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 GNA15 2769 broad.mit.edu 37 19 3151776 3151776 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:3151776G>A ENST00000262958.3 + 4 815 c.557G>A c.(556-558)cGc>cAc p.R186H AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 186 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R186H(1) large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CTCCGCAGCCGCATGCCCACC 0.647000 4 164 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107979367 107979367 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr1:107979367G>A ENST00000370068.1 + 7 2182 c.1336G>A c.(1336-1338)Ggg>Agg p.G446R NTNG1_ENST00000542803.1_Missense_Mutation_p.G446R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G412R|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G446R Q9Y2I2 NTNG1_HUMAN netrin G1 446 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGGAACAACAGGGCCTAAGTG 0.493000 9 44 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8722952 8722952 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr16:8722952G>A ENST00000381920.3 + 3 757 c.499G>A c.(499-501)Gat>Aat p.D167N METTL22_ENST00000561758.1_Missense_Mutation_p.D111N NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 167 methyltransferase activity large_intestine(5)|lung(4) 9 CAGCCCGCACGATATCATCAG 0.542000 88 343 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880670 12880670 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:12880670C>T ENST00000155926.4 + 3 2201 c.782C>T c.(781-783)tCc>tTc p.S261F TRIB2_ENST00000381465.2_Missense_Mutation_p.S125F NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 261 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GAACCCAGCTCCCTCTTCAGC 0.597000 11 47 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599470 22599470 + Silent SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr22:22599470C>T ENST00000403807.3 + 2 298 c.159C>T c.(157-159)agC>agT p.S53S VPREB1_ENST00000302273.2_Silent_p.S52S P12018 VPREB_HUMAN pre-B lymphocyte 1 53 Complementarity-determining-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) GTGTGTACAGCGTCTACTGGT 0.627000 24 111 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16514682 16514682 + Silent SNP G G A rs76985523 byFrequency TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:16514682G>A ENST00000602009.1 - 9 1921 c.1026C>T c.(1024-1026)gaC>gaT p.D342D EPS15L1_ENST00000594975.1_Silent_p.D496D|EPS15L1_ENST00000597937.1_Silent_p.D496D|EPS15L1_ENST00000535753.2_Silent_p.D496D|EPS15L1_ENST00000455140.2_Silent_p.D496D|EPS15L1_ENST00000248070.6_Silent_p.D496D Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 496 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GGTTCAGATCGTCTTCCTGGG 0.478000 4 56 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729917 30729917 + Nonsense_Mutation SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:30729917G>T ENST00000295754.5 + 6 1820 c.1438G>T c.(1438-1440)Gag>Tag p.E480* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E505* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 480 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CAAGGTGCGGGAGCACCCCTG 0.507000 31 83 6.00712e-18 6.67458e-18 1 1 0 TOX3 27324 broad.mit.edu 37 16 52484404 52484404 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr16:52484404G>A ENST00000219746.9 - 4 747 c.463C>T c.(463-465)Cgg>Tgg p.R155W TOX3_ENST00000407228.3_Missense_Mutation_p.R150W NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 155 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity p.R155W(1)|p.R150W(1) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 ACGATGGACCGCATGATCAGG 0.562000 5 122 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 618913 618913 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr7:618913C>T ENST00000406797.1 - 9 1045 c.871G>A c.(871-873)Gac>Aac p.D291N PRKAR1B_ENST00000403562.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.D291N|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.D291N NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 291 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) ATGTAAAAGTCGTCCCCAGGC 0.602000 44 152 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734574 52734574 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr14:52734574G>A ENST00000306051.2 + 1 144 c.42G>A c.(40-42)gtG>gtA p.V14V PTGDR_ENST00000553372.1_Silent_p.V14V NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 14 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CCACCTCTGTGGAAAAAGGCA 0.701000 10 16 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270859 1270859 + Missense_Mutation SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr16:1270859G>T ENST00000348261.5 + 35 7175 c.6927G>T c.(6925-6927)gaG>gaT p.E2309D CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2303D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2303D NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2309 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CAGAATCAGAGCCTCCCATGC 0.632000 42 143 1.02067e-35 1.16648e-35 1 1 0 PLIN5 440503 broad.mit.edu 37 19 4523694 4523694 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:4523694G>A ENST00000381848.3 - 8 1318 c.1238C>T c.