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 GABRG1 2565 broad.mit.edu 37 4 46125866 46125866 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:46125866C>G ENST00000295452.4 - 1 232 c.65G>C c.(64-66)aGg>aCg p.R22T NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R22T(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GAAGACCAACCTCACCCCTCT 0.453000 5 38 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50244178 50244178 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:50244178T>C ENST00000338821.5 - 17 2070 c.1806A>G c.(1804-1806)gcA>gcG p.A602A ATP9A_ENST00000311637.5_Silent_p.A466A|ATP9A_ENST00000402822.1_Silent_p.A481A NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 602 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.A602A(1) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GAGACTTCTTTGCCACCACGA 0.562000 67 256 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53785527 53785527 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:53785527G>C ENST00000370888.1 + 13 1661 c.1384G>C c.(1384-1386)Gag>Cag p.E462Q RP3-523E19.2_ENST00000474641.2_RNA NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 462 cytoplasm|membrane p.E462Q(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CCGATTTGTGGAGGATGAGAA 0.443000 13 24 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16982064 16982064 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:16982064T>C ENST00000377833.4 - 37 5580 c.5515A>G c.(5515-5517)Agc>Ggc p.S1839G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1839 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.S1839G(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCCGTGCCGCTGCCAGAACCA 0.413000 116 39 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770491 31770491 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:31770491G>T ENST00000240587.4 - 2 535 c.208C>A c.(208-210)Cat>Aat p.H70N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 70 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H70N(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCCATTTCATGGCAGGAAAAC 0.592000 8 17 0.000157383 0.000177719 1 1 0 SPPL2B 56928 broad.mit.edu 37 19 2337525 2337525 + RNA SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:2337525C>A ENST00000452401.2 + 0 350 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity p.I90I(1) 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) GCAACCAGATCCCGCTGGTGG 0.672000 38 9 9.85913e-13 1.436e-12 1 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497432 1497432 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1497432C>A ENST00000421627.2 + 2 707 c.573C>A c.(571-573)caC>caA p.H191Q NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 270 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.H213Q(1)|p.H235Q(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGCCCACCACGCCAAGCACA 0.667000 10 8 0.00829132 0.00881775 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149638350 149638350 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:149638350G>T ENST00000370401.2 + 4 815 c.505G>T c.(505-507)Gtg>Ttg p.V169L MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 169 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.V96L(1)|p.V144L(1)|p.V169L(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AATCAACAGCGTGCCGGCTGT 0.478000 42 5 1.07121e-22 1.85614e-22 1 1 0 SLC12A5 57468 broad.mit.edu 37 20 44685923 44685923 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:44685923C>A ENST00000454036.1 + 25 3385 c.3309C>A c.(3307-3309)aaC>aaA p.N1103K SLC12A5_ENST00000243964.3_Missense_Mutation_p.N1080K NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1103 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.N1080K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTCCCCGCAACCGCAATGGTG 0.567000 15 116 7.07596e-05 8.12724e-05 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96761794 96761794 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:96761794G>A ENST00000295266.4 + 1 556 c.493G>A c.(493-495)Gtc>Atc p.V165I NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 165 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.V165I(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CAATGGCATCGTCGGTGCACA 0.507000 29 67 0 0 1 0 0 VGF 7425 broad.mit.edu 37 7 100807902 100807902 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:100807902G>T ENST00000249330.2 - 2 462 c.223C>A c.(223-225)Cag>Aag p.Q75K VGF_ENST00000445482.2_Missense_Mutation_p.Q75K NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 75 response to cAMP extracellular space|transport vesicle growth factor activity p.Q75K(1) cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) TCCACGCCCTGGAAAAGCTCT 0.736000 3 3 1.23904e-05 1.4913e-05 1 1 0 MYH2 4620 broad.mit.edu 37 17 10426814 10426814 + Splice_Site SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:10426814C>T ENST00000245503.5 - 37 5855 c.5472_splice c.e37+1 p.R1824_splice MYH2_ENST00000397183.2_Splice_Site_p.R1824_splice|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1824 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1824K(1) 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 GAGACCCACCCTGGCCTCCAG 0.517000 22 42 0 0 1 0 0 PDIA6 10130 broad.mit.edu 37 2 10927471 10927471 + Missense_Mutation SNP G G A rs138012463 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:10927471G>A ENST00000404371.2 - 13 1586 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C PDIA6_ENST00000540494.1_Missense_Mutation_p.R362C|PDIA6_ENST00000404824.2_Missense_Mutation_p.R413C|PDIA6_ENST00000381611.4_Missense_Mutation_p.R370C|PDIA6_ENST00000272227.3_Missense_Mutation_p.R365C Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 365 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.R365C(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) TTCATCTTGCGTGCATTGATG 0.493000 39 64 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131912276 131912276 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:131912276C>T ENST00000359827.3 - 7 2778 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M PLXNA4_ENST00000321063.4_Missense_Mutation_p.V606M Q9HCM2 PLXA4_HUMAN plexin A4 606 integral to membrane|intracellular|plasma membrane p.V606M(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGATTGCCCACGACCAGCCCA 0.587000 11 27 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35570213 35570213 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:35570213G>T ENST00000373330.1 + 7 824 c.650G>T c.(649-651)tGc>tTc p.C217F ZMYM1_ENST00000359858.4_Missense_Mutation_p.C217F|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 217 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding p.C217F(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTAATGCCTGCCTTTCAAAG 0.358000 29 10 6.07407e-21 1.01741e-20 1 1 0 CHD7 55636 broad.mit.edu 37 8 61777733 61777733 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:61777733G>T ENST00000423902.2 + 38 8714 c.8235G>T c.(8233-8235)ctG>ctT p.L2745L CHD7_ENST00000524602.1_Silent_p.L696L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2745 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.V2746L(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCCTTTGCTGGTGAACAGCC 0.607000 4 6 0.000602214 0.000668757 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31815998 31815998 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:31815998G>T ENST00000446923.2 + 9 3524 c.3133G>T c.(3133-3135)Ggg>Tgg p.G1045W ZEB1_ENST00000320985.10_Missense_Mutation_p.G1061W|ZEB1_ENST00000361642.5_Missense_Mutation_p.G1062W|ZEB1_ENST00000542815.3_Missense_Mutation_p.G994W|ZEB1_ENST00000560721.2_Missense_Mutation_p.G1041W NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1061 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.G1061W(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) aaaaccacaaggggatgagga 0.438000 10 5 9.70103e-10 1.32647e-09 1 1 0 OR56A3 390083 broad.mit.edu 37 11 5968696 5968696 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:5968696C>A ENST00000329564.6 + 1 127 c.120C>A c.(118-120)ctC>ctA p.L40L NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L40L(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTTTTCCTCTTGGCCGTAG 0.597000 62 18 6.52717e-41 1.31196e-40 1 1 0 ABI3 51225 broad.mit.edu 37 17 47299555 47299555 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:47299555C>A ENST00000225941.1 + 7 1403 c.905C>A c.(904-906)cCc>cAc p.P302H ABI3_ENST00000419580.2_Missense_Mutation_p.P296H NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 302 Pro-rich. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding p.P302H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CCTGATGAGCCCAGCTGGGTG 0.612000 HNSCC(55;0.14) 70 33 1.74474e-33 3.43817e-33 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48256677 48256677 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:48256677C>A ENST00000394747.1 - 5 958 c.609G>T c.(607-609)gtG>gtT p.V203V ABCC11_ENST00000356608.2_Silent_p.V203V|ABCC11_ENST00000353782.5_Silent_p.V203V|ABCC11_ENST00000394748.1_Silent_p.V203V|ABCC11_ENST00000537808.1_Silent_p.V203V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 203 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.V203V(2) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCAGAGTCCCACTCCATGGA 0.458000 9 23 3.86212e-05 4.51329e-05 1 1 0 CELF3 11189 broad.mit.edu 37 1 151677546 151677546 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:151677546G>T ENST00000290583.4 - 12 2162 c.1369C>A c.(1369-1371)Cgg>Agg p.R457R CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.R407R|CELF3_ENST00000392706.3_Silent_p.R252R NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 457 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding p.R457R(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 TCCTTAGGCCGCTTTAGCTGG 0.632000 25 36 2.41591e-17 3.91611e-17 1 1 0 TMEM81 388730 broad.mit.edu 37 1 205052919 205052919 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:205052919C>A ENST00000367167.3 - 1 726 c.530G>T c.(529-531)gGg>gTg p.G177V NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 177 integral to membrane p.G177V(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) GACCCTCAACCCAAAATAGAG 0.418000 26 40 1.42536e-11 2.01758e-11 1 1 0 MTR 4548 broad.mit.edu 37 1 237057847 237057847 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:237057847G>T ENST00000366577.5 + 30 3789 c.3395G>T c.