37 19 10940944 10940944 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:10940944C>T ENST00000314646.5 + 20 2597 c.2433C>T c.(2431-2433)tcC>tcT p.S811S DNM2_ENST00000585892.1_Silent_p.S811S|DNM2_ENST00000408974.4_Silent_p.S807S|DNM2_ENST00000389253.4_Silent_p.S811S|DNM2_ENST00000359692.6_Silent_p.S807S|DNM2_ENST00000355667.6_Silent_p.S811S P50570 DYN2_HUMAN dynamin 2 811 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CAATCCCATCCCGGCCTGGAC 0.697000 """F, N, Splice, Mis, O""" ETP ALL 32 50 0 0 0.006230 0 0 DGKK 139189 broad.mit.edu 37 X 50119860 50119860 + RNA SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:50119860G>A ENST00000376025.2 - 0 3227 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGGGGTTGAGGGGCAGCTTGA 0.478000 10 0 0 0 0.006214 0 0 SH2D7 646892 broad.mit.edu 37 15 78390855 78390855 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:78390855C>T ENST00000328828.5 + 4 562 c.562C>T c.(562-564)Cca>Tca p.P188S SH2D7_ENST00000409568.2_Missense_Mutation_p.P52S NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 188 endometrium(2)|kidney(2)|lung(3) 7 CCGCTCTTCTCCAAAGCCCCA 0.622000 17 22 0 0 0.004990 0 0 ANK3 288 broad.mit.edu 37 10 61868637 61868637 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:61868637A>C ENST00000280772.1 - 27 3315 c.3124T>G c.(3124-3126)Tta>Gta p.L1042V ANK3_ENST00000373827.2_Missense_Mutation_p.L1036V|ANK3_ENST00000503366.1_Missense_Mutation_p.L1043V|ANK3_ENST00000355288.2_Missense_Mutation_p.L176V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1042 ZU5. MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834). establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTACTGGCTAATCCCTCTCCT 0.498000 42 33 0 0 0.014410 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355126 33355126 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:33355126G>A ENST00000023064.4 - 4 545 c.354C>T c.(352-354)atC>atT p.I118I SLC7A9_ENST00000587772.1_Silent_p.I118I|SLC7A9_ENST00000590341.1_Silent_p.I118I NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 118 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCTTAATGACGATCAGGCTGG 0.572000 14 16 0 0 0.004007 0 0 PLXDC2 84898 broad.mit.edu 37 10 20568655 20568655 + Silent SNP G G A rs147255630 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:20568655G>A ENST00000377252.3 + 14 2338 c.1497G>A c.(1495-1497)gcG>gcA p.A499A PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.A450A NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 499 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 GATGGCCTGCGATGAAGTTTA 0.413000 19 23 0 0 0.010504 0 0 NR5A2 2494 broad.mit.edu 37 1 200090082 200090082 + Splice_Site SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:200090082A>C ENST00000367362.3 + 7 1623 c.1378_splice c.e7+1 p.L459_splice NR5A2_ENST00000544748.1_Splice_Site_p.L387_splice|NR5A2_ENST00000236914.3_Splice_Site_p.L413_splice NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 459 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TCTTTAGTTTAGGTAAGAAAT 0.383000 67 25 0 0 0.014410 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749712 139749712 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:139749712C>T ENST00000445819.1 + 11 1254 c.1204C>T c.(1204-1206)Ctg>Ttg p.L402L MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L402L Q6UXC1 AEGP_HUMAN MAM domain containing 4 402 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCAGATCCTCCTGGCCGGGCA 0.677000 15 18 0 0 0.003163 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101774466 101774466 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:101774466C>T ENST00000506729.1 - 7 1303 c.e7-1 SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Splice_Site|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Splice_Site|SLCO6A1_ENST00000379807.3_Splice_Site Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TCATCAGAATCTGaaataaaa 0.279000 5 14 0 0 0.000602 0 0 YTHDF1 54915 broad.mit.edu 37 20 61833879 61833879 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:61833879C>T ENST00000370339.3 - 4 1754 c.1413G>A c.(1411-1413)aaG>aaA p.K471K YTHDF1_ENST00000370333.4_Silent_p.K421K|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 471 YTH. NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CAAACTTCCCCTTCCACTTGT 0.532000 21 38 0 0 0.008871 0 0 NLRP3 114548 broad.mit.edu 37 1 247582213 247582213 + Silent SNP C C T rs145314485 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:247582213C>T ENST00000366497.2 + 2 897 c.117C>T c.(115-117)atC>atT p.I39I NLRP3_ENST00000348069.2_Silent_p.I39I|NLRP3_ENST00000391828.3_Silent_p.I39I|NLRP3_ENST00000366496.2_Silent_p.I39I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.I39I|NLRP3_ENST00000336119.3_Silent_p.I39I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 39 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGGCTGCATCCCCCTCCCGA 0.572000 36 12 0 0 0.003755 0 0 SI 6476 broad.mit.edu 37 3 164764781 164764781 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:164764781G>A ENST00000264382.3 - 16 1797 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 579 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTCTTATTAGGAAAAACTTTT 0.303000 HNSCC(35;0.089) 5 11 0 0 0.000602 0 0 USE1 55850 broad.mit.edu 37 19 17327013 17327013 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:17327013C>T ENST00000595101.1 + 4 285 c.267C>T c.(265-267)ttC>ttT p.F89F USE1_ENST00000379776.4_Silent_p.F89F|USE1_ENST00000263897.5_Silent_p.F89F|USE1_ENST00000596136.1_Silent_p.F89F|USE1_ENST00000445667.2_Silent_p.F89F Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) 89 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 CCAACCAGTTCCTGGCCCCTG 0.612000 15 26 0 0 0.006122 0 0 C1orf110 339512 broad.mit.edu 37 1 162829271 162829271 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:162829271C>T ENST00000367912.1 - 2 340 c.166G>A c.(166-168)Gaa>Aaa p.E56K C1orf110_ENST00000367910.1_Missense_Mutation_p.E56K|C1orf110_ENST00000367911.2_Missense_Mutation_p.E52K Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 56 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 CTCTGCAGTTCTTTTTGGAGC 0.552000 5 32 0 0 0.000602 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417693 25417693 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:25417693C>T ENST00000549301.1 + 0 471 SNHG14_ENST00000553149.1_RNA GCTCAGCCCTCCCTGGCACTC 0.627000 7 15 0 0 0.001984 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458313 42458313 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:42458313G>A ENST00000262407.5 - 13 1358 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S ITGA2B_ENST00000377068.3_Missense_Mutation_p.P128S|ITGA2B_ENST00000353281.4_Missense_Mutation_p.P443S NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 443 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GAGCCTGTGGGGAAGGGGCTG 0.637000 30 41 0 0 0.009535 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106108821 106108821 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:106108821C>T ENST00000357242.5 + 15 2559 c.2385C>T c.(2383-2385)agC>agT p.S795S TBC1D8B_ENST00000276175.3_Silent_p.S789S NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 795 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGAAATTGAGCCTTCAAGAAT 0.289000 17 1 0 0 0.012319 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997240 146997240 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:146997240G>A ENST00000361727.3 + 9 1872 c.1356G>A c.(1354-1356)ggG>ggA p.G452G NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 452 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGGTTCTGGGTTGAATGATG 0.368000 HNSCC(39;0.1) 21 28 0 0 0.014323 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656543 40656543 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:40656543C>T ENST00000406785.1 - 2 1067 c.878G>A c.(877-879)gGg>gAg p.G293E SLC8A1_ENST00000542756.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G293E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G293E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G293E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G293E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G293E P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 293 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GACCACTTTCCCGTCCATTTC 0.443000 54 66 0 0 0.014410 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 14 23 0 0 0.004990 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525074 150525074 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:150525074G>A ENST00000271643.4 + 4 312 c.76G>A c.(76-78)Gag>Aag p.E26K ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E26K|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E26K|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E26K NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 26 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTGGATCAGGAGGTGAGTTC 0.622000 33 7 0 0 0.004289 0 0 LPO 4025 broad.mit.edu 37 17 56321382 56321382 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:56321382C>T ENST00000262290.4 + 3 420 c.104C>T c.(103-105)tCc>tTc p.S35F LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 35 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCTGCCATCTCCGATACTGTG 0.542000 18 17 0 0 0.003330 0 0 CPT1C 126129 broad.mit.edu 37 19 50200633 50200633 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:50200633C>T ENST00000392518.4 + 4 564 c.192C>T c.(190-192)ttC>ttT p.F64F CPT1C_ENST00000405931.2_Silent_p.F64F|CPT1C_ENST00000323446.5_Silent_p.F64F|CPT1C_ENST00000354199.5_Silent_p.F64F|CPT1C_ENST00000598293.1_Silent_p.F64F NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 64 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GTTGGCTTTTCCTCTTCAGTG 0.547000 23 27 0 0 0.012319 0 0 NLRP2 55655 broad.mit.edu 37 19 55495074 55495074 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:55495074G>A ENST00000543010.1 + 6 2151 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K NLRP2_ENST00000448584.2_Missense_Mutation_p.E670K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E667K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E648K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E647K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E646K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E648K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E646K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 670 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACTGCGTCTGAATCAGACGC 0.517000 22 29 0 0 0.004656 0 0 RP1 6101 broad.mit.edu 37 8 55534033 55534033 + Silent SNP G G C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:55534033G>C ENST00000220676.1 + 2 655 c.507G>C c.(505-507)gcG>gcC p.A169A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 169 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGAGGCGTGCGGTTCTTCTGA 0.647000 48 65 0 0 0.014410 0 0 FAM83B 222584 broad.mit.edu 37 6 54735174 54735174 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:54735174C>T ENST00000306858.7 + 2 246 c.130C>T c.(130-132)Caa>Taa p.Q44* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 44 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGAAGCATACCAAGAATTTCT 0.378000 23 75 0 0 0.014323 0 0 ARAP3 64411 broad.mit.edu 37 5 141041668 141041668 + Silent SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:141041668A>C ENST00000239440.4 - 20 3020 c.2955T>G c.(2953-2955)cgT>cgG p.R985R ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Silent_p.R647R NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 985 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CATCGAGCTCACGAAAGAAGC 0.592000 32 41 0 0 0.012213 0 0 FAM73A 374986 broad.mit.edu 37 1 78309059 78309059 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:78309059C>T ENST00000370791.3 + 8 995 c.963C>T c.(961-963)atC>atT p.I321I FAM73A_ENST00000443751.2_Silent_p.I283I NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 321 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) CCTTGAGCATCGCATCCACGG 0.413000 17 27 0 0 0.007413 0 0 CHD1 1105 broad.mit.edu 37 5 98229217 98229217 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:98229217C>T ENST00000284049.3 - 13 2043 c.1894G>A c.(1894-1896)Gat>Aat p.D632N NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 632 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GATTTAAAATCTATTAAAGTT 0.368000 21 51 0 0 0.010504 0 0 CATSPERB 79820 broad.mit.edu 37 14 92150271 92150271 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:92150271C>T ENST00000256343.3 - 11 1037 c.881G>A c.(880-882)gGa>gAa p.G294E NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 294 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CCACAGTTTTCCTTTCACATA 0.254000 31 29 0 0 0.013726 0 0 TC2N 123036 broad.mit.edu 37 14 92268712 92268712 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:92268712G>A ENST00000435962.2 - 4 678 c.355C>T c.(355-357)Cag>Tag p.Q119* TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q119* NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 119 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GGTCCGTGCTGGGATGAACTG 0.418000 13 26 0 0 0.003163 0 0 C12orf54 121273 broad.mit.edu 37 12 48888715 48888715 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:48888715G>A ENST00000314014.2 + 8 508 c.377G>A c.(376-378)gGa>gAa p.G126E RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.G126E NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 126 endometrium(1)|large_intestine(4) 5 TACTACCCTGGACCCTAACTC 0.517000 25 20 0 0 0.007291 0 0 SGSM1 129049 broad.mit.edu 37 22 25313627 25313627 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:25313627C>T ENST00000400358.4 + 23 2988 c.2931C>T c.(2929-2931)atC>atT p.I977I SGSM1_ENST00000400359.4_Silent_p.I1032I NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 1032 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTTGACAGATCCTGGACTCAG 0.507000 14 12 0 0 0.001855 0 0 OR4K1 79544 broad.mit.edu 37 14 20404458 20404458 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:20404458C>T ENST00000285600.4 + 1 692 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGAGCTGTTTCCTGGCTTTAA 0.438000 13 45 0 0 0.001855 0 0 ABCE1 6059 broad.mit.edu 37 4 146044172 146044172 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:146044172G>A ENST00000296577.4 + 14 1778 c.e14-1 OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Splice_Site NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) ATTAAAAACAGGGAAGTGTTC 0.303000 8 9 0 0 0.003080 0 0 DCAF6 55827 broad.mit.edu 37 1 168007709 168007709 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:168007709G>A ENST00000367840.3 + 13 1804 c.1710G>A c.(1708-1710)ctG>ctA p.L570L DCAF6_ENST00000367843.3_Silent_p.L513L|DCAF6_ENST00000312263.6_Silent_p.L493L|DCAF6_ENST00000432587.2_Silent_p.L539L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 535 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CAATAAAACTGAACTTTACAG 0.328000 46 23 0 0 0.013114 0 0 MUC6 4588 broad.mit.edu 37 11 1017355 1017355 + Missense_Mutation SNP T T G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:1017355T>G ENST00000421673.2 - 31 5496 c.5446A>C c.(5446-5448)Act>Cct p.T1816P NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1816 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGTTGCAGTGACAGGACCT 0.587000 65 547 0 0 0.014410 0 0 AGTR1 185 broad.mit.edu 37 3 148459199 148459199 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:148459199G>A ENST00000542281.1 + 4 823 c.377G>A c.(376-378)cGa>cAa p.R126Q AGTR1_ENST00000404754.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000349243.3_Missense_Mutation_p.R126Q|AGTR1_ENST00000402260.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000474935.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000497524.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000461609.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000418473.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000475347.1_Missense_Mutation_p.R126Q NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 126 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AGCATTGATCGATACCTGGCT 0.507000 39 57 0 0 0.006999 0 0 BLK 640 broad.mit.edu 37 8 11418875 11418875 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:11418875A>G ENST00000259089.4 + 11 1686 c.1094A>G c.(1093-1095)aAc>aGc p.N365S BLK_ENST00000529894.1_Missense_Mutation_p.N294S NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 365 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CGGGCGGCCAACATCCTGGTG 0.557000 6 10 0 0 0.001168 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123163155 123163155 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:123163155G>A ENST00000349780.4 - 35 5495 c.5316C>T c.(5314-5316)caC>caT p.H1772H CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Silent_p.H1740H|CDK5RAP2_ENST00000359309.3_Silent_p.H1731H|CDK5RAP2_ENST00000360190.4_Silent_p.H1693H NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1772 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GTGGTGCTGGGTGTGGACCCT 0.512000 11 20 0 0 0.013537 0 0 CHCHD7 79145 broad.mit.edu 37 8 57129894 57129894 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:57129894C>T ENST00000523975.1 + 5 342 c.194C>T c.(193-195)tCt>tTt p.S65F CHCHD7_ENST00000355315.3_Missense_Mutation_p.S53F|CHCHD7_ENST00000396723.5_Missense_Mutation_p.S62F|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523061.1_Silent_p.L45L|CHCHD7_ENST00000303759.3_Missense_Mutation_p.S78F Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 53 CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) ACACAGAATTCTATCGTGATG 0.368000 T PLAG1 salivary adenoma 7 12 0 0 0.001984 0 0 CNTN3 5067 broad.mit.edu 37 3 74350817 74350817 + Silent SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:74350817A>G ENST00000263665.6 - 14 1953 c.1926T>C c.(1924-1926)ggT>ggC p.G642G NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 642 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CGGTTTGCCAACCCACGGAGA 0.458000 16 22 0 0 0.006122 0 0 OC90 729330 broad.mit.edu 37 8 133044159 133044159 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:133044159C>T ENST00000262283.5 - 16 1735 c.1636G>A c.(1636-1638)Gga>Aga p.G546R OC90_ENST00000443356.2_Missense_Mutation_p.G350R|OC90_ENST00000254627.3_Missense_Mutation_p.G334R|OC90_ENST00000603859.1_Missense_Mutation_p.G334R Q02509 OC90_HUMAN otoconin 90 350 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TCGCCTCTTCCTTCTTGTCCA 0.542000 26 23 0 0 0.005443 0 0 FGB 2244 broad.mit.edu 37 4 155486985 155486985 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:155486985G>A ENST00000302068.4 + 2 203 c.140G>A c.(139-141)cGa>cAa p.R47Q FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 47 Beta-chain polymerization, binding distal domain of another fibrin. Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CGTGGTCATCGACCCCTTGAC 0.522000 15 15 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13901523 13901523 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:13901523G>A ENST00000265104.4 - 14 1994 c.1890C>T c.(1888-1890)gcC>gcT p.A630A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 630 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGCTGGCGGGCCCACAAAA 0.502000 Kartagener syndrome 12 9 0 0 0.001855 0 0 ZNF101 94039 broad.mit.edu 37 19 19788777 19788777 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:19788777C>T ENST00000592502.1 + 2 218 c.108C>T c.(106-108)acC>acT p.T36T ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_Silent_p.T36T Q8IZC7 ZN101_HUMAN zinc finger protein 101 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 CGCTGGAAACCTTCAGGAACC 0.498000 17 31 0 0 0.004990 0 0 POM121L12 285877 broad.mit.edu 37 7 53103700 53103700 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:53103700C>T ENST00000408890.4 + 1 352 c.336C>T c.(334-336)ctC>ctT p.L112L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 112 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGCGAGACCTCTCCTGTGCCT 0.721000 15 13 0 0 0.004007 0 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T C rs121913240 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:25380276T>C ENST00000311936.3 - 3 373 c.182A>G c.