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 ZNF615 284370 broad.mit.edu 37 19 52497333 52497333 + Silent SNP A A C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:52497333A>C ENST00000602063.1 - 6 1345 c.996T>G c.(994-996)acT>acG p.T332T ZNF615_ENST00000598071.1_Silent_p.T343T|ZNF615_ENST00000391795.3_Silent_p.T337T|ZNF615_ENST00000594083.1_Silent_p.T343T|ZNF615_ENST00000376716.5_Silent_p.T332T Q8N8J6 ZN615_HUMAN zinc finger protein 615 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCTGATGTGTAGTGAGACTGA 0.423000 28 82 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893683 43893683 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:43893683G>C ENST00000450892.2 - 24 4689 c.4612C>G c.(4612-4614)Cta>Gta p.L1538V STRC_ENST00000541030.1_Missense_Mutation_p.L765V NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1538 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CGATCTCCTAGACCTATTAAG 0.537000 9 41 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140439656 140439656 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:140439656C>G ENST00000288602.6 - 17 2143 c.2083G>C c.(2083-2085)Gag>Cag p.E695Q NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 695 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TTGAGGCACTCTGCCATTAAT 0.408000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 29 59 0 0 1 0 0 CD300C 10871 broad.mit.edu 37 17 72541017 72541017 + Missense_Mutation SNP C C T rs143534670 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:72541017C>T ENST00000330793.1 - 2 491 c.131G>A c.(130-132)cGc>cAc p.R44H NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 44 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CTTCTCATAGCGACACTGCAC 0.532000 10 46 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33373216 33373216 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:33373216G>C ENST00000428849.2 + 7 1794 c.1344G>C c.(1342-1344)ctG>ctC p.L448L NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 448 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CTCAGGAGCTGAGTGGTCAGG 0.612000 13 13 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671641 54671641 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:54671641G>A ENST00000332822.4 + 1 582 c.57G>A c.(55-57)ggG>ggA p.G19G NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 19 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) TGGTCCTGGGGCTGCGGGCGA 0.721000 4 19 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2290677 2290677 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:2290677G>A ENST00000585527.1 - 1 1346 c.1099C>T c.(1099-1101)Cgc>Tgc p.R367C LINGO3_ENST00000404279.1_Missense_Mutation_p.R367C P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 367 LRRCT. integral to membrane lung(1)|urinary_tract(1) 2 AGGGTCTTGCGACGCTGCACG 0.697000 9 25 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103043931 103043931 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:103043931C>G ENST00000375735.2 + 35 5599 c.5455C>G c.(5455-5457)Cat>Gat p.H1819D DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1819D|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1819 AAA 1 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGCTATGTCTCATCCAGACAA 0.373000 7 10 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243673 10243673 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:10243673G>C ENST00000418404.3 - 16 2103 c.1940C>G c.(1939-1941)tCt>tGt p.S647C RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S647C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 647 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGTCTGGAAAGAGGAGCCCTT 0.537000 9 33 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841664 5841664 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:5841664C>G ENST00000317037.2 + 1 121 c.99C>G c.(97-99)ttC>ttG p.F33L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGCCATTCTGCTTTATGT 0.557000 32 24 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 9 140 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100246193 100246193 + Missense_Mutation SNP T T C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:100246193T>C ENST00000160382.5 - 7 761 c.655A>G c.(655-657)Atg>Gtg p.M219V NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 219 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCTGCGATCATGTAAGGTGGG 0.587000 4 10 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285781 238285781 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:238285781G>A ENST00000295550.4 - 7 3156 c.2704C>T c.(2704-2706)Ctt>Ttt p.L902F COL6A3_ENST00000346358.4_Missense_Mutation_p.L702F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L701F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L495F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L696F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L295F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L696F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L696F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 902 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCTTCACAAGATTCAGGATC 0.532000 6 32 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372315 175372315 + Missense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:175372315C>A ENST00000367674.2 - 4 1645 c.937G>T c.(937-939)Gtc>Ttc p.V313F TNR_ENST00000263525.2_Missense_Mutation_p.V313F Q92752 TENR_HUMAN tenascin R Cys-rich.|EGF-like 5. 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) TCTTCACAGACGCAGAGCCCC 0.607000 10 51 0.00621372 0.00639865 1 1 0 CUBN 8029 broad.mit.edu 37 10 17113580 17113580 + Nonsense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:17113580C>A ENST00000377833.4 - 19 2535 c.2470G>T c.(2470-2472)Gaa>Taa p.E824* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 824 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGACCCCTTCTCCAGTTAAT 0.398000 10 33 9.70103e-10 1.03597e-09 1 1 0 KDM5B 10765 broad.mit.edu 37 1 202698199 202698199 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:202698199G>A ENST00000367265.3 - 27 5764 c.4600C>T c.(4600-4602)Cgc>Tgc p.R1534C KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570C NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1534 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACAGTACAGCGCACACAGATG 0.478000 23 112 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24668617 24668617 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:24668617G>A ENST00000361548.4 + 9 1290 c.1060G>A c.(1060-1062)Gta>Ata p.V354I GRHL3_ENST00000236255.4_Missense_Mutation_p.V359I|GRHL3_ENST00000350501.5_Missense_Mutation_p.V354I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V308I|GRHL3_ENST00000342072.4_Missense_Mutation_p.V261I NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 354 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GTTCATCGGCGTAAACTGTCT 0.577000 4 151 0 0 1 0 0 TCEB1 6921 broad.mit.edu 37 8 74858903 74858903 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:74858903G>C ENST00000518127.1 - 4 393 c.301C>G c.(301-303)Ctg>Gtg p.L101V TCEB1_ENST00000520242.1_Missense_Mutation_p.L101V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.L101V|TCEB1_ENST00000523815.1_Missense_Mutation_p.L101V|TCEB1_ENST00000520210.1_Missense_Mutation_p.L85V|TCEB1_ENST00000522337.1_Missense_Mutation_p.L101V|TCEB1_ENST00000284811.8_Missense_Mutation_p.L101V NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1 NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1 Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 101 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|kidney(3)|lung(1)|prostate(1) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) AGCAGTTCCAGTGCAATTTCA 0.358000 7 52 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95556054 95556054 + Splice_Site SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:95556054C>G ENST00000297591.5 - 2 255 c.e2+1 KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGTTGACTTACCCATATGCTC 0.348000 26 116 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44352230 44352230 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:44352230G>A ENST00000324461.7 + 7 1774 c.1477G>A c.(1477-1479)Gga>Aga p.G493R ZNF283_ENST00000588797.1_Missense_Mutation_p.G354R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAAGAATGCGGAAAGACCTT 0.408000 45 71 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926753 45926753 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:45926753C>T ENST00000395629.2 + 11 2316 c.1986C>T c.