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 FLG2 388698 broad.mit.edu 37 1 152328737 152328737 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:152328737C>T ENST00000388718.5 - 3 1597 c.1525G>A c.(1525-1527)Ggg>Agg p.G509R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 509 Ser-rich. calcium ion binding|structural molecule activity p.G509R(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGACAGACCCATGCTGTCCA 0.522000 66 199 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196750942 196750942 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:196750942C>A ENST00000312428.6 - 34 5561 c.5461G>T c.(5461-5463)Gac>Tac p.D1821Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1821 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D1821Y(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATAAAACAGTCTATTAGATTC 0.348000 14 50 2.61681e-11 3.77984e-11 1 1 0 KRT34 3885 broad.mit.edu 37 17 39538481 39538481 + Nonsense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:39538481G>T ENST00000394001.1 - 1 174 c.144C>A c.(142-144)tgC>tgA p.C48* NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 48 Head. epidermis development intermediate filament protein binding|structural molecule activity p.C48*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GGCTGGGCAGGCAACAACTGT 0.632000 18 77 6.49762e-13 9.76521e-13 1 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431279 56431279 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:56431279G>T ENST00000302969.2 + 1 142 c.118G>T c.(118-120)Gtg>Ttg p.V40L NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V40L(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GGTTAATGTAGTGGGGAATAT 0.443000 53 170 7.91745e-34 1.53622e-33 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668286 176668286 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:176668286C>A ENST00000367662.3 + 8 3961 c.2797C>A c.(2797-2799)Cct>Act p.P933T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 933 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P933T(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCCTGGAGCCCTGAGGTCCA 0.572000 38 62 1.32136e-16 2.17438e-16 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73848519 73848519 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:73848519G>C ENST00000523207.1 + 3 1517 c.929G>C c.(928-930)aGg>aCg p.R310T NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 310 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.R310T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CGCATCCTCAGGATCCTGAAA 0.512000 22 50 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8731976 8731976 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:8731976C>A ENST00000311434.9 - 11 1460 c.1221G>T c.(1219-1221)ctG>ctT p.L407L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 407 platelet activation cytosol p.L488L(1) ACACGCCGGGCAGCATTTCCC 0.697000 6 11 3.59834e-05 4.03262e-05 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189063558 189063558 + Silent SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:189063558C>G ENST00000332517.3 + 3 797 c.657C>G c.(655-657)acC>acG p.T219T RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 219 multicellular organismal development ligase activity|zinc ion binding p.T219T(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TCAAACTGACCCAGCAAATCA 0.453000 12 35 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634669 178634669 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:178634669G>T ENST00000251582.7 - 4 837 c.736C>A c.(736-738)Cta>Ata p.L246I ADAMTS2_ENST00000274609.5_Missense_Mutation_p.L246I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 246 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L246I(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGCTCCTCTAGGACGCCCAGG 0.657000 19 61 2.4624e-09 3.31722e-09 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173997044 173997044 + Missense_Mutation SNP T T G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:173997044T>G ENST00000457714.1 + 6 1682 c.1253T>G c.(1252-1254)tTt>tGt p.F418C NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F418C|NLGN1_ENST00000401917.3_Missense_Mutation_p.F458C|NLGN1_ENST00000361589.4_Missense_Mutation_p.F418C NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 435 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.F418C(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTTTCAAATTTTGTTGATAAT 0.358000 21 29 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44277543 44277543 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr22:44277543C>A ENST00000216177.4 - 8 1226 c.1094G>T c.(1093-1095)tGg>tTg p.W365L PNPLA5_ENST00000597664.1_Missense_Mutation_p.W365L|PNPLA5_ENST00000593866.1_Missense_Mutation_p.W251L|PNPLA5_ENST00000381198.2_Missense_Mutation_p.W251L NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 365 lipid catabolic process hydrolase activity p.W365L(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) ATCGGGCAGCCACACCACCAA 0.667000 7 11 0.0692343 0.0703161 1 1 0 FRRS1 391059 broad.mit.edu 37 1 100185118 100185118 + Silent SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:100185118G>A ENST00000414213.1 - 10 1693 c.1092C>T c.(1090-1092)tcC>tcT p.S364S FRRS1_ENST00000287474.5_Silent_p.S364S Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 364 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding p.S364S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) GTACAGAATGGGATCCTCCTA 0.408000 24 44 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66028456 66028456 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr14:66028456G>A ENST00000360689.5 + 3 1902 c.175G>A c.(175-177)Gac>Aac p.D59N FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.D59N|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.D59N NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 59 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding p.D59N(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ACAGAATGAAGACTTGAGGCG 0.428000 16 21 0 0 1 0 0 TRPT1 83707 broad.mit.edu 37 11 63992969 63992969 + Splice_Site SNP A A C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:63992969A>C ENST00000394546.2 - 3 371 c.e3+1 TRPT1_ENST00000317459.6_Splice_Site|TRPT1_ENST00000541278.1_Splice_Site|TRPT1_ENST00000540472.1_Intron|TRPT1_ENST00000394547.3_Splice_Site|TRPT1_ENST00000546089.1_Splice_Site NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1 NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1 Q86TN4 TRPT1_HUMAN tRNA phosphotransferase 1 tRNA 2'-phosphotransferase activity p.?(1) lung(2)|skin(1) 3 GCCCCTACTTACCAGCTCCCA 0.637000 6 12 0 0 1 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702345 25702345 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:25702345C>A ENST00000282881.6 - 2 311 c.162G>T c.(160-162)caG>caT p.Q54H IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q75H|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q75H NM_152590.3 NP_689803.2 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 54 intermediate filament structural molecule activity p.Q75H(1)|p.Q54H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) CTCTACTAATCTGAGGACTAG 0.408000 22 49 7.87624e-14 1.2046e-13 1 1 0 HRNR 388697 broad.mit.edu 37 1 152188257 152188257 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:152188257T>C ENST00000368801.2 - 3 5923 c.5848A>G c.(5848-5850)Agc>Ggc p.S1950G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1950 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGCCACGGCTAGGGCTAGGA 0.607000 19 1288 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945057 151945057 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:151945057G>A ENST00000355193.2 - 14 2680 c.2462C>T c.(2461-2463)cCa>cTa p.P821L KMT2C_ENST00000262189.6_Missense_Mutation_p.P821L lysine (K)-specific methyltransferase 2C p.P821L(2) GCCAATTTTTGGAGTGACTGA 0.413000 20 226 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529162 57529162 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:57529162C>A ENST00000420713.1 + 4 1107 c.995C>A c.(994-996)gCc>gAc p.A332D NM_001159279.1 NP_001152751.1 zinc finger protein 716 p.A332D(2) breast(1)|kidney(1)|lung(20)|ovary(2) 24 TGTGGCAAAGCCTTTAGCTTA 0.418000 13 13 1.05317e-09 1.42617e-09 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274174 39274174 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:39274174G>T ENST00000391413.2 - 1 432 c.394C>A c.(394-396)Ccc>Acc p.P132T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 132 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.P132T(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) cagcaggtgggctggcagcac 0.667000 10 21 1.08611e-07 1.3775e-07 1 1 0 MAT1A 4143 broad.mit.edu 37 10 82036320 82036320 + Missense_Mutation SNP C C T rs148687668 TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:82036320C>T ENST00000372213.3 - 6 840 c.580G>A c.(580-582)Gca>Aca p.A194T NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 194 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGGATGACTGCGCCATTGTCC 0.572000 5 159 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35578665 35578665 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:35578665C>A ENST00000353139.5 - 29 4144 c.3663G>T c.(3661-3663)ctG>ctT p.L1221L ACACA_ENST00000335166.5_Silent_p.L1106L|ACACA_ENST00000394406.2_Silent_p.L1184L|ACACA_ENST00000360679.3_Silent_p.L1126L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1184 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L1221L(1)|p.L1126L(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAGATGTGGGCAGCATGAACT 0.473000 12 46 6.40141e-05 7.08241e-05 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 49 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52699031 52699031 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:52699031G>C ENST00000370989.1 - 5 480 c.322C>G c.(322-324)Ctt>Gtt p.L108V GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L108V Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 108 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.L108V(1) endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) ATGAGCAGAAGAAGGATCATT 0.368000 47 114 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27445756 27445756 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr16:27445756G>T ENST00000337929.3 + 3 611 c.138G>T c.(136-138)acG>acT p.T46T IL21R_ENST00000564089.1_Silent_p.T46T|IL21R_ENST00000395754.4_Silent_p.T46T|IL21R_ENST00000395755.1_Silent_p.T46T NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 46 natural killer cell activation integral to membrane interleukin-21 receptor activity p.T46T(1) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 ACCCCAGCACGCTCACCCTTA 0.617000 T BCL6 NHL 7 7 5.18039e-06 6.01295e-06 1 1 0 PDZD8 118987 broad.mit.edu 37 10 119043833 119043833 + Missense_Mutation SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:119043833T>A ENST00000334464.5 - 5 2650 c.2411A>T c.(2410-2412)cAt>cTt p.H804L PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 804 intracellular signal transduction metal ion binding p.H804L(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) AGTAACTACATGGTGGTCTGA 0.363000 11 62 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1680744 1680744 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:1680744C>G ENST00000252804.4 - 8 853 c.803G>C c.(802-804)aGa>aCa p.R268T NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 268 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.R268T(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCCTTCGGCTCTGCAGGTGAA 0.562000 11 13 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156932 33156932 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:33156932A>T ENST00000341947.2 - 3 493 c.266T>A c.(265-267)gTt>gAt p.V89D COL11A2_ENST00000357486.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374712.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395197.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374714.1_Missense_Mutation_p.V89D|COL11A2_ENST00000395194.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374713.1_Missense_Mutation_p.V89D|COL11A2_ENST00000361917.1_Missense_Mutation_p.V89D|COL11A2_ENST00000374708.4_Missense_Mutation_p.V89D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 89 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.V89D(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGTCCGGACAACAGTCAGCAG 0.597000 19 25 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154414418 154414418 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:154414418C>A ENST00000229768.5 + 4 1228 c.1178C>A c.(1177-1179)cCt>cAt p.P393H OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000419506.2_Intron NM_001008505.1 NP_001008505.2 P35372 OPRM_HUMAN opioid receptor, mu 1 176 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding p.P393H(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CTACCTATACCTTCCCTGTCT 0.428000 37 129 7.61001e-30 1.45485e-29 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1264035 1264035 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:1264035C>A ENST00000447027.1 + 31 5992 c.5934C>A c.(5932-5934)ccC>ccA p.P1978P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P1975P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1975 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P1978P(1)|p.P1975P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCACACCCACAGCTACCA 0.637000 44 77 3.4345e-17 5.7985e-17 1 1 0 FAT3 120114 broad.mit.edu 37 11 92590441 92590441 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:92590441G>T ENST00000298047.6 + 19 11444 c.11427G>T c.