(181-183)cAa>cGa p.Q61R KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61L(73)|p.Q61R(56)|p.Q61P(12) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 12 0 0 0.010729 0 0 LRP6 4040 broad.mit.edu 37 12 12318150 12318150 + Missense_Mutation SNP C C T rs139800650 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:12318150C>T ENST00000261349.4 - 8 1701 c.1625G>A c.(1624-1626)gGt>gAt p.G542D LRP6_ENST00000543091.1_Missense_Mutation_p.G542D NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 542 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AACATAGTCACCCAACAAAGT 0.423000 161 217 0 0 0.014410 0 0 ISM1 140862 broad.mit.edu 37 20 13260312 13260312 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:13260312C>T ENST00000262487.3 + 3 416 c.410C>T c.(409-411)tCt>tTt p.S137F TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 137 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GGTCCTGACTCTGAAGCAGAT 0.577000 10 10 0 0 0.006214 0 0 PAPPA 5069 broad.mit.edu 37 9 118997498 118997498 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:118997498C>T ENST00000328252.3 + 7 2683 c.2314C>T c.(2314-2316)Cct>Tct p.P772S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 772 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACACGGTTCCTCCAGCCTG 0.562000 27 27 0 0 0.003954 0 0 CLDN2 9075 broad.mit.edu 37 X 106171614 106171614 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:106171614G>A ENST00000541806.1 + 2 675 c.156G>A c.(154-156)atG>atA p.M52I CLDN2_ENST00000336803.1_Missense_Mutation_p.M52I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M52I NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 52 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GCCTCTGGATGGAATGTGCCA 0.572000 36 3 0 0 0.005524 0 0 COL4A2 1284 broad.mit.edu 37 13 111164316 111164316 + Silent SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:111164316A>C ENST00000360467.5 + 48 5223 c.4917A>C c.(4915-4917)tcA>tcC p.S1639S NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1639 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GTGGCCAATCACTGGTGTCAC 0.632000 32 19 0 0 0.004289 0 0 EYA2 2139 broad.mit.edu 37 20 45702837 45702837 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:45702837C>T ENST00000327619.5 + 7 898 c.524C>T c.(523-525)cCc>cTc p.P175L EYA2_ENST00000357410.3_Missense_Mutation_p.P175L|EYA2_ENST00000317304.6_Missense_Mutation_p.P175L NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 175 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) AGCCAGTACCCCCAGTATTAC 0.592000 37 29 0 0 0.009718 0 0 P2RY10 27334 broad.mit.edu 37 X 78216809 78216809 + Silent SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:78216809T>A ENST00000171757.2 + 4 1072 c.792T>A c.(790-792)atT>atA p.I264I P2RY10_ENST00000544091.1_Silent_p.I264I NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 264 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.I264M(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TTAACTTTATTTTTTACACCA 0.453000 53 1 0 0 0.014410 0 0 RORB 6096 broad.mit.edu 37 9 77286797 77286797 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:77286797G>A ENST00000376896.2 + 9 1816 c.1204G>A c.(1204-1206)Gat>Aat p.D402N RORB_ENST00000396204.2_Missense_Mutation_p.D413N NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 413 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GAATCACCTGGATGATGAGAC 0.433000 11 13 0 0 0.010729 0 0 OR6B3 150681 broad.mit.edu 37 2 240984890 240984890 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:240984890G>A ENST00000319423.4 - 1 599 c.600C>T c.(598-600)ttC>ttT p.F200F NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AGGCCAGAATGAAATCCACCA 0.572000 10 16 0 0 0.006214 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514633 51514633 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:51514633C>T ENST00000396402.1 - 5 694 c.541G>A c.(541-543)Gaa>Aaa p.E181K CYP19A1_ENST00000396404.4_Missense_Mutation_p.E181K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E181K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E181K|CYP19A1_ENST00000557858.1_Missense_Mutation_p.E181K|CYP19A1_ENST00000405913.3_Missense_Mutation_p.E181K|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 181 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TAGCCCGATTCATTGGTCACC 0.522000 16 20 0 0 0.004007 0 0 SYT1 6857 broad.mit.edu 37 12 79689912 79689912 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:79689912C>T ENST00000261205.4 + 7 1195 c.538C>T c.(538-540)Cct>Tct p.P180S SYT1_ENST00000552744.1_Missense_Mutation_p.P180S|SYT1_ENST00000393240.3_Missense_Mutation_p.P180S|SYT1_ENST00000457153.2_Missense_Mutation_p.P177S NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 180 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.P180S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CACATCTGATCCTTACGTGAA 0.423000 27 23 0 0 0.012213 0 0 SACS 26278 broad.mit.edu 37 13 23909019 23909019 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:23909019G>A ENST00000382298.3 - 10 9584 c.8996C>T c.(8995-8997)cCa>cTa p.P2999L SACS_ENST00000402364.1_Missense_Mutation_p.P2249L|SACS_ENST00000382292.3_Missense_Mutation_p.P2999L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2999 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATCAATATTTGGAGCCCGCAC 0.363000 50 26 0 0 0.014410 0 0 USP6 9098 broad.mit.edu 37 17 5058874 5058874 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:5058874A>C ENST00000574788.1 + 31 5031 c.2801A>C c.(2800-2802)cAg>cCg p.Q934P USP6_ENST00000250066.6_Missense_Mutation_p.Q934P|USP6_ENST00000304328.5_Missense_Mutation_p.Q617P|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 934 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTCCCACCTCAGGAAGCTAGT 0.428000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 27 27 0 0 0.006320 0 0 TRHDE 29953 broad.mit.edu 37 12 73012696 73012696 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:73012696C>T ENST00000261180.4 + 13 2308 c.2212C>T c.(2212-2214)Cct>Tct p.P738S TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 738 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCAGAATATTCCTCTGGAGAT 0.393000 20 21 0 0 0.002780 0 0 OR1L4 254973 broad.mit.edu 37 9 125486832 125486832 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:125486832C>T ENST00000259466.1 + 1 564 c.564C>T c.(562-564)ctC>ctT p.L188L NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TGCTAAAGCTCTCCTGCTCTG 0.498000 54 114 0 0 0.014410 0 0 GABRA6 2559 broad.mit.edu 37 5 161116303 161116303 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:161116303C>T ENST00000523217.1 + 5 702 c.460C>T c.(460-462)Cct>Tct p.P154S GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 164 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTTAACTTTCCTATGGATGG 0.388000 TCGA Ovarian(5;0.080) 19 29 0 0 0.014323 0 0 SATB1 6304 broad.mit.edu 37 3 18393686 18393686 + Splice_Site SNP C C G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:18393686C>G ENST00000338745.6 - 10 3311 c.1575_splice c.e10-1 p.G526_splice TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Splice_Site_p.G526_splice|SATB1_ENST00000454909.2_Splice_Site_p.G526_splice NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 526 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCACAACCATCCCTTAGAGAC 0.453000 13 16 0 0 0.013537 0 0 OR6C75 390323 broad.mit.edu 37 12 55759573 55759573 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:55759573C>T ENST00000343399.3 + 1 679 c.679C>T c.(679-681)Cct>Tct p.P227S NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TCTGAAAATTCCTTCTATGAG 0.383000 23 25 0 0 0.014323 0 0 CMTM5 116173 broad.mit.edu 37 14 23847703 23847703 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:23847703C>T ENST00000359320.3 + 2 716 c.272C>T c.(271-273)cCc>cTc p.P91L CMTM5_ENST00000339180.4_Missense_Mutation_p.P91L|CMTM5_ENST00000382809.2_Missense_Mutation_p.P91L|CMTM5_ENST00000555731.1_Missense_Mutation_p.P53L|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 91 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) ATTAACTGGCCCTGTCTGGTG 0.552000 45 46 0 0 0.014410 0 0 PLCB3 5331 broad.mit.edu 37 11 64026180 64026180 + Silent SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:64026180G>T ENST00000540288.1 + 11 1351 c.1248G>T c.(1246-1248)gtG>gtT p.V416V PLCB3_ENST00000325234.5_Silent_p.V349V|PLCB3_ENST00000279230.6_Silent_p.V416V NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 416 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 AGAACCATGTGGACTCGTGAG 0.612000 27 33 1.39806e-14 1.59368e-14 0.008361 1 0 CNTN5 53942 broad.mit.edu 37 11 100211914 100211914 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:100211914G>A ENST00000524871.1 + 23 3297 c.3007G>A c.(3007-3009)Gaa>Aaa p.E1003K CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1003 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATTAGCCAACGAATCTGAAGT 0.433000 33 49 0 0 0.003271 0 0 PTCH1 5727 broad.mit.edu 37 9 98209210 98209210 + Missense_Mutation SNP C C A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:98209210C>A ENST00000430669.2 - 23 4715 c.4130G>T c.(4129-4131)gGa>gTa p.G1377V PTCH1_ENST00000421141.1_Missense_Mutation_p.G1292V|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1443V|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1292V|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1442V|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1292V|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1377V Q13635 PTC1_HUMAN patched 1 1443 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GGAGCTGCTTCCCCGGGGCCT 0.612000 37 43 1.00953e-15 1.15375e-15 0.013114 1 0 GPR139 124274 broad.mit.edu 37 16 20043949 20043949 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:20043949C>T ENST00000570682.1 - 2 470 c.170G>A c.(169-171)aGa>aAa p.R57K NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 57 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CTTCTGTCTTCTTGCCACCAG 0.463000 19 25 0 0 0.014323 0 0 FREM2 341640 broad.mit.edu 37 13 39263707 39263707 + Silent SNP G G C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:39263707G>C ENST00000280481.7 + 1 2442 c.2226G>C c.(2224-2226)gtG>gtC p.V742V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 742 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTTACACAGTGACTCAGTCCC 0.542000 11 31 0 0 0.013537 0 0 FBLN7 129804 broad.mit.edu 37 2 112945036 112945036 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:112945036A>G ENST00000331203.2 + 8 1544 c.1273A>G c.(1273-1275)Aac>Gac p.N425D FBLN7_ENST00000409667.3_Missense_Mutation_p.N291D|FBLN7_ENST00000409450.3_Missense_Mutation_p.N379D|FBLN7_ENST00000409903.1_Silent_p.P340P NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 425 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTTCCAGGCCAACCACGTGTC 0.582000 45 64 0 0 0.014410 0 0 LYST 1130 broad.mit.edu 37 1 235969062 235969062 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:235969062T>C ENST00000389794.3 - 6 3548 c.3374A>G c.(3373-3375)gAa>gGa p.E1125G LYST_ENST00000536965.1_Missense_Mutation_p.E1125G|LYST_ENST00000389793.2_Missense_Mutation_p.E1125G Q99698 LYST_HUMAN lysosomal trafficking regulator 1125 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TAACTCCAATTCCATCTTCTG 0.348000 56 19 0 0 0.014410 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94913509 94913509 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:94913509C>T ENST00000289495.5 + 15 3572 c.3356C>T c.(3355-3357)tCa>tTa p.S1119L PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S1159L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000340694.4_Intron NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 913 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACTCTAATTTCAGATAAAAAG 0.438000 HNSCC(28;0.073) 10 23 0 0 0.010729 0 0 HERC4 26091 broad.mit.edu 37 10 69684878 69684878 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:69684878G>A ENST00000395198.3 - 25 3176 c.2929C>T c.(2929-2931)Cac>Tac p.H977Y HERC4_ENST00000373700.4_Missense_Mutation_p.H969Y|HERC4_ENST00000412272.2_Missense_Mutation_p.H899Y|HERC4_ENST00000277817.6_Missense_Mutation_p.H867Y|HERC4_ENST00000395187.2_3'UTR NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 977 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 GGTAATTCGTGAAATACTTCC 0.284000 15 14 0 0 0.007413 0 0 LMO3 55885 broad.mit.edu 37 12 16704206 16704206 + Missense_Mutation SNP C C G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:16704206C>G ENST00000320122.6 - 4 910 c.388G>C c.(388-390)Gac>Cac p.D130H LMO3_ENST00000535535.1_Missense_Mutation_p.D130H|LMO3_ENST00000534946.1_Missense_Mutation_p.D130H|LMO3_ENST00000541846.1_Missense_Mutation_p.D130H|LMO3_ENST00000447609.1_Missense_Mutation_p.D130H|LMO3_ENST00000441439.2_Missense_Mutation_p.D130H|LMO3_ENST00000541295.1_Missense_Mutation_p.D148H|LMO3_ENST00000540848.1_Missense_Mutation_p.D130H|LMO3_ENST00000354662.1_Missense_Mutation_p.D130H|LMO3_ENST00000540445.1_Missense_Mutation_p.D152H|LMO3_ENST00000261169.6_Missense_Mutation_p.D141H|LMO3_ENST00000537304.1_Missense_Mutation_p.D130H NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 130 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) TCCTCGTAGTCCGTCTGGCAA 0.348000 19 25 0 0 0.008871 0 0 ZFP64 55734 broad.mit.edu 37 20 50701144 50701144 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:50701144G>A ENST00000361387.2 - 9 1950 c.1890C>T c.(1888-1890)gtC>gtT p.V630V ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.V411V NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCCCCACGGAGACCAGGGTGC 0.602000 21 22 0 0 0.003330 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089998 43089998 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:43089998G>A ENST00000359467.3 - 5 514 c.400C>T c.(400-402)Cct>Tct p.P134S ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 134 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTTCTGGAAGGAAAAGAACTT 0.328000 11 21 0 0 0.008291 0 0 OSBPL5 114879 broad.mit.edu 37 11 3123489 3123489 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:3123489G>A ENST00000263650.7 - 12 1508 c.1349C>T c.(1348-1350)cCc>cTc p.P450L OSBPL5_ENST00000542243.1_Missense_Mutation_p.P81L|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P382L|OSBPL5_ENST00000525498.1_Missense_Mutation_p.P361L|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P382L NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 450 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCCCAGGATGGGGTTGTACGG 0.592000 6 4 0 0 0.004482 0 0 CYLC1 1538 broad.mit.edu 37 X 83126562 83126562 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:83126562C>T ENST00000329312.4 + 3 198 c.161C>T c.(160-162)tCa>tTa p.S54L NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 54 S -> G (in Ref. 3; CAA80457). cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CCTTTGAAATCACAAATAACA 0.299000 17 6 0 0 0.004990 0 0 SLC13A2 9058 broad.mit.edu 37 17 26816349 26816349 + Translation_Start_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:26816349G>A ENST00000537681.1 + 0 336 SLC13A2_ENST00000444914.3_Missense_Mutation_p.D74N|SLC13A2_ENST00000314669.5_Missense_Mutation_p.D74N|SLC13A2_ENST00000545060.1_Intron Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GGGCATCGTGGATGCCTCTGA 0.607000 11 21 0 0 0.008291 0 0 RPE65 6121 broad.mit.edu 37 1 68905294 68905294 + Silent SNP G G A rs114379164 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:68905294G>A ENST00000262340.5 - 7 728 c.675C>T c.(673-675)atC>atT p.I225I NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 225 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ATTGTACAACGATCTCTGACT 0.363000 13 35 0 0 0.003163 0 0 BDKRB2 624 broad.mit.edu 37 14 96703490 96703490 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:96703490G>A ENST00000306005.3 + 2 242 c.46G>A c.(46-48)Gac>Aac p.D16N RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.D16N|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.D16N NM_000623.3 NP_000614.1 P30411 BKRB2_HUMAN bradykinin receptor B2 16 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TGTTCGTGAGGACTCCGTGCC 0.527000 27 30 0 0 0.006320 0 0 FLG2 388698 broad.mit.edu 37 1 152326763 152326763 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:152326763C>T ENST00000388718.5 - 3 3571 c.3499G>A c.(3499-3501)Ggc>Agc p.G1167S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1167 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCATGTTGGCCACAGCCAGAT 0.488000 90 43 0 0 0.014410 0 0 RPP38 10557 broad.mit.edu 37 10 15145764 15145764 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:15145764A>G ENST00000378197.4 + 3 965 c.451A>G c.(451-453)Agc>Ggc p.S151G RPP38_ENST00000378202.5_Missense_Mutation_p.S151G|NMT2_ENST00000466201.1_Intron|RPP38_ENST00000451677.1_Intron NM_183005.4 NP_892117.1 P78345 RPP38_HUMAN ribonuclease P/MRP 38kDa subunit 151 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1) 8 GATTCAGTTAAGCCTAAGCAG 0.498000 19 15 0 0 0.008871 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605804 58605804 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:58605804G>A ENST00000287275.1 - 3 506 c.116C>T c.(115-117)cCt>cTt p.P39L GLYATL2_ENST00000532258.1_Missense_Mutation_p.P39L|GLYATL2_ENST00000533636.1_5'UTR NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 39 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CATGTTGAAAGGGTTTTTATC 0.428000 16 23 0 0 0.004990 0 0 EPHA1 2041 broad.mit.edu 37 7 143095042 143095042 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:143095042G>A ENST00000275815.3 - 8 1672 c.1586C>T c.(1585-1587)cCt>cTt p.P529L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 529 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CTCATGATCAGGGGAGAAAGG 0.567000 17 20 0 0 0.004007 0 0 CNGB1 1258 broad.mit.edu 37 16 57931789 57931789 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:57931789G>A ENST00000564448.1 - 30 3048 c.2988C>T c.(2986-2988)atC>atT p.I996I CNGB1_ENST00000251102.8_Silent_p.I1002I Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1002 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCCCTGCCTGGATGATGTACA 0.547000 72 10 0 0 0.014410 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94827677 94827677 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:94827677G>A ENST00000289495.5 + 5 1987 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E591K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E591K|AC002429.5_ENST00000417881.2_RNA NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 591 PDZ. cell junction|synapse|synaptosome actin binding p.E591*(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TATTGGGCGGGAAAAACCAGG 0.448000 HNSCC(28;0.073) 32 34 0 0 0.009535 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264206 140264206 + Missense_Mutation SNP G G A rs116377419 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140264206G>A ENST00000289272.2 + 1 2353 c.2353G>A c.(2353-2355)Gga>Aga p.G785R PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G785R|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGCAGAGGGAACAGGCCA 0.522000 14 21 0 0 0.004990 0 0 ZNF213 7760 broad.mit.edu 37 16 3187497 3187497 + Silent SNP C C G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:3187497C>G ENST00000396878.3 + 2 691 c.216C>G c.(214-216)cgC>cgG p.R72R ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000576416.1_Silent_p.R72R|ZNF213_ENST00000574902.1_Silent_p.R72R NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 72 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 TCTGCTGCCGCTGGCTGCGGC 0.657000 14 22 0 0 0.002450 0 0 OR6C76 390326 broad.mit.edu 37 12 55820418 55820418 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:55820418G>A ENST00000328314.3 + 1 381 c.381G>A c.(379-381)ctG>ctA p.L127L NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GTAAGCCTCTGCATTATACAA 0.443000 32 49 0 0 0.012213 0 0 MYO1E 4643 broad.mit.edu 37 15 59510172 59510172 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:59510172G>A ENST00000288235.4 - 10 1424 c.1025C>T c.(1024-1026)aCc>aTc p.T342I NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 342 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TACGTTGAGGGTCACGTGGAT 0.527000 39 55 0 0 0.005524 0 0 GUCY2C 2984 broad.mit.edu 37 12 14766069 14766069 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:14766069C>T ENST00000261170.3 - 27 3340 c.3204G>A c.