(1237-1239)cCg>cTg p.P413L NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 413 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CTGCTGGGCCGGCCAGTCCAG 0.706000 47 180 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62316042 62316042 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr15:62316042G>A ENST00000261517.5 - 7 524 c.451C>T c.(451-453)Cgt>Tgt p.R151C VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.R151C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 151 Lys-rich. protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTACGTTTACGTCCTTCACAG 0.328000 6 47 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428832 10428832 + Missense_Mutation SNP C C G TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr17:10428832C>G ENST00000245503.5 - 32 4857 c.4473G>C c.(4471-4473)aaG>aaC p.K1491N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.K1491N NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1491 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CATAGGCATTCTTTATCTTGA 0.443000 7 96 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C C A rs68140816 TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr17:7579311C>A ENST00000420246.2 - 4 508 c.e4+1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGCAACTGACCGTGCAAGTC 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 41 69 6.45866e-13 6.88924e-13 1 1 0 POLR2J4 84820 broad.mit.edu 37 7 44005468 44005468 + RNA SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr7:44005468G>A ENST00000427076.1 - 0 1424 NR_003655.2 GCACTTACTCGTCATGCTGCC 0.667000 8 23 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801135 67801135 + Nonsense_Mutation SNP C C A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr13:67801135C>A ENST00000544246.1 - 2 2129 c.1438G>T c.(1438-1440)Gaa>Taa p.E480* PCDH9_ENST00000456367.1_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.E480*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.E480*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.E480* NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 480 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGGTTGTTTTCAGAAACTGAC 0.433000 20 73 5.26018e-13 5.68668e-13 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131883335 131883335 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr7:131883335G>A ENST00000359827.3 - 13 3609 c.2647C>T c.(2647-2649)Ctg>Ttg p.L883L PLXNA4_ENST00000321063.4_Silent_p.L883L Q9HCM2 PLXA4_HUMAN plexin A4 883 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCCAGGCCCAGGTTCTCCCCT 0.542000 17 54 0 0 1 0 0 DARS2 55157 broad.mit.edu 37 1 173822554 173822554 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr1:173822554G>A ENST00000361951.4 + 14 2139 c.1412G>A c.(1411-1413)cGt>cAt p.R471H DARS2_ENST00000239457.5_Missense_Mutation_p.R53H|DARS2_ENST00000471476.1_3'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 471 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) GTGGTGCTCCGTGACCCCACT 0.478000 28 139 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946453 2946453 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr7:2946453G>A ENST00000396946.4 - 25 3687 c.3284C>T c.(3283-3285)aCg>aTg p.T1095M NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1095 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCTCCTCCGTCTCAGGTCG 0.682000 Mis DLBCL 15 25 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204171 56204171 + Missense_Mutation SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr18:56204171G>T ENST00000361673.3 - 5 3461 c.3248C>A c.(3247-3249)cCa>cAa p.P1083Q RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1083 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GACATGGTGTGGGACTCCTGG 0.493000 37 144 6.02846e-25 6.79263e-25 1 1 0 CELSR1 9620 broad.mit.edu 37 22 46790148 46790148 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr22:46790148G>A ENST00000262738.3 - 14 5854 c.5855C>T c.(5854-5856)cCg>cTg p.P1952L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1952 EGF-like 7; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTGGGGCACGGAAGGTCGAG 0.562000 3 48 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134209 91134209 + Silent SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chrX:91134209C>T ENST00000373094.1 + 2 3815 c.2970C>T c.(2968-2970)agC>agT p.S990S PCDH11X_ENST00000361724.1_Silent_p.S990S|PCDH11X_ENST00000361655.2_Silent_p.S990S|PCDH11X_ENST00000298274.8_Silent_p.S990S|PCDH11X_ENST00000373088.1_Silent_p.S990S|PCDH11X_ENST00000406881.1_Silent_p.S990S|PCDH11X_ENST00000395337.2_Silent_p.S990S|PCDH11X_ENST00000373097.1_Silent_p.S990S|PCDH11X_ENST00000504220.1_Silent_p.S990S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 990 homophilic cell adhesion integral to plasma membrane calcium ion binding p.S990S(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ATCCCTACAGCGTTTCTGACT 0.478000 40 65 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954808 72954808 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr15:72954808C>T ENST00000421285.3 + 11 1063 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 355 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GCAGAGAGTGCGGGAGCAGGA 0.567000 5 405 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74426211 74426211 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr14:74426211G>A ENST00000334571.2 + 8 917 c.877G>A c.