(11425-11427)caG>caT p.Q3809H FAT3_ENST00000525166.1_Missense_Mutation_p.Q3659H|FAT3_ENST00000533797.1_Missense_Mutation_p.Q144H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q3809H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3809 EGF-like 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Q3809H(2)|p.Q384H(1) 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) GGGACATGCAGTGTGTCAGTT 0.547000 TCGA Ovarian(4;0.039) 18 60 1.99824e-07 2.49779e-07 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163256864 163256864 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:163256864C>A ENST00000332142.5 - 10 2341 c.2242G>T c.(2242-2244)Ggg>Tgg p.G748W NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 748 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G748W(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTACTTGCCCCCCGAAAGGCT 0.483000 23 70 9.95505e-16 1.57824e-15 1 1 0 PIK3R5 23533 broad.mit.edu 37 17 8785177 8785177 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:8785177G>A ENST00000447110.1 - 16 2351 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C PIK3R5_ENST00000584803.1_Missense_Mutation_p.R742C|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R743C 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 5 743 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus p.R743C(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TTGCTCCAGCGACTTCGTCCA 0.612000 8 12 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69685223 69685223 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:69685223G>T ENST00000370598.1 + 10 2546 c.1725G>T c.(1723-1725)ttG>ttT p.L575F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 575 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.L575F(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACAGACACTTGCAGCATTCAG 0.443000 12 39 9.31168e-06 1.06186e-05 1 1 0 SHANK3 85358 broad.mit.edu 37 22 51159381 51159381 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr22:51159381C>A ENST00000414786.2 + 21 3305 c.3078C>A c.(3076-3078)ccC>ccA p.P1026P SHANK3_ENST00000445220.2_Silent_p.P1042P|SHANK3_ENST00000262795.3_Silent_p.P1056P F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1056 p.P1056P(1)|p.P149P(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GCAGCGCCCCCGGCGCGGATC 0.776000 4 8 0.150653 0.151821 1 1 0 SEC61A2 55176 broad.mit.edu 37 10 12191875 12191875 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:12191875G>T ENST00000379033.3 + 5 458 c.311G>T c.(310-312)gGg>gTg p.G104V SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G126V|SEC61A2_ENST00000379017.3_Missense_Mutation_p.G126V|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G126V|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G126V|SEC61A2_ENST00000379051.1_Missense_Mutation_p.G126V NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 126 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.G126V(4) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) ATTACCATTGGGCAAGCCATT 0.448000 26 47 3.73988e-18 6.57006e-18 1 1 0 IL10RA 3587 broad.mit.edu 37 11 117869691 117869691 + Missense_Mutation SNP G G T rs78753252 byFrequency TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:117869691G>T ENST00000227752.3 + 7 1192 c.1072G>T c.(1072-1074)Gac>Tac p.D358Y IL10RA_ENST00000545409.1_Missense_Mutation_p.D209Y|IL10RA_ENST00000541785.1_Missense_Mutation_p.D338Y|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 358 integral to membrane|plasma membrane interleukin-10 receptor activity p.D358Y(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGTGCTGGGGGACAGCTGCAG 0.647000 8 35 1.76689e-08 2.3085e-08 1 1 0 HMGCLL1 54511 broad.mit.edu 37 6 55360355 55360355 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:55360355G>T ENST00000398661.2 - 8 878 c.747C>A c.(745-747)gaC>gaA p.D249E HMGCLL1_ENST00000274901.4_Missense_Mutation_p.D219E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.D187E|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.D116E NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 249 hydroxymethylglutaryl-CoA lyase activity|metal ion binding p.D249E(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CTCCAATTGTGTCTCCTAGAG 0.413000 24 31 4.7796e-09 6.40565e-09 1 1 0 SI 6476 broad.mit.edu 37 3 164780204 164780204 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:164780204G>T ENST00000264382.3 - 9 1037 c.975C>A c.(973-975)atC>atA p.I325I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 325 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.I325I(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTCCTAGAAGGATGTAAAAAT 0.313000 HNSCC(35;0.089) 13 40 6.72482e-11 9.40029e-11 1 1 0 APOB 338 broad.mit.edu 37 2 21257763 21257763 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:21257763C>T ENST00000233242.1 - 8 956 c.829G>A c.(829-831)Ggg>Agg p.G277R APOB_ENST00000399256.4_Missense_Mutation_p.G277R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 277 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G277R(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCTACCATCCCATACTTATTC 0.448000 36 172 0 0 1 0 0 PFDN2 5202 broad.mit.edu 37 1 161087769 161087769 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:161087769C>A ENST00000368010.3 - 1 132 c.48G>T c.(46-48)gcG>gcT p.A16A PFDN2_ENST00000468311.1_5'UTR NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 16 SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084). 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding p.A16A(1) lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCCCCTTCCCCGCGCCGCTCC 0.701000 10 42 4.68919e-08 6.09595e-08 1 1 0 SPRY3 10251 broad.mit.edu 37 X 155003948 155003948 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:155003948C>A ENST00000302805.2 + 2 846 c.415C>A c.(415-417)Cac>Aac p.H139N NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 139 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.H139N(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCTGCAGGGCACCCTAGTGA 0.602000 38 69 1.03484e-13 1.57344e-13 1 1 0 SLC15A1 6564 broad.mit.edu 37 13 99340562 99340562 + Silent SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:99340562A>T ENST00000376503.5 - 20 1678 c.1623T>A c.(1621-1623)ccT>ccA p.P541P NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 541 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity p.P541P(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TATTGAAATTAGGTTGACATT 0.323000 16 79 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128176268 128176268 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:128176268C>T ENST00000543064.1 - 2 305 c.157G>A c.(157-159)Ggt>Agt p.G53S THEMIS_ENST00000537166.1_Missense_Mutation_p.G18S|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.G53S NM_001164685.1 NP_001158157.1 Q8N1K5 THMS1_HUMAN thymocyte selection associated 53 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.G53S(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ACTTTGAGACCAGTAATTTTA 0.338000 14 25 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906021 5906021 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:5906021C>G ENST00000316987.2 + 1 521 c.499C>G c.(499-501)Cgt>Ggt p.R167G NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R167G(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCATTCTGCGTCTGCCATT 0.453000 23 75 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008387 120008387 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:120008387G>T ENST00000341846.5 - 1 774 c.353C>A c.(352-354)cCc>cAc p.P118H NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 118 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P118H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AAAGGTAACGGGTGGCTTCTT 0.617000 69 213 1.70537e-16 2.78865e-16 1 1 0 ZNF660 285349 broad.mit.edu 37 3 44636320 44636320 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:44636320A>G ENST00000322734.2 + 3 968 c.635A>G c.(634-636)cAc>cGc p.H212R RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CAGAGAATTCACACTGGAGAG 0.378000 3 59 0 0 1 0 0 FGF19 9965 broad.mit.edu 37 11 69514154 69514154 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:69514154G>T ENST00000294312.3 - 3 1292 c.527C>A c.(526-528)cCt>cAt p.P176H NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 176 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity p.P176H(1) large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GAGGTCCTCAGGCTCCTCTGG 0.587000 29 85 4.2108e-06 4.90945e-06 1 1 0 GLI1 2735 broad.mit.edu 37 12 57858560 57858560 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:57858560C>T ENST00000228682.2 + 4 389 c.298C>T c.(298-300)Cgc>Tgc p.R100C GLI1_ENST00000546141.1_Missense_Mutation_p.R59C|GLI1_ENST00000543426.1_5'UTR NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 100 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.R100C(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GACGGTTATCCGCACCTCACC 0.567000 24 55 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77298209 77298209 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:77298209G>T ENST00000341514.6 + 20 4083 c.3928G>T c.(3928-3930)Gca>Tca p.A1310S ATP7A_ENST00000343533.5_Missense_Mutation_p.A1232S|ATP7A_ENST00000350425.4_Missense_Mutation_p.A313S NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1310 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.A1310S(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCCAGCTCTGGCAATGGCTAA 0.478000 66 46 6.52717e-41 1.28565e-40 1 1 0 TIMD4 91937 broad.mit.edu 37 5 156381546 156381546 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:156381546C>A ENST00000274532.2 - 2 336 c.280G>T c.(280-282)Gat>Tat p.D94Y TIMD4_ENST00000407087.3_Missense_Mutation_p.D94Y NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 94 Ig-like V-type. integral to membrane p.D94Y(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGGAGACATCACCTCTCGGG 0.502000 23 25 3.5997e-14 5.57096e-14 1 1 0 ANKRD44 91526 broad.mit.edu 37 2 197964625 197964625 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:197964625C>A ENST00000328737.2 - 10 1016 c.940G>T c.(940-942)Ggc>Tgc p.G314C ANKRD44_ENST00000409919.1_Missense_Mutation_p.G339C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.G314C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.G331C|ANKRD44_ENST00000539527.1_Missense_Mutation_p.G267C|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G314C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G339C Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 339 protein binding p.G339C(4)|p.G136C(2)|p.G314C(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGAGTGTTGCCGTCCTTATCC 0.443000 17 53 3.32936e-07 4.12206e-07 1 1 0 SUGT1P3 283507 broad.mit.edu 37 13 41486617 41486617 + RNA SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:41486617C>T ENST00000304932.4 - 0 456 NR_003365.2 TATTTACAGTCCAAGCTCAAC 0.313000 6 7 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182169 182169 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:182169C>A ENST00000283426.6 + 18 3597 c.3547C>A c.(3547-3549)Ccc>Acc p.P1183T NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1183 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.P1183T(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCACGCCGCCCCCTTCAAGCG 0.607000 29 105 4.2108e-06 4.90945e-06 1 1 0 KCNMA1 3778 broad.mit.edu 37 10 78647236 78647236 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:78647236C>A ENST00000286627.5 - 27 4277 c.3325G>T c.(3325-3327)Gtg>Ttg p.V1109L KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136L NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1167 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity p.V1109L(1)|p.V1171L(1) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCCGTCGGCACGAGCTCAAAC 0.547000 10 24 3.07112e-06 3.6295e-06 1 1 0 LPHN3 23284 broad.mit.edu 37 4 62935842 62935842 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:62935842A>G ENST00000514591.1 + 25 3955 c.3626A>G c.(3625-3627)aAt>aGt p.N1209S LPHN3_ENST00000512091.1_Silent_p.Q1226Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.N1252S|LPHN3_ENST00000514996.1_Missense_Mutation_p.N1243S|LPHN3_ENST00000514157.1_Silent_p.Q1260Q|LPHN3_ENST00000511324.1_Silent_p.Q1285Q|LPHN3_ENST00000504896.1_Silent_p.Q1269Q|LPHN3_ENST00000508693.1_Silent_p.Q1337Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.N1311S|LPHN3_ENST00000506720.1_Missense_Mutation_p.N1320S|LPHN3_ENST00000509896.1_Silent_p.Q1294Q|LPHN3_ENST00000506700.1_Silent_p.Q1217Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.N1209S|LPHN3_ENST00000507625.1_Missense_Mutation_p.N1268S|LPHN3_ENST00000507164.1_Silent_p.Q1328Q Q9HAR2 LPHN3_HUMAN latrophilin 3 1187 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.Q1226Q(2)|p.N1209S(1) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTTCTGAACAATGCCAGGGAT 0.413000 28 40 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C A rs121913358 TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:140481402C>A ENST00000288602.6 - 11 1466 c.1406G>T c.(1405-1407)gGa>gTa p.G469V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GTAGACTGTTCCAAATGATCC 0.373000 G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 34 77 6.97489e-18 1.20097e-17 1 1 0 PLD5 200150 broad.mit.edu 37 1 242253245 242253245 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:242253245G>T ENST00000442594.2 - 11 1755 c.1246C>A c.(1246-1248)Ccg>Acg p.P416T PLD5_ENST00000427495.1_Missense_Mutation_p.P446T|PLD5_ENST00000536534.1_Missense_Mutation_p.P508T NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 508 integral to membrane catalytic activity p.P416T(1)|p.P508T(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GAGCAGTTCGGCTGTTTGGTT 0.458000 64 149 9.39563e-20 1.7083e-19 1 1 0 NRSN2 80023 broad.mit.edu 37 20 333933 333933 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:333933T>C ENST00000382291.3 + 4 509 c.269T>C c.