(3394-3396)cGg>cTg p.R1132L MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.R1081L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1132 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.R1132L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTGGGGGACCGGCTGGCAGAG 0.607000 13 28 2.62699e-14 4.00019e-14 1 1 0 MMP13 4322 broad.mit.edu 37 11 102816458 102816458 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:102816458A>G ENST00000260302.3 - 9 1260 c.1232T>C c.(1231-1233)aTt>aCt p.I411T MMP13_ENST00000340273.4_Missense_Mutation_p.I411T NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 411 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.I411T(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTTATCCATAATATGGTTAGT 0.303000 18 42 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76503840 76503840 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:76503840G>A ENST00000389840.5 - 28 4396 c.4272C>T c.(4270-4272)caC>caT p.H1424H DNAH17_ENST00000585328.1_Silent_p.H1425H dynein, axonemal, heavy chain 17 p.H1425H(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTGCGGCTCGTGCTGGAATT 0.552000 4 10 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19638462 19638462 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:19638462G>T ENST00000338326.3 + 5 1217 c.703G>T c.(703-705)Gaa>Taa p.E235* CHODL_ENST00000400135.1_Nonsense_Mutation_p.E235*|CHODL_ENST00000400127.1_3'UTR|CHODL_ENST00000543733.1_3'UTR|CHODL_ENST00000400128.1_3'UTR|CHODL_ENST00000400131.1_Nonsense_Mutation_p.E235*|CHODL_ENST00000299295.2_3'UTR Q9H9P2 CHODL_HUMAN chondrolectin 0 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding p.E235*(1) kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) TCTGCAAGATGAACTGTAAGC 0.343000 10 1 1.33987e-11 1.91003e-11 1 1 0 SEMA6A 57556 broad.mit.edu 37 5 115783135 115783135 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:115783135G>A ENST00000343348.6 - 19 3054 c.2267C>T c.(2266-2268)cCc>cTc p.P756L SEMA6A_ENST00000510263.1_Missense_Mutation_p.P756L|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P183L|SEMA6A_ENST00000282394.6_Missense_Mutation_p.P233L|SEMA6A_ENST00000503865.1_Missense_Mutation_p.P135L|SEMA6A_ENST00000257414.8_Missense_Mutation_p.P773L NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 756 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity p.P756L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CTCTGGGGTGGGGAGGGCCGT 0.627000 67 74 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30314606 30314606 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:30314606G>T ENST00000262643.3 + 12 1434 c.1155G>T c.(1153-1155)agG>agT p.R385S CCNE1_ENST00000444983.2_Missense_Mutation_p.R370S|CCNE1_ENST00000357943.5_Missense_Mutation_p.R342S NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 385 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity p.R385T(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) AACAAAATAGGGCTTCTCCTC 0.527000 A serous ovarian 17 39 5.03518e-11 7.02828e-11 1 1 0 MYRF 745 broad.mit.edu 37 11 61533653 61533653 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:61533653C>A ENST00000278836.5 + 3 454 c.358C>A c.(358-360)Ccc>Acc p.P120T MYRF_ENST00000265460.5_Missense_Mutation_p.P111T NM_001127392.1 NP_001120864.1 myelin regulatory factor p.P111T(1) GGGCACCGGGCCCCCCATCAA 0.692000 10 20 1.3612e-06 1.72077e-06 1 1 0 OR4X2 119764 broad.mit.edu 37 11 48267190 48267190 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:48267190C>A ENST00000302329.3 + 1 583 c.535C>A c.(535-537)Ctt>Att p.L179I NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L179I(1) breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCTTCTCAAACTTGCCTGCTC 0.478000 87 72 2.5963e-48 5.37997e-48 1 1 0 HTR1F 3355 broad.mit.edu 37 3 88040430 88040430 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:88040430C>A ENST00000319595.4 + 1 585 c.531C>A c.(529-531)gaC>gaA p.D177E NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 177 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity p.D177E(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCAAGCACGACCACATTGTTT 0.378000 27 8 7.76418e-22 1.33385e-21 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56651409 56651409 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr18:56651409G>T ENST00000336078.4 + 11 4393 c.3617G>T c.(3616-3618)cGg>cTg p.R1206L ZNF532_ENST00000591230.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000591083.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000589288.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000591808.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000588956.1_3'UTR NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1206L(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TACCAGTGCCGGGAGTGTGGC 0.532000 3 35 0.004672 0.00499506 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45355567 45355567 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:45355567C>G ENST00000359271.2 + 3 1603 c.1353C>G c.(1351-1353)tgC>tgG p.C451W NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 451 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity p.C451W(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TCGCCTTCTGCAACAGCTTCA 0.567000 6 153 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40962818 40962818 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:40962818C>A ENST00000361523.4 - 12 1445 c.1313G>T c.(1312-1314)tGg>tTg p.W438L BECN1_ENST00000590099.1_Missense_Mutation_p.W438L|CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000438274.3_3'UTR NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 438 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding p.W438L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) AGCAAGACCCCACTTAAGATT 0.428000 22 80 1.64293e-13 2.4644e-13 1 1 0 LIPH 200879 broad.mit.edu 37 3 185251403 185251403 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:185251403C>T ENST00000296252.4 - 3 623 c.482G>A c.(481-483)gGg>gAg p.G161E LIPH_ENST00000424591.2_Missense_Mutation_p.G161E NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 161 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity p.G161E(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCCAACAAACCCAGATATGTG 0.483000 22 47 0 0 1 0 0 NXF2B 728343 broad.mit.edu 37 X 101623732 101623732 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:101623732C>T ENST00000457521.2 - 19 2501 c.630G>A c.(628-630)aaG>aaA p.K210K NXF2B_ENST00000412230.2_Silent_p.K210K|NXF2B_ENST00000372750.1_Silent_p.K210K|NXF2B_ENST00000372749.1_Silent_p.K210K|NXF2B_ENST00000372752.1_Silent_p.K122K nuclear RNA export factor 2B p.K210K(1) breast(1)|kidney(1)|lung(4)|ovary(1) 7 TTTGGCCTGGCTTCAACTTAT 0.483000 18 33 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85946755 85946755 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:85946755A>G ENST00000268638.5 + 5 888 c.466A>G c.(466-468)Atg>Gtg p.M156V NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 156 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.M156V(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GGACGATTACATGGGGATGAT 0.602000 32 60 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329319 23329319 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:23329319G>T ENST00000597761.2 + 4 1672 c.1473G>T c.(1471-1473)cgG>cgT p.R491R NM_001277403.1 NP_001264332.1 zinc finger protein 730 p.R491R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 CCTTTAGGCGGTTCTCACACC 0.348000 2 3 0.0016 0.00175738 1 1 0 CCNE1 898 broad.mit.edu 37 19 30314605 30314605 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:30314605G>C ENST00000262643.3 + 12 1433 c.1154G>C c.(1153-1155)aGg>aCg p.R385T CCNE1_ENST00000444983.2_Missense_Mutation_p.R370T|CCNE1_ENST00000357943.5_Missense_Mutation_p.R342T NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 385 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity p.R385T(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) GAACAAAATAGGGCTTCTCCT 0.527000 A serous ovarian 17 39 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83170879 83170879 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:83170879G>T ENST00000398309.2 - 23 3065 c.2595C>A c.(2593-2595)ccC>ccA p.P865P DLG2_ENST00000543673.1_Silent_p.P970P|DLG2_ENST00000376104.2_Silent_p.P970P|DLG2_ENST00000537455.1_Silent_p.P615P|DLG2_ENST00000524982.1_Silent_p.P861P|DLG2_ENST00000426717.2_Silent_p.P329P|DLG2_ENST00000330014.6_Silent_p.P786P|DLG2_ENST00000404783.3_Silent_p.P343P|DLG2_ENST00000418306.2_Silent_p.P744P|DLG2_ENST00000376106.3_Silent_p.P329P|DLG2_ENST00000280241.8_Silent_p.P904P|DLG2_ENST00000532653.1_Silent_p.P847P NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 865 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.P744P(1)|p.P865P(1)|p.P970P(1)|p.P904P(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTTCCTTTGAGGGAATCCAGA 0.353000 19 46 2.37509e-13 3.53625e-13 1 1 0 EP300 2033 broad.mit.edu 37 22 41568503 41568503 + Splice_Site SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr22:41568503G>T ENST00000263253.7 + 28 5672 c.4452_splice c.e28-1 p.D1485_splice RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1485 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1485Y(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GTTTTCACAGGATATTTTTAA 0.323000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 5 18 0.0293803 0.0301298 1 1 0 TMEM225 338661 broad.mit.edu 37 11 123756006 123756006 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:123756006C>T ENST00000375026.2 - 1 343 c.127G>A c.(127-129)Gcc>Acc p.A43T NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 43 integral to membrane p.A43T(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTCATCTTGGCTCTTTCATCT 0.463000 25 46 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 10 1.49906e-05 1.79352e-05 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21628977 21628977 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:21628977T>C ENST00000328843.6 + 12 2156 c.2125T>C c.(2125-2127)Ttc>Ctc p.F709L DNAH11_ENST00000409508.3_Missense_Mutation_p.F709L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 709 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F709L(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTGGTTAAATTCAGTGCCAT 0.323000 Kartagener syndrome 21 63 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175622341 175622341 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:175622341G>C ENST00000348749.5 - 4 374 c.297C>G c.