(1984-1986)caC>caT p.H662H MAPK8IP1_ENST00000241014.2_Silent_p.H672H Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 672 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) TTGCCTGCCACGTCTTTGTGT 0.642000 12 37 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48630553 48630553 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:48630553C>T ENST00000328333.8 - 5 771 c.664G>A c.(664-666)Gtg>Atg p.V222M COL7A1_ENST00000454817.1_Missense_Mutation_p.V222M NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 222 Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCACAGGCACGCCACCAGCA 0.577000 9 45 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893596 43893596 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:43893596G>C ENST00000450892.2 - 24 4776 c.4699C>G c.(4699-4701)Cag>Gag p.Q1567E STRC_ENST00000541030.1_Missense_Mutation_p.Q794E NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1567 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGTGTTACCTGAGTGGTGCTC 0.527000 6 21 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153539296 153539296 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chrX:153539296G>C ENST00000369915.3 + 4 649 c.460G>C c.(460-462)Gat>Cat p.D154H TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.D98H NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 154 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCAATCTTTGATGTGAACCG 0.522000 13 10 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180063284 180063284 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:180063284G>C ENST00000367607.3 + 34 8462 c.8044G>C c.(8044-8046)Gaa>Caa p.E2682Q CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2682 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CATCGCTGCAGAAGATGACAC 0.418000 21 11 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002908 58002908 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:58002908G>C ENST00000548198.1 + 5 2521 c.1017G>C c.(1015-1017)ctG>ctC p.L339L DTX3_ENST00000548804.1_Silent_p.L339L|DTX3_ENST00000337737.3_Silent_p.L339L|DTX3_ENST00000551632.1_Silent_p.L342L Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 339 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) AAGAGGAGCTGAGAGCGAAGG 0.547000 21 144 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180063132 180063132 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:180063132G>C ENST00000367607.3 + 34 8310 c.7892G>C c.(7891-7893)aGa>aCa p.R2631T CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2631 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AATAGAAGTAGAAGCCTTAAA 0.388000 20 15 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51207834 51207834 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:51207834G>A ENST00000262053.3 + 5 392 c.370G>A c.(370-372)Ggc>Agc p.G124S ATF1_ENST00000539132.1_5'UTR NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 124 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 GGCAAGTCCAGGCACAGATGG 0.403000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 23 45 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127578 152127578 + Missense_Mutation SNP A A G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:152127578A>G ENST00000316073.3 - 3 2061 c.1997T>C c.(1996-1998)aTc>aCc p.I666T NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 666 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTCTTGTTGGATTTGTGCTAA 0.527000 11 69 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13415230 13415230 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:13415230G>A ENST00000254508.5 - 12 1657 c.1575C>T c.(1573-1575)ttC>ttT p.F525F NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 525 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TCATCTCACCGAAATGGAGTG 0.577000 16 20 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39555049 39555049 + Nonsense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr14:39555049G>A ENST00000537403.1 - 3 1341 c.139C>T c.(139-141)Cga>Tga p.R47* SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R220*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R249*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R123* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 249 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) CAAGGGTCTCGCTGGAGTTCT 0.438000 18 54 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171753505 171753505 + Missense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:171753505G>T ENST00000361735.3 + 2 1045 c.779G>T c.(778-780)cGc>cTc p.R260L METTL13_ENST00000458517.1_Missense_Mutation_p.R259L|METTL13_ENST00000362019.3_Missense_Mutation_p.R174L|METTL13_ENST00000367737.5_Intron NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 260 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 AGCCAGCTGCGCCGCAAGGCC 0.677000 6 31 0.0215528 0.0219331 1 1 0 TOMM20L 387990 broad.mit.edu 37 14 58874151 58874151 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr14:58874151G>A ENST00000360945.2 + 4 412 c.370G>A c.(370-372)Gag>Aag p.E124K RP11-517O13.1_ENST00000556734.1_RNA NM_207377.2 NP_997260.1 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast)-like 124 protein targeting integral to membrane|mitochondrial outer membrane translocase complex large_intestine(2)|lung(2) 4 CAAGGTATTTGAGATGCTGTT 0.418000 21 46 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149931146 149931146 + Missense_Mutation SNP T T C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chrX:149931146T>C ENST00000445323.2 + 16 2087 c.1966T>C c.(1966-1968)Tct>Cct p.S656P MTMR1_ENST00000370390.3_Missense_Mutation_p.S648P|MTMR1_ENST00000541925.1_Missense_Mutation_p.S554P|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.S648P Q13613 MTMR1_HUMAN myotubularin related protein 1 648 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CTCATCCTCATCTGAGCGGGG 0.677000 17 4 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62631383 62631383 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:62631383G>A ENST00000337910.5 - 11 2285 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R650C|RHOBTB1_ENST00000490827.1_5'UTR NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 650 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) GGGGGCCAGCGGTGCCGCTCG 0.488000 11 24 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632505 158632505 + Silent SNP A A T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:158632505A>T ENST00000368147.4 - 17 2631 c.2451T>A c.(2449-2451)acT>acA p.T817T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGTAGGTGGAAGTAGCTGAGG 0.498000 30 37 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104189818 104189818 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:104189818G>A ENST00000374855.4 - 5 610 c.486C>T c.(484-486)ctC>ctT p.L162L ALDOB_ENST00000468981.3_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 162 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CCTGGATAGCGAGGCTGGATG 0.557000 10 32 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38980855 38980855 + Missense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:38980855G>T ENST00000355481.4 + 36 6085 c.5954G>T c.(5953-5955)aGc>aTc p.S1985I RYR1_ENST00000359596.3_Missense_Mutation_p.S1985I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1985I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1985 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAAGCCTTCAGCATGACCGCA 0.602000 3 18 0.115264 0.115934 1 1 0 USP8 9101 broad.mit.edu 37 15 50773861 50773861 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:50773861G>A ENST00000433963.1 + 12 1902 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K USP8_ENST00000307179.4_Missense_Mutation_p.E468K|USP8_ENST00000396444.3_Missense_Mutation_p.E468K|USP8_ENST00000425032.3_Missense_Mutation_p.E391K P40818 UBP8_HUMAN ubiquitin specific peptidase 8 468 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TATTCATGCAGAAACTGCTCT 0.398000 14 31 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70432372 70432372 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:70432372G>A ENST00000393640.4 - 1 2169 c.62C>T c.(61-63)tCc>tTc p.S21F ST3GAL2_ENST00000342907.2_Missense_Mutation_p.S21F|RP11-529K1.4_ENST00000566960.1_RNA Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 21 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) GAAGAGCAGGGACATGATGAA 0.647000 25 13 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991815 21991815 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr14:21991815C>T ENST00000327430.3 - 2 2341 c.2047G>A c.