(268-270)cTg>cCg p.L90P NRSN2_ENST00000382285.2_Missense_Mutation_p.L90P|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 90 integral to membrane|plasma membrane|transport vesicle p.L90P(1) endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CCCCCCAAGCTGGAGGGCATC 0.647000 31 86 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584986 30584986 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:30584986C>A ENST00000217299.3 + 3 1640 c.1466C>A c.(1465-1467)gCg>gAg p.A489E NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 489 integral to membrane p.A489E(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGGGCCTCGGCGGGAGAGCGT 0.701000 29 16 1.13719e-10 1.56439e-10 1 1 0 PRND 23627 broad.mit.edu 37 20 4705533 4705533 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:4705533C>T ENST00000305817.2 + 2 407 c.336C>T c.(334-336)acC>acT p.T112T NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 112 Globular. protein homooligomerization anchored to membrane|plasma membrane p.T112T(1) breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 TCAATGCCACCCAGGCGGCGA 0.602000 12 41 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408290 30408290 + Silent SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:30408290A>T ENST00000375994.2 + 2 687 c.414A>T c.(412-414)gcA>gcT p.A138A MYLK2_ENST00000375985.4_Silent_p.A138A Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 138 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity p.A138A(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) GCCAAGCAGCAGCCAGGAGGG 0.627000 16 29 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216462704 216462704 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:216462704G>T ENST00000366943.2 - 11 2275 c.1889C>A c.(1888-1890)gCa>gAa p.A630E USH2A_ENST00000366942.3_Missense_Mutation_p.A630E|USH2A_ENST00000307340.3_Missense_Mutation_p.A630E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 630 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.A630E(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGAAGGATCTGCACCAACTTG 0.413000 HNSCC(13;0.011) 26 66 1.04121e-07 1.34017e-07 1 1 0 SNAP25 6616 broad.mit.edu 37 20 10277675 10277675 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:10277675C>A ENST00000254976.2 + 6 595 c.384C>A c.(382-384)gcC>gcA p.A128A SNAP25_ENST00000304886.2_Silent_p.A128A|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 128 energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.A128A(2) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AGCAGATGGCCATCAGTGGCG 0.498000 9 42 3.07112e-06 3.6295e-06 1 1 0 THBS2 7058 broad.mit.edu 37 6 169648565 169648565 + Nonsense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:169648565C>A ENST00000366787.3 - 4 805 c.556G>T c.(556-558)Gaa>Taa p.E186* NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 186 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.E186*(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGGCTCTTTTCCGCCTGCAGG 0.617000 39 84 2.19358e-23 4.13283e-23 1 1 0 ZIC2 7546 broad.mit.edu 37 13 100634871 100634871 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:100634871G>T ENST00000376335.3 + 1 846 c.553G>T c.(553-555)Ggc>Tgc p.G185C NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 185 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G185C(1) large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGGGCTGCCCGGCGAGGTGTT 0.711000 5 3 0.014758 0.0151663 1 1 0 DEPDC1 55635 broad.mit.edu 37 1 68954074 68954074 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:68954074A>G ENST00000456315.2 - 5 818 c.704T>C c.(703-705)aTa>aCa p.I235T DEPDC1_ENST00000370966.5_Missense_Mutation_p.I235T NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 235 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding p.I235T(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) GTTTTGTAGTATAACTACTCC 0.333000 15 70 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73020531 73020531 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:73020531G>T ENST00000263674.3 + 1 1198 c.848G>T c.(847-849)gGt>gTt p.G283V NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 283 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.G283V(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GACCGAGACGGTGAGGGCGGC 0.677000 13 23 4.36969e-10 5.94827e-10 1 1 0 ZNF223 7766 broad.mit.edu 37 19 44564659 44564659 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:44564659G>T ENST00000591793.1 + 5 480 c.397G>T c.(397-399)Ggg>Tgg p.G133W ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.G23W|ZNF223_ENST00000434772.3_Missense_Mutation_p.G23W Q9UK11 ZN223_HUMAN zinc finger protein 223 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G23W(2) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) GGAGGAGCTGGGGCTGCTGGA 0.517000 37 100 6.5261e-18 1.13878e-17 1 1 0 AKAP3 10566 broad.mit.edu 37 12 4736589 4736589 + Silent SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:4736589G>C ENST00000545990.2 - 5 2003 c.1479C>G c.(1477-1479)tcC>tcG p.S493S AKAP3_ENST00000228850.1_Silent_p.S493S NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 493 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.S493S(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GGTACTCAAAGGAAATGTCTG 0.458000 11 24 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 853683 853683 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:853683C>A ENST00000381922.3 - 9 1534 c.1432G>T c.(1432-1434)Ggc>Tgc p.G478C ANGPT4_ENST00000546022.1_3'UTR NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 478 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.G478C(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CAGCGGATGCCGTCCATCTTG 0.582000 13 30 4.3838e-07 5.37636e-07 1 1 0 KRT4 3851 broad.mit.edu 37 12 53201583 53201583 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:53201583G>T ENST00000293774.4 - 7 1683 c.1413C>A c.(1411-1413)gcC>gcA p.A471A KRT4_ENST00000458244.2_Silent_p.A377A|KRT4_ENST00000551956.1_Silent_p.A397A B4DRS2 B4DRS2_HUMAN keratin 4 397 keratin filament structural molecule activity p.A471A(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GCTTGCTGTGGGCATCTTTAA 0.562000 17 38 5.03518e-11 7.11493e-11 1 1 0 ZNF202 7753 broad.mit.edu 37 11 123600515 123600515 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:123600515C>A ENST00000336139.4 - 4 783 c.421G>T c.(421-423)Ggc>Tgc p.G141C ZNF202_ENST00000530393.1_Missense_Mutation_p.G141C|ZNF202_ENST00000529691.1_Missense_Mutation_p.G141C O95125 ZN202_HUMAN zinc finger protein 202 141 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G141C(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) ACTTCCTGGCCGTGAACATGG 0.522000 17 30 7.07596e-05 7.79555e-05 1 1 0 DUSP22 56940 broad.mit.edu 37 6 348916 348916 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:348916C>A ENST00000604971.1 + 4 1387 c.274C>A c.(274-276)Ccg>Acg p.P92T DUSP22_ENST00000605315.1_Missense_Mutation_p.P92T|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.P92T|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195T|DUSP22_ENST00000605035.1_3'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 0 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GGCACTGGCTCCGCTGACCTA 0.587000 4 23 0.014758 0.0151663 1 1 0 SALL1 6299 broad.mit.edu 37 16 51176012 51176012 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr16:51176012C>G ENST00000251020.4 - 2 154 c.121G>C c.(121-123)Gat>Cat p.D41H SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 41 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D41H(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACGTGGGCATCCTTGCTCTTA 0.458000 28 84 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:7577105G>T ENST00000420246.2 - 8 965 c.833C>A c.(832-834)cCt>cAt p.P278H TP53_ENST00000269305.4_Missense_Mutation_p.P278H|TP53_ENST00000359597.4_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTCTCCCAGGACAGGCACA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 16 2.27111e-07 2.8253e-07 1 1 0 OSR2 116039 broad.mit.edu 37 8 99961644 99961644 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:99961644C>A ENST00000297565.4 + 2 960 c.464C>A c.(463-465)cCg>cAg p.P155Q OSR2_ENST00000523368.1_Missense_Mutation_p.P155Q|OSR2_ENST00000435298.2_Missense_Mutation_p.P155Q|OSR2_ENST00000457907.2_Missense_Mutation_p.P276Q|OSR2_ENST00000522510.1_Missense_Mutation_p.P155Q NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 155 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding p.P155Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) AAATTGACTCCGGACAGAAAG 0.532000 32 129 4.3181e-19 7.7428e-19 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61511339 61511339 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:61511339C>T ENST00000266070.4 - 16 6294 c.5969G>A c.(5968-5970)gGt>gAt p.G1990D DIDO1_ENST00000395343.1_Missense_Mutation_p.G1990D NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1990 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G1990D(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCGTAGTCCACCAAACTGCAG 0.597000 71 152 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037052 75037052 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:75037052G>T ENST00000326665.5 - 14 4560 c.4342C>A c.(4342-4344)Caa>Aaa p.Q1448K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1448 Glu-rich. p.Q1448K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTTCCTCTTGCTCCTGTCCT 0.587000 36 116 4.62619e-21 8.59149e-21 1 1 0 GAPVD1 26130 broad.mit.edu 37 9 128094322 128094322 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr9:128094322G>T ENST00000470056.1 + 12 2451 c.2291G>T c.(2290-2292)gGc>gTc p.G764V GAPVD1_ENST00000297933.6_Missense_Mutation_p.G764V|GAPVD1_ENST00000495955.1_Missense_Mutation_p.G764V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.G764V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.G743V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.G743V Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 764 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity p.G764V(1) central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGCACACCAGGCCTCAGTGTT 0.507000 7 11 0.00198382 0.00207981 1 1 0 SLC1A3 6507 broad.mit.edu 37 5 36679962 36679962 + Splice_Site SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:36679962G>T ENST00000265113.4 + 7 1570 c.1094_splice c.e7+1 p.S365_splice CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Splice_Site_p.S365_splice NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 365 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.S365I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) ACCTCTTCAAGGTATGTATGT 0.453000 28 19 2.41591e-17 4.10547e-17 1 1 0 ASCC3 10973 broad.mit.edu 37 6 101075568 101075568 + Nonsense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:101075568G>A ENST00000369162.2 - 29 4884 c.4540C>T c.(4540-4542)Cga>Tga p.R1514* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1514 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.R1514*(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ACTGATGGTCGGAAGTTAAAC 0.363000 8 27 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87168583 87168583 + Splice_Site SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:87168583C>A ENST00000265724.3 - 20 2815 c.e20+1 ABCB1_ENST00000543898.1_Splice_Site NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.?(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GATAGACATACCTGTCTGAGC 0.542000 8 20 2.17888e-05 2.46308e-05 1 1 0 TCTN3 26123 broad.mit.edu 37 10 97440280 97440280 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:97440280C>T ENST00000265993.8 - 13 1782 c.1539G>A c.(1537-1539)ccG>ccA p.P513P TCTN3_ENST00000430368.1_Silent_p.P365P|TCTN3_ENST00000371217.4_Silent_p.P526P NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 513 apoptosis integral to membrane p.P513P(2)|p.P335P(1) breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CATGAGCTTGCGGGTTGGACA 0.463000 5 164 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491582 71491582 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:71491582C>A ENST00000296755.7 + 5 2698 c.2400C>A c.(2398-2400)ggC>ggA p.G800G NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 800 microtubule|microtubule associated complex structural molecule activity p.G800G(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CAGCTGTCGGCACTGGAGCCA 0.542000 20 28 1.9806e-07 2.49779e-07 1 1 0 CHRNB3 1142 broad.mit.edu 37 8 42591742 42591742 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:42591742G>T ENST00000289957.2 + 6 1486 c.1358G>T c.(1357-1359)tGg>tTg p.W453L NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 453 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.W453L(1) endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTGAAGATGTGGCTACATAGT 0.398000 32 125 2.20474e-14 3.43252e-14 1 1 0 OR2AG1 144125 broad.mit.edu 37 11 6806406 6806406 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:6806406C>A ENST00000307401.4 + 1 159 c.138C>A c.(136-138)ctC>ctA p.L46L NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L46L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCTACTGCTCCTGGCTATCA 0.522000 31 104 2.80507e-11 4.02938e-11 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52252232 52252232 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:52252232G>T ENST00000356297.4 - 21 4198 c.4098C>A c.(4096-4098)agC>agA p.S1366R PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1366 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.S1366R(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGCAAACGTGCTGAAATCTT 0.378000 24 73 5.35356e-11 7.52392e-11 1 1 0 RP1 6101 broad.mit.edu 37 8 55542556 55542556 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:55542556C>A ENST00000220676.1 + 4 6262 c.6114C>A c.(6112-6114)caC>caA p.H2038Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2038 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.H2038Q(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATTTCTTGCACACATCATTGT 0.333000 16 57 5.03518e-11 7.11493e-11 1 1 0 NMUR2 56923 broad.mit.edu 37 5 151771964 151771964 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:151771964G>T ENST00000255262.3 - 4 1201 c.1036C>A c.