(3202-3204)aaG>aaA p.K1068K RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1068 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGTGCTCTCCTTGTCTGTGG 0.438000 55 46 0 0 0.014410 0 0 LPHN2 23266 broad.mit.edu 37 1 82434923 82434923 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:82434923C>T ENST00000370728.1 + 17 3218 c.2573C>T c.(2572-2574)tCc>tTc p.S858F LPHN2_ENST00000335786.5_Missense_Mutation_p.S858F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S845F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S858F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S845F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S858F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S858F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S858F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S783F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S858F O95490 LPHN2_HUMAN latrophilin 2 858 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATTGTCATTTCCCTTGTTTGC 0.398000 55 72 0 0 0.014410 0 0 NTNG1 22854 broad.mit.edu 37 1 107867445 107867445 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:107867445G>A ENST00000370067.1 + 3 1415 c.788G>A c.(787-789)aGg>aAg p.R263K NTNG1_ENST00000370061.3_Missense_Mutation_p.R263K|NTNG1_ENST00000370074.4_Missense_Mutation_p.R263K|NTNG1_ENST00000370073.2_Missense_Mutation_p.R263K|NTNG1_ENST00000370066.1_Missense_Mutation_p.R263K|NTNG1_ENST00000542803.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370065.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370071.2_Missense_Mutation_p.R263K|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Missense_Mutation_p.R263K|NTNG1_ENST00000370068.1_Missense_Mutation_p.R263K|NTNG1_ENST00000370070.2_Missense_Mutation_p.R263K Q9Y2I2 NTNG1_HUMAN netrin G1 263 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ACAGACCTGAGGATAAGGCTG 0.478000 17 15 0 0 0.006122 0 0 BRCA2 675 broad.mit.edu 37 13 32907431 32907431 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:32907431C>T ENST00000544455.1 + 10 2043 c.1816C>T c.(1816-1818)Ccg>Tcg p.P606S BRCA2_ENST00000380152.3_Missense_Mutation_p.P606S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 606 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAAAAAATACCGAAAGACCA 0.318000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 25 7 0 0 0.002780 0 0 BHMT 635 broad.mit.edu 37 5 78423682 78423682 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:78423682T>C ENST00000274353.5 + 7 1020 c.913T>C c.(913-915)Tac>Cac p.Y305H DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.Y152H NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 305 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) ATTTGAGCCCTACCACATCAG 0.542000 14 19 0 0 0.001855 0 0 ADAM7 8756 broad.mit.edu 37 8 24346766 24346766 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:24346766C>T ENST00000175238.6 + 12 1269 c.1186C>T c.(1186-1188)Cct>Tct p.P396S RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P396S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.P168S NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 396 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CATTCCATTTCCTTACAATTT 0.403000 14 13 0 0 0.003163 0 0 SEPT12 124404 broad.mit.edu 37 16 4828112 4828112 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:4828112G>A ENST00000268231.8 - 9 1113 c.850C>T c.(850-852)Cct>Tct p.P284S SEPT12_ENST00000396693.5_Missense_Mutation_p.P238S NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 284 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CTCAGGAGAGGAAATTCACAG 0.602000 15 15 0 0 0.006122 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138711564 138711564 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:138711564G>A ENST00000275766.1 - 4 787 c.776C>T c.(775-777)tCg>tTg p.S259L NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 259 NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 ATGCTCAGTCGAAGGTGATGA 0.507000 16 18 0 0 0.004007 0 0 WIPF3 644150 broad.mit.edu 37 7 29927732 29927732 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:29927732C>T ENST00000409290.1 + 5 1148 c.1148C>T c.(1147-1149)tCa>tTa p.S383L WIPF3_ENST00000242140.5_Missense_Mutation_p.S383L|WIPF3_ENST00000409123.1_Missense_Mutation_p.S383L NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 383 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 CCTGCGAGATCACCTACCACA 0.567000 10 7 0 0 0.008291 0 0 SH2D1B 117157 broad.mit.edu 37 1 162381717 162381717 + Silent SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:162381717T>C ENST00000367929.2 - 1 199 c.90A>G c.(88-90)ttA>ttG p.L30L SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.L30L NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 30 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CGCTGTCTCTTAAAAGAAAGT 0.507000 21 75 0 0 0.002780 0 0 SLC5A9 200010 broad.mit.edu 37 1 48701515 48701515 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:48701515G>A ENST00000236495.5 + 11 1381 c.1331G>A c.(1330-1332)aGg>aAg p.R444K SLC5A9_ENST00000438567.2_Missense_Mutation_p.R419K|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R440K|SLC5A9_ENST00000420136.2_3'UTR NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 419 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CGCTTCCGCAGGAAGTCAACA 0.607000 23 36 0 0 0.003954 0 0 ADAM20 8748 broad.mit.edu 37 14 70989629 70989629 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:70989629G>A ENST00000256389.3 - 2 2240 c.1996C>T c.(1996-1998)Cca>Tca p.P666S RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 616 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ATCTTTTCTGGACCACATACT 0.468000 64 81 0 0 0.014410 0 0 SNRNP200 23020 broad.mit.edu 37 2 96950138 96950138 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:96950138G>A ENST00000323853.5 - 31 4427 c.4350C>T c.(4348-4350)ctC>ctT p.L1450L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1450 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCACCACGAAGAGGTTGATGT 0.562000 17 22 0 0 0.008871 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:19455440C>T ENST00000396229.2 + 4 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 34 26 0 0 0.004289 0 0 EXPH5 23086 broad.mit.edu 37 11 108409812 108409812 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:108409812G>A ENST00000265843.4 - 3 492 c.382C>T c.(382-384)Ctg>Ttg p.L128L EXPH5_ENST00000525344.1_Silent_p.L121L|EXPH5_ENST00000428840.1_Silent_p.L52L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 128 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AATGAGAACAGGGAAGCAAAT 0.408000 43 36 0 0 0.013114 0 0 MGAT4A 11320 broad.mit.edu 37 2 99272821 99272821 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:99272821C>T ENST00000393487.1 - 7 1005 c.692G>A c.(691-693)aGa>aAa p.R231K MGAT4A_ENST00000264968.2_Missense_Mutation_p.R231K|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R231K|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000414521.2_Missense_Mutation_p.R103K NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 231 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 TCACCTTACTCTTTCTTTGGA 0.368000 48 65 0 0 0.014410 0 0 ATP1A3 478 broad.mit.edu 37 19 42492161 42492161 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:42492161C>T ENST00000545399.1 - 4 476 c.323G>A c.(322-324)tGg>tAg p.W108* ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.W65*|ATP1A3_ENST00000302102.5_Nonsense_Mutation_p.W95*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.W106* NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 95 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGCCCCGATCCACAGCAGGAT 0.652000 41 51 0 0 0.011902 0 0 MFSD4 148808 broad.mit.edu 37 1 205561299 205561299 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:205561299T>C ENST00000367147.4 + 7 1274 c.1181T>C c.(1180-1182)cTt>cCt p.L394P MFSD4_ENST00000539267.1_Missense_Mutation_p.L394P|MFSD4_ENST00000536357.1_Missense_Mutation_p.L307P NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 394 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGGTGCTGCTTATTTTCTCC 0.597000 OREG0014160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 73 0 0 0.014323 0 0 GPR155 151556 broad.mit.edu 37 2 175333794 175333794 + Splice_Site SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:175333794A>T ENST00000392552.2 - 5 1266 c.1026_splice c.e5-1 p.I343_splice GPR155_ENST00000392551.2_Splice_Site_p.I343_splice|GPR155_ENST00000295500.4_Splice_Site_p.I343_splice NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 343 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 CCCTGAGGTTATCTGCAAAAA 0.378000 15 13 0 0 0.004007 0 0 ITGB5 3693 broad.mit.edu 37 3 124536493 124536493 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:124536493A>T ENST00000296181.4 - 8 1399 c.1103T>A c.(1102-1104)aTt>aAt p.I368N ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 368 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) AATCAGTTGAATAATATTTTT 0.433000 10 18 0 0 0.008291 0 0 USH1C 10083 broad.mit.edu 37 11 17518312 17518312 + Missense_Mutation SNP C C T rs138123405 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:17518312C>T ENST00000005226.7 - 25 2538 c.2539G>A c.(2539-2541)Gat>Aat p.D847N USH1C_ENST00000527720.1_Missense_Mutation_p.D516N|USH1C_ENST00000318024.4_Missense_Mutation_p.D547N|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.D528N NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 547 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TACAGCTCATCGTCATACTCC 0.572000 18 16 0 0 0.007413 0 0 TP63 8626 broad.mit.edu 37 3 189526085 189526085 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:189526085C>T ENST00000264731.3 + 4 438 c.349C>T c.(349-351)Ctg>Ttg p.L117L TP63_ENST00000392463.2_Silent_p.L23L|TP63_ENST00000320472.5_Silent_p.L117L|TP63_ENST00000392460.3_Silent_p.L117L|TP63_ENST00000354600.5_Silent_p.L23L|TP63_ENST00000418709.2_Silent_p.L117L|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Silent_p.L117L|TP63_ENST00000437221.1_Silent_p.L23L|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.L23L|TP63_ENST00000392461.3_Silent_p.L23L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 117 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCTGGGGCTCCTGAACAGCAT 0.577000 HNSCC(45;0.13) 16 27 0 0 0.006122 0 0 ZNF816 125893 broad.mit.edu 37 19 53432252 53432252 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:53432252G>A ENST00000549216.1 - 2 469 c.399C>T c.(397-399)acC>acT p.T133T ZNF321P_ENST00000391777.3_Silent_p.T202T|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Silent_p.T202T NM_001202473.1 NP_001189402.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TAGAAATACGGGTTTTGGGAC 0.343000 27 26 0 0 0.008361 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42143938 42143938 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:42143938C>T ENST00000444063.1 + 3 522 c.390C>T c.(388-390)gtC>gtT p.V130V L3MBTL1_ENST00000373135.3_Silent_p.V130V|L3MBTL1_ENST00000457824.1_Intron|L3MBTL1_ENST00000418998.1_Silent_p.V198V|L3MBTL1_ENST00000427442.2_Silent_p.V198V|L3MBTL1_ENST00000373134.1_Silent_p.V130V Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 130 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TCAGGTCAGTCATAGTGGAGA 0.582000 6 7 0 0 0.001168 0 0 DRD3 1814 broad.mit.edu 37 3 113878691 113878691 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:113878691G>A ENST00000383673.2 - 3 724 c.294C>T c.(292-294)ttC>ttT p.F98F DRD3_ENST00000460779.1_Silent_p.F98F|DRD3_ENST00000295881.7_Silent_p.F98F|DRD3_ENST00000467632.1_Silent_p.F98F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 98 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AAATGCGGCTGAAATTCCAGA 0.483000 28 36 0 0 0.008361 0 0 ZNF438 220929 broad.mit.edu 37 10 31137977 31137977 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:31137977G>A ENST00000538351.1 - 7 1964 c.1210C>T c.(1210-1212)Cca>Tca p.P404S ZNF438_ENST00000442986.1_Missense_Mutation_p.P453S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P443S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P453S|ZNF438_ENST00000375311.1_Missense_Mutation_p.P17S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P443S|ZNF438_ENST00000361310.3_Missense_Mutation_p.P453S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P443S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P453S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AGTGTAGTTGGAGAAGCCAGG 0.458000 20 35 0 0 0.008871 0 0 RNF6 6049 broad.mit.edu 37 13 26788621 26788621 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:26788621C>T ENST00000381588.4 - 5 2150 c.1398G>A c.(1396-1398)agG>agA p.R466R RNF6_ENST00000346166.3_Silent_p.R466R|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Silent_p.R466R|RNF6_ENST00000399762.2_Silent_p.R110R NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 466 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TCTCAGAAATCCTACGAAGAG 0.448000 47 37 0 0 0.013114 0 0 SSFA2 6744 broad.mit.edu 37 2 182766878 182766878 + Silent SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:182766878T>C ENST00000431877.2 + 8 1277 c.1098T>C c.(1096-1098)agT>agC p.S366S SSFA2_ENST00000409001.1_Silent_p.S366S|SSFA2_ENST00000320370.7_Silent_p.S366S|SSFA2_ENST00000428267.2_Silent_p.S213S NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 366 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCTCTGGTAGTTCAGCAGCTG 0.333000 18 21 0 0 0.007413 0 0 TRIM63 84676 broad.mit.edu 37 1 26385114 26385114 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:26385114C>T ENST00000374272.3 - 5 736 c.597_splice c.e5-1 p.E200_splice NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 200 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding p.E200K(1) kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TGACTGTTCTCCTGAGGACGG 0.493000 46 47 0 0 0.013114 0 0 LPIN1 23175 broad.mit.edu 37 2 11924042 11924042 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:11924042C>T ENST00000256720.2 + 8 1337 c.1244C>T c.(1243-1245)cCc>cTc p.P415L LPIN1_ENST00000425416.2_Missense_Mutation_p.P421L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P500L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P457L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P457L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P145L NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 415 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CTGTATTTTCCCAAAAAGTAA 0.418000 40 65 0 0 0.005524 0 0 QRICH2 84074 broad.mit.edu 37 17 74287678 74287678 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:74287678G>A ENST00000262765.5 - 4 2811 c.2632C>T c.(2632-2634)Cca>Tca p.P878S NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 878 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TAAGTTTCTGGTGGTACCAAA 0.502000 38 44 0 0 0.004878 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360292 55360292 + Silent SNP G G A rs147515881 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:55360292G>A ENST00000398661.2 - 8 941 c.810C>T c.(808-810)atC>atT p.I270I HMGCLL1_ENST00000308161.4_Silent_p.I208I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Silent_p.I137I|HMGCLL1_ENST00000274901.4_Silent_p.I240I NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 270 hydroxymethylglutaryl-CoA lyase activity|metal ion binding p.I270I(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CACCTGGTGGGATTTCTTTCA 0.433000 38 34 0 0 0.004878 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546526 2546526 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:2546526C>T ENST00000567020.1 + 2 517 c.377C>T c.(376-378)cCc>cTc p.P126L RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.P126L|TBC1D24_ENST00000434757.2_Missense_Mutation_p.P126L|TBC1D24_ENST00000293970.5_Missense_Mutation_p.P126L NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 126 Rab-GAP TBC. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 AACCAGTTCCCCGACATCTCC 0.672000 17 32 0 0 0.008871 0 0 KRT85 3891 broad.mit.edu 37 12 52754687 52754687 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:52754687G>A ENST00000257901.3 - 9 1549 c.1474C>T c.(1474-1476)Cgt>Tgt p.R492C KRT85_ENST00000544265.1_Missense_Mutation_p.R280C NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 492 Tail. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTGGAGGAACGAGGCTGGCAG 0.652000 25 38 0 0 0.003954 0 0 KIF14 9928 broad.mit.edu 37 1 200523698 200523698 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:200523698C>T ENST00000367350.4 - 29 4903 c.4465G>A c.(4465-4467)Gaa>Aaa p.E1489K NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1489 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TCTTGGTATTCAAAGTTTTCT 0.303000 12 43 0 0 0.001855 0 0 ZNF101 94039 broad.mit.edu 37 19 19788776 19788776 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:19788776C>T ENST00000592502.1 + 2 217 c.107C>T c.(106-108)aCc>aTc p.T36I ZNF101_ENST00000415784.2_5'UTR|ZNF101_ENST00000444249.2_Missense_Mutation_p.T36I Q8IZC7 ZN101_HUMAN zinc finger protein 101 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 ACGCTGGAAACCTTCAGGAAC 0.498000 18 31 0 0 0.006122 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532747 84532747 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:84532747C>T ENST00000527857.1 + 0 2769 NR_026851.1 CATATTAAAACTTTCCGTATG 0.438000 8 13 0 0 0.003080 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718421 103718421 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:103718421C>T ENST00000245312.3 - 1 775 c.179G>A c.(178-180)gGg>gAg p.G60E NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 60 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTTATGTGCCCTAGAAATTT 0.498000 50 47 0 0 0.014410 0 0 USH1C 10083 broad.mit.edu 37 11 17537820 17537820 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:17537820G>A ENST00000005226.7 - 15 1227 c.1228C>T c.(1228-1230)Cgt>Tgt p.R410C USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CCATCGTAACGATAAAACCAT 0.493000 13 12 0 0 0.013537 0 0 TTC38 55020 broad.mit.edu 37 22 46671153 46671153 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:46671153C>T ENST00000381031.3 + 5 450 c.374C>T c.(373-375)cCg>cTg p.P125L TTC38_ENST00000445282.2_Intron NM_017931.2 NP_060401.2 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 125 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 AGGAACTTTCCGAAAGCCTGT 0.478000 14 18 0 0 0.001855 0 0 FAT3 120114 broad.mit.edu 37 11 92523263 92523263 + Missense_Mutation SNP T T G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:92523263T>G ENST00000298047.6 + 7 4507 c.4490T>G c.(4489-4491)gTt>gGt p.V1497G FAT3_ENST00000409404.2_Missense_Mutation_p.V1497G|FAT3_ENST00000525166.1_Missense_Mutation_p.V1347G Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1497 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTACACTGTTCATAGCAGC 0.507000 TCGA Ovarian(4;0.039) 162 164 0 0 0.014410 0 0 OR6N1 128372 broad.mit.edu 37 1 158736335 158736335 + Missense_Mutation SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:158736335G>T ENST00000335094.2 - 1 157 c.138C>A c.(136-138)ttC>ttA p.F46L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGACCACCAGGAATATCAGCA 0.507000 80 33 1.32764e-51 1.52122e-51 0.014410 1 0 FOXO4 4303 broad.mit.edu 37 X 70321291 70321291 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:70321291C>T ENST00000374259.3 + 2 1543 c.1211C>T c.(1210-1212)tCc>tTc p.S404F FOXO4_ENST00000341558.3_Missense_Mutation_p.S349F NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 404 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) GGGCTTCCTTCCTCCAGTAAG 0.617000 14 1 0 0 0.002450 0 0 QDPR 5860 broad.mit.edu 37 4 17506007 17506007 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:17506007G>A ENST00000281243.5 - 3 469 c.290C>T c.(289-291)tCc>tTc p.S97F QDPR_ENST00000428702.2_Missense_Mutation_p.S66F|QDPR_ENST00000508623.1_Missense_Mutation_p.S97F|QDPR_ENST00000513615.1_Missense_Mutation_p.S97F NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 97 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) CTCACACTTGGATTTGGCATT 0.502000 24 2 0 0 0.004656 0 0 UTP18 51096 broad.mit.edu 37 17 49374332 49374332 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:49374332C>T ENST00000225298.7 + 13 1710 c.1653C>T c.