(295-297)caC>caG p.H99Q CHRNA1_ENST00000261007.5_Missense_Mutation_p.H124Q|CHRNA1_ENST00000409323.1_Missense_Mutation_p.H99Q|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.H99Q NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 124 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.H124Q(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 CTGAAGGAATGTGAATTTTTT 0.438000 38 36 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791618 8791618 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:8791618C>T ENST00000447110.1 - 10 1610 c.1486G>A c.(1486-1488)Gct>Act p.A496T PIK3R5_ENST00000581552.1_Missense_Mutation_p.A496T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A496T NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 496 platelet activation cytosol|membrane|nucleus p.A496T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GGGCGTGAAGCAGGGGCCAGA 0.662000 16 28 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120095077 120095077 + Missense_Mutation SNP C C T rs148686616 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:120095077C>T ENST00000369183.4 - 4 570 c.311G>A c.(310-312)cGc>cAc p.R104H FAM204A_ENST00000369172.4_Missense_Mutation_p.R104H|FAM204A_ENST00000469758.1_5'UTR NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 104 p.R104H(1) kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 TTTTCTGGAGCGTTTTCTTCT 0.303000 22 12 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185985107 185985107 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:185985107G>T ENST00000271588.4 + 32 5156 c.4927G>T c.(4927-4929)Ggc>Tgc p.G1643C HMCN1_ENST00000367492.2_Missense_Mutation_p.G1643C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1643 Ig-like C2-type 14. response to stimulus|visual perception basement membrane calcium ion binding p.G1643C(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATGATTGAAGGCAACTTGGC 0.403000 38 50 5.73237e-09 7.68137e-09 1 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28315732 28315732 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:28315732C>A ENST00000284987.5 - 3 1493 c.1372G>T c.(1372-1374)Gcc>Tcc p.A458S NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 458 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.A458S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GTGATGGTGGCTGAAGTGCAT 0.423000 11 20 3.07112e-06 3.76399e-06 1 1 0 ATM 472 broad.mit.edu 37 11 108153446 108153446 + Nonsense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:108153446A>T ENST00000278616.4 + 25 3971 c.3586A>T c.(3586-3588)Aaa>Taa p.K1196* ATM_ENST00000452508.2_Nonsense_Mutation_p.K1196* NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1196 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.K1196*(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGTTTTAGAGAAAGTTTCTGA 0.289000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 47 18 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22369186 22369186 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:22369186G>T ENST00000332663.2 + 1 709 c.611G>T c.(610-612)gGt>gTt p.G204V RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G204V(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTAGTAGTGGTCTGATCTCT 0.468000 77 30 2.02726e-29 3.84415e-29 1 1 0 DLGAP2 9228 broad.mit.edu 37 8 1496873 1496873 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1496873C>A ENST00000421627.2 + 2 148 c.14C>A c.(13-15)tCc>tAc p.S5Y NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 84 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.S27Y(1)|p.S49Y(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AAGGGCCTTTCCGGAAGTCGG 0.687000 6 9 2.0095e-06 2.52443e-06 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228554800 228554800 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:228554800G>T ENST00000570156.2 + 97 22497 c.22423G>T c.(22423-22425)Gcg>Tcg p.A7475S OBSCN_ENST00000366707.4_Missense_Mutation_p.A4152S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6518S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6518 Ig-like 55. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.A7230S(1)|p.A7100S(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CATCCTGGCCGCGCTGAGCCA 0.612000 5 6 4.096e-09 5.56281e-09 1 1 0 MUC17 140453 broad.mit.edu 37 7 100682994 100682994 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:100682994C>G ENST00000306151.4 + 3 8361 c.8297C>G c.(8296-8298)tCt>tGt p.S2766C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2766 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S2766C(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGCCAGTTCTGAGGCTAGC 0.493000 154 131 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408221 30408221 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:30408221G>A ENST00000375994.2 + 2 618 c.345G>A c.(343-345)caG>caA p.Q115Q MYLK2_ENST00000375985.4_Silent_p.Q115Q Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 115 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity p.Q115Q(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGCTGAGCAGGGAGCCTCAG 0.692000 23 33 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741968 140741968 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140741968G>T ENST00000522605.1 + 1 2266 c.2266G>T c.(2266-2268)Gtt>Ttt p.V756F PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.V756F(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCTGTGTGTTGCCTCACA 0.507000 80 62 6.11987e-43 1.2552e-42 1 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67322099 67322099 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:67322099G>T ENST00000360461.5 + 19 5785 c.3250G>T c.(3250-3252)Gcc>Tcc p.A1084S PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A1084S|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A1003S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A1084S NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1084 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.A1084S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CATTGCCGTAGCCCCGTTTGA 0.607000 18 61 1.01871e-10 1.40247e-10 1 1 0 OR2T2 401992 broad.mit.edu 37 1 248616264 248616264 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:248616264C>A ENST00000342927.3 + 1 188 c.166C>A c.(166-168)Ctc>Atc p.L56I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L56I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACTCCCGCCTCCACACACC 0.512000 4 86 5.9392e-07 7.65243e-07 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25468195 25468195 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:25468195C>G ENST00000264709.3 - 13 1818 c.1481G>C c.(1480-1482)tGc>tCc p.C494S DNMT3A_ENST00000402667.1_Missense_Mutation_p.C271S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C305S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C494S NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 494 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.C305S(1)|p.C494S(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGAGATGCAGATGTCTGG 0.602000 """Mis, F, N, S""" AML 9 15 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241536200 241536200 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:241536200G>T ENST00000391984.2 + 9 1780 c.1584G>T c.(1582-1584)acG>acT p.T528T CAPN10_ENST00000404753.3_Silent_p.T528T|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 528 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding p.T528T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TCGGCCAGACGGCGGGGGGCA 0.701000 27 26 2.24059e-21 3.81661e-21 1 1 0 TMEM255B 348013 broad.mit.edu 37 13 114507949 114507949 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr13:114507949G>T ENST00000375353.3 + 8 788 c.761G>T c.(760-762)cGc>cTc p.R254L TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B p.R254L(1) GCAGGCTTCCGCCTGACGCCC 0.677000 36 7 6.2361e-21 1.03591e-20 1 1 0 ABCA3 21 broad.mit.edu 37 16 2338079 2338079 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:2338079C>A ENST00000301732.5 - 21 3652 c.2952G>T c.(2950-2952)gaG>gaT p.E984D ABCA3_ENST00000382381.3_Missense_Mutation_p.E926D NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 984 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E984D(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTTTCAGATGCTCTGACAGCT 0.677000 5 7 1.23904e-05 1.4913e-05 1 1 0 SH3BP1 23616 broad.mit.edu 37 22 38046636 38046636 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr22:38046636C>T ENST00000599616.1 + 14 1310 c.1310C>T c.(1309-1311)tCc>tTc p.S437F Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S501F Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 501 Rho-GAP. signal transduction cytoplasm GTPase activator activity|SH3 domain binding p.S501F(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GAACTTCCGTCCACTGCCGTG 0.622000 15 32 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567018 223567018 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:223567018C>A ENST00000366875.3 + 1 304 c.201C>A c.(199-201)acC>acA p.T67T NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 67 p.T67T(1) breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GTTCGTTCACCCCGCGGCCTC 0.721000 10 12 6.40141e-05 7.39473e-05 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50779824 50779824 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:50779824G>T ENST00000404971.1 - 10 3119 c.1780C>A c.(1780-1782)Ctg>Atg p.L594M NRXN1_ENST00000402717.3_Missense_Mutation_p.L546M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L554M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L554M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.L554M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L546M NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 554 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.L595M(1)|p.L594M(1)|p.L554M(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCATGTCCAGGAGGAGGTAG 0.473000 58 83 9.59835e-30 1.8374e-29 1 1 0 PARP9 83666 broad.mit.edu 37 3 122259566 122259566 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:122259566C>G ENST00000462315.1 - 8 1811 c.1518G>C c.(1516-1518)caG>caC p.Q506H PARP9_ENST00000492382.1_Missense_Mutation_p.Q86H|PARP9_ENST00000360356.2_Missense_Mutation_p.Q541H|PARP9_ENST00000471785.1_Missense_Mutation_p.Q506H|PARP9_ENST00000477522.2_Missense_Mutation_p.Q506H NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 541 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.Q541H(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TGTGGTGGTTCTGGAGACTCA 0.443000 6 98 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103907704 103907704 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:103907704C>A ENST00000302259.3 + 1 397 c.154C>A c.