(1036-1038)Cac>Aac p.H346N NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 346 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.H346N(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CACTGTTTGTGGAAAGAAGAG 0.512000 30 42 5.77227e-19 1.02794e-18 1 1 0 TENM3 55714 broad.mit.edu 37 4 183713936 183713936 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:183713936G>T ENST00000511685.1 + 26 6234 c.6111G>T c.(6109-6111)acG>acT p.T2037T TENM3_ENST00000406950.2_Silent_p.T2037T teneurin transmembrane protein 3 p.T2037T(2) TCAATGAAACGCCACTGCCTA 0.383000 19 89 8.10497e-08 1.0484e-07 1 1 0 PCF11 51585 broad.mit.edu 37 11 82876987 82876987 + Nonsense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:82876987G>T ENST00000298281.4 + 5 1500 c.1048G>T c.(1048-1050)Gaa>Taa p.E350* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 350 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.E449*(1)|p.E350*(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TAAATCAGGTGAAAAAATAAC 0.303000 3 11 0.00024832 0.000264603 1 1 0 ATRNL1 26033 broad.mit.edu 37 10 117045738 117045738 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:117045738G>A ENST00000355044.3 + 15 2372 c.2246G>A c.(2245-2247)gGa>gAa p.G749E NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 749 PSI 3. integral to membrane sugar binding p.G749E(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CATCTTTGTGGAGAAGGATGG 0.303000 7 31 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869678 22869678 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr22:22869678C>A ENST00000302097.3 - 2 529 c.277G>T c.(277-279)Gtg>Ttg p.V93L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V93L(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ATAGAGGTCACATGATTTGCA 0.468000 24 79 1.1804e-14 1.86002e-14 1 1 0 JAK2 3717 broad.mit.edu 37 9 5050756 5050756 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr9:5050756G>C ENST00000381652.3 + 6 1033 c.539G>C c.(538-540)gGg>gCg p.G180A JAK2_ENST00000539801.1_Missense_Mutation_p.G180A|JAK2_ENST00000544510.1_Missense_Mutation_p.G31A NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 180 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding p.G180A(1) BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GAATGTCTTGGGATGGCAGTG 0.388000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 19 33 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889896 30889896 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:30889896G>T ENST00000475541.1 - 1 1335 c.403C>A c.(403-405)Cgg>Agg p.R135R PURG_ENST00000339382.2_Silent_p.R135R NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 135 nucleus DNA binding p.R135R(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TGCTCTTGCCGGTGGCCTTTC 0.597000 36 108 2.6416e-12 3.92466e-12 1 1 0 GAS7 8522 broad.mit.edu 37 17 9850262 9850262 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:9850262C>A ENST00000396115.1 - 6 694 c.384G>T c.(382-384)ccG>ccT p.P128P GAS7_ENST00000432992.2_Silent_p.P188P|GAS7_ENST00000585266.1_Silent_p.P124P|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Silent_p.P124P|GAS7_ENST00000542249.1_Silent_p.P133P|GAS7_ENST00000583882.1_Silent_p.P48P|GAS7_ENST00000580865.1_Silent_p.P48P|GAS7_ENST00000323816.4_Silent_p.P124P|GAS7_ENST00000579158.1_Silent_p.P140P|GAS7_ENST00000578655.1_5'UTR NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 188 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity p.P188P(2)|p.P48P(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GCTGCTGTTCCGGCATCGTGT 0.572000 T MLL AML* 10 29 6.40141e-05 7.08241e-05 1 1 0 COMMD3 23412 broad.mit.edu 37 10 22607738 22607738 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:22607738A>G ENST00000376836.3 + 6 859 c.415A>G c.(415-417)Aat>Gat p.N139D COMMD3-BMI1_ENST00000602390.1_Intron|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR NM_012071.3 NP_036203.1 COMM domain containing 3 p.N139D(1) kidney(2)|lung(2)|ovary(1) 5 ATTTTAGACCAATCAACTTCA 0.323000 41 79 0 0 1 0 0 ERAL1 26284 broad.mit.edu 37 17 27182086 27182086 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:27182086G>A ENST00000254928.5 + 1 131 c.34G>A c.(34-36)Gtt>Att p.V12I ERAL1_ENST00000578001.1_3'UTR NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 12 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding p.V12I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GGCTAGGCTTGTTCAATCGGT 0.612000 12 33 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813976 248813976 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:248813976G>T ENST00000344889.3 - 1 209 c.210C>A c.(208-210)gaC>gaA p.D70E NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D70E(1) breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TATACAGGATGTCCCTGAGGG 0.537000 4 36 4.3838e-07 5.37636e-07 1 1 0 DPYSL3 1809 broad.mit.edu 37 5 146780281 146780281 + Missense_Mutation SNP T T G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:146780281T>G ENST00000343218.5 - 10 1623 c.1426A>C c.(1426-1428)Atg>Ctg p.M476L DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.M362L NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 362 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity p.M362L(1) breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAGACATCCGCTCCTCC 0.567000 18 27 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93744142 93744142 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:93744142T>C ENST00000265990.6 + 19 2716 c.2408T>C c.(2407-2409)aTa>aCa p.I803T BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 803 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.I803T(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GTTTTAACAATAGATCAAGCT 0.299000 5 22 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078489 75078489 + Silent SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:75078489G>C ENST00000326665.5 - 9 1223 c.1005C>G c.(1003-1005)acC>acG p.T335T RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.T138T NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 335 p.T335T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TAAACTGAAAGGTCTCTGGAA 0.353000 9 29 0 0 1 0 0 PIK3R2 5296 broad.mit.edu 37 19 18272854 18272854 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:18272854G>T ENST00000593731.1 + 7 1454 c.894G>T c.(892-894)gcG>gcT p.A298A PIK3R2_ENST00000222254.7_Silent_p.A298A O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 298 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding p.A298A(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 AGGAGGTTGCGCCCCCAGGTG 0.607000 11 25 1.08611e-07 1.3775e-07 1 1 0 SRGAP1 57522 broad.mit.edu 37 12 64491115 64491115 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:64491115C>T ENST00000355086.3 + 15 2297 c.1773C>T c.(1771-1773)ctC>ctT p.L591L SRGAP1_ENST00000357825.3_Silent_p.L568L|SRGAP1_ENST00000543397.1_Silent_p.L528L|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 591 Rho-GAP. axon guidance cytosol p.L591L(1) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAAACCCCCTCTTTCCTAAGG 0.393000 12 42 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764230 140764230 + Silent SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:140764230G>C ENST00000518325.1 + 1 1764 c.1764G>C c.(1762-1764)gtG>gtC p.V588V PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 p.V588V(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACCTGGTGACCAAGGTGG 0.622000 25 48 0 0 1 0 0 UTS2B 257313 broad.mit.edu 37 3 190993099 190993099 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:190993099C>A ENST00000340524.5 - 8 1062 c.276G>T c.(274-276)aaG>aaT p.K92N UTS2B_ENST00000427544.2_Missense_Mutation_p.K92N NM_198152.3 NP_937795.2 urotensin 2B p.K92N(1) TCTCAGAATCCTTCTCCTCCA 0.393000 50 57 9.22156e-22 1.7249e-21 1 1 0 FSIP2 401024 broad.mit.edu 37 2 186672011 186672011 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:186672011C>A ENST00000343098.5 + 17 18245 c.18245C>A c.(18244-18246)aCa>aAa p.T6082K FSIP2_ENST00000424728.1_Missense_Mutation_p.T5993K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.T691K(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTGGCCCAAACAGCCAGCAAA 0.353000 32 94 1.06801e-11 1.56883e-11 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 3 63 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1098690 1098690 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:1098690G>C ENST00000441003.2 + 37 7087 c.7060G>C c.(7060-7062)Gcc>Ccc p.A2354P MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4716 inner mucus layer|outer mucus layer protein binding p.A2354P(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CTACTACGATGCCTGCGTGTT 0.647000 5 12 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136340607 136340607 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr9:136340607G>T ENST00000371899.4 - 5 766 c.689C>A c.(688-690)gCc>gAc p.A230D SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D|SLC2A6_ENST00000485978.1_5'UTR NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 230 integral to membrane|plasma membrane D-glucose transmembrane transporter activity p.A230D(3) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CGCCCGCAGGGCCTCTTCGTC 0.667000 4 12 0.00024832 0.000264603 1 1 0 DST 667 broad.mit.edu 37 6 56485422 56485422 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:56485422G>T ENST00000370765.6 - 23 3517 c.3410C>A c.(3409-3411)aCa>aAa p.T1137K DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1466 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.T1137K(2) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCTTTCCTGTAAGTTTGCT 0.423000 44 139 6.21074e-16 9.96786e-16 1 1 0 CAT 847 broad.mit.edu 37 11 34478364 34478364 + Splice_Site SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:34478364G>T ENST00000241052.4 + 8 1145 c.1056_splice c.e8+1 p.Q352_splice NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 352 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity p.Q352H(1) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AAATGCTTCAGGTGAGCCTGG 0.468000 14 34 2.23348e-06 2.66379e-06 1 1 0 VAX1 11023 broad.mit.edu 37 10 118897464 118897464 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:118897464G>T ENST00000277905.2 - 1 348 c.104C>A c.(103-105)gCg>gAg p.A35E VAX1_ENST00000369206.5_Missense_Mutation_p.A35E NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 35 nucleus sequence-specific DNA binding p.A35E(2) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) GTTCCCCTCCGCGCCCTTGCT 0.612000 22 63 9.57634e-11 1.32439e-10 1 1 0 TBC1D14 57533 broad.mit.edu 37 4 7006648 7006648 + Nonsense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:7006648G>T ENST00000409757.4 + 8 1472 c.1348G>T c.(1348-1350)Gaa>Taa p.E450* TBC1D14_ENST00000451522.2_Nonsense_Mutation_p.E170*|TBC1D14_ENST00000410031.1_Nonsense_Mutation_p.E222*|TBC1D14_ENST00000448507.1_Nonsense_Mutation_p.E450*|TBC1D14_ENST00000446947.2_Nonsense_Mutation_p.E63* NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 450 Rab-GAP TBC. intracellular Rab GTPase activator activity p.E435*(1)|p.E435K(1)|p.E450*(1) breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 AGTGGAGAACGAAGGTAGAAT 0.458000 23 50 1.55795e-14 2.44016e-14 1 1 0 SDK2 54549 broad.mit.edu 37 17 71391459 71391459 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:71391459C>A ENST00000392650.3 - 25 3427 c.3427G>T c.(3427-3429)Ggg>Tgg p.G1143W SDK2_ENST00000388726.3_Missense_Mutation_p.G1143W NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1143 Fibronectin type-III 6. cell adhesion integral to membrane p.G1143W(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TTGCCATGCCCGTCTGACCGG 0.617000 10 29 1.76689e-08 2.3085e-08 1 1 0 CRISP3 10321 broad.mit.edu 37 6 49704164 49704164 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:49704164C>A ENST00000433368.2 - 3 267 c.198G>T c.(196-198)gtG>gtT p.V66V CRISP3_ENST00000393666.1_Silent_p.V43V|CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000371159.4_Silent_p.V74V|CRISP3_ENST00000423399.2_Intron NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 43 innate immune response proteinaceous extracellular matrix|specific granule p.V43V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGTGCTTATTCACAATCTCCC 0.413000 56 144 2.12129e-23 4.0258e-23 1 1 0 ZNF397 84307 broad.mit.edu 37 18 32823239 32823239 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr18:32823239T>C ENST00000330501.7 + 3 691 c.538T>C c.(538-540)Tgc>Cgc p.C180R ZNF397_ENST00000591206.1_Missense_Mutation_p.C180R|ZNF397_ENST00000592264.1_Missense_Mutation_p.C180R|ZNF397_ENST00000585800.1_Missense_Mutation_p.C180R|ZNF397_ENST00000355632.4_Missense_Mutation_p.C180R|ZNF397_ENST00000261333.6_Missense_Mutation_p.C180R|ZNF397_ENST00000589420.1_3'UTR NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 180 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C180R(2) breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 CTGGAAACCATGCCTTTCCCC 0.443000 23 68 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891421 44891421 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:44891421G>A ENST00000330997.4 - 4 1050 c.986C>T c.(985-987)tCt>tTt p.S329F ZNF285_ENST00000591679.1_Missense_Mutation_p.S336F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S329F|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 p.S329F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GTGAAGGGAAGAGCTGCGCCT 0.478000 25 52 0 0 1 0 0 LRRC23 10233 broad.mit.edu 37 12 7014864 7014864 + Nonsense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:7014864G>T ENST00000007969.8 + 2 287 c.67G>T c.