(2047-2049)Gcc>Acc p.A683T SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.A546T|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 683 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GCTGGACTGGCCTTGTGGCCC 0.577000 11 25 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27216278 27216278 + Missense_Mutation SNP C C A rs150818020 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:27216278C>A ENST00000374135.4 - 1 510 c.310G>T c.(310-312)Ggc>Tgc p.G104C NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 104 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 AAGTAGTGGCCGCGGAGGGGG 0.667000 11 62 1.58986e-06 1.66695e-06 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 40 0 0 1 0 0 TRGV9 6983 broad.mit.edu 37 7 38357047 38357047 + RNA SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:38357047C>T ENST00000444775.2 - 0 1415 AAACTACTTACGAGCCCCAAG 0.448000 5 18 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107669583 107669583 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:107669583C>T ENST00000388781.3 - 33 5134 c.5051G>A c.(5050-5052)gGa>gAa p.G1684E LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1684E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1684E NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1684 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTTTGTTAGTCCTGTAGTGCT 0.363000 7 60 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134363330 134363330 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:134363330G>A ENST00000357304.4 + 27 6127 c.6072G>A c.(6070-6072)gcG>gcA p.A2024A PRRC2B_ENST00000372249.1_Silent_p.A121A|PRRC2B_ENST00000458550.1_Silent_p.A1330A|PRRC2B_ENST00000405995.1_Silent_p.A1330A NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2024 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CATACTCGGCGTTCCCAGGCA 0.617000 7 17 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19478199 19478199 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chrX:19478199C>T ENST00000338883.4 - 5 791 c.792G>A c.(790-792)gcG>gcA p.A264A MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.A96A|MAP3K15_ENST00000359173.3_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 264 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTAGCTCCTTCGCCAGTTCCT 0.423000 5 6 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42736437 42736437 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:42736437C>T ENST00000263805.4 - 6 3641 c.3315G>A c.(3313-3315)ctG>ctA p.L1105L ZNF106_ENST00000565611.1_Silent_p.L290L|ZNF106_ENST00000565380.1_Silent_p.L333L NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 TATGGGTCCTCAGTGCACTCA 0.378000 10 70 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92032412 92032412 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:92032412C>T ENST00000285419.3 - 3 649 c.335G>A c.(334-336)cGg>cAg p.R112Q NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 112 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) TCCTATTCGCCGAGATGTGTC 0.378000 12 105 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23406144 23406144 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:23406144C>T ENST00000400181.4 + 18 2258 c.2154C>T c.(2152-2154)ttC>ttT p.F718F KDM1A_ENST00000542151.1_Silent_p.F718F|KDM1A_ENST00000356634.3_Silent_p.F694F|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 694 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCTTCCTCTTCTGGAACCTCT 0.398000 12 45 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138461453 138461453 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:138461453C>T ENST00000477593.1 - 4 641 c.568G>A c.(568-570)Gat>Aat p.D190N PIK3CB_ENST00000289153.2_Missense_Mutation_p.D190N P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 190 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAAAGTTTATCTTCTAAGTTT 0.358000 12 98 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159606644 159606644 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:159606644G>A ENST00000337808.6 + 6 1807 c.1230G>A c.(1228-1230)atG>atA p.M410I IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.M178I|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.M486I|SCHIP1_ENST00000482804.1_Missense_Mutation_p.M183I|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.M459I|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.M397I|SCHIP1_ENST00000445224.2_Missense_Mutation_p.M167I|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.M370I NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 410 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AATGCTTGATGAAAAGAAGTT 0.418000 18 117 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 4 105 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47703968 47703968 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:47703968C>T ENST00000254480.5 - 20 2133 c.2014G>A c.(2014-2016)Gag>Aag p.E672K SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 672 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCTGAATTCTCAAGGTATGGG 0.468000 13 44 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100832242 100832242 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:100832242C>T ENST00000358544.2 + 49 9072 c.8961C>T c.(8959-8961)ccC>ccT p.P2987P VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P2962P NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2987 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) AACTTCTGCCCTGGGCCCTGC 0.438000 72 227 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68620595 68620595 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:68620595C>T ENST00000423218.2 - 16 2002 c.1907G>A c.(1906-1908)cGc>cAc p.R636H ITGA11_ENST00000315757.7_Missense_Mutation_p.R636H Q9UKX5 ITA11_HUMAN integrin, alpha 11 636 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AACCACTGGGCGGGACCTGGA 0.602000 18 17 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19735409 19735409 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:19735409C>G ENST00000396085.1 + 1 529 c.168C>G c.(166-168)atC>atG p.I56M NAV2_ENST00000396087.3_Missense_Mutation_p.I56M|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.I56M NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 56 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CTAGCCAGATCCCCCTGAAAT 0.677000 3 16 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43896317 43896317 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:43896317G>C ENST00000450892.2 - 22 4329 c.4252C>G c.(4252-4254)Cta>Gta p.L1418V STRC_ENST00000541030.1_Missense_Mutation_p.L645V NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1418 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTTTTCTAGAAGCCGCTCC 0.577000 11 13 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884726 228884726 + Nonsense_Mutation SNP T T A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:228884726T>A ENST00000392056.3 - 7 890 c.844A>T c.(844-846)Aaa>Taa p.K282* SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K282* NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 282 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGTTCTGTTTTAATCAATGGT 0.443000 27 125 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31582555 31582555 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr14:31582555C>G ENST00000399332.1 - 33 6480 c.5992G>C c.(5992-5994)Gaa>Caa p.E1998Q HECTD1_ENST00000553700.1_Missense_Mutation_p.E1998Q NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1998 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGGACATCTTCTACTCCACAA 0.403000 36 92 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131346793 131346793 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:131346793C>G ENST00000372739.3 + 17 2536 c.2426C>G c.(2425-2427)tCt>tGt p.S809C SPTAN1_ENST00000358161.5_Missense_Mutation_p.S809C|SPTAN1_ENST00000372731.4_Missense_Mutation_p.S809C NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 809 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ATTGCCGCATCTACCAACAGA 0.542000 9 24 0 0 1 0 0 HSD17B11 51170 broad.mit.edu 37 4 88312141 88312141 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr4:88312141G>C ENST00000358290.4 - 1 397 c.82C>G c.(82-84)Cct>Gct p.P28A HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28A NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 28 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) CTCCTCTTAGGAATAAAAAGC 0.468000 11 27 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195000152 195000152 + Nonsense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:195000152C>A ENST00000326793.6 - 23 2472 c.2242G>T c.