(154-156)Cga>Aga p.R52R PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 52 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity p.R52R(2) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCACATGGAGCGACTCCTCAT 0.572000 62 25 5.10508e-28 9.41396e-28 1 1 0 MAP3K19 80122 broad.mit.edu 37 2 135756462 135756462 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:135756462G>T ENST00000375845.3 - 5 450 c.420C>A c.(418-420)ccC>ccA p.P140P MAP3K19_ENST00000392915.1_Silent_p.P157P|MAP3K19_ENST00000392917.3_Silent_p.P140P|MAP3K19_ENST00000392918.3_Silent_p.P140P|MAP3K19_ENST00000375844.3_Silent_p.P140P|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.P140P(1) GCAAAACTAAGGGCCGCATGG 0.433000 11 43 3.07112e-06 3.76399e-06 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 14 1 1 1 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745683 77745683 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:77745683T>C ENST00000409088.3 - 3 1726 c.1312A>G c.(1312-1314)Atg>Gtg p.M438V LRRTM4_ENST00000409093.1_Missense_Mutation_p.M438V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M438V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M439V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M439V NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 438 integral to membrane p.M438V(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AAGAGGATCATGGCCACTGAG 0.493000 39 33 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804516 22804516 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr18:22804516C>T ENST00000361524.3 - 4 3514 c.3366G>A c.(3364-3366)gaG>gaA p.E1122E ZNF521_ENST00000538137.2_Silent_p.E1122E|ZNF521_ENST00000584787.1_Silent_p.E902E NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1122 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.E1122E(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CACTCAGATTCTCATTCTGGC 0.547000 T PAX5 ALL 22 16 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32453386 32453386 + Silent SNP G G T rs147561043 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:32453386G>T ENST00000341377.5 + 2 658 c.141G>T c.(139-141)tcG>tcT p.S47S NRG1_ENST00000356819.4_Silent_p.S47S|NRG1_ENST00000338921.4_Silent_p.S47S|NRG1_ENST00000287845.5_Silent_p.S47S|NRG1_ENST00000405005.2_Silent_p.S47S|NRG1_ENST00000519301.1_Silent_p.S26S|NRG1_ENST00000287842.3_Silent_p.S47S|NRG1_ENST00000287840.5_Silent_p.S47S|NRG1_ENST00000521670.1_Silent_p.S47S|NRG1_ENST00000520407.1_Silent_p.S262S|NRG1_ENST00000523079.1_Silent_p.S47S Q02297 NRG1_HUMAN neuregulin 1 47 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity p.S47S(2)|p.S262S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCCAGGAATCGGCTGCAGGTT 0.413000 57 34 9.59835e-30 1.8374e-29 1 1 0 CEP70 80321 broad.mit.edu 37 3 138219359 138219359 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:138219359G>A ENST00000264982.3 - 15 1685 c.1419C>T c.(1417-1419)ttC>ttT p.F473F CEP70_ENST00000542237.1_Silent_p.F453F|CEP70_ENST00000489254.1_Silent_p.F321F|CEP70_ENST00000484888.1_Silent_p.F473F|CEP70_ENST00000481834.1_Silent_p.F473F NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 473 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding p.F473F(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 ATAACTTTTGGAAGTGAGAAA 0.353000 88 125 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47556403 47556403 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:47556403G>T ENST00000397748.1 - 15 1727 c.1684C>A c.(1684-1686)Cca>Aca p.P562T FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.P562T|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000291670.5_3'UTR O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 0 folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GCTGTCCCTGGGGTTTCTGTC 0.622000 15 3 4.14922e-12 5.99995e-12 1 1 0 LRRC32 2615 broad.mit.edu 37 11 76372262 76372262 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:76372262G>A ENST00000407242.2 - 3 617 c.375C>T c.(373-375)cgC>cgT p.R125R LRRC32_ENST00000404995.1_Silent_p.R125R|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.R125R NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 125 integral to plasma membrane p.R125R(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GGGAGGTCACGCGTGGCAGGG 0.692000 32 34 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346861 71346861 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:71346861C>A ENST00000413702.1 + 4 688 c.400C>A c.(400-402)Cag>Aag p.Q134K MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.Q134K|MUC7_ENST00000304887.5_Missense_Mutation_p.Q134K NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 134 Thr-rich. extracellular region protein binding p.Q134K(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TTTTCTTCCCCAGAATGCCAC 0.453000 38 59 4.32679e-17 6.95748e-17 1 1 0 MYH13 8735 broad.mit.edu 37 17 10212976 10212976 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:10212976G>A ENST00000418404.3 - 33 4991 c.4828C>T c.(4828-4830)Cgc>Tgc p.R1610C MYH13_ENST00000570743.1_Missense_Mutation_p.R1610C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1610C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1610 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.R1610C(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCCGGCTGCGGATTTCAGCA 0.552000 6 11 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497586 1497586 + Missense_Mutation SNP G G T rs145069342 by1000genomes TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1497586G>T ENST00000421627.2 + 2 861 c.727G>T c.(727-729)Gtg>Ttg p.V243L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 322 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.V287L(1)|p.V265L(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCTGGGCCCCGTGGCCCACTG 0.677000 47 67 4.6707e-30 9.11467e-30 1 1 0 GALNT5 11227 broad.mit.edu 37 2 158142621 158142621 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:158142621G>T ENST00000259056.4 + 3 2201 c.1716G>T c.(1714-1716)agG>agT p.R572S NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 572 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R572S(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TAAGGGCCAGGCTGGCAGGAG 0.343000 9 40 5.16669e-11 7.1621e-11 1 1 0 MYBL2 4605 broad.mit.edu 37 20 42331478 42331478 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:42331478G>T ENST00000217026.4 + 8 1427 c.1300G>T c.(1300-1302)Gat>Tat p.D434Y MYBL2_ENST00000396863.4_Missense_Mutation_p.D410Y NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 434 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.D434Y(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GTCCTTCCTGGATTCCTGTAA 0.602000 23 46 4.16121e-05 4.8347e-05 1 1 0 RIPK4 54101 broad.mit.edu 37 21 43187057 43187057 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:43187057C>T ENST00000352483.2 - 1 209 c.145G>A c.(145-147)Gcc>Acc p.A49T RIPK4_ENST00000332512.3_Missense_Mutation_p.A49T Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 49 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.A49T(2) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CACTTGATGGCCAGCCAGGTC 0.731000 9 7 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141833894 141833894 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:141833894G>A ENST00000477922.3 + 7 743 c.689G>A c.(688-690)cGc>cAc p.R230H RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.R230H p.R230H(2) endometrium(1)|lung(5) 6 CAGCAGTACCGCCACAATATG 0.587000 7 12 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588899 140588899 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140588899A>T ENST00000239450.2 + 1 609 c.420A>T c.(418-420)ttA>ttT p.L140F PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 140 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L140F(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) AAATGCTCTTAGAAATCCCAG 0.388000 54 48 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6306758 6306758 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:6306758G>T ENST00000301452.4 - 6 839 c.762C>A c.(760-762)taC>taA p.Y254* NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 254 endoplasmic reticulum membrane|integral to membrane ceramidase activity p.Y254*(1) NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GGATTTCCACGTAGGGCAGCC 0.577000 13 3 2.23348e-06 2.77117e-06 1 1 0 OR2C1 4993 broad.mit.edu 37 16 3406340 3406340 + Missense_Mutation SNP G G A rs147461021 byFrequency TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:3406340G>A ENST00000304936.2 + 1 452 c.400G>A c.(400-402)Gcc>Acc p.A134T NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A134T(1) kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCGCTACACCGCCATCATGAA 0.612000 14 27 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64114274 64114274 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:64114274G>C ENST00000371083.4 + 8 1653 c.1285G>C c.(1285-1287)Gac>Cac p.D429H PGM1_ENST00000540265.1_Missense_Mutation_p.D214H|PGM1_ENST00000371084.3_Missense_Mutation_p.D411H NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 411 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity p.D429H(1)|p.D411H(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GAGTGTGGAGGACATTCTCAA 0.562000 3 44 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102189285 102189285 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:102189285G>T ENST00000306176.1 + 9 1129 c.1029G>T c.(1027-1029)tgG>tgT p.W343C ZPLD1_ENST00000466937.1_Missense_Mutation_p.W327C|ZPLD1_ENST00000491959.1_Missense_Mutation_p.W327C NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 327 integral to membrane p.W343C(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GGACGACTTGGAGCCCCCAGA 0.507000 17 7 5.03518e-11 7.02828e-11 1 1 0 SEC23A 10484 broad.mit.edu 37 14 39560913 39560913 + Missense_Mutation SNP C C A rs148560912 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:39560913C>A ENST00000307712.6 - 5 888 c.371G>T c.(370-372)gGt>gTt p.G124V SEC23A_ENST00000536508.1_5'UTR|SEC23A_ENST00000545328.2_Missense_Mutation_p.G95V NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 124 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding p.G124V(1) kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CATCTGAGGACCACGCTTTTA 0.343000 35 34 9.45814e-24 1.66762e-23 1 1 0 TRIM49 57093 broad.mit.edu 37 11 89531774 89531774 + Nonsense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:89531774C>A ENST00000329758.1 - 8 1211 c.883G>T c.