(67-69)Gag>Tag p.E23* LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E23*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E23*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E23* NM_001135217.1|NM_201650.2 NP_001128689.1|NP_964013.1 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 23 p.E23*(2) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 agaagaggacgagaaggagac 0.517000 11 48 1.08611e-07 1.3775e-07 1 1 0 IGKV1-16 28938 broad.mit.edu 37 2 89399577 89399577 + RNA SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:89399577G>A ENST00000479981.1 - 0 152 GACAAGTGATGGTGACTCTGT 0.483000 79 113 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623844 623844 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:623844G>C ENST00000262109.7 - 4 585 c.508C>G c.(508-510)Caa>Gaa p.Q170E ERICH1_ENST00000522706.1_Missense_Mutation_p.Q76E NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 170 p.Q170E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CTTTTAATTTGCTGTTTCTTT 0.468000 11 65 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751709 140751709 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:140751709A>T ENST00000576222.1 + 1 1879 c.1748A>T c.(1747-1749)gAg>gTg p.E583V PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCTGCAGAGCCTGGCTAC 0.647000 19 34 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47775959 47775959 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:47775959G>C ENST00000489301.2 + 5 911 c.826G>C c.(826-828)Gct>Cct p.A276P OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A276P|OPN5_ENST00000393699.2_Missense_Mutation_p.A276P Q6U736 OPN5_HUMAN opsin 5 276 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.A276P(1) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 TGTGTGGTCAGCTTTTGGAAG 0.463000 36 102 0 0 1 0 0 PRKY 5616 broad.mit.edu 37 Y 7193996 7193996 + RNA SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrY:7193996G>T ENST00000528056.1 + 0 726 NR_028062.1 p.V129L(1) large_intestine(2)|lung(3)|skin(1) 6 CATGGAGTATGTGCCGGGTGG 0.622000 21 8 7.41877e-09 9.84123e-09 1 1 0 PIGN 23556 broad.mit.edu 37 18 59828461 59828461 + Silent SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr18:59828461T>A ENST00000357637.5 - 4 541 c.126A>T c.(124-126)ccA>ccT p.P42P PIGN_ENST00000400334.3_Silent_p.P42P NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 42 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups p.P42P(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) ATCTTCTCGCTGGAGGAGGCA 0.403000 9 28 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36230472 36230472 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:36230472C>A ENST00000303965.4 - 2 1126 c.637G>T c.(637-639)Gac>Tac p.D213Y NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 213 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.D213Y(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CATTCAGAGTCTGCATTAGGG 0.368000 79 99 1.42074e-37 2.77738e-37 1 1 0 TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:7577138C>A ENST00000420246.2 - 8 932 c.800G>T c.(799-801)cGg>cTg p.R267L TP53_ENST00000269305.4_Missense_Mutation_p.R267L|TP53_ENST00000359597.4_Missense_Mutation_p.R267L|TP53_ENST00000455263.2_Missense_Mutation_p.R267L|TP53_ENST00000445888.2_Missense_Mutation_p.R267L|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 267 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAAGCTGTTCCGTCCCAGTAG 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 18 0.004672 0.00487839 1 1 0 IGHG3 3502 broad.mit.edu 37 14 106235814 106235814 + RNA SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr14:106235814C>A ENST00000390551.2 - 0 892 AGCCTTTGACCAGGCAGGTCA 0.627000 58 87 6.09941e-20 1.11679e-19 1 1 0 TRPC7 57113 broad.mit.edu 37 5 135549152 135549152 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:135549152G>T ENST00000513104.1 - 12 2842 c.2560C>A c.(2560-2562)Ctg>Atg p.L854M TRPC7_ENST00000355180.3_Missense_Mutation_p.L793M|TRPC7_ENST00000426057.2_Missense_Mutation_p.L738M NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 854 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.L854M(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCACCCTCAGGTGGTCTTTG 0.498000 6 10 1 1 1 1 0 NUDT17 200035 broad.mit.edu 37 1 145586946 145586946 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:145586946G>T ENST00000334513.5 - 7 753 c.742C>A c.(742-744)Cta>Ata p.L248I NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 248 hydrolase activity|metal ion binding p.L248I(1) endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTCCTCTAGTTCCACTGCA 0.532000 30 89 3.99451e-17 6.70047e-17 1 1 0 SYCP1 6847 broad.mit.edu 37 1 115418714 115418714 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:115418714C>G ENST00000369522.3 + 10 922 c.682C>G c.(682-684)Ctt>Gtt p.L228V SYCP1_ENST00000369518.1_Missense_Mutation_p.L228V NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 228 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.L228V(1) RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTGAGGAACTTCGTGTGCA 0.259000 17 47 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56346633 56346633 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:56346633G>A ENST00000331886.5 + 21 2313 c.1859G>A c.(1858-1860)gGg>gAg p.G620E DGKA_ENST00000551156.1_Missense_Mutation_p.G620E|DGKA_ENST00000394147.1_Missense_Mutation_p.G620E|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 620 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.G620E(1) breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) AGACCCCATGGGGATATCTAT 0.532000 32 142 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319603 21319603 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:21319603C>A ENST00000583088.1 + 3 1844 c.949C>A c.(949-951)Ctg>Atg p.L317M KCNJ12_ENST00000331718.5_Missense_Mutation_p.L317M NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.L317M(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CAGCTCCTACCTGGCCAATGA 0.582000 Prostate(3;0.18) 7 110 0.000157383 0.000170499 1 1 0 TRPC4 7223 broad.mit.edu 37 13 38237654 38237654 + Silent SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:38237654T>C ENST00000379705.3 - 6 2444 c.1587A>G c.(1585-1587)gcA>gcG p.A529A TRPC4_ENST00000379681.3_Silent_p.A529A|TRPC4_ENST00000358477.2_Silent_p.A529A|TRPC4_ENST00000338947.5_Silent_p.A356A|TRPC4_ENST00000379679.1_Silent_p.A356A|TRPC4_ENST00000355779.2_Silent_p.A529A|TRPC4_ENST00000447043.1_Silent_p.A529A|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Silent_p.A529A Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 529 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.A529A(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CATTTGCAAATGCTAGCAACA 0.373000 23 26 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33497247 33497247 + Silent SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:33497247C>G ENST00000268876.5 + 12 1759 c.1662C>G c.(1660-1662)gcC>gcG p.A554A UNC45B_ENST00000394570.2_Silent_p.A554A|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Silent_p.A554A|UNC45B_ENST00000378449.1_Intron NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 554 cell differentiation|muscle organ development cytosol binding p.A554A(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) ACGTCCCTGCCCTGCAGGCCA 0.627000 7 27 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225739438 225739438 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:225739438C>A ENST00000409592.3 - 9 1057 c.944G>T c.(943-945)tGc>tTc p.C315F DOCK10_ENST00000258390.7_Missense_Mutation_p.C321F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 321 GTP binding p.C321F(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTCTGGCGTGCATTCACAAGT 0.363000 24 74 3.6726e-16 5.93091e-16 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53668353 53668353 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:53668353C>G ENST00000600412.1 - 2 1310 c.1195G>C c.(1195-1197)Ggt>Cgt p.G399R ZNF665_ENST00000396424.3_Missense_Mutation_p.G464R Q9H7R5 ZN665_HUMAN zinc finger protein 665 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G464R(1)|p.G399R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAGACCTTACCGCAGTCATTA 0.438000 26 89 0 0 1 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19177405 19177405 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:19177405C>T ENST00000446113.2 + 9 1057 c.936C>T c.(934-936)ttC>ttT p.F312F ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Silent_p.F182F NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 312 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding p.F312F(1)|p.F182F(1) NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 TATTGGACTTCAATTCAGATT 0.353000 20 30 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128913089 128913089 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:128913089A>G ENST00000375990.3 + 20 2495 c.2092A>G c.(2092-2094)Aga>Gga p.R698G UGGT1_ENST00000259253.6_Missense_Mutation_p.R722G Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 722 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding p.R722G(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGATTATGCTAGATTTACTAT 0.343000 15 53 0 0 1 0 0 LHX5 64211 broad.mit.edu 37 12 113907096 113907096 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:113907096C>A ENST00000261731.3 - 2 801 c.228G>T c.(226-228)ctG>ctT p.L76L NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 76 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L76L(1) NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 CCTTGCGCACCAGGTCGCTGG 0.602000 18 53 8.04996e-18 1.37697e-17 1 1 0 TXNL4B 54957 broad.mit.edu 37 16 72124580 72124580 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr16:72124580C>A ENST00000268483.3 - 2 390 c.69G>T c.(67-69)gaG>gaT p.E23D TXNL4B_ENST00000423037.1_Missense_Mutation_p.E23D|TXNL4B_ENST00000426362.2_Missense_Mutation_p.E23D NM_001142318.1|NM_017853.2 NP_001135790.1|NP_060323.1 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 23 mitosis|mRNA processing|RNA splicing spliceosomal complex p.E23D(1) cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2) 8 CCAACACCTTCTCAGCAGTAC 0.393000 21 55 1.50039e-11 2.17934e-11 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24923271 24923271 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr15:24923271G>T ENST00000329468.2 + 1 2731 c.2257G>T c.(2257-2259)Gtc>Ttc p.V753F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.V753F(1) TGCACAGTCAGTCAGGGCACC 0.567000 41 114 4.14481e-20 7.64291e-20 1 1 0 C10orf11 83938 broad.mit.edu 37 10 78317043 78317043 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:78317043C>T ENST00000496424.2 + 3 1041 c.165C>T c.(163-165)ctC>ctT p.L55L C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Silent_p.L198L Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 198 p.L198L(1) endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) ATGACCAGCTCTGAAGCCAAC 0.388000 11 20 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49830115 49830115 + RNA SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:49830115C>T ENST00000527477.1 + 0 1446 GCTGCACATGCCCCAGCCTCT 0.463000 3 29 0 0 1 0 0 CKAP2 26586 broad.mit.edu 37 13 53036592 53036592 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:53036592G>A ENST00000378037.5 + 5 1288 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K CKAP2_ENST00000490903.1_Missense_Mutation_p.E351K|CKAP2_ENST00000378034.3_Missense_Mutation_p.E399K|CKAP2_ENST00000258607.5_Missense_Mutation_p.E399K NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 400 apoptosis|cell cycle centrosome|microtubule|spindle pole p.E399K(1) breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) AGGACAAAATGAAAAACCAGT 0.408000 13 31 0 0 1 0 0 HOXA2 3199 broad.mit.edu 37 7 27140486 27140486 + Silent SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:27140486T>C ENST00000222718.5 - 2 1300 c.990A>G c.(988-990)acA>acG p.T330T NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 330 nucleus sequence-specific DNA binding transcription factor activity p.T330T(1) breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 GGCAGGAATCTGTGGAGAAAA 0.502000 26 30 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41712181 41712181 + Silent SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:41712181G>A ENST00000373025.3 - 3 344 c.282C>T c.(280-282)tcC>tcT p.S94S PGC_ENST00000425343.2_Silent_p.S94S NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 94 digestion|proteolysis extracellular space aspartic-type endopeptidase activity p.S94S(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACAAGTTGGAGGAGCCGGTGT 0.602000 21 51 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702858 181702858 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:181702858C>T ENST00000526775.1 + 20 3342 c.3177C>T c.(3175-3177)gaC>gaT p.D1059D CACNA1E_ENST00000360108.3_Silent_p.D1059D|CACNA1E_ENST00000367570.1_Silent_p.D1078D|CACNA1E_ENST00000367567.4_Silent_p.D685D|CACNA1E_ENST00000367573.2_Silent_p.D1078D|CACNA1E_ENST00000357570.5_Silent_p.D1029D|CACNA1E_ENST00000358338.5_Silent_p.D1010D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1078 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.D1078D(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCGACGTGGACCCCTTGGTGG 0.622000 6 12 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237415899 237415899 + Splice_Site SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:237415899C>A ENST00000409907.3 - 1 286 c.e1+1 IQCA1_ENST00000309507.5_Splice_Site|IQCA1_ENST00000431676.2_Splice_Site Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 ATP binding p.?(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CCATCACTTACGCGTTCGACA 0.537000 6 25 3.59834e-05 4.03262e-05 1 1 0 POTEH 23784 broad.mit.edu 37 22 16287667 16287667 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr22:16287667C>T ENST00000343518.6 - 1 270 c.219G>A c.