(877-879)Gtt>Att p.V293I COQ6_ENST00000238709.4_Missense_Mutation_p.V218I|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.V268I|COQ6_ENST00000557780.1_3'UTR NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 293 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) TGTGGATGCCGTTAACTCTGC 0.448000 4 170 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133917079 133917079 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr9:133917079C>T ENST00000361069.4 + 7 1472 c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 447 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity p.R447C(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCGCAGTGGGCGCTGCCCCTG 0.547000 12 30 0 0 1 0 0 FAM64A 54478 broad.mit.edu 37 17 6350972 6350972 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr17:6350972C>T ENST00000572447.1 + 3 593 c.484C>T c.(484-486)Cgc>Tgc p.R162C FAM64A_ENST00000576056.1_Missense_Mutation_p.R162C|FAM64A_ENST00000571373.1_Missense_Mutation_p.R162C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R162C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162C NM_019013.2 NP_061886.2 Q9BSJ6 FA64A_HUMAN family with sequence similarity 64, member A 162 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) GGAGCATCACCGCCTCTCTGT 0.657000 3 24 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73105607 73105607 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr11:73105607G>A ENST00000064780.2 + 9 1135 c.874G>A c.(874-876)Ggc>Agc p.G292S RELT_ENST00000393580.2_Missense_Mutation_p.G292S NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 292 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 CTCGCTCTCTGGCCCCTGCTG 0.682000 13 177 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44078907 44078907 + Silent SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:44078907C>T ENST00000272286.2 + 4 597 c.507C>T c.(505-507)ttC>ttT p.F169F NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 169 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTTGGCCTTCATTGCCCAGA 0.617000 5 186 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188962 98188962 + Missense_Mutation SNP T T C TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:98188962T>C ENST00000332650.5 + 1 639 c.542T>C c.(541-543)aTt>aCt p.I181T NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TACTGTGATATTCTTCCCTTG 0.388000 52 168 0 0 1 0 0 GORASP1 64689 broad.mit.edu 37 3 39142261 39142261 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:39142261G>A ENST00000319283.3 - 5 1364 c.543C>T c.(541-543)aaC>aaT p.N181N GORASP1_ENST00000479927.1_Silent_p.N86N|GORASP1_ENST00000422110.2_Intron NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa 181 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CCCAGGCTGCGTTGGGAGTTA 0.582000 OREG0015486 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 179 0 0 1 0 0 DOK3 79930 broad.mit.edu 37 5 176935363 176935363 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr5:176935363C>T ENST00000312943.6 - 3 407 c.247G>A c.(247-249)Gct>Act p.A83T DOK3_ENST00000357198.4_Missense_Mutation_p.A139T|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Missense_Mutation_p.A83T NM_001144875.1 NP_001138347.1 Q7L591 DOK3_HUMAN docking protein 3 139 PH. cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCGCCGTCAGCCGGCAGCACG 0.711000 3 29 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29268247 29268247 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:29268247C>T ENST00000379558.4 + 19 3044 c.2693C>T c.(2692-2694)gCg>gTg p.A898V FAM179A_ENST00000403861.2_Missense_Mutation_p.A843V|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 898 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 AGTGGCCGTGCGGTGCTGGAT 0.607000 4 110 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715617 165715617 + Missense_Mutation SNP T T C TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr6:165715617T>C ENST00000230301.8 - 2 214 c.194A>G c.(193-195)aAc>aGc p.N65S C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 65 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTGTTGGGGTTCAGGTGTCC 0.592000 27 122 0 0 1 0 0 C12orf60 144608 broad.mit.edu 37 12 14976229 14976229 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr12:14976229G>A ENST00000330828.2 + 2 564 c.360G>A c.(358-360)acG>acA p.T120T C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 120 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 GTGCCCATACGCCAGTCATCA 0.428000 26 104 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287770 16287770 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr22:16287770C>T ENST00000343518.6 - 1 167 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 39 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GTTGCTCTTGCCGCTCCCCCT 0.592000 6 682 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225527 39225527 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:39225527C>T ENST00000340369.3 - 2 5638 c.5410G>A c.