(883-885)Gaa>Taa p.E295* TRIM49_ENST00000532501.2_Nonsense_Mutation_p.E218* NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 295 B30.2/SPRY. intracellular zinc ion binding p.E295*(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGTTGGCTTCTTCATGATGC 0.308000 8 19 1.06961e-07 1.39605e-07 1 1 0 SPNS3 201305 broad.mit.edu 37 17 4337281 4337281 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:4337281G>T ENST00000355530.2 + 1 299 c.19G>T c.(19-21)Gcg>Tcg p.A7S SPNS3_ENST00000333476.2_5'UTR|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 7 lipid transport|transmembrane transport integral to membrane p.A7S(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GGGGATGTCAGCGGAGTGCCC 0.667000 6 8 8.12818e-05 9.28276e-05 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34150162 34150162 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:34150162G>T ENST00000346193.3 - 1 285 c.234C>A c.(232-234)ctC>ctA p.L78L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 78 p.L78L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ATATTTTGGGGAGTAAAAACT 0.542000 20 45 2.94398e-08 3.91881e-08 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57769769 57769769 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:57769769C>A ENST00000371030.2 + 1 3695 c.3695C>A c.(3694-3696)aCc>aAc p.T1232N NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1232 intracellular nucleic acid binding|zinc ion binding p.T1232N(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGAGGATGGACCTGGACAAGC 0.602000 6 41 0.0215528 0.0224461 1 1 0 PAPD4 167153 broad.mit.edu 37 5 78964730 78964730 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:78964730G>T ENST00000453514.1 + 12 1780 c.1087G>T c.(1087-1089)Gct>Tct p.A363S PAPD4_ENST00000296783.3_Missense_Mutation_p.A363S|PAPD4_ENST00000428308.2_Missense_Mutation_p.A363S|PAPD4_ENST00000504233.1_Missense_Mutation_p.A320S|PAPD4_ENST00000423041.2_Missense_Mutation_p.A359S NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 363 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity p.A363S(1) biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TTTTAGTCCTGCTATACAGCT 0.393000 92 163 1.66795e-42 3.38644e-42 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 4 3 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190554683 190554683 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:190554683T>C ENST00000520309.1 + 3 1120 c.1032T>C c.(1030-1032)ccT>ccC p.P344P ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Silent_p.P344P NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 344 integral to membrane binding p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1) breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGCTTCAGCCTTTTTCAGGTA 0.289000 3 65 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 3 17 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24511534 24511534 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:24511534C>A ENST00000264463.4 - 6 1411 c.904G>T c.(904-906)Gct>Tct p.A302S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 302 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A302S(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCTACTTCAGCATTTTTCCCA 0.428000 HNSCC(23;0.051) 26 104 7.92952e-12 1.13845e-11 1 1 0 RASAL1 8437 broad.mit.edu 37 12 113554954 113554954 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:113554954G>T ENST00000546530.1 - 9 940 c.655C>A c.(655-657)Cca>Aca p.P219T RASAL1_ENST00000446861.3_Missense_Mutation_p.P219T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P219T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.P219T NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 219 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity p.P219T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGGGTCTTTGGAGAGAACTCC 0.612000 25 16 1.2476e-16 1.99022e-16 1 1 0 KRT12 3859 broad.mit.edu 37 17 39021155 39021155 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:39021155C>T ENST00000251643.4 - 3 733 c.710G>A c.(709-711)cGg>cAg p.R237Q NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 237 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity p.R237Q(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) GTCCAGCACCCGGCGCAGGCC 0.572000 36 114 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717423 13717423 + Splice_Site SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:13717423C>A ENST00000265104.4 - 73 12810 c.e73+1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.?(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCGGCAGTACCTTTTTGACA 0.493000 Kartagener syndrome 13 19 4.7546e-09 6.41393e-09 1 1 0 AMBRA1 55626 broad.mit.edu 37 11 46419198 46419198 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:46419198C>A ENST00000458649.2 - 18 4117 c.3699G>T c.(3697-3699)tgG>tgT p.W1233C AMBRA1_ENST00000298834.3_Missense_Mutation_p.W1173C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.W1204C|AMBRA1_ENST00000534300.1_Missense_Mutation_p.W1173C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.W1114C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.W1204C|AMBRA1_ENST00000314845.3_Missense_Mutation_p.W1143C Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1233 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle p.W1233C(1)|p.W1143C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CAGGCTGGTCCCAGGAAGCTG 0.687000 17 5 3.32936e-07 4.31743e-07 1 1 0 AMELY 266 broad.mit.edu 37 Y 6736166 6736166 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrY:6736166A>T ENST00000215479.5 - 5 552 c.485T>A c.(484-486)aTg>aAg p.M162K AMELY_ENST00000383037.4_Missense_Mutation_p.M176K|AMELY_ENST00000383036.1_Missense_Mutation_p.M176K NM_001143.1 NP_001134.1 Q99218 AMELY_HUMAN amelogenin, Y-linked 176 Gln-rich. biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel p.M162K(1) NS(1)|lung(5) 6 CAGGGGGAACATTGGAGGCAG 0.627000 2 2 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24419571 24419571 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:24419571C>A ENST00000330966.7 - 10 1121 c.959G>T c.(958-960)cGg>cTg p.R320L MYOM3_ENST00000329601.7_Missense_Mutation_p.R319L|MYOM3_ENST00000374434.3_Missense_Mutation_p.R319L|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 319 Ig-like C2-type 2. p.R319L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAGGATCTTCCGACGTCTCGA 0.622000 18 3 6.33239e-15 9.79084e-15 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25468194 25468194 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:25468194G>A ENST00000264709.3 - 13 1819 c.1482C>T c.(1480-1482)tgC>tgT p.C494C DNMT3A_ENST00000402667.1_Silent_p.C271C|DNMT3A_ENST00000380746.4_Silent_p.C305C|DNMT3A_ENST00000321117.5_Silent_p.C494C NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 494 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.C305S(1)|p.C494S(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACAGGAGATGCAGATGTCTG 0.602000 """Mis, F, N, S""" AML 8 17 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37537272 37537272 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:37537272C>T ENST00000432825.2 - 3 1302 c.1254G>A c.(1252-1254)aaG>aaA p.K418K RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 418 ubiquitin ligase complex ubiquitin-protein ligase activity p.K418K(1) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCATGGCCTCCTTATCCTTCT 0.627000 13 20 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156964936 156964936 + Silent SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:156964936G>C ENST00000257527.4 - 4 393 c.315C>G c.(313-315)acC>acG p.T105T ADAM19_ENST00000517905.1_Silent_p.T105T|ADAM19_ENST00000394020.1_Silent_p.T107T|ADAM19_ENST00000430702.2_5'UTR NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 105 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.T105T(1)|p.T106T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTTCCGTGTGGTGGTTTGAG 0.443000 14 30 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9948463 9948463 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:9948463A>T ENST00000454190.2 + 5 525 c.440A>T c.(439-441)cAc>cTc p.H147L IL17RE_ENST00000421412.1_Missense_Mutation_p.H180L|IL17RE_ENST00000295980.3_Missense_Mutation_p.H147L|IL17RE_ENST00000383814.3_Missense_Mutation_p.H147L NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 147 cytoplasm|extracellular region|integral to membrane receptor activity p.H147L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GACATCTCCCACAAGGGACTT 0.542000 6 88 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747003 158747003 + Missense_Mutation SNP A A C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:158747003A>C ENST00000339258.1 - 1 422 c.423T>G c.(421-423)tgT>tgG p.C141W NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C141W(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CCATCTTGGCACAGAGTGTGG 0.502000 16 59 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64061909 64061909 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:64061909G>T ENST00000324472.4 - 1 448 c.265C>A c.(265-267)Ctg>Atg p.L89M RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 89 multicellular organismal development|spermatid development integral to membrane p.L89M(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AGCTGCGCCAGGGAATTACGG 0.607000 74 52 1.45978e-39 2.90511e-39 1 1 0 DLG2 1740 broad.mit.edu 37 11 83177805 83177805 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:83177805G>T ENST00000398309.2 - 21 2830 c.2360C>A c.(2359-2361)gCc>gAc p.A787D DLG2_ENST00000543673.1_Missense_Mutation_p.A892D|DLG2_ENST00000376104.2_Missense_Mutation_p.A892D|DLG2_ENST00000537455.1_Missense_Mutation_p.A537D|DLG2_ENST00000524982.1_Missense_Mutation_p.A783D|DLG2_ENST00000426717.2_Missense_Mutation_p.A251D|DLG2_ENST00000330014.6_Missense_Mutation_p.A708D|DLG2_ENST00000531015.1_Missense_Mutation_p.A754D|DLG2_ENST00000404783.3_Missense_Mutation_p.A265D|DLG2_ENST00000418306.2_Missense_Mutation_p.A666D|DLG2_ENST00000376106.3_Missense_Mutation_p.A251D|DLG2_ENST00000280241.8_Missense_Mutation_p.A826D|DLG2_ENST00000532653.1_Missense_Mutation_p.A769D NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 787 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding p.A787D(1)|p.A826D(1)|p.A666D(1)|p.A892D(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATAGAGCTGGGCAACTTGTAA 0.433000 19 64 1.45105e-14 2.22642e-14 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126085512 126085512 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:126085512G>A ENST00000318410.7 - 9 1382 c.1033C>T c.