(2242-2244)Gaa>Taa p.E748* ACAP2_ENST00000472860.1_5'UTR NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 748 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TGATAAGTTTCATCACCTGCA 0.274000 7 54 0.00198382 0.00205509 1 1 0 IP6K2 51447 broad.mit.edu 37 3 48728794 48728794 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:48728794G>A ENST00000328631.5 - 4 773 c.550C>T c.(550-552)Cac>Tac p.H184Y NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 184 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 TGTTGCTGGTGACATTTCATG 0.428000 28 131 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161143666 161143666 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:161143666C>T ENST00000319769.5 - 5 885 c.663G>A c.(661-663)atG>atA p.M221I PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M221I|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 221 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CAAACTTGTTCATAGCAACGG 0.547000 9 68 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38121296 38121296 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:38121296C>T ENST00000395867.3 - 6 1537 c.987G>A c.(985-987)gtG>gtA p.V329V ZNF248_ENST00000357328.4_Silent_p.V329V|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TTTTGTCACTCACTTTATATT 0.358000 16 70 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 69 0 0 1 0 0 NFX1 4799 broad.mit.edu 37 9 33318788 33318788 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:33318788G>A ENST00000379540.3 + 8 1710 c.1648G>A c.(1648-1650)Gat>Aat p.D550N NFX1_ENST00000379521.4_Missense_Mutation_p.D550N|NFX1_ENST00000318524.6_Missense_Mutation_p.D550N NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 550 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) AGGAAAGTCTGATGGATTTGG 0.373000 31 78 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29222308 29222308 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:29222308C>T ENST00000379558.4 + 4 752 c.401C>T c.(400-402)tCa>tTa p.S134L FAM179A_ENST00000403861.2_Missense_Mutation_p.S134L NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 134 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGAGGCTCTCAGAGGGCTTG 0.642000 6 6 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175902 79175902 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr13:79175902G>A ENST00000377208.5 - 2 1119 c.908C>T c.(907-909)tCa>tTa p.S303L RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 303 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) CTGGCTGAGTGAGCCCACGCC 0.667000 12 19 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41782168 41782168 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:41782168G>A ENST00000392006.3 + 5 924 c.751G>A c.(751-753)Ggg>Agg p.G251R HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G251R|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G151R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G151R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G208R|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G162R|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G151R NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 251 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TGCCAGCTATGGGGTCAGAAG 0.547000 16 81 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315676 40315676 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:40315676G>C ENST00000264661.3 - 13 2757 c.2425C>G c.(2425-2427)Cag>Gag p.Q809E KCNH4_ENST00000607371.1_Missense_Mutation_p.Q809E NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 809 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ATGAGAAGCTGAGGGGGCTTC 0.652000 5 13 0 0 1 0 0 RP4-583P15.15 0 broad.mit.edu 37 20 62340429 62340429 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr20:62340429G>A ENST00000490623.2 + 1 214 c.214G>A c.(214-216)Gtg>Atg p.V72M ZGPAT_ENST00000328969.5_Missense_Mutation_p.R166H|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000448100.2_Missense_Mutation_p.R166H|ZGPAT_ENST00000369967.3_Missense_Mutation_p.R166H|ZGPAT_ENST00000355969.6_Missense_Mutation_p.R166H|ZGPAT_ENST00000357119.4_Missense_Mutation_p.R166H GCGGGTGTCCGTGTGCTTTAC 0.587000 4 97 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761717 92761717 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:92761717C>T ENST00000318238.4 - 5 4784 c.3568G>A c.(3568-3570)Gac>Aac p.D1190N SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1190N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1190N NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1190 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTATACATGTCATATCGTCTC 0.393000 32 159 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67166812 67166812 + Nonsense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:67166812G>T ENST00000219139.3 + 6 636 c.448G>T c.(448-450)Gag>Tag p.E150* C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.E150* NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 150 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TCCAAAGTATGAGGTTAGCCC 0.483000 29 226 3.99451e-17 4.34623e-17 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129465190 129465190 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:129465190G>C ENST00000421865.2 + 5 833 c.784G>C c.(784-786)Gac>Cac p.D262H NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 262 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGCTCACAAAGACCCAAGAGA 0.403000 20 31 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10906959 10906959 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr21:10906959C>G ENST00000298232.7 - 23 1915 c.1548G>C c.(1546-1548)gaG>gaC p.E516D TPTE_ENST00000361285.4_Missense_Mutation_p.E534D|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E496D NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 534 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAAAGTATCTCCACGGCAA 0.363000 5 63 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160755292 160755292 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:160755292G>C ENST00000263636.4 - 2 400 c.373C>G c.(373-375)Ctg>Gtg p.L125V LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L125V|LY75_ENST00000554112.1_Missense_Mutation_p.L125V|LY75_ENST00000553424.1_Missense_Mutation_p.L125V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L125V NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CCATCCTTCAGAGCCAGCCGG 0.517000 12 42 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90368471 90368471 + Missense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:90368471C>A ENST00000369393.3 - 89 14994 c.14879G>T c.(14878-14880)gGa>gTa p.G4960V MDN1_ENST00000428876.1_Missense_Mutation_p.G4960V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4960 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTCATCAGCTCCTGTGTCCAT 0.532000 31 107 1.08312e-15 1.17112e-15 1 1 0 SMARCB1 6598 broad.mit.edu 37 22 24175856 24175856 + Nonsense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr22:24175856G>T ENST00000344921.6 + 8 1318 c.1111G>T c.(1111-1113)Gag>Tag p.E371* SMARCB1_ENST00000263121.7_Nonsense_Mutation_p.E362*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.E316*|SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.E353* Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 362 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CGCTGAGATGGAGAAGAAGAT 0.632000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 31 11 2.42023e-17 2.65e-17 1 1 0 ETV7 51513 broad.mit.edu 37 6 36343676 36343676 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:36343676G>A ENST00000339796.5 - 3 1124 c.279C>T c.(277-279)gaC>gaT p.D93D ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.D93D|ETV7_ENST00000340181.4_Silent_p.D93D|ETV7_ENST00000373738.1_Intron NM_001207035.1 NP_001193964.1 Q9Y603 ETV7_HUMAN ets variant 7 93 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 GCCGGAAGTCGTCCTTGGTGA 0.652000 12 60 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155408566 155408566 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:155408566G>A ENST00000368346.3 - 5 6019 c.5380C>T c.(5380-5382)Cat>Tat p.H1794Y ASH1L_ENST00000392403.3_Missense_Mutation_p.H1794Y Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1794 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.H1794delH(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTCTTGATATGATGGGGGGAA 0.433000 91 59 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265358 25265358 + Missense_Mutation SNP T T A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr13:25265358T>A ENST00000218548.6 + 8 1389 c.1056T>A c.