(217-219)agG>agA p.R73R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 73 p.R73R(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGCCGCTCCCCCTGCACCAGG 0.577000 59 288 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144877096 144877096 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:144877096G>T ENST00000369359.4 - 31 5037 c.4999C>A c.(4999-5001)Cgg>Agg p.R1667R PDE4DIP_ENST00000313382.9_Silent_p.R1487R|PDE4DIP_ENST00000369356.4_Silent_p.R1531R|PDE4DIP_ENST00000530740.1_Silent_p.R1667R|PDE4DIP_ENST00000369354.3_Silent_p.R1531R|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1531 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R1531R(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGTTGCTCCCGGAAGCTCTGT 0.493000 T PDGFRB MPD 11 44 5.50884e-06 6.3376e-06 1 1 0 FBXO2 26232 broad.mit.edu 37 1 11709842 11709842 + Missense_Mutation SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:11709842T>A ENST00000354287.4 - 4 952 c.611A>T c.(610-612)aAg>aTg p.K204M NM_012168.5 NP_036300.2 Q9UK22 FBX2_HUMAN F-box protein 2 204 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity p.K204M(1) kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) TCACCAGTCCTTCACCACGAT 0.662000 7 50 0 0 1 0 0 FXR2 9513 broad.mit.edu 37 17 7495160 7495160 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:7495160A>T ENST00000250113.7 - 17 2344 c.2010T>A c.(2008-2010)aaT>aaA p.N670K FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 670 cytosolic large ribosomal subunit protein binding|RNA binding p.N670K(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ATGAAACCCCATTCACCATAC 0.592000 9 17 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86869526 86869526 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:86869526G>C ENST00000373119.4 + 3 825 c.680G>C c.(679-681)gGa>gCa p.G227A KLHL4_ENST00000373114.4_Missense_Mutation_p.G227A NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 227 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.G227A(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AGGATGGAAGGAGTAGATCCA 0.398000 26 10 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847646 22847646 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:22847646C>A ENST00000456783.2 + 4 1419 c.1175C>A c.(1174-1176)cCc>cAc p.P392H NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P392H(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GGAGAGAAGCCCTACAAATGT 0.383000 8 41 3.86212e-05 4.30966e-05 1 1 0 KCNQ1 3784 broad.mit.edu 37 11 2591907 2591907 + Missense_Mutation SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:2591907G>C ENST00000155840.5 + 3 635 c.527G>C c.(526-528)tGg>tCg p.W176S KCNQ1_ENST00000335475.5_Missense_Mutation_p.W49S NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 176 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding p.W176S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GTCCGCCTCTGGTCCGCCGGC 0.657000 8 27 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454814 84454814 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr13:84454814G>T ENST00000377084.2 - 1 1714 c.829C>A c.(829-831)Caa>Aaa p.Q277K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 277 integral to membrane p.Q277K(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTCTTCTTGGGCAGGGGGC 0.542000 21 28 7.41877e-09 9.84123e-09 1 1 0 RPLP0 6175 broad.mit.edu 37 12 120636469 120636469 + Missense_Mutation SNP A A C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:120636469A>C ENST00000551150.1 - 5 854 c.539T>G c.(538-540)aTc>aGc p.I180S RPLP0_ENST00000228306.4_Missense_Mutation_p.I180S|RPLP0_ENST00000392514.4_Missense_Mutation_p.I180S|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000313104.5_Intron P05388 RLA0_HUMAN ribosomal protein, large, P0 180 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome p.I180S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAAGGGGGAGATGTTGAGCAT 0.507000 17 48 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345795 11345795 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:11345795G>T ENST00000376810.5 + 2 950 c.624G>T c.(622-624)ggG>ggT p.G208G UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 208 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity p.G208G(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) TCCAGGTGGGGTCCCTGGCCA 0.597000 15 72 7.05477e-17 1.17579e-16 1 1 0 SEC14L4 284904 broad.mit.edu 37 22 30886131 30886131 + Missense_Mutation SNP T T G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr22:30886131T>G ENST00000540456.1 - 13 1332 c.1139A>C c.(1138-1140)cAg>cCg p.Q380P SEC14L4_ENST00000255858.7_Missense_Mutation_p.Q395P|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.R356R Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 395 GOLD. integral to membrane|intracellular lipid binding|transporter activity p.Q395P(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CTTGAGACTCTGCAGCGTCTC 0.607000 7 21 0 0 1 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514537 58514537 + Silent SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:58514537G>A ENST00000370996.3 - 1 815 c.450C>T c.(448-450)ttC>ttT p.F150F FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 150 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity p.F150F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) AATGCAGGGTGAACTCCAGGT 0.672000 8 22 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8792128 8792128 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:8792128C>G ENST00000447110.1 - 10 1100 c.976G>C c.(976-978)Gag>Cag p.E326Q PIK3R5_ENST00000584803.1_Missense_Mutation_p.E326Q|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E326Q 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 5 326 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus p.E326Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 tcctcctcctcctcttcctcc 0.577000 10 19 0 0 1 0 0 INSIG2 51141 broad.mit.edu 37 2 118854157 118854157 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:118854157C>T ENST00000245787.4 + 2 231 c.25C>T c.(25-27)Cct>Tct p.P9S INSIG2_ENST00000485520.1_Intron NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 9 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex p.P9S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 GACAGAGTCACCTGGGCCCAA 0.418000 23 59 0 0 1 0 0 P2RY6 5031 broad.mit.edu 37 11 73008274 73008274 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:73008274G>T ENST00000393590.2 + 2 1010 c.711G>T c.(709-711)gcG>gcT p.A237A P2RY6_ENST00000538328.1_Silent_p.A237A|P2RY6_ENST00000542092.1_Silent_p.A237A|P2RY6_ENST00000393591.1_Silent_p.A237A|P2RY6_ENST00000540342.1_Silent_p.A237A|P2RY6_ENST00000393592.2_Silent_p.A237A|P2RY6_ENST00000540124.1_Silent_p.A237A|P2RY6_ENST00000349767.2_Silent_p.A237A NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 237 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.A237A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 GTGGCAAGGCGGCCCGCATGG 0.687000 31 80 8.16721e-17 1.35253e-16 1 1 0 FAT1 2195 broad.mit.edu 37 4 187584546 187584546 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:187584546C>A ENST00000441802.2 - 3 3696 c.3487G>T c.(3487-3489)Gca>Tca p.A1163S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1163 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.A1163S(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ggatcaaatgcctcgatctgg 0.393000 HNSCC(5;0.00058) 17 55 5.3912e-06 6.22984e-06 1 1 0 GABRA5 2558 broad.mit.edu 37 15 27182452 27182452 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr15:27182452C>A ENST00000335625.5 + 8 1589 c.701C>A c.(700-702)aCt>aAt p.T234N GABRA5_ENST00000355395.5_Missense_Mutation_p.T234N|GABRA5_ENST00000400081.3_Missense_Mutation_p.T234N|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 234 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T234N(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACGGTGGGCACTGAGAACATC 0.627000 10 23 0.0135373 0.0140227 1 1 0 PANX3 116337 broad.mit.edu 37 11 124487352 124487352 + Silent SNP C C T rs147550190 TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:124487352C>T ENST00000284288.2 + 3 574 c.507C>T c.(505-507)tcC>tcT p.S169S NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 169 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity p.S169S(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) AGAAGAGTTCCGACCCCTATG 0.458000 22 44 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247201596 247201596 + Nonsense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:247201596C>A ENST00000366503.2 - 4 483 c.325G>T c.(325-327)Gga>Tga p.G109* NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G109*(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) AAGACTTTTCCACACACACTG 0.393000 34 130 3.11337e-16 5.05923e-16 1 1 0 STK32C 282974 broad.mit.edu 37 10 134038769 134038769 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:134038769C>A ENST00000368622.1 - 7 874 c.493G>T c.(493-495)Ggg>Tgg p.G165W STK32C_ENST00000368625.4_Missense_Mutation_p.G295W Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 282 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.G282W(1)|p.G295W(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) GCCATCACCCCCACCGACCAC 0.622000 4 13 0.00024832 0.000264603 1 1 0 GLI1 2735 broad.mit.edu 37 12 57858976 57858976 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:57858976G>T ENST00000228682.2 + 5 563 c.472G>T c.(472-474)Gac>Tac p.D158Y GLI1_ENST00000546141.1_Missense_Mutation_p.D117Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D30Y NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 158 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.D158Y(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TGGTCCCCATGACTCTGCCCG 0.597000 9 32 1.58986e-06 1.91373e-06 1 1 0 BICC1 80114 broad.mit.edu 37 10 60272985 60272985 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:60272985G>T ENST00000373886.3 + 1 86 c.82G>T c.(82-84)Gtg>Ttg p.V28L NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 28 multicellular organismal development RNA binding p.V28L(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CGACTCCCCAGTGCCCGGCTC 0.721000 7 16 0.0293803 0.0299564 1 1 0 TTLL7 79739 broad.mit.edu 37 1 84403666 84403666 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:84403666C>A ENST00000260505.8 - 8 1134 c.757G>T c.(757-759)Gtg>Ttg p.V253L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 253 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity p.V253L(1) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGCTTGTTCACGGAGTAGTTT 0.398000 24 78 9.95505e-16 1.57824e-15 1 1 0 ZNF536 9745 broad.mit.edu 37 19 30936032 30936032 + Nonsense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:30936032C>A ENST00000355537.3 + 2 1710 c.1563C>A c.(1561-1563)taC>taA p.Y521* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.Y521*(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGAACAGCTACCAGGCTTGGC 0.607000 18 77 1.87028e-06 2.24089e-06 1 1 0 HTRA1 5654 broad.mit.edu 37 10 124249025 124249025 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:124249025C>A ENST00000368984.3 + 3 788 c.660C>A c.(658-660)caC>caA p.H220Q NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 220 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CAAATGCCCACGTGGTGACCA 0.498000 3 77 1 1 1 1 0 GRIK2 2898 broad.mit.edu 37 6 102247541 102247541 + Missense_Mutation SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:102247541T>A ENST00000369138.1 + 7 1460 c.970T>A c.(970-972)Tat>Aat p.Y324N GRIK2_ENST00000421544.1_Missense_Mutation_p.Y324N|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y324N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y324N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y275N|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y324N NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 324 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.Y324N(2) 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) TGCTCTAATGTATGATGCTGT 0.458000 37 87 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922411 24922411 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr15:24922411C>A ENST00000329468.2 + 1 1871 c.1397C>A c.(1396-1398)cCt>cAt p.P466H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P466H(1) CTGGCTCTTCCTGCTGACCTT 0.493000 35 116 4.3181e-19 7.7428e-19 1 1 0 MYH3 4621 broad.mit.edu 37 17 10544690 10544690 + Splice_Site SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:10544690C>A ENST00000583535.1 - 18 2047 c.e18-1 MYH3_ENST00000226209.7_Splice_Site NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.?(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCAGGTTTTCCTAAGAGAAAA 0.333000 30 65 1.80694e-10 2.47266e-10 1 1 0 DAK 26007 broad.mit.edu 37 11 61110891 61110891 + Missense_Mutation SNP A A C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:61110891A>C ENST00000394900.3 + 11 1172 c.943A>C c.(943-945)Acc>Ccc p.T315P NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 315 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTTCTCTCACCCTCCTGCT 0.592000 8 102 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190832 49190832 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:49190832G>T ENST00000406846.2 - 10 1247 c.1128C>A c.(1126-1128)gcC>gcA p.A376A FSHR_ENST00000541117.1_Silent_p.A112A|FSHR_ENST00000304421.4_Silent_p.A350A|FSHR_ENST00000346173.3_Silent_p.A314A NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 376 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.A376A(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCCCAGTGATGGCCAGGATGC 0.478000 Gonadal Dysgenesis, 46 XX 20 47 3.99206e-14 6.14163e-14 1 1 0 CCDC87 55231 broad.mit.edu 37 11 66358319 66358319 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:66358319C>T ENST00000333861.3 - 1 2235 c.2168G>A c.