(1033-1035)Cta>Tta p.L345L KIAA0196_ENST00000517845.1_Silent_p.L197L NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 345 cell death WASH complex p.L345L(1) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCTTCTTTTAGAAATTGCTGC 0.398000 13 56 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36873066 36873066 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:36873066G>T ENST00000325718.7 + 10 1574 c.1483G>T c.(1483-1485)Gcc>Tcc p.A495S CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 495 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding p.A495S(1) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GGGCCCAGCTGCCCCATCCTT 0.662000 T MLL AL 5 25 3.59834e-05 4.22962e-05 1 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 144 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176284 140176284 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140176284G>T ENST00000526136.1 + 1 1735 c.1735G>T c.(1735-1737)Gag>Tag p.E579* PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.E579*|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.E579*|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 p.E579*(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGTGAGTGAGCTGGTGCC 0.662000 39 34 2.35958e-20 3.88751e-20 1 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343661 38343661 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:38343661T>C ENST00000374618.3 + 5 787 c.609T>C c.(607-609)caT>caC p.H203H ZNF33A_ENST00000432900.2_Silent_p.H209H|ZNF33A_ENST00000307441.9_Silent_p.H202H|ZNF33A_ENST00000458705.2_Silent_p.H202H|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 202 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H202H(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TGAGTCATCATGAGGAGACTT 0.348000 19 65 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149584134 149584134 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:149584134G>T ENST00000230671.2 + 11 1743 c.1372G>T c.(1372-1374)Gcc>Tcc p.A458S SLC6A7_ENST00000524041.1_Missense_Mutation_p.A458S NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 458 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity p.A458S(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGACTACAGCGCCAGCTTCGG 0.592000 8 32 0.0381472 0.0389218 1 1 0 PZP 5858 broad.mit.edu 37 12 9305844 9305844 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:9305844C>T ENST00000261336.2 - 30 3898 c.3870G>A c.(3868-3870)caG>caA p.Q1290Q PZP_ENST00000381997.2_Silent_p.Q1076Q NM_002864.2 NP_002855.2 pregnancy-zone protein p.Q1076Q(1)|p.Q1290Q(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TAGAAAAGGTCTGTGAATCCT 0.478000 30 85 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428901 135428901 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:135428901T>C ENST00000394143.1 + 6 3327 c.3036T>C c.(3034-3036)acT>acC p.T1012T GPR112_ENST00000287534.4_Silent_p.T949T|GPR112_ENST00000412101.1_Silent_p.T807T|GPR112_ENST00000394141.1_Silent_p.T807T|GPR112_ENST00000370652.1_Silent_p.T1012T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1012 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T1012T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGCCTGTTACTCATATGTTCT 0.507000 103 19 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86042158 86042158 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:86042158G>A ENST00000414626.2 + 10 2460 c.1571G>A c.(1570-1572)aGa>aAa p.R524K LRRCC1_ENST00000360375.3_Missense_Mutation_p.R544K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 544 cell division|mitosis centriole|nucleus p.R544K(1)|p.R524K(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ACTCAGATAAGACTGATCCAA 0.373000 4 99 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386480 118386480 + RNA SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:118386480G>T ENST00000537242.1 + 0 462 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity p.E146*(2) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) TGTTGGGGCGGAGACAGCTTT 0.577000 5 1 0.184627 0.186483 1 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55331209 55331209 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:55331209C>T ENST00000391728.4 + 4 430 c.397C>T c.(397-399)Ctg>Ttg p.L133L KIR3DL1_ENST00000538269.1_Silent_p.L133L|KIR3DL1_ENST00000326542.7_Silent_p.L133L|KIR3DL1_ENST00000541392.1_Silent_p.L133L|KIR3DL1_ENST00000358178.4_Silent_p.L38L|KIR3DL1_ENST00000402254.2_Silent_p.L133L NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.L133L(2) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCCAGGTCCCCTGGTGAAATC 0.488000 40 29 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76162966 76162966 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:76162966G>T ENST00000529032.1 + 2 135 c.135G>T c.(133-135)aaG>aaT p.K45N C11orf30_ENST00000525919.1_Missense_Mutation_p.K45N|C11orf30_ENST00000533988.1_Missense_Mutation_p.K45N|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524490.1_Missense_Mutation_p.K45N|C11orf30_ENST00000533248.1_Missense_Mutation_p.K45N|C11orf30_ENST00000524767.1_Missense_Mutation_p.K45N|C11orf30_ENST00000525038.1_Missense_Mutation_p.K45N|C11orf30_ENST00000334736.3_Missense_Mutation_p.K45N|C11orf30_ENST00000343878.3_Missense_Mutation_p.K45N Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 45 ENT.|Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.K45N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CCAAGGAAAAGAAAGATCTTC 0.348000 17 12 8.10497e-08 1.06477e-07 1 1 0 NANOG 79923 broad.mit.edu 37 12 7942298 7942298 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:7942298G>A ENST00000229307.4 + 1 307 c.88G>A c.(88-90)Ggg>Agg p.G30R NANOG_ENST00000526286.1_Missense_Mutation_p.G30R NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 30 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G30R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) TGTGATTTGTGGGCCTGAAGA 0.448000 43 78 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60913645 60913645 + Silent SNP T T A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:60913645T>A ENST00000252999.3 - 12 1563 c.1497A>T c.(1495-1497)gcA>gcT p.A499A NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 499 Laminin EGF-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding p.A499A(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGGTCCCTGCCGCGCTGC 0.647000 10 6 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559087 1559087 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:1559087G>T ENST00000381605.4 - 2 394 c.330C>A c.(328-330)atC>atA p.I110I SIRPB1_ENST00000381603.3_Silent_p.I110I|SIRPB1_ENST00000262929.5_Silent_p.I109I|RP4-576H24.4_ENST00000564763.1_Silent_p.I110I NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 110 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.I110I(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTGGGGTGATGTTACTGA 0.502000 39 83 2.58029e-29 4.84708e-29 1 1 0 KCNH1 3756 broad.mit.edu 37 1 211276891 211276891 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:211276891G>A ENST00000367007.4 - 3 426 c.257C>T c.(256-258)aCa>aTa p.T86I KCNH1_ENST00000271751.4_Missense_Mutation_p.T86I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 86 PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.T86I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTTCTCAAATGTTTGCCGCAC 0.338000 15 57 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143055984 143055984 + Silent SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:143055984C>G ENST00000409408.1 - 4 2026 c.318G>C c.(316-318)gtG>gtC p.V106V FAM131B_ENST00000409578.1_Silent_p.V122V|FAM131B_ENST00000443739.2_Silent_p.V134V|FAM131B_ENST00000409222.3_Silent_p.V106V|FAM131B_ENST00000409346.1_Silent_p.V106V Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 106 p.V106V(1)|p.V134V(1) breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TATCCCTGCGCACGGACTCAT 0.592000 15 22 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66231689 66231689 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:66231689C>G ENST00000273854.3 - 11 2611 c.2011G>C c.(2011-2013)Gaa>Caa p.E671Q EPHA5_ENST00000354839.4_Missense_Mutation_p.E649Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.E508Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.E672Q NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 671 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.E671Q(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CATGATGCTTCTATCTCCTTA 0.358000 TSP Lung(17;0.13) 46 40 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717424 13717424 + Splice_Site SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:13717424C>A ENST00000265104.4 - 73 12809 c.12705_splice c.e73+1 p.K4235_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4235 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.?(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCGGCAGTACCTTTTTGACAT 0.498000 Kartagener syndrome 13 19 6.31663e-08 8.35291e-08 1 1 0 WNT9B 7484 broad.mit.edu 37 17 44950100 44950100 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:44950100A>T ENST00000393461.2 + 2 348 c.295A>T c.(295-297)Aac>Tac p.N99Y WNT9B_ENST00000290015.2_Missense_Mutation_p.N99Y O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 99 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding p.N99Y(1)|p.N105Y(1) large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) TGAGCGCTGGAACTGTAGCCT 0.672000 4 24 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869776 151869776 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:151869776G>T ENST00000329342.5 + 3 691 c.466G>T c.(466-468)Gat>Tat p.D156Y NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 156 MAGE. protein binding p.D156Y(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGCTTCCGATTCCTTGCA 0.552000 61 9 1.27862e-28 2.37965e-28 1 1 0 NUFIP1 26747 broad.mit.edu 37 13 45523952 45523952 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr13:45523952G>T ENST00000379161.4 - 8 1089 c.1043C>A c.(1042-1044)cCa>cAa p.P348Q NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 348 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding p.P348Q(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) AGAATGTTGTGGTTTCTCCTC 0.448000 3 33 0.004672 0.00499506 1 1 0 RXFP4 339403 broad.mit.edu 37 1 155912009 155912009 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:155912009C>A ENST00000368318.3 + 1 530 c.509C>A c.