(1054-1056)aaT>aaA p.N352K ATP12A_ENST00000381946.3_Missense_Mutation_p.N346K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 346 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTGTGGCCAATGTGCCCGAGG 0.572000 14 31 0 0 1 0 0 C12orf68 387856 broad.mit.edu 37 12 48578220 48578220 + Silent SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:48578220C>G ENST00000316554.3 + 1 855 c.315C>G c.(313-315)gtC>gtG p.V105V NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 105 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 TGGGCGTGGTCGGCGGCAAGG 0.682000 4 8 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641867 94641867 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:94641867G>A ENST00000258526.4 + 13 2826 c.2577G>A c.(2575-2577)ctG>ctA p.L859L NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 859 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACACAGAACTGGAAGTGAAAA 0.493000 9 33 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95743972 95743972 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr5:95743972G>C ENST00000311106.3 - 9 1388 c.1151C>G c.(1150-1152)tCt>tGt p.S384C PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S337C NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 384 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGGTGCAGAGGCCGAGGT 0.542000 3 17 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32145937 32145937 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:32145937G>C ENST00000295065.5 - 4 564 c.255C>G c.(253-255)ctC>ctG p.L85L MEMO1_ENST00000426310.2_Silent_p.L62L|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Silent_p.L88L|MEMO1_ENST00000404530.1_Silent_p.L85L|DPY30_ENST00000446765.1_5'UTR NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) CACATCGAGAGAGGGGCACAT 0.383000 9 41 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439656 150439656 + Missense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:150439656G>T ENST00000358647.3 + 3 796 c.429G>T c.(427-429)atG>atT p.M143I GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGGGGCCATGAGACATGTGG 0.572000 27 68 9.04412e-07 9.54044e-07 1 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64580109 64580109 + Splice_Site SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:64580109C>G ENST00000498707.1 - 28 4523 c.4181G>C c.(4180-4182)tGc>tCc p.C1394S ADAMTS9_ENST00000295903.4_Splice_Site_p.C1366S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1394 TSP type-1 10. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGCTTAGTGCACTGGAAGAA 0.428000 23 159 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 5 140 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28841303 28841303 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr13:28841303G>A ENST00000399613.1 + 10 1108 c.1045G>A c.(1045-1047)Gta>Ata p.V349I PAN3_ENST00000282391.5_Missense_Mutation_p.V237I|PAN3_ENST00000380958.3_Missense_Mutation_p.V549I Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 549 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) CTCAAATATCGTAACTTTGCG 0.388000 25 144 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195480015 195480015 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:195480015G>A ENST00000463781.3 - 20 15874 c.15415C>T c.(15415-15417)Ctg>Ttg p.L5139L MUC4_ENST00000346145.4_Silent_p.L903L|MUC4_ENST00000475231.1_Silent_p.L5087L|MUC4_ENST00000349607.4_Silent_p.L852L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1896 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGACAGCCCAGAGTCTGGGAG 0.567000 89 44 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115146886 115146886 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr5:115146886C>G ENST00000250535.4 - 3 931 c.375G>C c.(373-375)ttG>ttC p.L125F CDO1_ENST00000502631.1_5'UTR NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 125 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) GGTTTTCCCTCAAGACTCTTT 0.393000 57 64 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10357086 10357086 + Silent SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:10357086G>T ENST00000255381.2 - 23 2918 c.2808C>A c.(2806-2808)atC>atA p.I936I RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 936 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 GCTCAGCATTGATCTCTTCCT 0.438000 35 143 5.59293e-11 6.00979e-11 1 1 0 CRIM1 51232 broad.mit.edu 37 2 36704049 36704049 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:36704049G>A ENST00000280527.2 + 6 1376 c.1009G>A c.(1009-1011)Gta>Ata p.V337I NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 337 VWFC 1. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GCCAGCCTGCGTATTTAACAA 0.413000 24 67 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132625524 132625524 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:132625524G>A ENST00000397333.3 - 9 1330 c.1292C>T c.(1291-1293)tCa>tTa p.S431L NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 431 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CAGAGTAGCTGAGAAGAGCAG 0.617000 14 40 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 376879 376879 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr20:376879G>A ENST00000217233.3 + 4 1175 c.622G>A c.(622-624)Gtg>Atg p.V208M TRIB3_ENST00000422053.2_Missense_Mutation_p.V235M NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 208 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GGACTCCTGCGTGCTGACTGG 0.612000 23 21 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34313052 34313052 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr20:34313052C>T ENST00000361162.6 - 7 826 c.442G>A c.(442-444)Gag>Aag p.E148K RBM39_ENST00000528062.3_Missense_Mutation_p.E126K|RBM39_ENST00000253363.6_Missense_Mutation_p.E148K|RBM39_ENST00000407261.4_5'UTR NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 148 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TCTCTTTCCTCAGGAGTTAAA 0.313000 14 59 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516426 138516426 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:138516426G>A ENST00000371763.1 - 5 601 c.348C>T c.(346-348)gaC>gaT p.D116D NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 116 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TGAAGAAGGCGTCCACCATGA 0.532000 28 40 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237300714 237300714 + Splice_Site SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:237300714C>G ENST00000409907.3 - 11 1592 c.1318G>C c.(1318-1320)Gtt>Ctt p.V440L IQCA1_ENST00000309507.5_Splice_Site_p.V436L|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Splice_Site_p.V399L NM_024726.4 NP_079002.3 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 440 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 AACTCATCAACCTAGGAGAAT 0.383000 9 51 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196778475 196778475 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:196778475C>T ENST00000346964.2 - 25 2836 c.2647G>A c.(2647-2649)Gaa>Aaa p.E883K DLG1_ENST00000419354.1_Missense_Mutation_p.E861K|DLG1_ENST00000450955.1_Missense_Mutation_p.E850K|DLG1_ENST00000392382.2_Missense_Mutation_p.E828K|DLG1_ENST00000448528.2_Missense_Mutation_p.E861K|DLG1_ENST00000357674.4_Missense_Mutation_p.E850K|DLG1_ENST00000443183.1_Missense_Mutation_p.E757K|DLG1_ENST00000452595.1_Missense_Mutation_p.E745K|DLG1_ENST00000422288.1_Missense_Mutation_p.E810K|DLG1_ENST00000314062.3_Missense_Mutation_p.E810K NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 861 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding p.E883Q(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) AACTCCTGTTCCAGTTTCATG 0.378000 7 66 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203653659 203653659 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:203653659G>C ENST00000392237.2 - 12 1294 c.1137C>G c.(1135-1137)ctC>ctG p.L379L ICA1L_ENST00000358299.2_Silent_p.L379L NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 379 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTGGGATGTGAGACTGGCAC 0.498000 9 44 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25455076 25455076 + RNA SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:25455076G>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 GGTCAATGATGAGAACCTTAT 0.507000 62 344 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10357039 10357039 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:10357039G>A ENST00000255381.2 - 23 2965 c.2855C>T c.