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 PRKAA2 5563 broad.mit.edu 37 1 57173364 57173364 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:57173364T>A ENST00000371244.4 + 9 1703 c.1637T>A c.(1636-1638)cTg>cAg p.L546Q NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 546 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.L546Q(3) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGTGCCAGTCTGATTACTACT 0.388 4 142 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158637764 158637764 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:158637764T>C ENST00000368147.4 - 15 2102 c.1922A>G c.(1921-1923)cAg>cGg p.Q641R 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 p.Q641R(1) 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) GCCAGTTTTCTGTATGTTTTC 0.468 12 130 --- --- --- --- DUSP27 92235 broad.mit.edu 37 1 167095421 167095421 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:167095421C>T ENST00000361200.2 + 6 1219 c.1053C>T c.(1051-1053)taC>taT p.Y351Y DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 351 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.Y351Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGAAACTGTACGAGCAGTGGA 0.662 5 18 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179432336 179432336 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr2:179432336G>A ENST00000589042.1 - 326 78747 c.78523C>T c.(78523-78525)Ccc>Tcc p.P26175S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24534 Fibronectin type-III 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCAGAGGGTTTACTTATT 0.388 6 92 --- --- --- --- TKT 7086 broad.mit.edu 37 3 53263147 53263147 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:53263147T>A ENST00000462138.1 - 10 1359 c.1271A>T c.(1270-1272)gAc>gTc p.D424V TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V P29401 TKT_HUMAN transketolase 424 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity p.D424V(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) GGAGGGCCCGTCTTCCCCTGG 0.572 5 157 --- --- --- --- CEP97 79598 broad.mit.edu 37 3 101450746 101450746 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:101450746A>T ENST00000341893.3 + 5 1262 c.510A>T c.(508-510)agA>agT p.R170S CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 170 centrosome|nucleus protein binding p.R170S(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCTACCCAGAAGTCTTGCTA 0.373 7 140 --- --- --- --- FGA 2243 broad.mit.edu 37 4 155506852 155506852 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr4:155506852A>G ENST00000302053.3 - 5 1807 c.1729T>C c.(1729-1731)Tca>Cca p.S577P FGA_ENST00000403106.3_Missense_Mutation_p.S577P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 577 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S577P(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTGTAACTTGAAGATTTACCA 0.443 25 82 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889273 889273 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:889273G>A ENST00000323510.4 - 2 120 c.121C>T c.(121-123)Ccc>Tcc p.P41S BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S Q9H8M2 BRD9_HUMAN bromodomain containing 9 157 nucleic acid binding p.P41S(1)|p.P157S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AATCCATGGGGATCTTTTCTG 0.343 13 15 --- --- --- --- GFM2 84340 broad.mit.edu 37 5 74056731 74056731 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:74056731T>C ENST00000296805.3 - 3 601 c.144A>G c.(142-144)ctA>ctG p.L48L GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 48 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity p.L48L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTGTACCTGGTAGAGAACTGC 0.338 6 174 --- --- --- --- PCDHB5 26167 broad.mit.edu 37 5 140516811 140516811 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:140516811G>A ENST00000231134.5 + 1 2012 c.1795G>A c.(1795-1797)Gcc>Acc p.A599T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 599 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.A599T(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716 20 62 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140590277 140590277 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:140590277G>A ENST00000239450.2 + 1 1987 c.1798G>A c.(1798-1800)Gcc>Acc p.A600T PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 600 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A600T(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716 7 234 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10586319 10586319 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:10586319T>C ENST00000265012.4 + 1 341 c.97T>C c.(97-99)Tat>Cat p.Y33H GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 34 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.Y33H(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCCAAAAAGTTATGAGAAGCT 0.388 4 156 --- --- --- --- OPN5 221391 broad.mit.edu 37 6 47763181 47763181 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:47763181C>T ENST00000489301.2 + 4 723 c.638C>T c.(637-639)gCt>gTt p.A213V OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR Q6U736 OPN5_HUMAN opsin 5 213 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.A213V(1) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CTCCCAACGGCTGTGATCGTG 0.542 32 80 --- --- --- --- NOD1 10392 broad.mit.edu 37 7 30491719 30491719 + Silent SNP G G T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:30491719G>T ENST00000222823.4 - 6 1839 c.1314C>A c.(1312-1314)ccC>ccA p.P438P NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 438 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CCAGGCTGCTGGGCTGCATCC 0.652 4 83 --- --- --- --- GCK 2645 broad.mit.edu 37 7 44185094 44185094 + Splice_Site SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:44185094A>G ENST00000403799.3 - 9 1723 c.e9+1 GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.?