(508-510)gCc>gAc p.A170D NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 170 integral to membrane|plasma membrane angiotensin type II receptor activity p.A170D(1) endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCGGCGGCTGCCCTGGTGACG 0.682000 22 76 3.28513e-13 4.85522e-13 1 1 0 FKBP9 11328 broad.mit.edu 37 7 33014319 33014319 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:33014319C>A ENST00000242209.4 + 2 481 c.312C>A c.(310-312)aaC>aaA p.N104K AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.N157K NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 104 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.N104K(1) central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TGTGCGTAAACGAGAGACGTT 0.468000 4 102 0.0293803 0.0301298 1 1 0 PCSK6 5046 broad.mit.edu 37 15 101865129 101865129 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:101865129C>T ENST00000348070.1 - 18 2299 c.2300G>A c.(2299-2301)cGc>cAc p.R767H PCSK6_ENST00000358417.3_Missense_Mutation_p.R754H|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 768 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.R767H(2) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAACCCGCGGCGGCAAGACAG 0.567000 7 30 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61777734 61777734 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:61777734G>T ENST00000423902.2 + 38 8715 c.8236G>T c.(8236-8238)Gtg>Ttg p.V2746L CHD7_ENST00000524602.1_Missense_Mutation_p.V697L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2746 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.V2746L(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCCTTTGCTGGTGAACAGCCT 0.607000 4 6 0.000602214 0.000668757 1 1 0 C6orf89 221477 broad.mit.edu 37 6 36882185 36882185 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:36882185G>C ENST00000480824.2 + 5 823 c.529G>C c.(529-531)Gag>Cag p.E177Q C6orf89_ENST00000373685.1_Missense_Mutation_p.E177Q|C6orf89_ENST00000355190.3_Missense_Mutation_p.E184Q|C6orf89_ENST00000359359.2_Missense_Mutation_p.E71Q|C6orf89_ENST00000510325.2_Missense_Mutation_p.E71Q Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 177 integral to membrane p.E184Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 AAGGAAATTTGAGAGGCTCCA 0.527000 27 31 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116955207 116955207 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:116955207C>T ENST00000265441.3 - 3 805 c.506G>A c.(505-507)cGc>cAc p.R169H AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 169 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.R169H(1) breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACAAATGCGCGGGCAAATTT 0.478000 31 69 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83525673 83525673 + Splice_Site SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:83525673C>A ENST00000296591.5 - 3 644 c.226_splice c.e3+1 p.G76_splice EDIL3_ENST00000380138.3_Intron NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 76 EGF-like 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding p.G76C(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GGAACTTTACCTGCTGAAGTT 0.378000 16 51 2.23348e-06 2.77117e-06 1 1 0 MCF2 4168 broad.mit.edu 37 X 138697092 138697092 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:138697092G>T ENST00000520602.1 - 13 1776 c.1491C>A c.(1489-1491)ccC>ccA p.P497P MCF2_ENST00000370573.4_Silent_p.P437P|MCF2_ENST00000370576.4_Silent_p.P437P|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Silent_p.P398P|MCF2_ENST00000370578.4_Silent_p.P582P|MCF2_ENST00000519895.1_Silent_p.P497P|MCF2_ENST00000338585.6_Silent_p.P437P|MCF2_ENST00000414978.1_Silent_p.P497P P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 437 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity p.P437P(2)|p.P497P(1) NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTTCAGGTGTGGGTACCACAA 0.383000 4 152 1 1 1 1 0 LHX3 8022 broad.mit.edu 37 9 139091689 139091689 + Missense_Mutation SNP T T C rs137854504 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:139091689T>C ENST00000371746.3 - 3 422 c.304A>G c.(304-306)Atc>Gtc p.I102V LHX3_ENST00000371748.5_Missense_Mutation_p.I97V NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 97 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I102V(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GTGGGCGGGATGCCCAGCTGG 0.721000 7 3 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189927933 189927933 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:189927933C>A ENST00000374866.3 - 27 2108 c.1834G>T c.(1834-1836)Ggg>Tgg p.G612W NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 612 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.G612W(2) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCATGCTCCCGGGCTGCCCT 0.517000 58 69 2.01871e-26 3.68874e-26 1 1 0 GRIK2 2898 broad.mit.edu 37 6 102516291 102516291 + Nonsense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:102516291A>T ENST00000421544.1 + 16 3122 c.2632A>T c.(2632-2634)Aag>Tag p.K878* GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.K829*|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.K802* NM_021956.4 NP_068775.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 878 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.K878*(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTTAAAACATAAGCCACAGGC 0.413000 27 16 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535445 90535445 + RNA SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:90535445C>A ENST00000602681.1 + 0 1349 CTAGAACGCCCCTCACCCGAG 0.627000 53 102 4.88482e-21 8.25084e-21 1 1 0 TMOD3 29766 broad.mit.edu 37 15 52188673 52188673 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:52188673G>A ENST00000308580.7 + 7 966 c.685G>A c.(685-687)Gtg>Atg p.V229M RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.V229M NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 229 cytoplasm|cytoskeleton actin binding|tropomyosin binding p.V229M(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) CAACACACATGTGAAATGTTT 0.383000 24 34 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803524 142803524 + RNA SNP T T A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:142803524T>A ENST00000423385.1 - 0 1441 TACCTTTTTCTTTAATAGATG 0.269000 7 114 0 0 1 0 0 LINC00957 255031 broad.mit.edu 37 7 44080552 44080552 + RNA SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:44080552C>A ENST00000441052.1 + 0 1237 CCCCGCACCCCCCCGGAGTTA 0.617000 9 43 0.000274275 0.000307985 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3087578 3087578 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:3087578G>T ENST00000602557.1 - 28 4887 c.4332C>A c.(4330-4332)gaC>gaA p.D1444E CSMD1_ENST00000400186.3_Missense_Mutation_p.D1444E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000520002.1_Missense_Mutation_p.D1444E|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1444E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1444 Sushi 8. integral to membrane p.D1172E(1)|p.D1443E(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATGTAGGAGGGTCTGGTTGCC 0.438000 6 43 3.59834e-05 4.22962e-05 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24874156 24874156 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:24874156G>A ENST00000396432.2 - 26 5548 c.5062C>T c.(5062-5064)Cgg>Tgg p.R1688W NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1687 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.R1687W(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AGCTGTCTCCGGCTATCTAAA 0.428000 17 40 0 0 1 0 0 ACOT2 10965 broad.mit.edu 37 14 74036534 74036534 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:74036534G>C ENST00000238651.5 + 1 772 c.590G>C c.(589-591)cGg>cCg p.R197P ACOT2_ENST00000538782.1_Intron NM_006821.5 NP_006812.3 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 197 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding p.R197P(1) breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CCCGGGGTGCGGCGCGAGCCG 0.697000 13 7 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072791 34072791 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:34072791G>T ENST00000254466.6 - 6 1752 c.1725C>A c.(1723-1725)tcC>tcA p.S575S GAS2L2_ENST00000587565.1_Silent_p.S559S NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 575 cell cycle arrest cytoplasm|cytoskeleton p.S575S(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGGTCCCAGGACTCTCTGG 0.612000 22 79 5.45024e-15 8.49223e-15 1 1 0 MYH7 4625 broad.mit.edu 37 14 23894904 23894904 + Splice_Site SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:23894904C>G ENST00000355349.3 - 20 2448 c.2286_splice c.e20+1 p.K762_splice NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 762 Actin-binding.|Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.K762N(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTTCCTCACCTTGGTGTGGC 0.448000 34 60 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454418 110454418 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:110454418A>T ENST00000378402.5 + 35 4491 c.4387A>T c.(4387-4389)Aca>Tca p.T1463S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1463 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity p.T1465S(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAAAAATCTACATCAGGTAT 0.328000 HNSCC(38;0.096) 34 7 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477727 6477727 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:6477727C>A ENST00000525074.1 - 6 1623 c.1229G>T c.(1228-1230)cGc>cTc p.R410L TRIM3_ENST00000537602.1_Missense_Mutation_p.R332L|TRIM3_ENST00000536344.1_Missense_Mutation_p.R291L|TRIM3_ENST00000359518.3_Missense_Mutation_p.R410L|TRIM3_ENST00000345851.3_Missense_Mutation_p.R410L|TRIM3_ENST00000529058.1_Intron NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 410 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding p.R410L(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGCTGCCGCGCACTGGCTG 0.677000 14 5 4.93089e-13 7.23437e-13 1 1 0 RTN4IP1 84816 broad.mit.edu 37 6 107019974 107019974 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:107019974C>A ENST00000369063.3 - 9 1553 c.1088G>T c.