(2854-2856)tCa>tTa p.S952L RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 952 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 CTTGAGCTCTGAACATTCATC 0.443000 38 134 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37564958 37564958 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:37564958C>T ENST00000300651.6 - 17 3739 c.3516G>A c.(3514-3516)atG>atA p.M1172I MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1172 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTTGAGGTTTCATCTTGGTGC 0.488000 HNSCC(31;0.082) 6 39 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 56995987 56995987 + Silent SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:56995987C>A ENST00000200676.3 + 1 226 c.96C>A c.(94-96)atC>atA p.I32I CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.I32I NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 32 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TGTGCCGCATCACCAAGCCTG 0.617000 45 28 2.68985e-26 2.98298e-26 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1265993 1265993 + Missense_Mutation SNP G G T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:1265993G>T ENST00000447027.1 + 31 7950 c.7892G>T c.(7891-7893)cGc>cTc p.R2631L MUC5B_ENST00000529681.1_Missense_Mutation_p.R2628L|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2628 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.R2607L(1)|p.R2628L(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACGCACGCTTCCA 0.642000 4 78 0.00024832 0.000258791 1 1 0 RELN 5649 broad.mit.edu 37 7 103205858 103205858 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:103205858C>T ENST00000424685.2 - 34 5236 c.5077G>A c.(5077-5079)Gac>Aac p.D1693N RELN_ENST00000428762.1_Missense_Mutation_p.D1693N|RELN_ENST00000343529.5_Missense_Mutation_p.D1693N P78509 RELN_HUMAN reelin 1693 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) AGATGCCAGTCCTTGCCATTG 0.463000 6 31 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102661152 102661152 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:102661152C>T ENST00000315274.6 - 10 1468 c.1401G>A c.(1399-1401)agG>agA p.R467R WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 467 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TTCAATTTTTCCTGCAGTTGA 0.333000 4 30 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68021535 68021535 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:68021535G>A ENST00000412757.2 - 12 2000 c.1335C>T c.(1333-1335)ctC>ctT p.L445L DPEP2_ENST00000572888.1_Silent_p.L445L|DPEP2_ENST00000393847.1_Silent_p.L445L Q9H4A9 DPEP2_HUMAN dipeptidase 2 445 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GAATCTCAGTGAGTTCCTGGC 0.577000 14 149 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499670 125499670 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:125499670G>A ENST00000303545.3 + 2 2152 c.1780G>A c.(1780-1782)Gat>Aat p.D594N NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 594 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CATCGAAGATGATATCAAGGA 0.388000 10 42 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767782 77767782 + Silent SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:77767782C>T ENST00000521891.2 + 10 9073 c.8625C>T c.(8623-8625)ttC>ttT p.F2875F ZFHX4_ENST00000050961.6_Silent_p.F2830F|ZFHX4_ENST00000518282.1_Silent_p.F2849F|ZFHX4_ENST00000455469.2_Silent_p.F2830F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2830 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCATCCATTTCAATGACAAAG 0.507000 HNSCC(33;0.089) 64 10 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239013 3239013 + Silent SNP A A G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chrX:3239013A>G ENST00000217939.6 - 5 4867 c.4713T>C c.(4711-4713)tcT>tcC p.S1571S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1571 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCAGCTTTGTAGACAAGTTAA 0.453000 32 24 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99819313 99819313 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:99819313G>C ENST00000254759.3 - 6 904 c.880C>G c.(880-882)Ctg>Gtg p.L294V COQ3_ENST00000369242.1_Missense_Mutation_p.L66V|COQ3_ENST00000369240.1_Missense_Mutation_p.L66V NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 294 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) CTTGATTCCAGAATGCTCTCT 0.358000 8 27 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131346674 131346674 + Silent SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:131346674C>G ENST00000372739.3 + 17 2417 c.2307C>G c.(2305-2307)ctC>ctG p.L769L SPTAN1_ENST00000358161.5_Silent_p.L769L|SPTAN1_ENST00000372731.4_Silent_p.L769L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 769 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ATGAGGCACTCAAGGAGCCCA 0.552000 14 25 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4259775 4259775 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:4259775G>A ENST00000404826.2 + 39 5713 c.5574G>A c.(5572-5574)ggG>ggA p.G1858G SDK1_ENST00000389531.3_Silent_p.G1838G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1858 Fibronectin type-III 12. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AAGTGAGAGGGAACTGGCAGC 0.602000 16 74 0 0 1 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 3 34 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010646 70010646 + RNA SNP G G A rs149870591 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:70010646G>A ENST00000531894.1 - 0 3748 NR_003610.1 CTGTAGGGCCGAAGAAGGGAA 0.478000 5 141 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93301834 93301834 + Nonsense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:93301834C>T ENST00000370321.3 + 5 502 c.412C>T c.(412-414)Cag>Tag p.Q138* NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 138 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CATTGATGGTCAGCCAGGTGC 0.478000 34 81 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83636197 83636197 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:83636197G>C ENST00000566620.1 + 8 1389 c.1099G>C c.(1099-1101)Gag>Cag p.E367Q CDH13_ENST00000268613.10_Missense_Mutation_p.E414Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E328Q NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 367 Cadherin 3. E -> Q (in a patient with amyotrophic lateral sclerosis). adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.E367Q(1) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CACCAAGAAAGAGGTAAACCC 0.473000 31 191 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 30 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130694280 130694280 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:130694280G>C ENST00000510168.1 + 18 2068 c.1518G>C c.(1516-1518)caG>caC p.Q506H ATP2C1_ENST00000393221.4_Missense_Mutation_p.Q540H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.Q451H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.Q506H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.Q506H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.Q506H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.Q501H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.Q506H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.Q490H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.Q490H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.Q506H P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 506 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CTCAGCAGCAGAGAGATGTGT 0.478000 Hailey-Hailey disease 6 51 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5185362 5185362 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:5185362C>T ENST00000381641.3 - 1 306 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 81 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) TGCGGGCTTTCGAACTGGTAT 0.532000 41 78 0 0 1 0 0 KRTAP4-1 85285 broad.mit.edu 37 17 39341002 39341002 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:39341002G>A ENST00000398472.1 - 1 592 c.105C>T c.(103-105)tgC>tgT p.C35C Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 35 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) AGCTGGGGCAGCAACAGGTGG 0.612000 3 32 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77936237 77936237 + Missense_Mutation SNP C C G TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:77936237C>G ENST00000361507.4 - 5 1304 c.1219G>C c.