(5410-5412)Ggg>Agg p.G1804R XIRP1_ENST00000421646.1_Missense_Mutation_p.G487R|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1804 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCGTGGAGCCCGAGGTGGGAG 0.612000 24 78 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152500621 152500621 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:152500621C>T ENST00000397345.3 - 57 7869 c.7667G>A c.(7666-7668)cGc>cAc p.R2556H NEB_ENST00000409198.1_Missense_Mutation_p.R2556H|NEB_ENST00000172853.10_Missense_Mutation_p.R2556H|NEB_ENST00000427231.2_Missense_Mutation_p.R2556H|NEB_ENST00000603639.1_Missense_Mutation_p.R2556H|NEB_ENST00000604864.1_Missense_Mutation_p.R2556H NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2556 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAGCTGCTTGCGAAAGCCTTC 0.453000 66 261 0 0 1 0 0 FEZF2 55079 broad.mit.edu 37 3 62356914 62356914 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:62356914G>A ENST00000283268.3 - 4 1392 c.1098C>T c.(1096-1098)tgC>tgT p.C366C FEZF2_ENST00000486811.1_Silent_p.C366C|FEZF2_ENST00000475839.1_Silent_p.C366C NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 366 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) AGCCTTTGCCGCAAAATTCGC 0.572000 4 88 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10094266 10094266 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chrX:10094266G>A ENST00000380861.4 + 15 2417 c.2026G>A c.(2026-2028)Gtg>Atg p.V676M WWC3_ENST00000454666.1_Missense_Mutation_p.V676M NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 676 C2. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CAGAATCCCCGTGCATTCCAG 0.562000 4 165 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57180310 57180310 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr4:57180310G>A ENST00000504228.1 + 6 747 c.642G>A c.(640-642)ccG>ccA p.P214P KIAA1211_ENST00000264229.6_Silent_p.P214P|KIAA1211_ENST00000541073.1_Silent_p.P207P Q6ZU35 K1211_HUMAN KIAA1211 214 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AACCCAATCCGCTGGATTCCG 0.602000 12 20 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135095108 135095108 + Splice_Site SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chrX:135095108G>A ENST00000370695.4 + 8 1077 c.1041_splice c.e8-1 p.V348_splice SLC9A6_ENST00000370698.3_Splice_Site_p.V316_splice|SLC9A6_ENST00000370701.1_Splice_Site_p.V296_splice NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 316 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) ACAGTCTTACGTGACAAAGTT 0.423000 4 109 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99171637 99171637 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr13:99171637G>A ENST00000397517.2 - 2 209 c.133C>T c.(133-135)Cgg>Tgg p.R45W STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.R45W|STK24_ENST00000376547.3_Missense_Mutation_p.R57W NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 57 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTCTGAGTCCGATTGTCAATG 0.428000 5 245 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383935 85383935 + Silent SNP T T G TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr15:85383935T>G ENST00000258888.5 + 5 2198 c.2031T>G c.(2029-2031)acT>acG p.T677T NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 677 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCAGCCGACTAGGCCTTTCA 0.607000 13 74 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103359213 103359213 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr8:103359213C>T ENST00000520539.1 - 6 1100 c.494G>A c.(493-495)cGg>cAg p.R165Q UBR5_ENST00000220959.4_Missense_Mutation_p.R165Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R165Q NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 165 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCCTCGATCCCGTCCTGTCCG 0.557000 4 183 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887335 26887335 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr1:26887335C>T ENST00000374168.2 + 15 1488 c.1334C>T c.(1333-1335)gCt>gTt p.A445V RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A429V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A353V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A434V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A454V NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 445 Protein kinase 2. axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATGGAGTATGCTGTCAAGGTG 0.592000 4 94 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102449821 102449821 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr11:102449821C>T ENST00000260228.2 - 9 1312 c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 434 Hemopexin-like 3. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GAAAATTCTTCTTCAGTATTC 0.299000 40 54 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151480 73151480 + Missense_Mutation SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr9:73151480G>T ENST00000377110.2 - 25 4756 c.4513C>A c.(4513-4515)Cta>Ata p.L1505I TRPM3_ENST00000423814.3_Missense_Mutation_p.L1532I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L1367I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L1364I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L1354I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.L1364I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L1367I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L1377I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L1377I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L1509I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1530 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTGGTGGCTAGGTAGCGGCTA 0.498000 9 84 0.000673444 0.000681969 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38840417 38840417 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr6:38840417G>A ENST00000359357.3 + 48 6699 c.6445G>A c.(6445-6447)Gga>Aga p.G2149R DNAH8_ENST00000449981.2_Missense_Mutation_p.G2366R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2113R dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACAGAATGCGGAAGGCCTCA 0.483000 15 70 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39788394 39788394 + Silent SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr20:39788394G>T ENST00000373272.2 + 2 771 c.366G>T c.(364-366)ctG>ctT p.L122L PLCG1_ENST00000244007.3_Silent_p.L122L|PLCG1_ENST00000373271.1_Silent_p.L122L NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 122 PH 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CGCTGAGCCTGCAAGGTGGGA 0.542000 16 103 2.23348e-06 2.3205e-06 1 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140798045 140798045 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr5:140798045G>A ENST00000398594.2 + 1 619 c.619G>A c.(619-621)Gct>Act p.A207T PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCAGAGCGCTCACCACTT 0.498000 39 52 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242815330 242815330 + Silent SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:242815330C>T ENST00000343216.3 + 2 1651 c.1623C>T c.(1621-1623)taC>taT p.Y541Y NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 541 integral to membrane CCGAGCCCTACGAGGACTTCT 0.667000 49 218 0 0 1 0 0 SMN2 6607 broad.mit.edu 37 5 69372363 69372363 + Missense_Mutation SNP C C A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr5:69372363C>A ENST00000380743.4 + 8 924 c.850C>A c.(850-852)Caa>Aaa p.Q284K SMN2_ENST00000511812.1_Missense_Mutation_p.Q217K|SMN2_ENST00000380742.4_Missense_Mutation_p.Q252K|SMN2_ENST00000380741.4_Intron NM_017411.3 NP_059107.1 Q16637 SMN_HUMAN survival of motor neuron 2, centromeric 284 Required for interaction with SYNCRIP. cell death|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding|RNA binding Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) TAGACAAAATCAAAAAGAAGG 0.284000 3 11 0.0215528 0.0215528 1 1 0 CBFA2T3 863 broad.mit.edu 37 16 88945792 88945792 + Silent SNP C C A rs141897085 by1000genomes TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr16:88945792C>A ENST00000268679.4 - 11 1944 c.1548G>T c.(1546-1548)gcG>gcT p.A516A CBFA2T3_ENST00000327483.5_Silent_p.A430A|CBFA2T3_ENST00000436887.2_Silent_p.A478A|CBFA2T3_ENST00000448839.1_Silent_p.A440A|CBFA2T3_ENST00000360302.2_Silent_p.A430A NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 516 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) TGAGCTCGTGCGCTTTGCGCT 0.662000 T RUNX1 AML 6 69 5.9392e-07 6.25179e-07 1 1 0 PPL 5493 broad.mit.edu 37 16 4934643 4934643 + Missense_Mutation SNP C C T rs150735451 by1000genomes TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr16:4934643C>T ENST00000345988.2 - 22 4102 c.4013G>A c.(4012-4014)cGg>cAg p.R1338Q PPL_ENST00000590782.2_Missense_Mutation_p.R1336Q NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1338 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CTCCTCTTTCCGGGCGATCTG 0.607000 5 451 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188932 98188932 + Missense_Mutation SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:98188932C>T ENST00000332650.5 + 1 609 c.512C>T c.(511-513)tCg>tTg p.S171L NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171L(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTCTGTGGATCGAATCACATC 0.398000 35 190 0 0 1 0 0 C17orf82 388407 broad.mit.edu 37 17 59489575 59489575 + Missense_Mutation SNP C C G TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr17:59489575C>G ENST00000335108.2 + 1 464 c.239C>G c.(238-240)cCg>cGg p.P80R NM_203425.1 NP_982249.1 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 80 cervix(1)|lung(1) 2 GGAGGAAGCCCGAGCTCCGGG 0.746000 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 13 0 0 1 0 0 FEZF2 55079 broad.mit.edu 37 3 62355884 62355884 + Silent SNP C C T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr3:62355884C>T ENST00000283268.3 - 5 1548 c.1254G>A c.