(1087-1089)cGg>cTg p.R363L RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 363 mitochondrion oxidoreductase activity|zinc ion binding p.R363L(1) breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) AATAACTGGCCGGATCTGTAA 0.418000 40 13 1.57019e-19 2.56593e-19 1 1 0 LY9 4063 broad.mit.edu 37 1 160771628 160771628 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:160771628G>A ENST00000368039.2 + 3 504 c.503G>A c.(502-504)cGc>cAc p.R168H LY9_ENST00000471816.1_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane p.R168H(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGTGACCACCGCACACTCCTG 0.572000 103 112 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50272777 50272777 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:50272777G>T ENST00000298310.5 - 19 2268 c.1819C>A c.(1819-1821)Cga>Aga p.R607R NEMF_ENST00000545773.1_Silent_p.R565R|NEMF_ENST00000546046.1_Silent_p.R586R|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 607 cytoplasm|nucleus p.R607R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 GTGATAACTCGTGCATCCCAA 0.448000 24 20 9.90768e-06 1.20694e-05 1 1 0 KIF1A 547 broad.mit.edu 37 2 241727615 241727615 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:241727615C>A ENST00000498729.2 - 4 462 c.216G>T c.(214-216)caG>caT p.Q72H KIF1A_ENST00000320389.7_Missense_Mutation_p.Q72H NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 72 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.Q72H(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCCGGTACACCTGCTTCTGCG 0.587000 6 7 0.0215528 0.0224461 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26165124 26165124 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr22:26165124A>T ENST00000335473.7 + 4 1491 c.1241A>T c.(1240-1242)aAg>aTg p.K414M MYO18B_ENST00000407587.2_Missense_Mutation_p.K414M|MYO18B_ENST00000536101.1_Missense_Mutation_p.K414M NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 414 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.K414M(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGACAGAGAAGGGCTGTGAA 0.607000 4 4 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790576 4790576 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:4790576G>A ENST00000299320.5 + 4 1177 c.699G>A c.(697-699)gcG>gcA p.A233A C16orf71_ENST00000590191.1_Silent_p.A247A|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 233 p.A233A(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 TGAAGGAGGCGCCCTGCCACG 0.637000 10 16 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43159892 43159892 + RNA SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:43159892C>A ENST00000522175.2 + 0 748 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.S295Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCAAACAACTCTTCTGGAAAT 0.338000 40 35 1.15183e-24 2.06713e-24 1 1 0 FAT3 120114 broad.mit.edu 37 11 92534753 92534753 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:92534753G>T ENST00000298047.6 + 9 8591 c.8574G>T c.(8572-8574)caG>caT p.Q2858H FAT3_ENST00000525166.1_Missense_Mutation_p.Q2708H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q2858H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2858 Cadherin 26. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Q2858H(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGGATTCCCAGCCCGAAAAGG 0.498000 TCGA Ovarian(4;0.039) 4 2 0.00909568 0.00957189 1 1 0 FAF2 23197 broad.mit.edu 37 5 175923528 175923528 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:175923528A>G ENST00000261942.6 + 8 756 c.703A>G c.(703-705)Atg>Gtg p.M235V NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 235 response to unfolded protein endoplasmic reticulum|lipid particle protein binding p.M235V(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 ATTCCTGGCCATGATTATGCT 0.463000 27 35 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15742716 15742716 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:15742716G>T ENST00000381341.2 + 8 741 c.352G>T c.(352-354)Gaa>Taa p.E118* DDX1_ENST00000233084.3_Nonsense_Mutation_p.E118* Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 118 B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity p.E118*(1)|p.E118K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGAAGTAAAGGAATGGCATGG 0.373000 21 41 6.36457e-07 8.14828e-07 1 1 0 TRDV1 28518 broad.mit.edu 37 14 22564609 22564609 + RNA SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:22564609G>T ENST00000390452.2 + 0 78 GATCAAGTGTGGCCCAGAAGG 0.418000 80 125 3.77845e-26 6.84205e-26 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158605807 158605807 + Silent SNP T T A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:158605807T>A ENST00000368148.3 - 38 5508 c.5328A>T c.(5326-5328)gcA>gcT p.A1776A SPTA1_ENST00000368147.3_Silent_p.A1776A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1776 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.A1776A(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) TCAGCTTCTCTGCCATATCCA 0.507000 88 126 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96107067 96107067 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:96107067T>C ENST00000343702.4 - 4 1362 c.914A>G c.(913-915)cAg>cGg p.Q305R NTN4_ENST00000344911.4_Missense_Mutation_p.Q268R|NTN4_ENST00000553059.1_Missense_Mutation_p.Q305R|NTN4_ENST00000538383.1_Missense_Mutation_p.Q268R NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 305 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane p.Q305R(1) NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GGCACAGTGCTGGCAGTGGCT 0.522000 11 38 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466759 56466759 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:56466759G>A ENST00000291971.3 + 3 1406 c.1335G>A c.(1333-1335)aaG>aaA p.K445K NLRP8_ENST00000590542.1_Silent_p.K445K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 445 NACHT. cytoplasm ATP binding p.K445K(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTTCCAGAAAGATCCACCAAG 0.483000 25 33 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49419995 49419995 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:49419995C>A ENST00000301067.7 - 48 15753 c.15754G>T c.(15754-15756)Gac>Tac p.D5252Y NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.D4982Y(1)|p.D5252Y(1) AAGACCAGGTCCTCCAGGCCC 0.537000 10 58 2.17888e-05 2.59145e-05 1 1 0 TMEM2 23670 broad.mit.edu 37 9 74340552 74340552 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:74340552G>T ENST00000377044.4 - 11 2662 c.2123C>A c.(2122-2124)cCa>cAa p.P708Q TMEM2_ENST00000377066.5_Missense_Mutation_p.P645Q NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 708 integral to membrane p.P708Q(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGTGAGTTCTGGTTTTGCCAA 0.378000 24 47 7.87624e-14 1.19032e-13 1 1 0 OR8J3 81168 broad.mit.edu 37 11 55904448 55904448 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:55904448C>A ENST00000301529.1 - 1 746 c.747G>T c.(745-747)acG>acT p.T249T NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T249T(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CATAGAAAACCGTGACTGCTA 0.398000 29 21 3.65163e-15 5.7342e-15 1 1 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 7 289 --- --- --- --- TRAPPC11 60684 broad.mit.edu 37 4 184605873 184605874 + Frame_Shift_Ins INS - - TATC TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:184605873_184605874insTATC ENST00000334690.6 + 15 1648_1649 c.1446_1447insTATC c.(1444-1449)gaatcgfs p.ES482fs TRAPPC11_ENST00000512476.1_Frame_Shift_Ins_p.ES88fs|TRAPPC11_ENST00000357207.4_Frame_Shift_Ins_p.ES482fs NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 482 TGATGTGTGATTATCGGAGTGA 0.406 15 100 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9096031 9096031 + Frame_Shift_Del DEL C C - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:9096031delC ENST00000457346.2 - 4 588 c.514delG c.(514-516)aafs p.E173fs SCUBE2_ENST00000450649.2_Frame_Shift_Del_p.E173fs|SCUBE2_ENST00000309263.3_Frame_Shift_Del_p.E173fs|SCUBE2_ENST00000520467.1_Frame_Shift_Del_p.E173fs Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 173 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GAGGTACCTTCCGAGCGGTGA 0.582 7 91 --- --- --- --- KCNK10 54207 broad.mit.edu 37 14 88652098 88652098 + Frame_Shift_Del DEL G G - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:88652098delG ENST00000340700.5 - 7 1849 c.1398delC c.(1396-1398)ccfs p.P466fs KCNK10_ENST00000312350.5_Frame_Shift_Del_p.P471fs|KCNK10_ENST00000319231.5_Frame_Shift_Del_p.P471fs NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 466 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GAACGTCCTCGGGCAAGGTCT 0.502 67 121 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 27 --- --- --- --- PITPNM3 83394 broad.mit.edu 37 17 6358848 6358848 + Frame_Shift_Del DEL G G - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:6358848delG ENST00000262483.8 - 20 2822 c.2735delC c.(2734-2736)ggfs p.A912fs ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Frame_Shift_Del_p.A876fs NM_031220.3 NP_112497.2 CTCTGGCTGCGCGTGCAGCCC 0.692 13 23 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221313 1221314 + Frame_Shift_Ins INS - - C rs67873004 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:1221313_1221314insC ENST00000326873.7 + 6 2009_2010 c.836_837insC c.(835-837)gccfs p.A279fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGACTGTGGCCCCCCGCTCT 0.604 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 6 5 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13418663 13418663 + Frame_Shift_Del DEL T T - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:13418663delT ENST00000360228.5 - 15 1918 c.1919delA c.(1918-1920)atfs p.N640fs CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.N641fs NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 641 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTCATCGAAATTAAACCTGCA 0.547 55 14 --- --- --- --- ZNF671 79891 broad.mit.edu 37 19 58232780 58232780 + Frame_Shift_Del DEL C C - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:58232780delC ENST00000317398.6 - 4 769 c.674delG c.(673-675)gcfs p.G225fs ZNF671_ENST00000335820.3_Frame_Shift_Del_p.G127fs|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGAGTCTCTGCCCTCCTTCCT 0.507 9 74 --- --- --- --- DEFB115 245929 broad.mit.edu 37 20 29847303 29847304 + Frame_Shift_Ins INS - - A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:29847303_29847304insA ENST00000400552.1 + 2 135_136 c.135_136insA c.(133-138)tgggaafs p.WE45fs NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 45 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) CTGGCAGATGCAGGAAATCATG 0.317 21 30 --- --- --- ---