(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GGGCGGGCTCACCTGGGGTGC 0.627 3 9 --- --- --- --- RB1CC1 9821 broad.mit.edu 37 8 53586756 53586756 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr8:53586756C>A ENST00000025008.5 - 7 1174 c.651G>T c.(649-651)ttG>ttT p.L217F RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 217 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CCAGTCTTCCCAAACATTCTC 0.403 4 157 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68950516 68950516 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr8:68950516A>T ENST00000288368.4 + 7 1105 c.828A>T c.(826-828)aaA>aaT p.K276N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 276 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.K276N(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGTACTGCAAAAGAAAACACA 0.403 14 33 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139642957 139642957 + Missense_Mutation SNP G G T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr8:139642957G>T ENST00000303045.6 - 50 4090 c.3644C>A c.(3643-3645)cCa>cAa p.P1215Q COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1215 Collagen-like 11.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P1215Q(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGATTCCTGGTGGTCCAGC 0.478 HNSCC(7;0.00092) 4 172 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18504896 18504896 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:18504896T>C ENST00000380548.4 + 2 472 c.133T>C c.(133-135)Tgc>Cgc p.C45R ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 45 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.C45R(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ATGGAGTGAATGCTCACGCAC 0.607 11 98 --- --- --- --- DENND4C 55667 broad.mit.edu 37 9 19360324 19360324 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:19360324C>A ENST00000380432.2 + 24 4421 c.4388C>A c.(4387-4389)tCt>tAt p.S1463Y DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1463 integral to membrane p.S1463Y(1) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GAACTTGAATCTTTGCTAGAA 0.378 4 146 --- --- --- --- COL27A1 85301 broad.mit.edu 37 9 117052373 117052373 + Silent SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:117052373A>G ENST00000356083.3 + 46 4633 c.4242A>G c.(4240-4242)ccA>ccG p.P1414P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1414 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.P1414P(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAGGGGCCCCAGGCCGGAGGG 0.642 3 89 --- --- --- --- OR4X1 390113 broad.mit.edu 37 11 48286184 48286184 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr11:48286184A>G ENST00000320048.1 + 1 772 c.772A>G c.(772-774)Agg>Ggg p.R258G NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R258G(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GGTCTATATTAGGCCCTGTGT 0.493 3 221 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6058267 6058267 + Missense_Mutation SNP G G T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:6058267G>T ENST00000261405.5 - 52 8610 c.8356C>A c.(8356-8358)Ctg>Atg p.L2786M NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2786 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GTGCAGTGCAGGGCCACCTGC 0.567 3 33 --- --- --- --- CLEC1A 51267 broad.mit.edu 37 12 10233907 10233907 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:10233907T>A ENST00000315330.4 - 3 382 c.320A>T c.(319-321)aAt>aTt p.N107I CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 107 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.N107I(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AAGCTTTATATTCTGGACTTG 0.448 5 92 --- --- --- --- HTR7P1 93164 broad.mit.edu 37 12 13155157 13155157 + RNA SNP T T G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:13155157T>G ENST00000543321.1 + 0 31 p.S537A(1) CACGATTTACTCCACCGCAGT 0.478 3 13 --- --- --- --- ANAPC7 51434 broad.mit.edu 37 12 110815282 110815282 + Nonsense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:110815282C>A ENST00000455511.3 - 9 1375 c.1375G>T c.(1375-1377)Gag>Tag p.E459* ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*|ANAPC7_ENST00000481473.1_5'UTR NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 459 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding p.E425*(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 TTGGCTTTCTCCTGTGTCACT 0.418 4 123 --- --- --- --- WSB2 55884 broad.mit.edu 37 12 118480735 118480735 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:118480735C>A ENST00000315436.3 - 4 611 c.470G>T c.(469-471)aGa>aTa p.R157I WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000544233.1_Intron NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 157 intracellular signal transduction p.R157I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTCAGATCTCTCACGACATC 0.562 4 141 --- --- --- --- LRRC43 254050 broad.mit.edu 37 12 122669084 122669084 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:122669084C>T ENST00000339777.4 + 2 197 c.169C>T c.(169-171)Cct>Tct p.P57S LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 57 p.P57S(1) NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCGCTTTCTTCCTCAAACTTG 0.562 3 33 --- --- --- --- CHMP4A 29082 broad.mit.edu 37 14 24682652 24682652 + Missense_Mutation SNP C C G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr14:24682652C>G ENST00000347519.6 - 1 423 c.123G>C c.(121-123)gaG>gaC p.E41D CHMP4A_ENST00000609024.