(1651-1653)caC>caT p.H551H NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 551 GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043). rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CCAGGTTGCACCATTACTCAG 0.353000 17 21 0 0 0.008871 0 0 RABEPK 10244 broad.mit.edu 37 9 127996026 127996026 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:127996026C>T ENST00000373538.3 + 8 1196 c.886C>T c.(886-888)Cat>Tat p.H296Y RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.H296Y|RABEPK_ENST00000259460.8_Missense_Mutation_p.H245Y NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 296 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 ACGATTGGACCATTCCATGTG 0.448000 38 69 0 0 0.007835 0 0 UGT1A4 54657 broad.mit.edu 37 2 234628081 234628081 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:234628081G>A ENST00000373409.3 + 1 658 c.615G>A c.(613-615)atG>atA p.M205I UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) CAGACCACATGACATTCCTGC 0.448000 34 54 0 0 0.013726 0 0 MYLK 4638 broad.mit.edu 37 3 123419471 123419471 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:123419471G>A ENST00000360772.3 - 19 3222 c.2844C>T c.(2842-2844)ccC>ccT p.P948P MYLK_ENST00000359169.1_Silent_p.P948P|MYLK_ENST00000360304.3_Silent_p.P948P|MYLK_ENST00000346322.5_Silent_p.P879P|MYLK_ENST00000475616.1_Silent_p.P948P Q15746 MYLK_HUMAN myosin light chain kinase 948 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CGACCTGCTGGGGGCTGTGCA 0.587000 21 15 0 0 0.012319 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477438 110477438 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:110477438G>A ENST00000378402.5 + 49 8481 c.8377G>A c.(8377-8379)Gaa>Aaa p.E2793K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2793 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGGGAACATGAAATGGTAAT 0.388000 HNSCC(38;0.096) 23 24 0 0 0.005443 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052919 33052919 + Missense_Mutation SNP T T G rs61736938 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:33052919T>G ENST00000418931.2 + 3 673 c.557T>G c.(556-558)gTg>gGg p.V186G NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 186 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CAGATCCTGGTGATGCTGGAA 0.557000 21 89 0 0 0.014323 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987027 7987027 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:7987027G>A ENST00000221573.6 + 4 531 c.480G>A c.(478-480)caG>caA p.Q160Q SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 160 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CTGGAGGACAGGAAGACCCCG 0.662000 32 32 0 0 0.012213 0 0 FLNC 2318 broad.mit.edu 37 7 128487761 128487761 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:128487761C>T ENST00000325888.8 + 25 4560 c.4299C>T c.(4297-4299)ttC>ttT p.F1433F FLNC_ENST00000346177.6_Silent_p.F1433F NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1433 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGAGCCCGTTCCGCGTGCCAG 0.657000 21 24 0 0 0.012319 0 0 RYR1 6261 broad.mit.edu 37 19 39023334 39023334 + Silent SNP G G A rs148659292 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:39023334G>A ENST00000355481.4 + 77 11333 c.11202G>A c.(11200-11202)ggG>ggA p.G3734G RYR1_ENST00000360985.3_Silent_p.G3739G|RYR1_ENST00000359596.3_Silent_p.G3739G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3739 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGAGGGAGGGGAGAACGGTG 0.602000 16 20 0 0 0.012319 0 0 ANKHD1 54882 broad.mit.edu 37 5 139917070 139917070 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:139917070G>A ENST00000297183.6 + 31 7248 c.7124G>A c.(7123-7125)cGa>cAa p.R2375Q ANKHD1_ENST00000544120.1_Missense_Mutation_p.R699Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2375Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2375Q NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACTGGCCCGAATTCGGCAA 0.557000 24 27 0 0 0.003330 0 0 ACAD11 84129 broad.mit.edu 37 3 132294746 132294746 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:132294746G>A ENST00000264990.6 - 17 2842 c.1871C>T c.(1870-1872)tCc>tTc p.S624F ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.S149F NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 GCGGCCTTGGGAAATTTCAAA 0.483000 26 37 0 0 0.007291 0 0 ATP10B 23120 broad.mit.edu 37 5 160039922 160039922 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:160039922C>T ENST00000327245.5 - 18 3510 c.2664G>A c.(2662-2664)ggG>ggA p.G888G NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 888 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCTTCGATCCCAGTGGCTC 0.507000 6 8 0 0 0.001168 0 0 SEPT9 10801 broad.mit.edu 37 17 75398634 75398634 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:75398634C>T ENST00000329047.8 + 2 1328 c.516C>T c.(514-516)atC>atT p.I172I SEPT9_ENST00000427177.1_Silent_p.I190I|SEPT9_ENST00000431235.2_Silent_p.I26I|SEPT9_ENST00000423034.2_Silent_p.I183I|SEPT9_ENST00000588690.1_Silent_p.I26I|SEPT9_ENST00000591198.1_Silent_p.I171I|SEPT9_ENST00000449803.2_Silent_p.I26I|SEPT9_ENST00000427674.2_Silent_p.I26I|SEPT9_ENST00000590294.1_Silent_p.I172I|SEPT9_ENST00000592420.1_5'UTR NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 190 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GGGTGGAGATCCAGATGCCCA 0.692000 7 4 0 0 0.001984 0 0 EMC7 56851 broad.mit.edu 37 15 34393911 34393911 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:34393911G>A ENST00000256545.4 - 1 238 c.130C>T c.(130-132)Cgc>Tgc p.R44C EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCTTGAAGCGATCTCCTATG 0.637000 49 48 0 0 0.014410 0 0 ATP13A5 344905 broad.mit.edu 37 3 193023422 193023422 + Silent SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:193023422T>A ENST00000342358.4 - 23 2721 c.2604A>T c.(2602-2604)tcA>tcT p.S868S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 868 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CTTCCTGCTCTGATAATGAAA 0.453000 44 51 0 0 0.014410 0 0 SLC17A3 10786 broad.mit.edu 37 6 25849613 25849613 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:25849613G>A ENST00000397060.4 - 11 1460 c.1351C>T c.(1351-1353)Ctt>Ttt p.L451F SLC17A3_ENST00000361703.6_Missense_Mutation_p.L373F|SLC17A3_ENST00000360657.3_Missense_Mutation_p.L373F NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 373 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TGACTAAGAAGAAATCCACTG 0.398000 7 22 0 0 0.004482 0 0 C8orf58 541565 broad.mit.edu 37 8 22459810 22459810 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:22459810C>T ENST00000409586.3 + 5 984 c.864C>T c.(862-864)tcC>tcT p.S288S C8orf58_ENST00000289989.5_Silent_p.S288S NM_001013842.2|NM_001198827.1|NM_173686.2 NP_001013864.1|NP_001185756.1|NP_775957.2 Q8NAV2 CH058_HUMAN chromosome 8 open reading frame 58 288 endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) ACTTGCCATCCTCCCAGGGAC 0.652000 7 10 0 0 0.006214 0 0 NUGGC 389643 broad.mit.edu 37 8 27917983 27917983 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:27917983C>T ENST00000413272.2 - 8 1199 c.1057G>A c.(1057-1059)Gtc>Atc p.V353I NUGGC_ENST00000341513.6_Missense_Mutation_p.V353I NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated ATCTTGGTGACCACCAGGGCC 0.567000 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 0.004482 0 0 TRPC7 57113 broad.mit.edu 37 5 135587556 135587556 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:135587556C>T ENST00000513104.1 - 6 1642 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K TRPC7_ENST00000426057.2_Missense_Mutation_p.E338K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E393K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 454 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCTTGCATTCGGACCAAATC 0.537000 12 19 0 0 0.010729 0 0 DNAH7 56171 broad.mit.edu 37 2 196636525 196636525 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:196636525G>A ENST00000312428.6 - 61 11392 c.11292C>T c.(11290-11292)ttC>ttT p.F3764F DNAH7_ENST00000409063.1_Silent_p.F247F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3764 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.F3764F(2) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCTCGATGTCGAAGTTGTTTG 0.448000 64 65 0 0 0.014410 0 0 CPNE5 57699 broad.mit.edu 37 6 36710090 36710090 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:36710090G>A ENST00000244751.2 - 21 2361 c.1737C>T c.(1735-1737)tcC>tcT p.S579S CPNE5_ENST00000393189.2_Silent_p.S287S|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 579 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TGCGGGCTGGGGACTGCGAGG 0.677000 33 70 0 0 0.005524 0 0 SCN5A 6331 broad.mit.edu 37 3 38608041 38608041 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:38608041C>T ENST00000413689.1 - 21 3892 c.3699G>A c.(3697-3699)aaG>aaA p.K1233K SCN5A_ENST00000455624.2_Silent_p.K1232K|SCN5A_ENST00000451551.2_Silent_p.K1179K|SCN5A_ENST00000450102.2_Silent_p.K1179K|SCN5A_ENST00000449557.2_Silent_p.K1179K|SCN5A_ENST00000443581.1_Silent_p.K1232K|SCN5A_ENST00000425664.1_Silent_p.K1233K|SCN5A_ENST00000423572.2_Silent_p.K1232K|SCN5A_ENST00000414099.2_Silent_p.K1233K|SCN5A_ENST00000333535.4_Silent_p.K1233K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1233 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCTTGATGGTCTTCCGCTCCT 0.542000 18 22 0 0 0.008871 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656647 40656647 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:40656647A>C ENST00000406785.1 - 2 963 c.774T>G c.(772-774)ttT>ttG p.F258L SLC8A1_ENST00000542756.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F258L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F258L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F258L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F258L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F258L P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 258 Calmodulin-binding (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATACTTGTAAAACAGAAGTC 0.448000 42 41 0 0 0.007835 0 0 OR4C13 283092 broad.mit.edu 37 11 49974726 49974726 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:49974726C>T ENST00000555099.1 + 1 784 c.752C>T c.(751-753)cCc>cTc p.P251L NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCCTTTATACCCTGCATATTT 0.423000 40 49 0 0 0.014410 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018297 161018297 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:161018297C>T ENST00000368013.3 - 12 2834 c.2514G>A c.(2512-2514)cgG>cgA p.R838R ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Silent_p.R661R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 838 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCCCACTCTCCCGTTCCTTGC 0.562000 34 123 0 0 0.003755 0 0 VEPH1 79674 broad.mit.edu 37 3 157178091 157178091 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:157178091G>A ENST00000362010.2 - 4 715 c.408C>T c.(406-408)ttC>ttT p.F136F VEPH1_ENST00000392832.2_Silent_p.F136F|VEPH1_ENST00000392833.2_Silent_p.F136F|VEPH1_ENST00000494677.1_Silent_p.F136F|VEPH1_ENST00000537559.1_Silent_p.F136F|VEPH1_ENST00000468233.1_Silent_p.F136F|VEPH1_ENST00000543418.1_Silent_p.F136F NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 136 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTCTGTGGAGGAATTTCACTG 0.443000 23 41 0 0 0.012319 0 0 ACTC1 70 broad.mit.edu 37 15 35083353 35083353 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:35083353C>T ENST00000290378.4 - 6 1607 c.952G>A c.(952-954)Gaa>Aaa p.E318K RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 318 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCAGTGATTTCCTTCTGCATA 0.453000 92 111 0 0 0.014410 0 0 TRPM2 7226 broad.mit.edu 37 21 45861607 45861607 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr21:45861607C>T ENST00000397928.1 + 32 4864 c.4419C>T c.(4417-4419)atC>atT p.I1473I TRPM2_ENST00000300481.9_Silent_p.I1419I|TRPM2_ENST00000397932.2_Silent_p.I1523I|TRPM2_ENST00000300482.5_Silent_p.I1473I|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1473 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGGCCTCCATCCGATGGCAGG 0.652000 16 18 0 0 0.006122 0 0 NINL 22981 broad.mit.edu 37 20 25459693 25459693 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:25459693G>A ENST00000278886.6 - 16 2140 c.2067C>T c.(2065-2067)gtC>gtT p.V689V NINL_ENST00000422516.1_Silent_p.V689V NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 689 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GGCCCCAGATGACCTCCTGAG 0.677000 23 36 0 0 0.003330 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849211 14849211 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:14849211C>T ENST00000261170.3 - 1 308 c.172G>A c.(172-174)Gtg>Atg p.V58M RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 58 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCCTCATTCACCGCATCTTCC 0.478000 12 11 0 0 0.013537 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209949039 209949039 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:209949039G>A ENST00000367024.1 + 11 1527 c.1011G>A c.(1009-1011)agG>agA p.R337R TRAF3IP3_ENST00000367025.3_Silent_p.R337R|TRAF3IP3_ENST00000367026.3_Silent_p.R317R|TRAF3IP3_ENST00000010338.4_Silent_p.R317R|TRAF3IP3_ENST00000477431.1_Silent_p.R73R|TRAF3IP3_ENST00000400959.3_Silent_p.R317R|TRAF3IP3_ENST00000367023.1_Silent_p.R73R Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 337 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCCAGCACAGGGAGCTGGAGA 0.612000 18 44 0 0 0.008871 0 0 ABCA13 154664 broad.mit.edu 37 7 48506563 48506563 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:48506563G>A ENST00000435803.1 + 44 12850 c.12826G>A c.(12826-12828)Gac>Aac p.D4276N ABCA13_ENST00000544596.1_Intron NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4276 transport integral to membrane ATP binding|ATPase activity p.D4221N(1)|p.D4276N(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGTGGGGGCGACAACTTGGA 0.498000 22 39 0 0 0.003954 0 0 FNDC7 163479 broad.mit.edu 37 1 109271457 109271457 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:109271457G>A ENST00000370017.3 + 8 1850 c.1573G>A c.(1573-1575)Gaa>Aaa p.E525K FNDC7_ENST00000271311.2_Missense_Mutation_p.E526K NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 526 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGCTGTGGCCGAAACACAGGC 0.577000 20 30 0 0 0.010504 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374018 86374018 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:86374018G>A ENST00000604798.1 - 8 1690 c.486C>T c.(484-486)caC>caT p.H162H MGAT4C_ENST00000332156.1_Silent_p.H162H|MGAT4C_ENST00000552808.2_Silent_p.H162H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Silent_p.H162H|MGAT4C_ENST00000393205.2_Silent_p.H191H|MGAT4C_ENST00000548651.1_Silent_p.H162H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 162 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.H162_H163>QN(1)|p.H162Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CAATAATATGGTGCGCAAATT 0.403000 30 29 0 0 0.006320 0 0 PPFIA1 8500 broad.mit.edu 37 11 70183477 70183477 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:70183477C>T ENST00000253925.7 + 12 1650 c.1435C>T c.(1435-1437)Ctt>Ttt p.L479F PPFIA1_ENST00000389547.3_Missense_Mutation_p.L479F|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 479 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCAGAACTCTCTTTTAAGAGA 0.333000 7 6 0 0 0.004482 0 0 RNF220 55182 broad.mit.edu 37 1 45091971 45091971 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:45091971C>T ENST00000355387.2 + 5 1257 c.807C>T c.(805-807)tcC>tcT p.S269S RNF220_ENST00000443020.2_Silent_p.S30S|RNF220_ENST00000372247.2_Silent_p.S269S|RNF220_ENST00000361799.2_Silent_p.S269S Q5VTB9 RN220_HUMAN ring finger protein 220 269 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TCTTCCAGTCCCTCCTGTTGT 0.537000 20 31 0 0 0.014323 0 0 EPS8L3 79574 broad.mit.edu 37 1 110304162 110304162 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:110304162G>A ENST00000369805.3 - 3 280 c.51C>T c.(49-51)tcC>tcT p.S17S EPS8L3_ENST00000361852.4_Silent_p.S17S|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.S17S NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 17 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) TGAGGTTCTGGGAGTACTCCT 0.612000 13 20 0 0 0.002450 0 0 NOMO1 23420 broad.mit.edu 37 16 14972621 14972621 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:14972621C>T ENST00000287667.7 + 23 2858 c.2687C>T c.(2686-2688)tCc>tTc p.S896F NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 896 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GTCCTCTTATCCCTGAGCGGT 0.498000 37 171 0 0 0.008740 0 0 DCDC1 341019 broad.mit.edu 37 11 31312346 31312346 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:31312346G>A ENST00000597505.1 - 5 807 c.808C>T c.(808-810)Cct>Tct p.P270S DCDC1_ENST00000452803.1_Missense_Mutation_p.P270S P59894 DCDC1_HUMAN doublecortin domain containing 1 270 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ATATCAGTAGGAAGCATCAAC 0.338000 16 22 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179448448 179448448 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179448448C>T ENST00000589042.1 - 312 65685 c.65461G>A c.(65461-65463)Gct>Act p.A21821T TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A20180T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12756T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12948T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12881T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A19253T|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20180 Fibronectin type-III 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGCCAGTAGCTGTGTACTCT 0.448000 8 7 0 0 0.003080 0 0 DNAH11 8701 broad.mit.edu 37 7 21778324 21778324 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:21778324C>T ENST00000328843.6 + 48 7703 c.7672C>T c.(7672-7674)Ctt>Ttt p.L2558F DNAH11_ENST00000409508.3_Missense_Mutation_p.L2551F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2558 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTCAGAAATTCTTGAGAAACC 0.333000 Kartagener syndrome 2 0 0 0 0.004672 0 0 SPR 6697 broad.mit.edu 37 2 73118625 73118625 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:73118625G>A ENST00000234454.5 + 3 818 c.745G>A c.(745-747)Gag>Aag p.E249K SPR_ENST00000498749.1_3'UTR NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 249 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 GGAAAAGGACGAGTTCAAGTC 0.517000 25 40 0 0 0.004656 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758666 121758666 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:121758666G>A ENST00000261367.7 + 6 1803 c.375G>A c.(373-375)cgG>cgA p.R125R SNCAIP_ENST00000379533.2_Silent_p.R125R|SNCAIP_ENST00000261368.8_Silent_p.R78R|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Silent_p.R125R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Silent_p.R78R Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 78 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAGTGAAGCGGGTTTCGCCAC 0.478000 21 17 0 0 0.012319 0 0 PHF2 5253 broad.mit.edu 37 9 96435917 96435917 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:96435917C>T ENST00000359246.4 + 18 2766 c.2399C>T c.(2398-2400)tCc>tTc p.S800F PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 800 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GGAATGCTGTCCATGGCCAAC 0.667000 21 21 0 0 0.010504 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820847 62820847 + RNA SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:62820847G>A ENST00000582986.1 - 0 188 NR_024386.1 GGATGTGCTTGGTGTGCAGGC 0.582000 9 12 0 0 0.004482 0 0 AFP 174 broad.mit.edu 37 4 74318310 74318310 + Nonsense_Mutation SNP C C T rs144607501 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:74318310C>T ENST00000395792.2 + 12 1721 c.1621C>T c.(1621-1623)Cag>Tag p.Q541* AFP_ENST00000226359.2_Nonsense_Mutation_p.Q541* NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 541 Albumin 3. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTGCCAAGCTCAGGGTGTAGC 0.458000 Alpha-Fetoprotein, Hereditary Persistence of 11 12 0 0 0.013537 0 0 OR2B11 127623 broad.mit.edu 37 1 247614628 247614628 + Silent SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:247614628A>G ENST00000318749.6 - 1 680 c.657T>C c.(655-657)ctT>ctC p.L219L NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CATAGGAGAGAAGGATGAGAG 0.577000 46 27 0 0 0.014410 0 0 SVEP1 79987 broad.mit.edu 37 9 113221378 113221378 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:113221378C>T ENST00000401783.2 - 19 3674 c.3338G>A c.(3337-3339)gGa>gAa p.G1113E SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1113E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1090E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1113 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CGAGAATTTTCCTTCTGGACA 0.423000 28 42 0 0 0.009535 0 0 FAM124A 220108 broad.mit.edu 37 13 51826083 51826083 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:51826083C>T ENST00000322475.8 + 3 715 c.580C>T c.(580-582)Ctc>Ttc p.L194F FAM124A_ENST00000280057.6_Missense_Mutation_p.L230F NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 194 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CCAGCTGATTCTCCGGAGGAG 0.552000 25 24 0 0 0.005443 0 0 MMD2 221938 broad.mit.edu 37 7 4947073 4947073 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:4947073C>T ENST00000404774.3 - 7 961 c.767G>A c.(766-768)aGg>aAg p.R256K MMD2_ENST00000401401.3_Missense_Mutation_p.R232K|MMD2_ENST00000406755.1_3'UTR NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 256 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) ATAGAGGTACCTCCAGATGGC 0.532000 28 38 0 0 0.007291 0 0 SLC10A5 347051 broad.mit.edu 37 8 82605900 82605900 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:82605900G>A ENST00000518568.1 - 1 2509 c.1308C>T c.(1306-1308)ttC>ttT p.F436F NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 436 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 GTTAGATTAGGAAATTTCTTT 0.338000 6 13 0 0 0.001168 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302735 145302735 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:145302735C>T ENST00000342960.5 + 8 1208 c.1173C>T c.(1171-1173)tcC>tcT p.S391S NBPF10_ENST00000369338.1_Silent_p.S120S|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.S120S NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 391 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGATGCCTCCCGCTCATTGA 0.557000 5 169 0 0 0.008291 0 0 KRAS 3845 broad.mit.edu 37 12 25380274 25380274 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:25380274C>T ENST00000311936.3 - 3 375 c.184G>A c.(184-186)Gag>Aag p.E62K KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.E62K NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 62 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTGTACTCCTCTTGACCTGCT 0.423000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 12 0 0 0.010729 0 0 PRKCB 5579 broad.mit.edu 37 16 24166007 24166007 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:24166007C>T ENST00000303531.7 + 10 1220 c.1068C>T c.(1066-1068)gtC>gtT p.V356V PRKCB_ENST00000321728.7_Silent_p.V356V NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 356 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTTCCCAGGTCATGCTTTCAG 0.488000 10 16 0 0 0.010729 0 0 MAP1B 4131 broad.mit.edu 37 5 71492061 71492061 + Missense_Mutation SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:71492061A>G ENST00000296755.7 + 5 3177 c.2879A>G c.(2878-2880)gAa>gGa p.E960G NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 960 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GATGGGGAGGAACACGTATGT 0.537000 18 24 0 0 0.006122 0 0 HEPH 9843 broad.mit.edu 37 X 65486289 65486289 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:65486289C>T ENST00000519389.1 + 21 3593 c.3414C>T c.(3412-3414)ccC>ccT p.P1138P HEPH_ENST00000343002.2_Silent_p.P1084P|HEPH_ENST00000441993.2_Silent_p.P1086P|HEPH_ENST00000419594.1_Silent_p.P895P|HEPH_ENST00000336279.5_Silent_p.P817P|HEPH_ENST00000374727.3_Silent_p.P1087P Q9BQS7 HEPH_HUMAN hephaestin 1084 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGCAGTGCCCCCCAGAGACA 0.433000 14 1 0 0 0.001855 0 0 SMYD3 64754 broad.mit.edu 37 1 246093226 246093226 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:246093226G>A ENST00000490107.1 - 6 584 c.368C>T c.(367-369)tCt>tTt p.S123F SMYD3_ENST00000541742.1_Missense_Mutation_p.S123F|SMYD3_ENST00000388985.4_Missense_Mutation_p.S182F|SMYD3_ENST00000366517.1_5'UTR NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 182 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GATGGTGAAAGAGTTGCAGAT 0.413000 51 21 0 0 0.014410 0 0 ANO4 121601 broad.mit.edu 37 12 101505387 101505387 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:101505387C>T ENST00000392979.3 + 23 2605 c.2244C>T c.(2242-2244)atC>atT p.I748I ANO4_ENST00000392977.3_Silent_p.I783I|ANO4_ENST00000550015.1_Silent_p.I303I|ANO4_ENST00000299222.9_Silent_p.I303I NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 783 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCTCTGTTATCACAAATGCAT 0.388000 HNSCC(74;0.22) 16 25 0 0 0.006122 0 0 MYH4 4622 broad.mit.edu 37 17 10348361 10348361 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:10348361G>A ENST00000255381.2 - 37 5508 c.5398C>T c.(5398-5400)Cgt>Tgt p.R1800C CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1800 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCATCCAGACGGAGCTGCAGA 0.562000 47 59 0 0 0.014410 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420507 55420507 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:55420507G>A ENST00000242994.3 + 2 662 c.284G>A c.(283-285)aGa>aAa p.R95K NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 95 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R95K(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GCTAATGCCAGAGAACGGACC 0.498000 22 20 0 0 0.012319 0 0 MGAM 8972 broad.mit.edu 37 7 141765518 141765518 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:141765518G>A ENST00000475668.2 + 40 4711 c.4657G>A c.(4657-4659)Gga>Aga p.G1553R MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1553 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTTTCAGACGGGAGCAGATAT 0.488000 16 25 0 0 0.004007 0 0 SLC6A11 6538 broad.mit.edu 37 3 10967706 10967706 + Missense_Mutation SNP T T A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:10967706T>A ENST00000254488.2 + 9 1203 c.1137T>A c.(1135-1137)ttT>ttA p.F379L NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 379 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.F379F(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GCCTGGCCTTTATTGCGTACC 0.557000 102 119 0 0 0.014410 0 0 METTL6 131965 broad.mit.edu 37 3 15467907 15467907 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:15467907C>T ENST00000443029.1 - 2 352 c.112G>A c.(112-114)Gaa>Aaa p.E38K METTL6_ENST00000383789.5_Missense_Mutation_p.E38K|METTL6_ENST00000383790.3_Missense_Mutation_p.E38K|METTL6_ENST00000450816.2_Missense_Mutation_p.E38K Q8TCB7 METL6_HUMAN methyltransferase like 6 38 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 GCCTCTTGTTCCAATTTCTGC 0.408000 29 36 0 0 0.005443 0 0 WIPI2 26100 broad.mit.edu 37 7 5269352 5269352 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:5269352C>T ENST00000288828.4 + 12 1467 c.1235C>T c.(1234-1236)tCa>tTa p.S412L WIPI2_ENST00000484262.1_Intron|WIPI2_ENST00000404704.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000401525.3_Missense_Mutation_p.S394L NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 412 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TACGTGCCTTCATCCCCAACG 0.572000 11 13 0 0 0.008291 0 0 NEBL 10529 broad.mit.edu 37 10 21102879 21102879 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:21102879G>A ENST00000377122.4 - 23 2731 c.2335C>T c.(2335-2337)Cat>Tat p.H779Y NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 779 regulation of actin filament length actin binding|structural constituent of muscle p.H779Y(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTGAAATATGATTTTGTGCT 0.388000 21 24 0 0 0.002780 0 0 CFHR3 10878 broad.mit.edu 37 1 196762501 196762501 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:196762501G>A ENST00000367425.4 + 6 943 c.851G>A c.(850-852)gGa>gAa p.G284E CFHR3_ENST00000391985.3_Missense_Mutation_p.G223E NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 AAGTTAAAAGGAAGAAGTGAC 0.259000 14 59 0 0 0.002450 0 0 CBR3 874 broad.mit.edu 37 21 37518652 37518652 + Missense_Mutation SNP T T G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr21:37518652T>G ENST00000290354.5 + 3 957 c.676T>G c.(676-678)Tgc>Ggc p.C226G CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 226 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 GGTGAATGCGTGCTGCCCAGG 0.572000 32 43 0 0 0.012213 0 0 PLCE1 51196 broad.mit.edu 37 10 96028785 96028785 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:96028785C>T ENST00000260766.3 + 17 5015 c.4381C>T c.(4381-4383)Ccc>Tcc p.P1461S PLCE1_ENST00000371375.1_Missense_Mutation_p.P1153S|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1461S|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1153S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1461 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AACCAAGATCCCCTTCAAGGT 0.383000 17 29 0 0 0.006122 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209949040 209949040 + Nonsense_Mutation SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:209949040G>T ENST00000367024.1 + 11 1528 c.1012G>T c.(1012-1014)Gag>Tag p.E338* TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.E338*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000477431.1_Nonsense_Mutation_p.E74*|TRAF3IP3_ENST00000400959.3_Nonsense_Mutation_p.E318*|TRAF3IP3_ENST00000367023.1_Nonsense_Mutation_p.E74* Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 338 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCAGCACAGGGAGCTGGAGAG 0.607000 17 44 2.94398e-08 3.34304e-08 0.007413 1 0 URB2 9816 broad.mit.edu 37 1 229773405 229773405 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:229773405G>A ENST00000258243.2 + 4 3181 c.3045G>A c.(3043-3045)atG>atA p.M1015I NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1015 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TCATCCAAATGAAGCTGAGCT 0.438000 21 52 0 0 0.008871 0 0 ATP2B2 491 broad.mit.edu 37 3 10379942 10379942 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:10379942A>C ENST00000397077.1 - 21 3778 c.3203T>G c.(3202-3204)gTg>gGg p.V1068G ATP2B2_ENST00000360273.2_Missense_Mutation_p.V1113G|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V1113G|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V1099G|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V1068G Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1113 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GATCTCCTCCACGTCCTCGTT 0.632000 18 23 0 0 0.008871 0 0 SEC23A 10484 broad.mit.edu 37 14 39543713 39543713 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:39543713G>A ENST00000537403.1 - 5 1605 c.403C>T c.(403-405)Cga>Tga p.R135* SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R308*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R337*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R211* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 337 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GTAGCAGCTCGATTAGCCAAT 0.348000 37 49 0 0 0.004878 0 0 DNAH5 1767 broad.mit.edu 37 5 13901522 13901522 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:13901522G>A ENST00000265104.4 - 14 1995 c.1891C>T c.(1891-1893)Cgc>Tgc p.R631C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 631 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGAGCTGGCGGGCCCACAAA 0.498000 Kartagener syndrome 11 9 0 0 0.013537 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863655 64863655 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:64863655G>A ENST00000313349.3 - 2 648 c.351C>T c.(349-351)ccC>ccT p.P117P NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 117 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 CGAGGTCGCAGGGGTGGGAGG 0.697000 12 21 0 0 0.003163 0 0 RPS3A 6189 broad.mit.edu 37 4 152025418 152025418 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:152025418T>C ENST00000514682.1 + 5 799 c.542T>C c.(541-543)cTg>cCg p.L181P RPS3A_ENST00000506126.1_Missense_Mutation_p.L181P|RPS3A_ENST00000509736.1_Missense_Mutation_p.L99P|RPS3A_ENST00000274065.4_Missense_Mutation_p.L218P|RPS3A_ENST00000512690.1_3'UTR P61247 RS3A_HUMAN ribosomal protein S3A 218 cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(1)|ovary(1)|pancreas(1) 4 all_hematologic(180;0.093) GTAAAAATGCTGAAGAAGCCC 0.418000 6 14 0 0 0.001168 0 0 OR5H15 403274 broad.mit.edu 37 3 97887590 97887590 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:97887590G>A ENST00000356526.2 + 1 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTTCTCACAGGATTTTTATAT 0.393000 31 49 0 0 0.008740 0 0 FBN3 84467 broad.mit.edu 37 19 8151158 8151158 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:8151158A>T ENST00000600128.1 - 55 7220 c.6806T>A c.(6805-6807)gTc>gAc p.V2269D FBN3_ENST00000601739.1_Missense_Mutation_p.V2269D|FBN3_ENST00000270509.2_Missense_Mutation_p.V2269D Q75N90 FBN3_HUMAN fibrillin 3 2269 EGF-like 37; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGCGGTGTTGACACAGCGGCC 0.642000 44 49 0 0 0.014410 0 0 TRHDE 29953 broad.mit.edu 37 12 73012771 73012771 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:73012771C>T ENST00000261180.4 + 13 2383 c.2287C>T c.(2287-2289)Cct>Tct p.P763S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 763 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGCTCTTTATCCTCTAGATAA 0.363000 17 16 0 0 0.010504 0 0 SRRM2 23524 broad.mit.edu 37 16 2812404 2812404 + Silent SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:2812404T>C ENST00000301740.8 + 11 2424 c.1875T>C c.(1873-1875)tcT>tcC p.S625S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 625 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GGCGCAGATCTAGGACCCGAT 0.602000 23 27 0 0 0.014323 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221708 140221708 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140221708G>A ENST00000531613.1 + 1 802 c.802G>A c.(802-804)Gat>Aat p.D268N PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D268N|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGCTTCTGATCCGGATGA 0.388000 14 19 0 0 0.004007 0 0 KMT2C 58508 broad.mit.edu 37 7 152012382 152012382 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:152012382G>A ENST00000355193.2 - 4 649 c.431C>T c.(430-432)tCc>tTc p.S144F KMT2C_ENST00000262189.6_Missense_Mutation_p.S144F lysine (K)-specific methyltransferase 2C TTGTCCTAAGGAACTTTTTTC 0.378000 18 26 0 0 0.007413 0 0 OBSCN 84033 broad.mit.edu 37 1 228528905 228528905 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:228528905G>A ENST00000570156.2 + 84 20752 c.20678G>A c.(20677-20679)cGa>cAa p.R6893Q OBSCN_ENST00000422127.1_Missense_Mutation_p.R5936Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3055Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5936Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3570Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5936 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AAGCCCCGGCGAGACTCCCGC 0.662000 15 47 0 0 0.004007 0 0 PLA2R1 22925 broad.mit.edu 37 2 160808038 160808038 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:160808038G>A ENST00000283243.7 - 24 3559 c.3353C>T c.(3352-3354)aCc>aTc p.T1118I PLA2R1_ENST00000392771.1_Missense_Mutation_p.T1118I NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1118 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATATTCTAAGGTATTGGGCAT 0.373000 24 13 0 0 0.002780 0 0 PCDHA1 56147 broad.mit.edu 37 5 140168112 140168112 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140168112G>A ENST00000504120.2 + 1 2237 c.2237G>A c.(2236-2238)gGg>gAg p.G746E PCDHA1_ENST00000378133.3_Missense_Mutation_p.G746E|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGTTGGGGAGCTGGTCG 0.652000 14 9 0 0 0.001855 0 0 VPS39 23339 broad.mit.edu 37 15 42479529 42479529 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:42479529G>A ENST00000318006.5 - 7 636 c.474C>T c.(472-474)tcC>tcT p.S158S VPS39_ENST00000348544.4_Silent_p.S169S NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 169 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ACCACGCCATGGACTTGGGCA 0.338000 13 25 0 0 0.004007 0 0 AP5B1 91056 broad.mit.edu 37 11 65546207 65546207 + Missense_Mutation SNP G G T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:65546207G>T ENST00000532090.2 - 2 1967 c.1757C>A c.(1756-1758)gCa>gAa p.A586E NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 529 protein binding lung(1) 1 CCTCACCCCTGCCCGCAGCAG 0.682000 6 10 0.00116845 0.00132176 0.001168 1 0 ARMC4 55130 broad.mit.edu 37 10 28151544 28151544 + Missense_Mutation SNP C C T rs151193419 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:28151544C>T ENST00000305242.5 - 18 2710 c.2618G>A c.(2617-2619)gGg>gAg p.G873E ARMC4_ENST00000537576.1_Missense_Mutation_p.G565E|ARMC4_ENST00000545014.1_Missense_Mutation_p.G398E NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 873 binding p.G873A(1) 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 AACCATTTCCCCAGCATCCTA 0.363000 7 6 0 0 0.001984 0 0 ABCA13 154664 broad.mit.edu 37 7 48545956 48545956 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:48545956A>T ENST00000435803.1 + 49 13340 c.13316A>T c.(13315-13317)tAt>tTt p.Y4439F ABCA13_ENST00000544596.1_Missense_Mutation_p.Y169F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4439 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCCACCCATATGGAGGGGCC 0.478000 22 20 0 0 0.014323 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756848 94756848 + Missense_Mutation SNP G G A rs2232697 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:94756848G>A ENST00000554723.1 - 2 621 c.203C>T c.(202-204)tCg>tTg p.S68L SERPINA10_ENST00000393096.1_Missense_Mutation_p.S28L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28L Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 28 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.S28L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGTCTCTGGCGACTGAGGACT 0.642000 7 11 0 0 0.001984 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723683 140723683 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140723683C>T ENST00000253812.6 + 1 83 c.83C>T c.(82-84)tCc>tTc p.S28F PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.S28Y(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACAGGATCCGGTCAGATC 0.587000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 101 0 0 0.014410 0 0 C9orf64 84267 broad.mit.edu 37 9 86554526 86554526 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:86554526T>C ENST00000376344.3 - 4 1142 c.926A>G c.(925-927)aAt>aGt p.N309S C9orf64_ENST00000314700.1_Missense_Mutation_p.N168S NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 309 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 AAGAATGGAATTGATCTCTCC 0.413000 32 22 0 0 0.008361 0 0 B4GALNT4 338707 broad.mit.edu 37 11 373036 373036 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:373036C>T ENST00000329962.6 + 5 455 c.455C>T c.(454-456)aCc>aTc p.T152I NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 152 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACGCGCACCACCGTGAAGAAG 0.647000 17 31 0 0 0.006122 0 0 ENO2 2026 broad.mit.edu 37 12 7026757 7026757 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:7026757C>T ENST00000535366.1 + 5 949 c.323C>T c.(322-324)gCc>gTc p.A108V ENO2_ENST00000229277.1_Missense_Mutation_p.A108V|ENO2_ENST00000541477.1_Missense_Mutation_p.A108V|ENO2_ENST00000538763.1_Missense_Mutation_p.A65V|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000544774.1_Missense_Mutation_p.A65V P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 108 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AAGTTTGGGGCCAATGCCATC 0.567000 19 47 0 0 0.002780 0 0 PPM1J 333926 broad.mit.edu 37 1 113253973 113253973 + Missense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:113253973A>T ENST00000464951.1 - 7 1751 c.343T>A c.