(1219-1221)Gag>Cag p.E407Q GAB2_ENST00000340149.2_Missense_Mutation_p.E369Q NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 407 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCGTAGGTCTCACAGGAAGAA 0.507000 9 18 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23481580 23481580 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:23481580G>C ENST00000376504.3 + 1 325 c.121G>C c.(121-123)Gag>Cag p.E41Q NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 41 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 GGACGGCGATGAGCTGCTGGC 0.662000 3 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637000 4 68 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992974 72992974 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr16:72992974G>A ENST00000268489.5 - 2 1743 c.1071C>T c.(1069-1071)ctC>ctT p.L357L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 357 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGGGCCTATGAGGTTAGCTG 0.507000 16 100 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75070275 75070275 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:75070275C>T ENST00000453279.2 - 5 1048 c.184G>A c.(184-186)Gaa>Aaa p.E62K POM121C_ENST00000257665.5_Missense_Mutation_p.E304K NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 304 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TGGTCTTCTTCCTCCACTGTC 0.478000 33 192 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 35 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137329868 137329868 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:137329868C>T ENST00000367748.1 - 4 845 c.259G>A c.(259-261)Gtg>Atg p.V87M IL20RA_ENST00000316649.5_Missense_Mutation_p.V198M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V149M|IL20RA_ENST00000468393.1_5'UTR NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 198 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TGGTTGGTCACACACTGGGAC 0.547000 14 43 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598759 62598759 + Missense_Mutation SNP A A T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr4:62598759A>T ENST00000512091.2 + 7 1429 c.682A>T c.(682-684)Ata>Tta p.I228L LPHN3_ENST00000507164.1_Missense_Mutation_p.I296L|LPHN3_ENST00000506720.1_Missense_Mutation_p.I296L|LPHN3_ENST00000507625.1_Missense_Mutation_p.I296L|LPHN3_ENST00000514591.1_Missense_Mutation_p.I228L|LPHN3_ENST00000506746.1_Missense_Mutation_p.I296L|LPHN3_ENST00000511324.1_Missense_Mutation_p.I296L|LPHN3_ENST00000508946.1_Missense_Mutation_p.I228L|LPHN3_ENST00000514157.1_Missense_Mutation_p.I228L|LPHN3_ENST00000506700.1_Missense_Mutation_p.I228L|LPHN3_ENST00000504896.1_Missense_Mutation_p.I228L|LPHN3_ENST00000508693.1_Missense_Mutation_p.I296L|LPHN3_ENST00000545650.1_Missense_Mutation_p.I228L|LPHN3_ENST00000509896.1_Missense_Mutation_p.I296L|LPHN3_ENST00000514996.1_Missense_Mutation_p.I228L Q9HAR2 LPHN3_HUMAN latrophilin 3 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CACCAGGAACATAGTAAAGTT 0.458000 11 19 0 0 1 0 0 FAM133B 257415 broad.mit.edu 37 7 92208648 92208648 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:92208648C>T ENST00000438306.1 - 4 384 c.154G>A c.(154-156)Gaa>Aaa p.E52K FAM133B_ENST00000427372.1_Missense_Mutation_p.E52K|FAM133B_ENST00000445716.1_Missense_Mutation_p.E62K NM_001040057.1 NP_001035146.1 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B 62 Lys-rich. endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATTTTTTCTTCAAATTCAGCC 0.328000 4 18 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66774619 66774619 + RNA SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr7:66774619C>T ENST00000416602.2 + 0 636 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TATCAATCAGCGTCAGTATGA 0.493000 42 89 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68115374 68115374 + Missense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:68115374C>A ENST00000262215.3 - 36 5461 c.5072G>T c.(5071-5073)aGa>aTa p.R1691I ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1145I|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R529I NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1691 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTTTGCAAATCTATGTGACTC 0.408000 5 59 0.184627 0.184627 1 1 0 ANPEP 290 broad.mit.edu 37 15 90349663 90349663 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:90349663G>A ENST00000300060.6 - 2 465 c.152C>T c.(151-153)cCg>cTg p.P51L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 51 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGAGGCGGACGGGGTGGTGGA 0.622000 26 55 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33135270 33135270 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:33135270G>A ENST00000341947.2 - 56 4282 c.4055C>T c.(4054-4056)cCg>cTg p.P1352L COL11A2_ENST00000374713.1_Missense_Mutation_p.P1305L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1266L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1292L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1331L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1271L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1245L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1326L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1352 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGGACCCACCGGGCCTGTCTT 0.652000 4 17 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67794066 67794066 + Splice_Site SNP A A C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:67794066A>C ENST00000262345.1 + 5 1303 c.663A>C c.(661-663)atA>atC p.I221I IL12RB2_ENST00000544434.1_Splice_Site_p.I221I|IL12RB2_ENST00000371000.1_Splice_Site_p.I221I|IL12RB2_ENST00000541374.1_Splice_Site_p.I221I NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 221 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TCTTGGACATAGGTACATTTT 0.348000 27 108 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138376009 138376009 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr2:138376009G>A ENST00000409968.1 + 19 3791 c.3613G>A c.(3613-3615)Gtc>Atc p.V1205I THSD7B_ENST00000413152.2_Missense_Mutation_p.V1177I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1208I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGGTCAAGGCGTCAGGACCCG 0.502000 4 6 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43287216 43287216 + Splice_Site SNP A A C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:43287216A>C ENST00000374518.5 + 6 841 c.778A>C c.(778-780)Agg>Cgg p.R260R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCTGGCAGACAGGTAAAATAT 0.363000 26 102 0 0 1 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159578 242159578 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:242159578C>T ENST00000357246.3 - 4 395 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 111 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGCCATCCTCATCCTTGTAG 0.567000 20 96 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431835 47431835 + Missense_Mutation SNP C C T rs143199010 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr11:47431835C>T ENST00000524928.1 + 1 200 c.190C>T c.(190-192)Cgg>Tgg p.R64W SLC39A13_ENST00000533076.1_Missense_Mutation_p.R64W|SLC39A13_ENST00000531974.1_Missense_Mutation_p.R64W|SLC39A13_ENST00000362021.4_Missense_Mutation_p.R64W|SLC39A13_ENST00000354884.4_Missense_Mutation_p.R64W Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 64 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) GAGCGGAGAGCGGCTGGACAC 0.662000 11 19 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165709 172165709 + Silent SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:172165709G>A ENST00000241256.2 - 1 537 c.495C>T c.(493-495)ttC>ttT p.F165F GHSR_ENST00000427970.1_Silent_p.F165F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 165 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCCAGATGACGAAGATGACCA 0.647000 4 42 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499332 125499332 + Missense_Mutation SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr8:125499332G>C ENST00000303545.3 + 2 1814 c.1442G>C c.(1441-1443)gGa>gCa p.G481A NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 481 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GTAATGTTTGGAAATGGGGCT 0.363000 35 108 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395053 139395053 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr9:139395053C>T ENST00000277541.6 - 31 5960 c.5885G>A c.