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000530996.1_5'UTR|AL136419.6_ENST00000565988.1_RNA NM_014169.3 NP_054888.2 charged multivesicular body protein 4A p.E41D(1) NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) TCATCGCGAGCTCGCCTCTCC 0.672 6 50 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3658496 3658496 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:3658496G>A ENST00000294008.3 - 2 1110 c.470C>T c.(469-471)gCa>gTa p.A157V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 157 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.A157V(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGTGTTTTGTGCTGTTTCCCG 0.522 Direct reversal of damage 6 142 --- --- --- --- ZNF747 65988 broad.mit.edu 37 16 30545567 30545567 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:30545567C>A ENST00000252799.3 - 1 1101 c.434G>T c.(433-435)cGg>cTg p.R145L ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000568028.1_Silent_p.P98P|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000569360.1_Silent_p.P98P|ZNF747_ENST00000535210.1_Silent_p.P98P NM_023931.2 NP_076420.1 Q9BV97 ZN747_HUMAN zinc finger protein 747 145 regulation of transcription, DNA-dependent intracellular nucleic acid binding p.R145L(1) kidney(1)|lung(3)|prostate(1) 5 CCTGGGCAGCCGGATCCCACA 0.637 3 5 --- --- --- --- SERPINF1 5176 broad.mit.edu 37 17 1679918 1679918 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:1679918C>T ENST00000254722.4 + 7 1042 c.879C>T c.(877-879)ctC>ctT p.L293L NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 293 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity p.L293L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AGGAGAGCCTCACCTCCGAGT 0.522 5 166 --- --- --- --- TAOK1 57551 broad.mit.edu 37 17 27844648 27844648 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:27844648A>C ENST00000261716.3 + 16 2401 c.1882A>C c.(1882-1884)Aac>Cac p.N628H TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 628 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity p.N628H(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TGGGCGTCATAACTTAGAGCA 0.393 28 97 --- --- --- --- UNC45B 146862 broad.mit.edu 37 17 33504058 33504058 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:33504058A>G ENST00000268876.5 + 16 2151 c.2054A>G c.(2053-2055)gAg>gGg p.E685G UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 685 cell differentiation|muscle organ development cytosol binding p.E685G(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTGGCTTTGGAGGGCACAGAT 0.572 3 133 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80726352 80726352 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:80726352T>C ENST00000355528.4 + 5 622 c.492T>C c.(490-492)ccT>ccC p.P164P TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 164 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCCTGATCCCTTTTGATTTTT 0.473 4 297 --- --- --- --- ZNF709 163051 broad.mit.edu 37 19 12575501 12575501 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:12575501C>A ENST00000397732.3 - 4 1406 c.1235G>T c.(1234-1236)aGa>aTa p.R412I ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R412I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 AGTGTGAGTTCTTTCATGCAT 0.418 4 123 --- --- --- --- EMR2 30817 broad.mit.edu 37 19 14875286 14875286 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:14875286A>C ENST00000315576.3 - 11 1494 c.1043T>G c.(1042-1044)cTt>cGt p.L348R EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 348 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.L348R(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CCCATTGGAAAGGTTCTTGCT 0.577 3 63 --- --- --- --- PSG11 5680 broad.mit.edu 37 19 43519267 43519267 + Splice_Site SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:43519267C>A ENST00000401740.1 - 4 1068 c.e4+1 PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 female pregnancy extracellular region p.?(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GATCCACTTACCAATGACTCT 0.473 12 158 --- --- --- --- KLK3 354 broad.mit.edu 37 19 51361766 51361766 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:51361766A>C ENST00000360617.3 + 4 545 c.545A>C c.(544-546)gAc>gCc p.D182A KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A P07288 KLK3_HUMAN kallikrein-related peptidase 3 182 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.D182A(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) ATTTCCAATGACGTGTGTGCG 0.547 6 175 --- --- --- --- MBOAT7 79143 broad.mit.edu 37 19 54692085 54692085 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:54692085A>C ENST00000245615.1 - 3 672 c.192T>G c.(190-192)atT>atG p.I64M MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 64 phospholipid biosynthetic process integral to membrane acyltransferase activity p.I64M(1) endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCTGGGCCTGAATGAGGGCCC 0.607 3 97 --- --- --- --- AGPAT3 56894 broad.mit.edu 37 21 45400973 45400973 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr21:45400973C>A ENST00000398063.2 + 8 1439 c.947C>A c.(946-948)aCc>aAc p.T316N AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 316 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.T316N(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCCTGGGCCACCATTCTCCTG 0.552 4 121 --- --- --- --- UBR2 23304 broad.mit.edu 37 6 42609419 42609427 + In_Frame_Del DEL CTAGTAAAC CTAGTAAAC - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:42609419_42609427delCTAGTAAAC ENST00000372899.1 + 17 2278_2286 c.2020_2028delCTAGTAAAC c.(2020-2028)ctagtaaacdel p.LVN674del UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 674 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGGGTTCTCTCTAGTAAACCAGGTAAGTG 0.411 31 88 --- --- --- ---