(343-345)Ttc>Atc p.F115I PPM1J_ENST00000309276.6_Missense_Mutation_p.F321I|PPM1J_ENST00000359994.4_Missense_Mutation_p.F115I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.I2N|RP11-426L16.10_ENST00000471038.2_5'UTR Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 321 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGTGGGTGAATTCACTGCCT 0.572000 5 6 0 0 0.001168 0 0 LDB3 11155 broad.mit.edu 37 10 88478537 88478537 + Silent SNP G G A rs150710377 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:88478537G>A ENST00000429277.2 + 12 2071 c.1926G>A c.(1924-1926)gcG>gcA p.A642A LDB3_ENST00000458213.2_Silent_p.A527A|LDB3_ENST00000352360.5_Silent_p.A380A|LDB3_ENST00000263066.6_Silent_p.A527A|LDB3_ENST00000361373.4_Silent_p.A637A NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 637 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TCGTCTGTGCGGCCTGCAAGA 0.572000 45 37 0 0 0.014410 0 0 LRRC7 57554 broad.mit.edu 37 1 70504778 70504778 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:70504778C>T ENST00000310961.5 + 22 3590 c.3172C>T c.(3172-3174)Caa>Taa p.Q1058* LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q1053*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q337* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1053 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACCCCCTTTTCAACACAATCC 0.438000 13 16 0 0 0.001855 0 0 MECOM 2122 broad.mit.edu 37 3 168834174 168834174 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:168834174G>A ENST00000464456.1 - 7 2122 c.922C>T c.(922-924)Cct>Tct p.P308S MECOM_ENST00000494292.1_Missense_Mutation_p.P496S|MECOM_ENST00000472280.1_Missense_Mutation_p.P309S|MECOM_ENST00000264674.3_Missense_Mutation_p.P373S|MECOM_ENST00000392736.3_Missense_Mutation_p.P308S|MECOM_ENST00000468789.1_Missense_Mutation_p.P308S|MECOM_ENST00000433243.2_Missense_Mutation_p.P309S|MECOM_ENST00000460814.1_Missense_Mutation_p.P308S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAGCCGGAAGGAAACAGACCA 0.478000 18 26 0 0 0.007413 0 0 KCNH5 27133 broad.mit.edu 37 14 63316501 63316501 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:63316501C>T ENST00000322893.7 - 8 1707 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q KCNH5_ENST00000394968.1_Missense_Mutation_p.R422Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.R480Q NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 480 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTCATGGTATCGGTTGGTGTT 0.368000 20 21 0 0 0.008871 0 0 NOS1 4842 broad.mit.edu 37 12 117660615 117660615 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:117660615C>T ENST00000317775.6 - 26 4565 c.3880G>A c.(3880-3882)Gat>Aat p.D1294N NOS1_ENST00000338101.4_Missense_Mutation_p.D1328N|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1294 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TAGATATGATCTATCTTGGAT 0.557000 46 57 0 0 0.014410 0 0 USP19 10869 broad.mit.edu 37 3 49148967 49148967 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:49148967G>A ENST00000453664.1 - 21 3465 c.3147C>T c.(3145-3147)tcC>tcT p.S1049S USP19_ENST00000398898.2_Silent_p.S998S|USP19_ENST00000434032.2_Silent_p.S1059S|USP19_ENST00000398896.1_Silent_p.S766S|USP19_ENST00000398892.3_Silent_p.S998S|USP19_ENST00000398888.2_Silent_p.S958S|USP19_ENST00000417901.1_Silent_p.S1061S NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 958 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCTGGCAAGGAGCCAACCT 0.622000 17 3 0 0 0.010504 0 0 UPK3A 7380 broad.mit.edu 37 22 45683325 45683325 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:45683325G>A ENST00000216211.4 + 3 513 c.481G>A c.(481-483)Gag>Aag p.E161K UPK3A_ENST00000396082.2_Intron NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 161 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GGCAGCCACGGAGTACAGGTG 0.602000 8 5 0 0 0.003080 0 0 KRT8 3856 broad.mit.edu 37 12 53291252 53291252 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:53291252C>T ENST00000552551.1 - 9 1844 c.1412G>A c.(1411-1413)gGg>gAg p.G471E KRT8_ENST00000552150.1_Missense_Mutation_p.G499E|KRT8_ENST00000546897.1_Missense_Mutation_p.G471E|KRT8_ENST00000293308.6_Missense_Mutation_p.G471E P05787 K2C8_HUMAN keratin 8 471 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCAGCTTCCCATCACGTGT 0.652000 20 38 0 0 0.014323 0 0 DNAH10 196385 broad.mit.edu 37 12 124315142 124315142 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:124315142G>A ENST00000409039.3 + 25 4112 c.4087G>A c.(4087-4089)Gaa>Aaa p.E1363K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1363 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAAATGACCGAAACGTTCAC 0.383000 12 19 0 0 0.001855 0 0 TRDN 10345 broad.mit.edu 37 6 123539883 123539883 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:123539883G>A ENST00000334268.4 - 40 2346 c.2029C>T c.(2029-2031)Ccc>Tcc p.P677S TRDN_ENST00000398178.3_Missense_Mutation_p.P685S Q13061 TRDN_HUMAN triadin 685 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) AAACTGATGGGACCTAAGGAA 0.473000 3 0 0 0 0.004672 0 0 OR13C9 286362 broad.mit.edu 37 9 107380040 107380040 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:107380040C>T ENST00000259362.1 - 1 445 c.446G>A c.(445-447)tGg>tAg p.W149* NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 CCCTGCAAACCAGGACCCAAC 0.443000 23 34 0 0 0.002780 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589140 140589140 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140589140C>T ENST00000239450.2 + 1 850 c.661C>T c.(661-663)Ccc>Tcc p.P221S PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 221 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGTCCCCTCCCAGGTCTGG 0.507000 16 30 0 0 0.004007 0 0 ASXL3 80816 broad.mit.edu 37 18 31311969 31311969 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:31311969C>T ENST00000269197.5 + 9 917 c.917C>T c.(916-918)gCt>gTt p.A306V NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.A13G(1)|p.A306G(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGTACTTCAGCTCTAAATAAT 0.373000 24 35 0 0 0.008361 0 0 ZMYM5 9205 broad.mit.edu 37 13 20398733 20398733 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:20398733T>C ENST00000337963.4 - 8 2158 c.1894A>G c.(1894-1896)Agt>Ggt p.S632G NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 632 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) tacttaacactattgttgacg 0.299000 4 8 0 0 0.009096 0 0 OR2T5 401993 broad.mit.edu 37 1 248651955 248651955 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:248651955C>T ENST00000366473.2 + 1 71 c.66C>T c.(64-66)ttC>ttT p.F22F NM_001004697.1 NP_001004697.1 Q6IEZ7 OR2T5_HUMAN olfactory receptor, family 2, subfamily T, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2) 9 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGGACTCTTCAGACGATCCA 0.483000 37 131 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179636110 179636110 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179636110G>A ENST00000589042.1 - 34 8168 c.7944C>T c.(7942-7944)tcC>tcT p.S2648S TTN_ENST00000591111.1_Silent_p.S2648S|TTN_ENST00000460472.2_Silent_p.S2602S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.S2602S|TTN_ENST00000360870.5_Silent_p.S2648S|TTN_ENST00000359218.5_Silent_p.S2602S|TTN_ENST00000342992.6_Silent_p.S2648S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2384 Ig-like 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCGCCTTTGGAATCTGGGT 0.493000 33 29 0 0 0.012213 0 0 ADCY10 55811 broad.mit.edu 37 1 167871000 167871000 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:167871000C>T ENST00000367848.1 - 5 557 c.60G>A c.(58-60)ctG>ctA p.L20L ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Silent_p.L112L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 112 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TAATGTTTTTCAGCTGCTTTC 0.498000 36 150 0 0 0.005524 0 0 MATK 4145 broad.mit.edu 37 19 3784157 3784157 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:3784157C>T ENST00000310132.6 - 5 725 c.327G>A c.(325-327)gaG>gaA p.E109E MATK_ENST00000395040.2_Silent_p.E68E|MATK_ENST00000395045.2_Silent_p.E110E|MATK_ENST00000585778.1_Silent_p.E109E NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 109 SH3. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CGGAGAGGGCCTCCCGCTCCC 0.687000 20 24 0 0 0.012319 0 0 KCNQ5 56479 broad.mit.edu 37 6 73751729 73751729 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:73751729G>A ENST00000342056.2 + 3 958 c.560G>A c.(559-561)cGa>cAa p.R187Q KCNQ5_ENST00000355194.4_Missense_Mutation_p.R187Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R187Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 187 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGCTGTTGTCGATATAGAGGA 0.428000 48 6 0 0 0.014410 0 0 PDE1C 5137 broad.mit.edu 37 7 31793104 31793104 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:31793104G>A ENST00000396193.1 - 19 2797 c.2204C>T c.(2203-2205)tCa>tTa p.S735L PDE1C_ENST00000396191.1_Missense_Mutation_p.S675L|PDE1C_ENST00000321453.7_Missense_Mutation_p.S675L NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 675 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTTTGAGACTGAAGGTGCATA 0.453000 42 47 0 0 0.007835 0 0 SCN11A 11280 broad.mit.edu 37 3 38951638 38951638 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:38951638C>T ENST00000302328.3 - 8 1218 c.1020G>A c.(1018-1020)acG>acA p.T340T SCN11A_ENST00000444237.2_Silent_p.T340T|SCN11A_ENST00000450244.1_Silent_p.T340T|SCN11A_ENST00000456224.3_Silent_p.T340T NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 340 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.T340T(1) 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) TGTCAAAATTCGTATAATTAT 0.368000 13 17 0 0 0.013537 0 0 TPO 7173 broad.mit.edu 37 2 1497609 1497609 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:1497609C>T ENST00000345913.4 + 11 1895 c.1804C>T c.(1804-1806)Cgc>Tgc p.R602C TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000497517.2_3'UTR NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 602 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGCCTGCCTCGCCTGGAGAC 0.572000 5 10 0 0 0.000602 0 0 VENTX 27287 broad.mit.edu 37 10 135053586 135053586 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:135053586C>T ENST00000325980.9 + 3 1064 c.553C>T c.(553-555)Cct>Tct p.P185S NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 185 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) GCTGCTGTGCCCTTGGGCACC 0.667000 14 14 0 0 0.004990 0 0 MAP3K13 9175 broad.mit.edu 37 3 185161253 185161253 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:185161253C>T ENST00000265026.3 + 4 1014 c.680C>T c.(679-681)cCa>cTa p.P227L MAP3K13_ENST00000446828.1_Missense_Mutation_p.P20L|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P83L|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P83L|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P227L NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 227 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ACTCAGGCCCCATGTTATTGT 0.378000 13 27 0 0 0.001855 0 0 KIAA0922 23240 broad.mit.edu 37 4 154514996 154514996 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:154514996C>T ENST00000409663.3 + 19 2017 c.1965C>T c.(1963-1965)ttC>ttT p.F655F KIAA0922_ENST00000409959.3_Silent_p.F656F|KIAA0922_ENST00000440693.1_Silent_p.F572F NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 655 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CTGGTGAATTCCAGCTCACCG 0.398000 16 16 0 0 0.010504 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927606 43927606 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:43927606G>A ENST00000282406.4 + 8 1619 c.1509G>A c.(1507-1509)atG>atA p.M503I NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 503 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TAGAGAATATGGACACGAGTT 0.413000 154 187 0 0 0.014410 0 0 OR2K2 26248 broad.mit.edu 37 9 114090649 114090649 + Missense_Mutation SNP C C A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:114090649C>A ENST00000374428.1 - 1 151 c.152G>T c.(151-153)gGg>gTg p.G51V OR2K2_ENST00000302681.1_Missense_Mutation_p.G22V Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 CACTTCTAACCCTGGGTACTG 0.398000 15 24 9.7654e-05 0.000110749 0.007413 1 0 ZNF585B 92285 broad.mit.edu 37 19 37677522 37677522 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:37677522G>A ENST00000532828.2 - 5 1168 c.917C>T c.(916-918)tCc>tTc p.S306F ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S251F|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAATGAAGGATTTGCCACA 0.408000 46 57 0 0 0.014410 0 0 MYH6 4624 broad.mit.edu 37 14 23855654 23855654 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:23855654C>T ENST00000405093.3 - 33 4899 c.4829G>A c.(4828-4830)cGc>cAc p.R1610H MYH6_ENST00000356287.3_Missense_Mutation_p.R1610H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1610 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GACCTCGTTGCGGCTGCGTGT 0.607000 47 57 0 0 0.014410 0 0 LAMB3 3914 broad.mit.edu 37 1 209796404 209796404 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:209796404C>T ENST00000391911.1 - 16 2868 c.2479G>A c.(2479-2481)Ggg>Agg p.G827R LAMB3_ENST00000356082.4_Missense_Mutation_p.G827R|LAMB3_ENST00000367030.3_Missense_Mutation_p.G827R NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 827 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGAAGGCCCCACCGGCCCTG 0.652000 34 95 0 0 0.013726 0 0 LRP1B 53353 broad.mit.edu 37 2 142567932 142567932 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:142567932C>T ENST00000389484.3 - 2 1092 c.121G>A c.(121-123)Gat>Aat p.D41N LRP1B_ENST00000486364.1_5'UTR NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 41 LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCACGTGATCGTGGCAAAGA 0.448000 TSP Lung(27;0.18) 16 11 0 0 0.004007 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995720 57995720 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:57995720G>A ENST00000316770.2 - 1 670 c.628C>T c.(628-630)Ctc>Ttc p.L210F NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GTCAGCACGAGGATGCTCACG 0.627000 12 19 0 0 0.001855 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152222 11152222 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:11152222C>T ENST00000358026.2 + 31 4790 c.4506C>T c.(4504-4506)atC>atT p.I1502I SMARCA4_ENST00000344626.4_Silent_p.I1470I|SMARCA4_ENST00000413806.3_Silent_p.I1440I|SMARCA4_ENST00000589677.1_Silent_p.I1440I|SMARCA4_ENST00000429416.3_Silent_p.I1470I|SMARCA4_ENST00000541122.2_Silent_p.I1440I|SMARCA4_ENST00000450717.3_Silent_p.I1440I|SMARCA4_ENST00000590574.1_Silent_p.I1437I|SMARCA4_ENST00000444061.3_Silent_p.I1437I NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1470 Bromo. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATGCCGTGATCAAGTACAAGG 0.612000 """F, N, Mis""" NSCLC 6 16 0 0 0.001984 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066197 70066197 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:70066197C>T ENST00000446444.1 - 6 1559 c.1551G>A c.(1549-1551)tgG>tgA p.W517* RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 517 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGCAAACTTCCAGAAACAAA 0.403000 31 26 0 0 0.009535 0 0 GRM8 2918 broad.mit.edu 37 7 126086284 126086284 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:126086284G>A ENST00000339582.2 - 10 3381 c.2573C>T c.(2572-2574)gCt>gTt p.A858V GRM8_ENST00000358373.3_Missense_Mutation_p.A858V|GRM8_ENST00000444921.2_Missense_Mutation_p.A858V O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 858 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGTCACCACAGCCTTGAAGCT 0.428000 HNSCC(24;0.065) 42 38 0 0 0.011902 0 0 MLIP 90523 broad.mit.edu 37 6 53989384 53989384 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:53989384C>T ENST00000514921.1 + 3 446 c.333C>T c.(331-333)ttC>ttT p.F111F MLIP_ENST00000358276.5_Silent_p.F105F|MLIP_ENST00000502396.1_Silent_p.F122F|MLIP_ENST00000370877.2_Silent_p.F59F|MLIP_ENST00000274897.5_Silent_p.F111F|MLIP_ENST00000509997.1_Silent_p.F59F|MLIP_ENST00000370876.2_Silent_p.F49F|MLIP_ENST00000511744.1_3'UTR Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 111 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AAAGGGAATTCGAAGCAAACA 0.453000 56 53 0 0 0.014410 0 0 RB1 5925 broad.mit.edu 37 13 48937001 48937001 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr13:48937001C>T ENST00000267163.4 + 8 907 c.769C>T c.(769-771)Cag>Tag p.Q257* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 257 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.Q257fs*12(2)|p.Q257*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGGCGAGGTCAGAACAGGAG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 28 10 0 0 0.005443 0 0 DPYD 1806 broad.mit.edu 37 1 98165083 98165083 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:98165083G>A ENST00000370192.3 - 6 604 c.504C>T c.(502-504)atC>atT p.I168I DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 168 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGATCTGTGGGATACTCATTG 0.383000 37 63 0 0 0.008740 0 0 SH2D7 646892 broad.mit.edu 37 15 78390853 78390853 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:78390853C>T ENST00000328828.5 + 4 560 c.560C>T c.(559-561)tCt>tTt p.S187F SH2D7_ENST00000409568.2_Missense_Mutation_p.S51F NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 187 endometrium(2)|kidney(2)|lung(3) 7 CCCCGCTCTTCTCCAAAGCCC 0.612000 17 23 0 0 0.006122 0 0 RPE65 6121 broad.mit.edu 37 1 68904735 68904735 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:68904735C>T ENST00000262340.5 - 9 941 c.888G>A c.(886-888)agG>agA p.R296R NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 296 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 GGTACTTTTTCCTTTTTTTGT 0.323000 23 37 0 0 0.002780 0 0 CCNT1 904 broad.mit.edu 37 12 49087188 49087188 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:49087188G>A ENST00000261900.3 - 9 2031 c.1809C>T c.(1807-1809)tcC>tcT p.S603S NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 603 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GTGAAGGGAAGGAGAAATTTA 0.488000 20 34 0 0 0.010504 0 0 RHBDD2 57414 broad.mit.edu 37 7 75511190 75511190 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:75511190C>T ENST00000006777.6 + 2 357 c.222C>T c.(220-222)atC>atT p.I74I RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR NM_001040456.1 NP_001035546.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 74 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 AGAATCCCATCTCCCTGCTCT 0.582000 32 59 0 0 0.013726 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98206009 98206009 + RNA SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:98206009T>C ENST00000443455.1 - 0 318 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B GTCTCTCTTATTGGCGTCATA 0.527000 3 7 0 0 0.004672 0 0 TNR 7143 broad.mit.edu 37 1 175328867 175328867 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:175328867G>A ENST00000367674.1 - 15 3563 c.2854_splice c.e15-1 p.A952_splice TNR_ENST00000263525.2_Splice_Site_p.A952_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 952 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTTGTCCATGGCTGAAACAGA 0.478000 10 28 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179641325 179641325 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179641325C>T ENST00000589042.1 - 28 5490 c.5266G>A c.(5266-5268)Gaa>Aaa p.E1756K TTN_ENST00000591111.1_Missense_Mutation_p.E1756K|TTN_ENST00000460472.2_Missense_Mutation_p.E1710K|TTN_ENST00000342175.6_Missense_Mutation_p.E1710K|TTN_ENST00000360870.5_Missense_Mutation_p.E1756K|TTN_ENST00000359218.5_Missense_Mutation_p.E1710K|TTN_ENST00000342992.6_Missense_Mutation_p.E1756K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1509 Ig-like 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACCCAAATTCATTGATCATA 0.468000 27 23 0 0 0.004656 0 0 CILP2 148113 broad.mit.edu 37 19 19655606 19655606 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:19655606C>T ENST00000586018.1 + 8 2372 c.2270C>T c.