(1252-1254)acG>acA p.T418T FEZF2_ENST00000486811.1_Silent_p.T418T|FEZF2_ENST00000475839.1_Silent_p.T418T NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 418 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) AAGTGGCGCACGTGAAAGGCT 0.527000 4 192 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55361943 55361943 + Missense_Mutation SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:55361943G>A ENST00000326321.3 + 1 46 c.13G>A c.(13-15)Gtc>Atc p.V5I KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V5I NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 5 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GTCGCTCACGGTCGTCAGCAT 0.607000 27 59 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766196 43766196 + Silent SNP G G A rs150952802 TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:43766196G>A ENST00000244293.7 - 3 591 c.525C>T c.(523-525)gaC>gaT p.D175D PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Silent_p.D175D Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 175 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGTAGCTTGCGTCCAGAGTCT 0.532000 5 403 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157111 22157111 + Nonsense_Mutation SNP G G T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:22157111G>T ENST00000397126.4 - 4 873 c.725C>A c.(724-726)tCa>tAa p.S242* ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTAAGGATTGAGAACTTACT 0.368000 11 53 3.03607e-14 3.3272e-14 1 1 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 35 0 0 1 0 0 SLC39A3 29985 broad.mit.edu 37 19 2732937 2732937 + Missense_Mutation SNP C C A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:2732937C>A ENST00000269740.4 - 3 1086 c.757G>T c.(757-759)Gcc>Tcc p.A253S SLC39A3_ENST00000545664.1_Missense_Mutation_p.A253S|AC006538.4_ENST00000586572.1_Intron NM_144564.4 NP_653165.2 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 253 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCCCTGGGCGCTCTCAATG 0.711000 8 68 0.000157383 0.000161419 1 1 0 SNHG12 85028 broad.mit.edu 37 1 28906820 28906820 + RNA DEL A A - rs11325748 TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr1:28906820delA ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA actccgtctcaaaaaaaaaaa 0.493 3 4 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128277 152128280 + Frame_Shift_Del DEL TGTC TGTC - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr1:152128277_152128280delTGTC ENST00000316073.3 - 3 1359_1362 c.1295_1298delGACA c.(1294-1299)aafs p.RQ432fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 432 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.R432K(1) 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 ACTCTGGCCTTGTCTGTCTGTCTG 0.525 7 1288 --- --- --- --- MBD5 55777 broad.mit.edu 37 2 149247884 149247886 + In_Frame_Del DEL TCT TCT - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr2:149247884_149247886delTCT ENST00000407073.1 + 12 4981_4983 c.3984_3986delTCT c.(3982-3987)tcg>tc p.SL1328del MBD5_ENST00000404807.1_In_Frame_Del_p.SL1561del NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1328 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGGAAAATTCTCTGGTCAAAGAC 0.448 11 56 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6761577 6761578 + RNA INS - - CCT TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr7:6761577_6761578insCCT ENST00000486256.1 + 0 346 NR_002217.1 ATCATCCACCACCTCCTGGAGG 0.589 2 4 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296063 19296063 + RNA DEL A A - rs111431546 TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr11:19296063delA ENST00000527978.1 + 0 339 actctgtttcaaaaaaaaaaa 0.478 3 5 --- --- --- --- CDK2AP2 10263 broad.mit.edu 37 11 67275483 67275483 + Frame_Shift_Del DEL G G - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr11:67275483delG ENST00000301488.3 - 1 619 c.71delC c.(70-72)cgfs p.P24fs CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P24fs NM_005851.3 NP_005842.1 O75956 CDKA2_HUMAN cyclin-dependent kinase 2 associated protein 2 24 lung(1) 1 TGTAGGGACCGGGGTGCCCGG 0.692 2 4 --- --- --- --- LOC101928823 101928823 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 2 4 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28913366 28913367 + RNA INS - - T TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr15:28913366_28913367insT ENST00000528584.1 + 0 1224 NR_036443.1 TTGAGTTCTCCTTTTTTTTTTT 0.307 3 4 --- --- --- --- LILRB2 10288 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 7 197 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153594745 153594745 + Frame_Shift_Del DEL G G - TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fe4298f-82f3-4228-bfa4-d937a7efc4ff ab7abe4d-2eb2-4598-bdf9-0f2604b148aa g.chrX:153594745delG ENST00000422373.1 - 8 1407 c.1159delC c.(1159-1161)aafs p.Q387fs FLNA_ENST00000369850.3_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.Q387fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.Q387fs NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 387 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CCGGGACCTTGGGCTGTCACT 0.597 19 29 --- --- --- ---