(5884-5886)cGc>cAc p.R1962H NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1962 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) CAGCGGGGTGCGGCCCATGTT 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 169 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2218989 2218989 + Missense_Mutation SNP A A T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:2218989A>T ENST00000344595.5 + 2 453 c.135A>T c.(133-135)aaA>aaT p.K45N SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 45 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTTTCTTCAAATGTGAACTCT 0.368000 23 54 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6692964 6692964 + Missense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:6692964C>A ENST00000245907.6 - 26 3453 c.3361G>T c.(3361-3363)Gat>Tat p.D1121Y NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1121 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACGGGCGCATCCTCCTGGAAG 0.552000 39 109 9.8876e-21 1.08953e-20 1 1 0 CIC 23152 broad.mit.edu 37 19 42797368 42797368 + Silent SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:42797368C>A ENST00000572681.2 + 16 6519 c.6451C>A c.(6451-6453)Cgg>Agg p.R2151R CIC_ENST00000575354.2_Silent_p.R1244R|CIC_ENST00000160740.3_Silent_p.R1242R Q96RK0 CIC_HUMAN capicua transcriptional repressor 1244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCCCACGGCCCGGAGCAGCCC 0.711000 """Mis, F, S""" oligodendroglioma 3 8 0.115264 0.115934 1 1 0 LTN1 26046 broad.mit.edu 37 21 30329695 30329695 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr21:30329695C>T ENST00000389194.2 - 15 2994 c.2989G>A c.(2989-2991)Gac>Aac p.D997N LTN1_ENST00000361371.5_Missense_Mutation_p.D951N NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 951 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CATTCACTGTCGTTCGGCATT 0.383000 11 54 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54559800 54559800 + Silent SNP C C T rs146193202 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:54559800C>T ENST00000566473.2 + 17 2184 c.2184C>T c.(2182-2184)gaC>gaT p.D728D ANKFN1_ENST00000318698.2_Silent_p.D728D Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 728 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CTGCCTCAGACGACGTCTGTA 0.512000 15 79 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 33 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47565695 47565695 + Missense_Mutation SNP C C A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr4:47565695C>A ENST00000273859.3 + 15 3035 c.2766C>A c.(2764-2766)gaC>gaA p.D922E NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 922 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGACAGGGGACAAGCAGGAGA 0.468000 14 47 4.7546e-09 5.0463e-09 1 1 0 TNR 7143 broad.mit.edu 37 1 175335228 175335228 + Silent SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr1:175335228G>C ENST00000367674.2 - 11 2808 c.2100C>G c.(2098-2100)acC>acG p.T700T TNR_ENST00000263525.2_Silent_p.T700T Q92752 TENR_HUMAN tenascin R Fibronectin type-III 5. 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) GGGAGATGGAGGTCTCCGAGG 0.532000 29 23 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20533674 20533674 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr4:20533674C>T ENST00000504154.1 + 17 1933 c.1681C>T c.(1681-1683)Cgt>Tgt p.R561C SLIT2_ENST00000503823.1_Missense_Mutation_p.R553C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R557C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R565C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 561 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCCTCAATTACGTAAAATGTA 0.289000 8 33 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19647617 19647617 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr21:19647617G>A ENST00000284885.3 - 24 2834 c.2801C>T c.(2800-2802)cCt>cTt p.P934L NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 934 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGATAGAAGAGGAACATCAGC 0.398000 13 59 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982694 75982694 + Missense_Mutation SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:75982694G>A ENST00000308508.5 - 3 804 c.712C>T c.(712-714)Ccc>Tcc p.P238S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 238 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AAGGCCAAGGGTGCCTGCCGG 0.642000 4 13 0 0 1 0 0 CTD-2026G6.3 0 broad.mit.edu 37 3 75599221 75599223 + RNA DEL CCA CCA - rs111816620 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr3:75599221_75599223delCCA ENST00000608389.1 - 0 22 TACCATTTTCccaccaccaccac 0.424 7 5 --- --- --- --- DCLK2 166614 broad.mit.edu 37 4 151119187 151119187 + Frame_Shift_Del DEL C C - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr4:151119187delC ENST00000296550.7 + 4 1647 c.893delC c.(892-894)tccfs p.S299fs DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Frame_Shift_Del_p.S299fs|DCLK2_ENST00000302176.8_Frame_Shift_Del_p.S299fs NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 299 Ser-rich. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TATTCTCGATCCTCAGCTGTT 0.408 13 43 --- --- --- --- GJA1 2697 broad.mit.edu 37 6 121768878 121768880 + In_Frame_Del DEL TTC TTC - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:121768878_121768880delTTC ENST00000282561.3 + 2 1042_1044 c.885_887delTTC c.(883-888)aattct>aat p.S297del NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 297 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) ACAGAAACAATTCTTCTTGCCGC 0.483 9 46 --- --- --- --- PPIL4 85313 broad.mit.edu 37 6 149854626 149854626 + Frame_Shift_Del DEL C C - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr6:149854626delC ENST00000253329.2 - 7 678 c.646delG c.(646-648)gagfs p.E216fs NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 216 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) GTTTTAGCCTCTTTTTCTGCC 0.328 8 29 --- --- --- --- CACNB2 783 broad.mit.edu 37 10 18429702 18429704 + In_Frame_Del DEL GCG GCG - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr10:18429702_18429704delGCG ENST00000324631.7 + 1 97_99 c.37_39delGCG c.(37-39)gcgdel p.A16del CACNB2_ENST00000377328.1_In_Frame_Del_p.A16del|CACNB2_ENST00000352115.6_In_Frame_Del_p.A16del NM_201593.2|NM_201596.2 NP_963887.2|NP_963890.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 16 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCCTCCCACAGCGGCGGCGGCGG 0.714 2 4 --- --- --- --- CHORDC2P 317775 broad.mit.edu 37 14 90203645 90203645 + RNA DEL T T - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr14:90203645delT ENST00000555070.1 - 0 170 CCCAGAATCCTTTTATTTCTT 0.348 2 4 --- --- --- --- INO80 54617 broad.mit.edu 37 15 41366661 41366661 + Frame_Shift_Del DEL C C - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:41366661delC ENST00000361937.3 - 10 1658 c.1234delG c.(1234-1236)gaafs p.E413fs INO80_ENST00000401393.3_Frame_Shift_Del_p.E413fs Q9ULG1 INO80_HUMAN INO80 complex subunit 413 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGGATTTCTTCCTGGATACCA 0.438 20 54 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- SLC16A3 9123 broad.mit.edu 37 17 80195095 80195117 + Frame_Shift_Del DEL GGCTGGCGGCAGCAGGTAGCCCT GGCTGGCGGCAGCAGGTAGCCCT - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr17:80195095_80195117delGGCTGGCGGCAGCAGGTAGCCCT ENST00000581287.1 + 3 2771_2793 c.449_471delGGCTGGCGGCAGCAGGTAGCCCT c.(448-471)gggctggcggcagcaggtagccctfs p.GLAAAGSP150fs SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.GLAAAGSP150fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.GLAAAGSP150fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.GLAAAGSP150fs NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 150 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) ATGGCCAACGGGCTGGCGGCAGCAGGTAGCCCTGTCTTCCTGT 0.655 4 3 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC ACC - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr18:19752073_19752075delACC ENST00000269216.3 + 2 1245_1247 c.968_970delACC c.(967-972)taccac>tac p.H333del GATA6_ENST00000581694.1_In_Frame_Del_p.H333del NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 333 Poly-His. blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 3 3 --- --- --- --- PRR22 163154 broad.mit.edu 37 19 5783022 5783022 + Frame_Shift_Del DEL C C - TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38f33976-2abc-4fb4-921a-281f497943b1 4b896c32-db29-4e98-b03a-ffbf603a7a35 g.chr19:5783022delC ENST00000419421.2 - 3 1340 c.1236delG c.(1234-1236)gggfs p.G412fs NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 410 endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 CCTCCCTGGGCCCCGGGGGAG 0.657 2 4 --- --- --- ---