(2269-2271)cCc>cTc p.P757L CILP2_ENST00000291495.4_Missense_Mutation_p.P751L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 751 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 AAGTTCACCCCCAGCGAGCAG 0.687000 7 16 0 0 0.001984 0 0 WDR7 23335 broad.mit.edu 37 18 54606596 54606596 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:54606596C>T ENST00000254442.3 + 25 4247 c.4036C>T c.(4036-4038)Ctt>Ttt p.L1346F WDR7_ENST00000357574.3_Missense_Mutation_p.L1313F|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1346 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AAAGAAAGGTCTTCAAGAATG 0.299000 16 36 0 0 0.010504 0 0 EPHA10 284656 broad.mit.edu 37 1 38227191 38227191 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:38227191C>T ENST00000373048.4 - 3 735 c.736G>A c.(736-738)Ggg>Agg p.G246R EPHA10_ENST00000427468.2_Missense_Mutation_p.G246R|EPHA10_ENST00000319637.6_Missense_Mutation_p.G246R NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 246 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGGCTCCCCTTCCGAGTGC 0.731000 5 7 0 0 0.001168 0 0 FAR2 55711 broad.mit.edu 37 12 29446289 29446289 + Missense_Mutation SNP T T G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:29446289T>G ENST00000182377.4 + 3 514 c.246T>G c.(244-246)atT>atG p.I82M RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.I82M|FAR2_ENST00000547116.1_5'UTR NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 82 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 TCAGAGCTATTTATGCAGATC 0.368000 30 27 0 0 0.009535 0 0 ATP10A 57194 broad.mit.edu 37 15 25958939 25958939 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:25958939G>A ENST00000356865.6 - 10 2337 c.2226C>T c.(2224-2226)ttC>ttT p.F742F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 742 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F742F(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGACGGAATCGAAACCCAGTG 0.602000 31 22 0 0 0.009535 0 0 SERPINI2 5276 broad.mit.edu 37 3 167184935 167184935 + Missense_Mutation SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:167184935T>C ENST00000476257.1 - 4 684 c.386A>G c.(385-387)gAa>gGa p.E129G SERPINI2_ENST00000461846.1_Missense_Mutation_p.E129G|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E129G|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E129G O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 129 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CTGAAAAAATTCCTTGTTGCC 0.368000 18 22 0 0 0.008871 0 0 CNOT4 4850 broad.mit.edu 37 7 135047860 135047860 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:135047860G>A ENST00000541284.1 - 12 2249 c.1919C>T c.(1918-1920)gCc>gTc p.A640V CNOT4_ENST00000361528.4_Missense_Mutation_p.A566V|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Missense_Mutation_p.A569V|CNOT4_ENST00000451834.1_Missense_Mutation_p.A637V NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 309 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CTCTGTGAGGGCCTGAAGGGA 0.532000 51 61 0 0 0.014410 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106667784 106667784 + RNA SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:106667784C>T ENST00000390606.2 - 0 209 ATGCCATAATCATCAAAGGTG 0.572000 38 96 0 0 0.005524 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425417 74425417 + Silent SNP T T C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:74425417T>C ENST00000429990.1 + 7 867 c.771T>C c.(769-771)acT>acC p.T257T nuclear pore complex interacting protein family, member B15 ATTCTATAACTGATAACTCCC 0.502000 13 33 0 0 0.002450 0 0 CYP2C9 1559 broad.mit.edu 37 10 96748773 96748773 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:96748773C>T ENST00000260682.6 + 9 1473 c.1461C>T c.(1459-1461)ttC>ttT p.F487F NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 487 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGCTGTGCTTCATTCCTGTCT 0.498000 46 48 0 0 0.014410 0 0 CDH18 1016 broad.mit.edu 37 5 19473405 19473405 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:19473405C>T ENST00000507958.1 - 15 3293 c.2303G>A c.(2302-2304)gGa>gAa p.G768E CDH18_ENST00000382275.1_Missense_Mutation_p.G768E|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.G768E Q13634 CAD18_HUMAN cadherin 18, type 2 768 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCCCCAGTCTCCAAGGTAGTG 0.448000 25 30 0 0 0.003954 0 0 NOVA1 4857 broad.mit.edu 37 14 26917300 26917300 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:26917300G>A ENST00000539517.2 - 5 1706 c.1389C>T c.(1387-1389)ttC>ttT p.F463F NOVA1_ENST00000465357.2_Silent_p.F439F|NOVA1_ENST00000267422.7_Silent_p.F341F NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 466 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCCAGGTACGAATTCTCCTT 0.423000 22 18 0 0 0.010504 0 0 ITGB5 3693 broad.mit.edu 37 3 124536491 124536491 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:124536491G>A ENST00000296181.4 - 8 1401 c.1105C>T c.(1105-1107)Caa>Taa p.Q369* ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 369 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) ATAATCAGTTGAATAATATTT 0.438000 10 18 0 0 0.008291 0 0 KDR 3791 broad.mit.edu 37 4 55956127 55956127 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:55956127C>T ENST00000263923.4 - 23 3483 c.3188G>A c.(3187-3189)gGa>gAa p.G1063E RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1063 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACTTACATCTCCTTTTCTGAC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 22 25 0 0 0.003330 0 0 ATP13A5 344905 broad.mit.edu 37 3 193023421 193023421 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:193023421C>T ENST00000342358.4 - 23 2722 c.2605G>A c.(2605-2607)Gag>Aag p.E869K ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 869 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GCTTCCTGCTCTGATAATGAA 0.458000 43 52 0 0 0.011902 0 0 FABP1 2168 broad.mit.edu 37 2 88425737 88425737 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:88425737C>T ENST00000393750.3 - 2 229 c.198G>A c.(196-198)ggG>ggA p.G66G FABP1_ENST00000295834.3_Silent_p.G66G|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 66 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 CACATTCCTCCCCCACCGTGA 0.532000 67 90 0 0 0.014410 0 0 MTFMT 123263 broad.mit.edu 37 15 65297275 65297275 + Splice_Site SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:65297275C>T ENST00000220058.4 - 8 906 c.e8-1 NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) AATTTTGGATCTGAAGAATGG 0.323000 20 24 0 0 0.010504 0 0 CDH18 1016 broad.mit.edu 37 5 19483628 19483628 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:19483628C>T ENST00000507958.1 - 14 2654 c.1664G>A c.(1663-1665)aGa>aAa p.R555K CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R555K|CDH18_ENST00000274170.4_Missense_Mutation_p.R555K|CDH18_ENST00000502796.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 555 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCGACTAAATCTCCTCCGCCT 0.443000 8 15 0 0 0.003080 0 0 ADH1B 125 broad.mit.edu 37 4 100235037 100235037 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr4:100235037C>T ENST00000305046.8 - 6 836 c.769G>A c.(769-771)Gaa>Aaa p.E257K ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 257 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGTCATTTCCTTTAGCACT 0.463000 118 105 0 0 0.014410 0 0 PDE1C 5137 broad.mit.edu 37 7 31815313 31815313 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:31815313G>A ENST00000396193.1 - 18 2698 c.2105C>T c.(2104-2106)cCa>cTa p.P702L PDE1C_ENST00000396191.1_Missense_Mutation_p.P642L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P642L NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 642 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GCTGGTGCTTGGGGCTGGTGA 0.488000 10 15 0 0 0.008291 0 0 BCL2L12 83596 broad.mit.edu 37 19 50172183 50172183 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:50172183C>T ENST00000246785.3 + 4 836 c.578C>T c.(577-579)cCg>cTg p.P193L BCL2L12_ENST00000246784.3_Silent_p.S145S|BCL2L12_ENST00000441864.2_Missense_Mutation_p.P192L NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 193 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGAAATCTCCGCCCAGCCCA 0.577000 13 27 0 0 0.013537 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190956 185190956 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:185190956G>A ENST00000265026.3 + 11 2171 c.1837G>A c.(1837-1839)Gaa>Aaa p.E613K MAP3K13_ENST00000446828.1_Missense_Mutation_p.E406K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E469K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E469K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E613K NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 613 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GCCAGCCCAGGAAAATTCACC 0.532000 94 114 0 0 0.014410 0 0 SPNS2 124976 broad.mit.edu 37 17 4435968 4435968 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:4435968C>T ENST00000329078.3 + 6 1134 c.924C>T c.(922-924)gcC>gcT p.A308A NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 308 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 ATATGAAGGCCCTGATTCGAA 0.612000 15 20 0 0 0.002450 0 0 NXF5 55998 broad.mit.edu 37 X 101097735 101097735 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:101097735C>T ENST00000537026.1 - 3 389 c.30G>A c.(28-30)atG>atA p.M10I NXF5_ENST00000473265.2_Missense_Mutation_p.M10I|NXF5_ENST00000361708.2_Missense_Mutation_p.M10I NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 10 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.M10I(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 ACCATTTCCTCATGTTTTCAT 0.423000 79 5 0 0 0.014410 0 0 PHLPP1 23239 broad.mit.edu 37 18 60608997 60608997 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:60608997C>T ENST00000400316.4 + 11 3252 c.1471C>T c.(1471-1473)Cca>Tca p.P491S PHLPP1_ENST00000262719.5_Missense_Mutation_p.P1003S NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1003 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 AAGCCTTCCTCCAGCCACGCT 0.448000 13 11 0 0 0.003163 0 0 RNF19A 25897 broad.mit.edu 37 8 101282222 101282222 + Nonsense_Mutation SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:101282222A>T ENST00000519449.1 - 5 1219 c.903T>A c.(901-903)tgT>tgA p.C301* RNF19A_ENST00000341084.2_Nonsense_Mutation_p.C301* NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 301 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CACATCGTGGACATGGCTTTA 0.363000 24 29 0 0 0.004656 0 0 MUC16 94025 broad.mit.edu 37 19 9087679 9087679 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:9087679G>A ENST00000397910.4 - 1 4339 c.4136C>T c.(4135-4137)cCg>cTg p.P1379L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1379 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTTGTGGCCGGACTGGTGAG 0.453000 46 32 0 0 0.014410 0 0 FCRL1 115350 broad.mit.edu 37 1 157771832 157771832 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:157771832C>T ENST00000358292.3 - 5 810 c.759G>A c.(757-759)tcG>tcA p.S253S FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.S253S|FCRL1_ENST00000491942.1_Silent_p.S253S NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 253 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGAGGGGGCCGACCTGCTCC 0.582000 23 69 0 0 0.014323 0 0 ANAPC1 64682 broad.mit.edu 37 2 112614438 112614438 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:112614438C>T ENST00000341068.3 - 12 2156 c.1384G>A c.(1384-1386)Gat>Aat p.D462N NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 462 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGGGTTTTATCATTACTCTCT 0.358000 5 21 0 0 0.001168 0 0 COL5A3 50509 broad.mit.edu 37 19 10104324 10104324 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:10104324G>A ENST00000264828.3 - 18 1751 c.1666C>T c.(1666-1668)Cct>Tct p.P556S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 556 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGCAGCCCAGGGAGGCCATCG 0.592000 15 27 0 0 0.002450 0 0 CACNG7 59284 broad.mit.edu 37 19 54445290 54445290 + Splice_Site SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:54445290G>A ENST00000391767.1 + 6 783 c.570_splice c.e6-1 p.G191_splice CACNG7_ENST00000222212.2_Splice_Site_p.G191_splice P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 191 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CTTGCCGCAGGGGGCCGGCGT 0.672000 4 8 0 0 0.000602 0 0 COL5A1 1289 broad.mit.edu 37 9 137657545 137657545 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:137657545G>A ENST00000371817.3 + 21 2467 c.2053G>A c.(2053-2055)Ggg>Agg p.G685R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 685 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGTCTGCTTGGGCCGAAGGG 0.627000 28 45 0 0 0.003755 0 0 MARCH10 162333 broad.mit.edu 37 17 60782887 60782887 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:60782887C>T ENST00000544856.2 - 11 2759 c.2381G>A c.(2380-2382)gGg>gAg p.G794E MARCH10_ENST00000456609.2_Intron|MARCH10_ENST00000311269.5_Intron|MARCH10_ENST00000583600.1_Intron|RP11-156L14.1_ENST00000584597.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 0 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CAGGACTGGCCCCCAAAACCT 0.418000 12 20 0 0 0.003163 0 0 KRT10 3858 broad.mit.edu 37 17 38975078 38975078 + Missense_Mutation SNP G G A rs112018671 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:38975078G>A ENST00000269576.5 - 7 1718 c.1709C>T c.(1708-1710)tCt>tTt p.S570F NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 570 Gly-rich.|Ser-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GGACCCGGAAGAGGAGGACTT 0.632000 9 19 0 0 0.008291 0 0 ABI2 10152 broad.mit.edu 37 2 204231698 204231698 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:204231698C>T ENST00000261016.6 + 2 336 c.5C>T c.(4-6)tCc>tTc p.S2F ABI2_ENST00000422511.2_Silent_p.V72V|ABI2_ENST00000295851.4_Silent_p.V72V|ABI2_ENST00000261017.5_Silent_p.V72V|ABI2_ENST00000424558.1_Silent_p.V72V|ABI2_ENST00000430418.1_Silent_p.V72V Q9NYB9 ABI2_HUMAN abl-interactor 2 0 actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 CCAACAATGTCCTGCAGATGC 0.438000 10 6 0 0 0.010729 0 0 NPBWR2 2832 broad.mit.edu 37 20 62738130 62738130 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:62738130G>A ENST00000369768.1 - 1 394 c.55C>T c.(55-57)Ccc>Tcc p.P19S NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 19 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CCCATCGTGGGGAGGGAGAAG 0.637000 19 55 0 0 0.010504 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586826 42586826 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:42586826G>A ENST00000289957.2 + 5 504 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 126 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CGGCCGCTTCGAAGGCTCCCT 0.507000 14 17 0 0 0.001855 0 0 LOX 4015 broad.mit.edu 37 5 121409775 121409775 + Missense_Mutation SNP A A C TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:121409775A>C ENST00000231004.4 - 4 1267 c.968T>G c.(967-969)tTc>tGc p.F323C LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 323 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TTCAAGACAGAAACTTGCTTT 0.488000 52 75 0 0 0.014410 0 0 PDE8B 8622 broad.mit.edu 37 5 76703223 76703223 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:76703223C>T ENST00000264917.5 + 13 1351 c.1306C>T c.(1306-1308)Cgt>Tgt p.R436C PDE8B_ENST00000342343.4_Missense_Mutation_p.R416C|PDE8B_ENST00000333194.4_Missense_Mutation_p.R436C|PDE8B_ENST00000340978.3_Missense_Mutation_p.R389C|PDE8B_ENST00000346042.3_Missense_Mutation_p.R339C NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 436 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.R436C(1) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCTGCAGAATCGTCGCTATCC 0.592000 91 126 0 0 0.014410 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174815 150174815 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:150174815G>A ENST00000307271.3 + 5 2519 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 649 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.E649K(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AAATGTCCAGGAAATGTCCCA 0.413000 20 24 0 0 0.010504 0 0 FGF3 2248 broad.mit.edu 37 11 69631151 69631151 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:69631151G>A ENST00000334134.2 - 2 351 c.261C>T c.(259-261)gcC>gcT p.A87A NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 87 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) GACCCCTGATGGCCACAATGC 0.627000 32 30 0 0 0.004289 0 0 FRMD3 257019 broad.mit.edu 37 9 85964641 85964641 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr9:85964641C>T ENST00000304195.3 - 4 533 c.327G>A c.(325-327)gtG>gtA p.V109V FRMD3_ENST00000376438.1_Silent_p.V109V NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 109 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GGTAGAATTTCACTCTAAAGC 0.398000 6 9 0 0 0.001984 0 0 KIF22 3835 broad.mit.edu 37 16 29809940 29809940 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:29809940C>T ENST00000561482.1 + 4 854 c.217C>T c.(217-219)Cca>Tca p.P73S KIF22_ENST00000569382.2_Missense_Mutation_p.P73S|KIF22_ENST00000400751.5_Missense_Mutation_p.P73S|KIF22_ENST00000160827.4_Missense_Mutation_p.P141S|KIF22_ENST00000400750.2_5'UTR NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 141 Kinesin-motor. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 GCTGGGCAGCCCAGAGCAACC 0.602000 35 56 0 0 0.005524 0 0 OR52H1 390067 broad.mit.edu 37 11 5565833 5565833 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:5565833G>A ENST00000322653.4 - 1 946 c.921C>T c.(919-921)atC>atT p.I307I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTATCTCTGATCTGCTTGG 0.393000 32 20 0 0 0.010818 0 0 CACNA1E 777 broad.mit.edu 37 1 181549870 181549870 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:181549870C>T ENST00000526775.1 + 6 1074 c.909C>T c.(907-909)ttC>ttT p.F303F CACNA1E_ENST00000358338.5_Silent_p.F254F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.F303F|CACNA1E_ENST00000360108.3_Silent_p.F303F|CACNA1E_ENST00000357570.5_Silent_p.F254F|CACNA1E_ENST00000367570.1_Silent_p.F303F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 303 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGACTGTCTTCCAGTGCATCA 0.542000 16 56 0 0 0.004007 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951123 30951123 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr22:30951123C>T ENST00000402321.1 - 3 1406 c.1089G>A c.(1087-1089)caG>caA p.Q363Q GAL3ST1_ENST00000443111.2_Silent_p.Q363Q|GAL3ST1_ENST00000406361.1_Silent_p.Q363Q|GAL3ST1_ENST00000406955.1_Silent_p.Q363Q|GAL3ST1_ENST00000402369.1_Silent_p.Q363Q|GAL3ST1_ENST00000338911.5_Silent_p.Q363Q|GAL3ST1_ENST00000401975.1_Silent_p.Q363Q Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 363 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GCTGCCAGGGCTGCATGGCCT 0.706000 14 12 0 0 0.003163 0 0 BEST3 144453 broad.mit.edu 37 12 70049327 70049327 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:70049327G>A ENST00000330891.5 - 10 1593 c.1367C>T c.(1366-1368)cCa>cTa p.P456L BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P350L|BEST3_ENST00000488961.1_Missense_Mutation_p.P243L NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 456 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCTTCCTTCTGGGAAGCAGGA 0.592000 25 31 0 0 0.002780 0 0 TPSD1 23430 broad.mit.edu 37 16 1306584 1306584 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:1306584C>T ENST00000211076.3 + 2 298 c.150C>T c.(148-150)ccC>ccT p.P50P TPSD1_ENST00000397534.2_Silent_p.P43P NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 50 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GCAAGTGGCCCTGGCAGGTGA 0.692000 37 35 0 0 0.007835 0 0 MYH8 4626 broad.mit.edu 37 17 10314205 10314205 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr17:10314205G>A ENST00000403437.2 - 15 1570 c.1476C>T c.(1474-1476)ttC>ttT p.F492F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 492 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTGGTGGTTGAAAAACTGTT 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 34 39 0 0 0.004289 0 0 CXorf22 170063 broad.mit.edu 37 X 35993925 35993925 + Missense_Mutation SNP C C T rs141343030 byFrequency TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:35993925C>T ENST00000297866.5 + 15 2674 c.2608C>T c.