(2167-2169)cGg>cAg p.R723Q NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 723 p.R723Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CTTCAGGGCCCGCTCCCAGGC 0.552000 44 94 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493522 20493522 + Splice_Site SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:20493522T>C ENST00000504154.1 + 9 1166 c.914_splice c.e9+1 p.I305_splice SLIT2_ENST00000503837.1_Splice_Site_p.I309_splice|SLIT2_ENST00000273739.5_Splice_Site_p.I309_splice|SLIT2_ENST00000503823.1_Splice_Site_p.I305_splice NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 305 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.I305T(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATCACAGAAATGTATGTGCCT 0.458000 23 103 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42965887 42965887 + Silent SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr20:42965887C>G ENST00000217043.2 + 1 262 c.90C>G c.(88-90)acC>acG p.T30T NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 30 extracellular region peptidase inhibitor activity p.T30T(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CTAATGCTACCCCAGCCCCGG 0.652000 27 20 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52844156 52844156 + Silent SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:52844156A>G ENST00000351072.1 + 4 285 c.219A>G c.(217-219)tcA>tcG p.S73S XAGE5_ENST00000425386.1_Silent_p.S73S|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.S73S|XAGE5_ENST00000375503.3_3'UTR Q8WWM1 GAGD5_HUMAN X antigen family, member 5 73 p.S73S(1) endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 TGTCTCAGTCAAAGACTGGGG 0.443000 12 9 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27194740 27194740 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:27194740T>C ENST00000242159.3 - 2 614 c.481A>G c.(481-483)Att>Gtt p.I161V HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 161 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding p.I161V(1) endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 GCGATTTCAATGCGGCGGCGC 0.607000 38 74 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29642629 29642629 + Missense_Mutation SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:29642629T>A ENST00000318184.5 - 6 625 c.626A>T c.(625-627)aAg>aTg p.K209M NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 209 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.K209M(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTTCATGCTCTTGAGCACAGT 0.483000 5 17 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16873346 16873346 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:16873346A>T ENST00000377833.4 - 65 10498 c.10433T>A c.(10432-10434)gTc>gAc p.V3478D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3478 CUB 26. 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.V3478D(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) TTGAGAGAAGACAGGGTTTGG 0.393000 17 66 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220699 1220699 + Missense_Mutation SNP G G T rs137853082 TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:1220699G>T ENST00000326873.7 + 5 1890 c.717G>T c.(715-717)tgG>tgT p.W239C NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 239 Protein kinase. W -> C (in PJS; late onset suggests reduced penetrance). 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.?(2)|p.W239C(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) TGGACATCTGGTCGGCTGGGG 0.701000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 9 9 0.000673444 0.00071177 1 1 0 MYLK 4638 broad.mit.edu 37 3 123419547 123419547 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:123419547A>G ENST00000360772.3 - 19 3146 c.2768T>C c.(2767-2769)aTg>aCg p.M923T MYLK_ENST00000359169.1_Missense_Mutation_p.M923T|MYLK_ENST00000346322.5_Missense_Mutation_p.M854T|MYLK_ENST00000475616.1_Missense_Mutation_p.M923T|MYLK_ENST00000360304.3_Missense_Mutation_p.M923T Q15746 MYLK_HUMAN myosin light chain kinase 923 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.M923T(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACGGAAATCCATCTGCTCGGC 0.572000 19 34 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114793888 114793888 + Missense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:114793888G>A ENST00000310346.4 - 9 1672 c.1006C>T c.(1006-1008)Cat>Tat p.H336Y TBX5_ENST00000405440.2_Missense_Mutation_p.H336Y|TBX5_ENST00000349716.5_Missense_Mutation_p.H286Y NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 336 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.H336Y(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTATAGGGATGGTCTGTGGTG 0.532000 7 110 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30303750 30303750 + Missense_Mutation SNP A A C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:30303750A>C ENST00000376659.5 + 5 1376 c.778A>C c.(778-780)Aag>Cag p.K260Q TRIM39_ENST00000396548.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.K260Q|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.K172Q|TRIM39_ENST00000396547.1_Missense_Mutation_p.K260Q|TRIM39_ENST00000376656.4_Missense_Mutation_p.K260Q NM_172016.2 NP_742013.1 tripartite motif containing 39 p.K260Q(1) ovary(3) 3 CGAGATGCTTAAGGTTCGACC 0.582000 10 28 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44438272 44438272 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr21:44438272G>T ENST00000291547.5 + 7 863 c.652G>T c.(652-654)Gtc>Ttc p.V218F PKNOX1_ENST00000432907.2_Missense_Mutation_p.V101F NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 218 sequence-specific DNA binding p.V218F(1) cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 TGTCACGGTCGTCACTCCCCA 0.468000 13 30 2.98522e-18 5.27998e-18 1 1 0 PIGR 5284 broad.mit.edu 37 1 207105801 207105801 + Splice_Site SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:207105801C>T ENST00000356495.4 - 8 2191 c.2008_splice c.e8+1 p.D670_splice NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 670 extracellular region|integral to plasma membrane protein binding p.D670N(1) central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGGACTCACCGACGTTCTTC 0.632000 26 101 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48661577 48661577 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:48661577G>T ENST00000334136.5 + 4 443 c.265G>T c.(265-267)Gtg>Ttg p.V89L HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.V103L|HDAC6_ENST00000413163.2_Missense_Mutation_p.V34L|HDAC6_ENST00000376619.2_Missense_Mutation_p.V89L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 89 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.V89L(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) CACTGGCTTGGTGTTGGATGA 0.488000 9 2 0.000673444 0.00071177 1 1 0 KRT6B 3854 broad.mit.edu 37 12 52841671 52841671 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr12:52841671G>T ENST00000252252.3 - 7 1362 c.1315C>A c.(1315-1317)Cag>Aag p.Q439K NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 439 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton p.Q439K(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GCCAGGTCCTGCTTGGCCTTC 0.617000 36 76 6.97489e-18 1.20097e-17 1 1 0 SH3BP2 6452 broad.mit.edu 37 4 2834061 2834061 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:2834061G>T ENST00000442312.2 + 11 1673 c.1494G>T c.(1492-1494)ttG>ttT p.L498F SH3BP2_ENST00000503393.2_Missense_Mutation_p.L527F|SH3BP2_ENST00000435136.2_Missense_Mutation_p.L470F|SH3BP2_ENST00000356331.5_Missense_Mutation_p.L470F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.L470F|SH3BP2_ENST00000511747.1_Missense_Mutation_p.L470F NM_001145855.1 NP_001139327.1 P78314 3BP2_HUMAN SH3-domain binding protein 2 470 SH2. signal transduction SH3 domain binding|SH3/SH2 adaptor activity p.L470F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) ATTTTAGGTTGTTCAAGGCTA 0.592000 Cherubism 62 93 1.55545e-33 2.99567e-33 1 1 0 STIM1 6786 broad.mit.edu 37 11 4104601 4104601 + Silent SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:4104601A>T ENST00000300737.4 + 10 1916 c.1347A>T c.(1345-1347)tcA>tcT p.S449S STIM1_ENST00000527651.1_Silent_p.S449S|STIM1_ENST00000533977.1_Silent_p.S276S NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 449 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding p.S449S(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) GCATCCACTCACTGGTGGCTG 0.582000 16 40 0 0 1 0 0 FNTA 2339 broad.mit.edu 37 8 42914258 42914258 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr8:42914258T>C ENST00000302279.3 + 2 418 c.224T>C c.(223-225)aTa>aCa p.I75T FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.I32T NM_002027.2 NP_002018.1 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 75 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity p.I75T(1) cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGGGCTGATATAGATCCGGTG 0.403000 11 19 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047872 46047872 + Missense_Mutation SNP T T A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr21:46047872T>A ENST00000397911.3 + 1 833 c.784T>A c.(784-786)Tgc>Agc p.C262S TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 262 keratin filament p.C262S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GCCCAGCTATTGCCGCCAGGC 0.692000 28 79 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15733988 15733988 + RNA SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:15733988C>A ENST00000441682.2 + 0 782 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding p.R240R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCAGTTCTTCCGGTACAAGGA 0.552000 16 29 1.3612e-06 1.6538e-06 1 1 0 TAAR6 319100 broad.mit.edu 37 6 132892437 132892437 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:132892437T>C ENST00000275198.1 + 1 977 c.977T>C c.(976-978)gTa>gCa p.V326A NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 326 V -> I (in dbSNP:rs17061419). plasma membrane G-protein coupled receptor activity p.V326A(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) AAAGTTATTGTAACTGGTCAG 0.318000 38 70 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727575 20727575 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:20727575C>A ENST00000427401.4 - 4 1528 c.1434G>T c.(1432-1434)gaG>gaT p.E478D NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 478 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.E477D(1) breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTAGGGTTTCTCTCCAGTAT 0.413000 16 35 1.99824e-07 2.49779e-07 1 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100636656 100636656 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr15:100636656C>A ENST00000268070.4 - 15 2147 c.2042G>T c.(2041-2043)gGg>gTg p.G681V NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 681 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G681V(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGCTGCAGACCCGATGATGCC 0.572000 23 86 1.10513e-12 1.65135e-12 1 1 0 FSTL5 56884 broad.mit.edu 37 4 162421230 162421230 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:162421230G>T ENST00000306100.5 - 12 1832 c.1396C>A c.(1396-1398)Caa>Aaa p.Q466K FSTL5_ENST00000536695.1_Missense_Mutation_p.Q465K|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q465K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q456K NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 466 extracellular region calcium ion binding p.Q466K(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTATGGGTTGTATCACTTTG 0.328000 7 30 0.000157383 0.000170499 1 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98405277 98405277 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:98405277A>T ENST00000339364.5 - 8 1447 c.1328T>A c.(1327-1329)cTc>cAc p.L443H PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L265H NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 443 cytoplasm|plasma membrane p.L443H(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGACTCATAGAGATCCTCGTC 0.537000 10 33 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42147077 42147077 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr15:42147077C>A ENST00000320955.6 - 56 9748 c.9521G>T c.(9520-9522)cGg>cTg p.R3174L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3174 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin p.R3174L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GGGTGCACCCCGCTCCAGGGT 0.587000 12 40 1.5842e-08 2.09082e-08 1 1 0 OR3A1 4994 broad.mit.edu 37 17 3195311 3195311 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:3195311T>C ENST00000323404.1 - 1 565 c.566A>G c.(565-567)cAg>cGg p.Q189R RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q189R(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 GCAGGAGAGCTGGAAGAGCTG 0.517000 31 64 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028554 59028554 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:59028554C>A ENST00000594051.1 - 2 967 c.487G>T c.(487-489)Ggg>Tgg p.G163W ZBTB45_ENST00000600990.1_Missense_Mutation_p.G163W|ZBTB45_ENST00000354590.3_Missense_Mutation_p.G163W Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 163 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G163W(1) breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCGGGGTGCCCCGGGGGACGT 0.736000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 4.14922e-12 6.12953e-12 1 1 0 OR1M1 125963 broad.mit.edu 37 19 9204166 9204166 + Silent SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:9204166G>T ENST00000429566.3 + 1 312 c.246G>T c.(244-246)ctG>ctT p.L82L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L82L(1) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTAAGATGCTGGTGAGCCTTC 0.527000 18 28 0.000958276 0.00100871 1 1 0 XIST 7503 broad.mit.edu 37 X 73063053 73063053 + RNA SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chrX:73063053G>T ENST00000429829.1 - 0 9535 NR_001564.2 GGATACTAGGGCATAATATCC 0.443000 8 12 1.12685e-05 1.27939e-05 1 1 0 MTNR1B 4544 broad.mit.edu 37 11 92714983 92714983 + Silent SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr11:92714983C>A ENST00000257068.2 + 2 600 c.594C>A c.