(2608-2610)Cgg>Tgg p.R870W NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 870 p.R870W(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AACATGTTTTCGGGGGACAGT 0.433000 54 1 0 0 0.014410 0 0 CCDC178 374864 broad.mit.edu 37 18 30873146 30873146 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:30873146C>T ENST00000383096.3 - 12 1335 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K CCDC178_ENST00000402325.1_Missense_Mutation_p.E385K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E385K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E385K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E385K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E385K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E385K coiled-coil domain containing 178 GAATGTAATTCATTTTTTGAT 0.259000 10 7 0 0 0.010729 0 0 SLC26A9 115019 broad.mit.edu 37 1 205888086 205888086 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:205888086C>T ENST00000367135.3 - 19 2251 c.2138G>A c.(2137-2139)gGa>gAa p.G713E SLC26A9_ENST00000367134.2_Missense_Mutation_p.G713E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.G713E NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 713 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AAAGACGCCTCCATGGCTAAT 0.502000 OREG0014164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 317 129 0 0 0.014410 0 0 PDE1A 5136 broad.mit.edu 37 2 183387031 183387031 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:183387031C>T ENST00000435564.1 - 1 273 c.73G>A c.(73-75)Gaa>Aaa p.E25K PDE1A_ENST00000358139.2_Missense_Mutation_p.E25K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E25K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E25K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E25K|PDE1A_ENST00000536095.1_5'UTR NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 25 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CACATTTTTTCAGTCTGTTCT 0.393000 10 20 0 0 0.008291 0 0 MGAM 8972 broad.mit.edu 37 7 141754683 141754683 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:141754683C>T ENST00000475668.2 + 27 3343 c.3289C>T c.(3289-3291)Cgc>Tgc p.R1097C MGAM_ENST00000549489.2_Missense_Mutation_p.R1097C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1097 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R1097C(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATTGAAATTCGCCGGAAGAG 0.498000 17 23 0 0 0.004990 0 0 BCAP29 55973 broad.mit.edu 37 7 107253875 107253875 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr7:107253875C>T ENST00000379119.2 + 6 702 c.688C>T c.(688-690)Cag>Tag p.Q230* BCAP29_ENST00000379121.2_Nonsense_Mutation_p.Q136*|BCAP29_ENST00000465919.1_Nonsense_Mutation_p.Q136*|BCAP29_ENST00000379117.2_Nonsense_Mutation_p.Q230*|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000005259.4_Nonsense_Mutation_p.Q230*|BCAP29_ENST00000445771.2_Nonsense_Mutation_p.Q230* NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 230 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 CTCTGAACTTCAGGTGGGTGT 0.358000 12 16 0 0 0.010729 0 0 CDH8 1006 broad.mit.edu 37 16 61935302 61935302 + Nonsense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:61935302G>A ENST00000577390.1 - 3 1282 c.328C>T c.(328-330)Caa>Taa p.Q110* CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q110*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q110* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 110 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCATTTATTTGAAATATGGTC 0.418000 19 2 0 0 0.007413 0 0 GALNT14 79623 broad.mit.edu 37 2 31189136 31189136 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:31189136G>A ENST00000349752.5 - 3 971 c.332C>T c.(331-333)cCa>cTa p.P111L GALNT14_ENST00000420311.2_Missense_Mutation_p.P76L|GALNT14_ENST00000406653.1_Missense_Mutation_p.P91L|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.P116L NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 111 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GCTAGTGGGTGGAAGGTCCGT 0.572000 9 19 0 0 0.010729 0 0 ENOX2 10495 broad.mit.edu 37 X 129804161 129804161 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:129804161G>A ENST00000338144.3 - 8 976 c.559C>T c.(559-561)Cgc>Tgc p.R187C ENOX2_ENST00000394363.1_Missense_Mutation_p.R158C|ENOX2_ENST00000370935.1_Missense_Mutation_p.R158C|ENOX2_ENST00000370927.1_Missense_Mutation_p.R187C NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 187 RRM. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GAGCCCAGGCGAATGCGGTAA 0.522000 16 0 0 0 0.003163 0 0 FITM2 128486 broad.mit.edu 37 20 42939751 42939751 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:42939751C>T ENST00000396825.3 - 1 58 c.38G>A c.(37-39)gGa>gAa p.G13E NM_001080472.1 NP_001073941.1 Q8N6M3 FITM2_HUMAN fat storage-inducing transmembrane protein 2 13 cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process integral to endoplasmic reticulum membrane endometrium(2)|lung(2)|skin(2) 6 CACCAGCGTTCCCCGCAACAA 0.701000 OREG0025965 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 0.009096 0 0 AGBL2 79841 broad.mit.edu 37 11 47726120 47726120 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:47726120G>A ENST00000525123.1 - 7 846 c.561C>T c.(559-561)gtC>gtT p.V187V AGBL2_ENST00000298861.4_Silent_p.V187V|AGBL2_ENST00000357610.3_Silent_p.V187V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.V149V NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 187 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTTCCTTGATGACCTCACATT 0.413000 23 27 0 0 0.014323 0 0 SELPLG 6404 broad.mit.edu 37 12 109017612 109017612 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:109017612C>T ENST00000388962.3 - 3 601 c.442G>A c.(442-444)Gcc>Acc p.A148T SELPLG_ENST00000550948.1_Missense_Mutation_p.A158T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A174T NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 158 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GCCTCCGTGGCCGTCAGTCGA 0.637000 23 32 0 0 0.003954 0 0 FBLIM1 54751 broad.mit.edu 37 1 16095071 16095071 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:16095071G>A ENST00000375766.3 + 5 1127 c.487G>A c.(487-489)Gag>Aag p.E163K FBLIM1_ENST00000375771.1_Missense_Mutation_p.E163K|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E163K|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 163 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CAGGCCCATGGAGGAAGAGCT 0.657000 12 26 0 0 0.003163 0 0 NLRP10 338322 broad.mit.edu 37 11 7982253 7982253 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:7982253G>A ENST00000328600.2 - 2 1067 c.906C>T c.(904-906)ccC>ccT p.P302P NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 302 NACHT. ATP binding p.P302P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTTTCAGCAAGGGCTCCAGAT 0.547000 46 51 0 0 0.014410 0 0 ENO2 2026 broad.mit.edu 37 12 7026758 7026758 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr12:7026758C>T ENST00000535366.1 + 5 950 c.324C>T c.(322-324)gcC>gcT p.A108A ENO2_ENST00000229277.1_Silent_p.A108A|ENO2_ENST00000541477.1_Silent_p.A108A|ENO2_ENST00000538763.1_Silent_p.A65A|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000544774.1_Silent_p.A65A P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 108 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AGTTTGGGGCCAATGCCATCC 0.572000 19 47 0 0 0.002780 0 0 ZFP41 286128 broad.mit.edu 37 8 144332413 144332413 + Nonsense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:144332413C>T ENST00000330701.4 + 2 769 c.400C>T c.(400-402)Cag>Tag p.Q134* ZFP41_ENST00000522452.1_Nonsense_Mutation_p.Q134*|ZFP41_ENST00000520584.1_Nonsense_Mutation_p.Q134* NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 134 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CACCAAACACCAGAGGACTCA 0.577000 25 37 0 0 0.003330 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100821580 100821580 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:100821580G>A ENST00000268070.4 - 4 748 c.643C>T c.(643-645)Cct>Tct p.P215S NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 215 proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TCCCGCGAAGGCCTGCCCCAC 0.582000 8 7 0 0 0.002450 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956396 128956396 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:128956396C>T ENST00000274487.4 + 9 1691 c.1546C>T c.(1546-1548)Ctt>Ttt p.L516F CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 516 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGGACAGAATCTTGGTGACGT 0.403000 30 36 0 0 0.010818 0 0 TTN 7273 broad.mit.edu 37 2 179650658 179650658 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:179650658C>T ENST00000589042.1 - 14 2511 c.2287G>A c.(2287-2289)Gca>Aca p.A763T TTN_ENST00000591111.1_Missense_Mutation_p.A763T|TTN_ENST00000460472.2_Missense_Mutation_p.A717T|TTN_ENST00000342175.6_Missense_Mutation_p.A717T|TTN_ENST00000360870.5_Missense_Mutation_p.A763T|TTN_ENST00000359218.5_Missense_Mutation_p.A717T|TTN_ENST00000342992.6_Missense_Mutation_p.A763T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 763 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCTTGACTGCTTTAGGGACA 0.493000 22 25 0 0 0.010504 0 0 LGI1 9211 broad.mit.edu 37 10 95557376 95557376 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:95557376C>T ENST00000371418.4 + 8 1750 c.1490C>T c.(1489-1491)tCc>tTc p.S497F LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S449F NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 497 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) AGTGATTACTCCTTTACTCAA 0.393000 21 25 0 0 0.012319 0 0 CDH6 1004 broad.mit.edu 37 5 31323113 31323113 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:31323113G>A ENST00000265071.2 + 12 2336 c.2071G>A c.(2071-2073)Gac>Aac p.D691N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 691 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTACGAAGGGACATTGTGCC 0.498000 14 17 0 0 0.001855 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508700 24508700 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:24508700C>T ENST00000376454.3 + 2 246 c.216C>T c.(214-216)ccC>ccT p.P72P KIAA1217_ENST00000376452.3_Silent_p.P72P|KIAA1217_ENST00000458595.1_Silent_p.P72P|KIAA1217_ENST00000376462.1_5'UTR NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 72 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TAGGGGGGCCCCGAAGTTCCA 0.512000 16 32 0 0 0.004990 0 0 LOXL2 4017 broad.mit.edu 37 8 23225612 23225612 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:23225612C>T ENST00000389131.3 - 2 622 c.253G>A c.(253-255)Gat>Aat p.D85N NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 85 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) AAGTCGTCATCGCACACGGTG 0.642000 18 29 0 0 0.004990 0 0 STOX1 219736 broad.mit.edu 37 10 70645141 70645141 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:70645141C>T ENST00000298596.6 + 3 1672 c.1589C>T c.(1588-1590)cCt>cTt p.P530L STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.P530L|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.P420L NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 530 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 AAGGAAAAGCCTTTCCAAAAG 0.443000 10 7 0 0 0.006214 0 0 GRM1 2911 broad.mit.edu 37 6 146755552 146755552 + Missense_Mutation SNP C C T rs150389935 by1000genomes TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:146755552C>T ENST00000361719.2 + 9 3675 c.3205C>T c.(3205-3207)Ccg>Tcg p.P1069S GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1069S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1069 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTACCCGCCCCCGCCACCTCC 0.697000 21 2 0 0 0.008871 0 0 ELTD1 64123 broad.mit.edu 37 1 79403498 79403498 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:79403498C>T ENST00000370742.3 - 6 817 c.754G>A c.(754-756)Gat>Aat p.D252N NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 252 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTACCTATATCCGTTGAATTT 0.378000 33 41 0 0 0.003755 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664704 160664704 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr6:160664704C>T ENST00000366953.3 - 7 1437 c.1179G>A c.(1177-1179)atG>atA p.M393I SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 393 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TGAGGATGATCATGAAGGCAG 0.532000 26 9 0 0 0.006320 0 0 PAK3 5063 broad.mit.edu 37 X 110366492 110366492 + Missense_Mutation SNP G G A rs150741170 TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chrX:110366492G>A ENST00000519681.1 + 5 603 c.161G>A c.(160-162)gGa>gAa p.G54E PAK3_ENST00000262836.4_Missense_Mutation_p.G54E|PAK3_ENST00000372010.1_Missense_Mutation_p.G54E|PAK3_ENST00000446737.1_Missense_Mutation_p.G54E|PAK3_ENST00000372007.4_Missense_Mutation_p.G54E|PAK3_ENST00000425146.1_Missense_Mutation_p.G54E|PAK3_ENST00000417227.1_Missense_Mutation_p.G54E|PAK3_ENST00000360648.4_Missense_Mutation_p.G54E|PAK3_ENST00000518291.1_Missense_Mutation_p.G54E O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 54 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATCTTCCCAGGAGGAGGGGAT 0.448000 TSP Lung(19;0.15) 31 1 0 0 0.008361 0 0 ARSB 411 broad.mit.edu 37 5 78251203 78251203 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:78251203G>A ENST00000264914.4 - 4 1349 c.813C>T c.(811-813)tcC>tcT p.S271S ARSB_ENST00000565165.1_Silent_p.S271S|ARSB_ENST00000396151.3_Silent_p.S271S NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 271 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CATCCATAAGGGACACCATTC 0.453000 21 26 0 0 0.008871 0 0 SLC33A1 9197 broad.mit.edu 37 3 155560232 155560232 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:155560232G>A ENST00000392845.2 - 2 1332 c.952C>T c.(952-954)Cta>Tta p.L318L SLC33A1_ENST00000359479.3_Silent_p.L318L NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 318 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTGCAGTTAGAATCAGAAGG 0.318000 10 12 0 0 0.008291 0 0 SLC7A2 6542 broad.mit.edu 37 8 17396429 17396429 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr8:17396429C>T ENST00000470360.1 + 3 213 c.96C>T c.(94-96)ctC>ctT p.L32L SLC7A2_ENST00000004531.10_Silent_p.L32L|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.L32L P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 0 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GCAAGTTTCTCCTGTAAGATT 0.403000 14 24 0 0 0.003163 0 0 OR5M1 390168 broad.mit.edu 37 11 56380655 56380655 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:56380655C>T ENST00000526538.1 - 1 323 c.324G>A c.(322-324)gtG>gtA p.V108V NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 ACTCAGTGATCACCAGGGCGA 0.458000 25 32 0 0 0.005443 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525073 150525073 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:150525073G>A ENST00000271643.4 + 4 311 c.75G>A c.(73-75)caG>caA p.Q25Q ADAMTSL4_ENST00000369041.5_Silent_p.Q25Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Q25Q|ADAMTSL4_ENST00000369039.5_Silent_p.Q25Q NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 25 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCTTGGATCAGGAGGTGAGTT 0.622000 33 7 0 0 0.004289 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558451 140558451 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr5:140558451C>T ENST00000239444.2 + 1 1081 c.836C>T c.(835-837)tCc>tTc p.S279F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 279 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S279F(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGATTTCCTATTCACTT 0.413000 28 361 0 0 0.008361 0 0 WDR7 23335 broad.mit.edu 37 18 54363639 54363639 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr18:54363639C>T ENST00000254442.3 + 12 1735 c.1524C>T c.(1522-1524)ttC>ttT p.F508F WDR7_ENST00000357574.3_Silent_p.F508F|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 508 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AACATATCTTCTGTGTTCATG 0.363000 13 31 0 0 0.003163 0 0 CHRD 8646 broad.mit.edu 37 3 184100507 184100507 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr3:184100507G>A ENST00000204604.1 + 8 1173 c.927G>A c.(925-927)gaG>gaA p.E309E CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.E309E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.E309E NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 309 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTGACACAGAGGACTCCTTGC 0.587000 30 34 0 0 0.007291 0 0 OR2T33 391195 broad.mit.edu 37 1 248436940 248436940 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:248436940G>A ENST00000318021.2 - 1 198 c.177C>T c.(175-177)ttC>ttT p.F59F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGCTCAGGAGGAAGTACATGG 0.532000 101 54 0 0 0.014410 0 0 NINL 22981 broad.mit.edu 37 20 25450664 25450664 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr20:25450664C>T ENST00000278886.6 - 18 3389 c.3316G>A c.(3316-3318)Gag>Aag p.E1106K NINL_ENST00000422516.1_Missense_Mutation_p.E757K NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1106 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCTTCAAGCTCTTGCCGAACC 0.502000 59 74 0 0 0.014410 0 0 NEBL 10529 broad.mit.edu 37 10 21185901 21185901 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:21185901C>T ENST00000377122.4 - 2 535 c.139G>A c.(139-141)Gaa>Aaa p.E47K NEBL_ENST00000377119.1_Missense_Mutation_p.E47K|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 47 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTAATGAGTTCCGTGCATTTT 0.358000 30 44 0 0 0.003271 0 0 FAT3 120114 broad.mit.edu 37 11 92523262 92523262 + Missense_Mutation SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr11:92523262G>A ENST00000298047.6 + 7 4506 c.4489G>A c.(4489-4491)Gtt>Att p.V1497I FAT3_ENST00000409404.2_Missense_Mutation_p.V1497I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1347I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1497 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGCTACACTGTTCATAGCAG 0.507000 TCGA Ovarian(4;0.039) 161 162 0 0 0.014410 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120596 41120596 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr15:41120596C>T ENST00000299174.5 - 1 311 c.244G>A c.(244-246)Gag>Aag p.E82K PPP1R14D_ENST00000427255.2_Missense_Mutation_p.E82K NM_017726.7 NP_060196.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 82 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGGAAGAGCTCCTGAACTTGA 0.627000 40 53 0 0 0.006999 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 4 9 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103119958 103119959 + Frame_Shift_Del DEL AT AT - TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr2:103119958_103119959delAT ENST00000295269.4 + 3 1229_1230 c.772_773delAT c.(772-774)afs p.I258fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 258 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ATTTGAAGACATAGAAACTGTC 0.356 15 16 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77142033 77142034 + RNA DEL AC AC - TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr10:77142033_77142034delAC ENST00000418818.2 - 0 142 CACAACAGCAACAAATGTTATT 0.327 4 4 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 2 4 --- --- --- --- ZNF174 7727 broad.mit.edu 37 16 3454662 3454663 + Frame_Shift_Ins INS - - T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr16:3454662_3454663insT ENST00000572544.1 + 2 670_671 c.639_640insT c.(637-642)gctttcfs p.AF213fs ZNF174_ENST00000344823.5_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Intron|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000268655.4_Intron Q15697 ZN174_HUMAN zinc finger protein 174 0 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 AACACTCTGCCTTTTCTCTCCC 0.460 9 20 --- --- --- --- ZNF507 22847 broad.mit.edu 37 19 32845455 32845456 + Frame_Shift_Ins INS - - T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa4d35e3-fc38-4e26-a9e0-521a648acec1 9a345f68-0a6c-433e-91af-1bd41491520c g.chr19:32845455_32845456insT ENST00000311921.3 + 2 1911_1912 c.1719_1720insT c.(1717-1722)gatgtcfs p.V574fs ZNF507_ENST00000544431.1_Frame_Shift_Ins_p.V574fs|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Frame_Shift_Ins_p.V574fs NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GTAGGCAGGAATTGTCAGATGG 0.441 10 23 --- --- --- ---