(592-594)acC>acA p.T198T NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 198 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity p.T198T(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCGCCAGCACCCAGTACACGG 0.617000 8 29 9.31168e-06 1.06186e-05 1 1 0 LLGL1 3996 broad.mit.edu 37 17 18145251 18145251 + Silent SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:18145251G>C ENST00000316843.4 + 19 2916 c.2820G>C c.(2818-2820)cgG>cgC p.R940R NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 940 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity p.R940R(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) TAAGTGCCCGGAACATCACAG 0.572000 7 88 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101240 16101240 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:16101240G>T ENST00000375766.3 + 7 1479 c.839G>T c.(838-840)aGc>aTc p.S280I FBLIM1_ENST00000332305.5_Missense_Mutation_p.S183I|FBLIM1_ENST00000441801.2_Missense_Mutation_p.S280I|FBLIM1_ENST00000400773.1_Missense_Mutation_p.S183I|FBLIM1_ENST00000375771.1_Missense_Mutation_p.S280I NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 280 LIM zinc-binding 2.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding p.S280I(1) large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) GGGGATGAGAGCTTTGCCCTG 0.642000 21 109 2.89027e-11 4.12895e-11 1 1 0 WBP1 23559 broad.mit.edu 37 2 74687010 74687010 + Silent SNP G G C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:74687010G>C ENST00000393972.3 + 4 488 c.285G>C c.(283-285)ctG>ctC p.L95L WBP1_ENST00000233615.2_Silent_p.L61L|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Silent_p.L58L Q96G27 WBP1_HUMAN WW domain binding protein 1 61 WW domain binding p.L61L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GGTTCTGGCTGCTCTGGACTG 0.572000 20 36 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99856015 99856015 + Missense_Mutation SNP T T C TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:99856015T>C ENST00000369239.5 - 7 1010 c.806A>G c.(805-807)aAg>aGg p.K269R PNISR_ENST00000438806.1_Missense_Mutation_p.K269R NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 269 nuclear speck p.K269R(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TTCTGTGGCCTTTTTTTCTTT 0.393000 38 75 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399302 10399302 + Missense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:10399302C>T ENST00000226207.5 - 35 5228 c.5134G>A c.(5134-5136)Gat>Aat p.D1712N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1712 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.D1712N(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCACTGGCATCCAGGAGCTCC 0.517000 31 43 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793228 53793228 + Nonsense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:53793228C>A ENST00000426466.1 - 1 1647 c.400G>T c.(400-402)Gaa>Taa p.E134* NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 134 apoptosis zinc ion binding p.E134*(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TGAATTCTTTCCTCCATTATT 0.368000 34 117 4.11147e-13 6.21502e-13 1 1 0 OR2T1 26696 broad.mit.edu 37 1 248569559 248569559 + Silent SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:248569559A>G ENST00000366474.1 + 1 264 c.264A>G c.(262-264)gcA>gcG p.A88A NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A88A(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) TCTTCACCGCACTGATGGCCA 0.443000 25 110 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186272671 186272671 + Missense_Mutation SNP C C G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:186272671C>G ENST00000504273.1 + 14 2176 c.1882C>G c.(1882-1884)Ctc>Gtc p.L628V SNX25_ENST00000264694.8_Missense_Mutation_p.L628V|SNX25_ENST00000512853.1_Intron Q9H3E2 SNX25_HUMAN sorting nexin 25 628 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity p.L628V(1) NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TCCTGACTACCTCAAGGTTAT 0.448000 28 91 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100672123 100672123 + Nonsense_Mutation SNP G G A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:100672123G>A ENST00000370132.3 - 9 1100 c.1087C>T c.(1087-1089)Cag>Tag p.Q363* NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 363 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding p.Q363*(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) GAGCAGATCTGAACATTTTTC 0.418000 77 192 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53883845 53883845 + Nonsense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:53883845G>T ENST00000514921.1 + 1 132 c.19G>T c.(19-21)Gaa>Taa p.E7* MLIP_ENST00000509997.1_Nonsense_Mutation_p.E7*|MLIP_ENST00000274897.5_Nonsense_Mutation_p.E7*|MLIP_ENST00000370877.2_Nonsense_Mutation_p.E7* Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 7 Interaction with LMNA. nuclear envelope|PML body protein binding p.E7*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TGAAAAGCGTGAAAAAAGAAG 0.358000 7 34 8.12818e-05 8.917e-05 1 1 0 FRMPD2 143162 broad.mit.edu 37 10 49430483 49430483 + Missense_Mutation SNP G G T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr10:49430483G>T ENST00000374201.3 - 12 1630 c.1328C>A c.(1327-1329)aCa>aAa p.T443K FRMPD2_ENST00000407470.4_Missense_Mutation_p.T412K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.T419K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 443 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.T443K(1) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTGGTGCCTTGTCAGGCTGTG 0.507000 22 39 1.50039e-11 2.17934e-11 1 1 0 ASPM 259266 broad.mit.edu 37 1 197070841 197070841 + Missense_Mutation SNP A A T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:197070841A>T ENST00000367409.4 - 18 7796 c.7540T>A c.(7540-7542)Tat>Aat p.Y2514N ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2514 mitosis cytoplasm|nucleus calmodulin binding p.Y2514N(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TATGTTCGATAATGTTGCTGA 0.363000 30 81 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156649936 156649936 + Missense_Mutation SNP C C A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:156649936C>A ENST00000422843.3 + 6 711 c.559C>A c.(559-561)Cct>Act p.P187T CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 187 SH3. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P187T(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AACCAATGATCCTCAGGAACT 0.488000 T SYK peripheral T-cell lymphoma 24 32 9.57634e-11 1.32439e-10 1 1 0 CDC27 996 broad.mit.edu 37 17 45219678 45219678 + Missense_Mutation SNP A A G TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr17:45219678A>G ENST00000066544.3 - 11 1388 c.1295T>C c.(1294-1296)tTg>tCg p.L432S CDC27_ENST00000446365.2_Missense_Mutation_p.L371S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S|CDC27_ENST00000531206.1_Missense_Mutation_p.L438S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 432 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.L438S(1)|p.L432S(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGAAGAGTCCAATTTTGTAAT 0.343000 5 21 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46603320 46603320 + Nonsense_Mutation SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr21:46603320C>T ENST00000539173.1 + 7 1726 c.1291C>T c.(1291-1293)Cga>Tga p.R431* ADARB1_ENST00000360697.3_Nonsense_Mutation_p.R431*|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000348831.4_Nonsense_Mutation_p.R431*|ADARB1_ENST00000437626.1_3'UTR NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 431 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding p.R431*(4) endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GAAATCAGAGCGAGGGGGGTT 0.393000 4 30 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101592825 101592825 + Missense_Mutation SNP T T G rs143134834 TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr5:101592825T>G ENST00000310954.6 - 8 1749 c.1463A>C c.(1462-1464)tAt>tCt p.Y488S NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 488 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.Y488S(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTACCCATTATATGATTCAGA 0.333000 13 25 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133824234 133824234 + Silent SNP C C T TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr7:133824234C>T ENST00000285928.2 + 3 520 c.451C>T c.(451-453)Cta>Tta p.L151L LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 151 ATP binding|kinase activity p.L151L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 ATATGTTCATCTACAGAAGTT 0.318000 13 35 0 0 1 0 0 LINC01359 101927084 broad.mit.edu 37 1 65450126 65450126 + RNA DEL T T - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:65450126delT ENST00000447748.1 - 0 1775 AAATGAAATATTTTAAAAGCC 0.438 2 4 --- --- --- --- CRB1 23418 broad.mit.edu 37 1 197390533 197390533 + Frame_Shift_Del DEL C C - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:197390533delC ENST00000367400.3 + 6 1710 c.1575delC c.(1573-1575)ttfs p.F525fs CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Frame_Shift_Del_p.F413fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.F456fs|CRB1_ENST00000543483.1_Frame_Shift_Del_p.F224fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.F6fs|CRB1_ENST00000538660.1_Frame_Shift_Del_p.F525fs|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 525 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTCTACTTTTCCGAAGCAACA 0.453 40 86 --- --- --- --- FAM177B 400823 broad.mit.edu 37 1 222923324 222923324 + Frame_Shift_Del DEL A A - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr1:222923324delA ENST00000445590.2 + 6 667 c.401delA c.(400-402)gafs p.E134fs FAM177B_ENST00000360827.2_Frame_Shift_Del_p.E134fs NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 134 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 GTTCCTAATGAAAAGTGTCAC 0.463 24 37 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1842936 1842936 + Frame_Shift_Del DEL A A - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:1842936delA ENST00000399161.2 - 21 3812 c.3065delT c.(3064-3066)tcfs p.F1022fs MYT1L_ENST00000428368.2_Frame_Shift_Del_p.F1020fs|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Frame_Shift_Del_p.F18fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1022 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTGTGTGAGGAAGCTGCCGCT 0.662 22 16 --- --- --- --- CAD 790 broad.mit.edu 37 2 27463992 27463993 + Frame_Shift_Del DEL AG AG - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:27463992_27463993delAG ENST00000264705.4 + 37 5867_5868 c.5705_5706delAG c.(5704-5706)cfs p.Q1902fs CAD_ENST00000403525.1_Frame_Shift_Del_p.Q1839fs NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1902 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCATCTCCCCAGAACCTGGGGA 0.604 83 201 --- --- --- --- CLASP1 23332 broad.mit.edu 37 2 122165204 122165204 + Frame_Shift_Del DEL G G - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr2:122165204delG ENST00000263710.4 - 25 2901 c.2512delC c.(2512-2514)gcfs p.R838fs CLASP1_ENST00000397587.3_Frame_Shift_Del_p.R818fs|CLASP1_ENST00000545861.1_Frame_Shift_Del_p.R585fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.R816fs|CLASP1_ENST00000455322.2_Frame_Shift_Del_p.R810fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.R571fs|CLASP1_ENST00000409078.3_Frame_Shift_Del_p.R810fs NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 838 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CCATATGAGCGCTCAGAGCAA 0.498 21 83 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66465421 66465422 + Frame_Shift_Ins INS - - A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr3:66465421_66465422insA ENST00000383703.3 - 5 1172_1173 c.569_570insT c.(568-570)cctfs p.P190fs LRIG1_ENST00000273261.3_Frame_Shift_Ins_p.P190fs Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 190 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GAAGAGTTAGCAGCGACCGTGA 0.495 38 49 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38091623 38091623 + Frame_Shift_Del DEL C C - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr4:38091623delC ENST00000261439.4 + 13 2476 c.2121delC c.(2119-2121)ggfs p.G707fs TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.G801fs NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 707 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GGCCCTTTGGCCCCCCACCAG 0.493 66 119 --- --- --- --- VPS52 6293 broad.mit.edu 37 6 33235055 33235056 + Frame_Shift_Ins INS - - A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr6:33235055_33235056insA ENST00000445902.2 - 11 1252_1253 c.1034_1035insT c.(1033-1035)tacfs p.Y345fs VPS52_ENST00000436044.2_Frame_Shift_Ins_p.Y220fs|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 345 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TTCCTAGGGTGAAAATGGTGTT 0.564 8 85 --- --- --- --- DPH7 92715 broad.mit.edu 37 9 140459346 140459346 + Splice_Site DEL T T - TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr9:140459346delT ENST00000277540.2 - 7 932 c.776_splice c.e7+1 p.S259_splice DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 GGGACTCACCTTCCCGTGGCC 0.642 2 4 --- --- --- --- ZNF71 58491 broad.mit.edu 37 19 57132833 57132834 + Frame_Shift_Ins INS - - A TCGA-75-5146-01A-01D-1625-08 TCGA-75-5146-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 965a2bb7-6cd4-4309-beba-51ae74b8a980 47f4e18d-ab88-4abe-8dad-12268c017776 g.chr19:57132833_57132834insA ENST00000328070.6 + 3 412_413 c.178_179insA c.(178-180)aatfs p.N60fs NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 60 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGAGCCATTGGGAATTCCCCAG 0.609 8 29 --- --- --- ---