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 FPGT 8790 broad.mit.edu 37 1 74670333 74670333 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:74670333C>T ENST00000370898.2 + 4 639 c.602C>T c.(601-603)aCc>aTc p.T201I FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 ACGATAGGTACCACACATGGA 0.363000 5 70 0 0 1 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718850 1718850 + Nonsense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:1718850C>A ENST00000382160.1 + 1 426 c.375C>A c.(373-375)tgC>tgA p.C125* NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 125 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCATTTGCTGCCAGTGCAAAA 0.572000 18 104 9.16793e-09 1.05162e-08 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196740432 196740432 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:196740432C>T ENST00000312428.6 - 38 6353 c.6253G>A c.(6253-6255)Gac>Aac p.D2085N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2085 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity 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 ATCTGAATGTCCACTAGTTTA 0.393000 14 28 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1271277 1271277 + Silent SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:1271277C>A ENST00000308624.5 + 14 1347 c.1218C>A c.(1216-1218)ggC>ggA p.G406G SNTG2_ENST00000407292.1_Silent_p.G279G NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 406 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGGAGCTTGGCAGCGAGCTGG 0.522000 3 19 0.00909568 0.00927403 1 1 0 PLA2G6 8398 broad.mit.edu 37 22 38531073 38531073 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr22:38531073G>C ENST00000332509.3 - 6 999 c.816C>G c.(814-816)atC>atG p.I272M PLA2G6_ENST00000335539.3_Missense_Mutation_p.I272M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.I272M NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 272 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TGTCCATGCTGATGATCATCT 0.612000 15 32 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193218 128193218 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:128193218G>A ENST00000284694.7 - 3 671 c.551C>T c.(550-552)gCc>gTc p.A184V C10orf90_ENST00000392694.1_Missense_Mutation_p.A137V|C10orf90_ENST00000356858.3_Missense_Mutation_p.A137V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A184V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A281V NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 184 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) ACCTGGATGGGCGCCATTGGC 0.647000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 64 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185902905 185902905 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:185902905G>C ENST00000271588.4 + 11 2006 c.1777G>C c.(1777-1779)Gtt>Ctt p.V593L HMCN1_ENST00000367492.2_Missense_Mutation_p.V593L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 593 Ig-like C2-type 2. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCATTGTATGGTTTCTAGTGA 0.438000 12 122 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4820887 4820887 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:4820887C>T ENST00000348624.4 + 2 217 c.123C>T c.(121-123)acC>acT p.T41T AP5Z1_ENST00000401897.1_Silent_p.T41T NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 41 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GGCCGGACACCCTCGACTCCC 0.602000 8 82 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10108062 10108062 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr19:10108062G>A ENST00000264828.3 - 11 1333 c.1248C>T c.(1246-1248)ggC>ggT p.G416G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 416 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GACCAGGGTCGCCAGGGAATC 0.597000 3 17 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11319340 11319340 + Nonsense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:11319340C>A ENST00000361445.4 - 2 203 c.127G>T c.(127-129)Gag>Tag p.E43* NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 43 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGCTGGAGCTCCTTGGCGGCT 0.557000 20 95 7.45023e-12 8.87202e-12 1 1 0 TDRD1 56165 broad.mit.edu 37 10 115947746 115947746 + Silent SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:115947746T>C ENST00000251864.2 + 2 309 c.156T>C c.(154-156)aaT>aaC p.N52N TDRD1_ENST00000369282.1_Silent_p.N52N|TDRD1_ENST00000369281.2_Silent_p.N52N|TDRD1_ENST00000369280.1_Silent_p.N52N|TDRD1_ENST00000422662.1_5'UTR NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 52 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ACCACCCTAATTTCAGGCTGA 0.358000 10 82 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162186 38162186 + Missense_Mutation SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr8:38162186T>C ENST00000317025.8 - 14 3047 c.2530A>G c.(2530-2532)Att>Gtt p.I844V WHSC1L1_ENST00000527502.1_Missense_Mutation_p.I844V|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.I844V NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 844 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CAGATGAGAATGTAGGAGGAT 0.433000 T NUP98 AML 15 92 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41949376 41949376 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:41949376C>T ENST00000301831.4 - 12 1605 c.1143G>A c.(1141-1143)atG>atA p.M381I ULK4_ENST00000420927.1_Missense_Mutation_p.M381I NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 381 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AACAGTGAGTCATATCCTCAC 0.413000 6 26 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667162 157667162 + Silent SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:157667162C>A ENST00000368184.3 - 6 903 c.612G>T c.(610-612)ggG>ggT p.G204G FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.G204G NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 204 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCATGGGACTCCCCTCTATGG 0.537000 5 64 0.0215528 0.0216918 1 1 0 TAF4 6874 broad.mit.edu 37 20 60581737 60581737 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr20:60581737C>T ENST00000252996.3 - 7 2051 c.2052G>A c.(2050-2052)ccG>ccA p.P684P TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 684 Poly-Pro.|TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GCGAGGTGGGCGGTGGCGGCT 0.692000 8 37 0 0 1 0 0 PPM1B 5495 broad.mit.edu 37 2 44457630 44457630 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:44457630G>C ENST00000282412.4 + 6 1625 c.1213G>C c.(1213-1215)Gga>Cga p.G405R PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.G118R|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron NM_002706.4 NP_002697.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 405 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TAATCATAGGGGAAACTACCG 0.468000 14 63 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121615009 121615009 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:121615009C>T ENST00000328963.5 + 9 976 c.522C>T c.(520-522)ttC>ttT p.F174F P2RX7_ENST00000377162.2_Silent_p.F255F|P2RX7_ENST00000535250.1_Silent_p.F254F|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Silent_p.F344F|P2RX7_ENST00000541446.1_Silent_p.F55F A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 344 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCTCCTACTTCGGTCTGGTAA 0.463000 10 33 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289337 160289337 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:160289337C>T ENST00000392783.2 - 9 2326 c.1831G>A c.(1831-1833)Gaa>Aaa p.E611K BAZ2B_ENST00000392782.1_Missense_Mutation_p.E609K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E611K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E609K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 611 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 tcttcctcttcatcctcatTT 0.353000 6 61 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183822311 183822311 + Missense_Mutation SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:183822311T>C ENST00000360982.2 - 20 2671 c.1913A>G c.(1912-1914)cAt>cGt p.H638R NCKAP1_ENST00000361354.3_Missense_Mutation_p.H632R NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 632 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTTGGCACAATGCTTGGGTAG 0.378000 11 50 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96555301 96555301 + Missense_Mutation SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr13:96555301T>A ENST00000376747.3 - 21 2379 c.2309A>T c.(2308-2310)cAt>cTt p.H770L NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 770 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 CAACCGACTATGAACACTTGT 0.313000 10 41 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262996 69262996 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:69262996G>A ENST00000408913.2 - 1 194 c.16C>T c.(16-18)Cgc>Tgc p.R6C Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 38 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGGCGCTGCGGGTGTACGTA 0.592000 22 59 0 0 1 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839605 173839605 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:173839605A>G ENST00000367704.1 + 3 641 c.242A>G c.(241-243)gAa>gGa p.E81G ZBTB37_ENST00000427304.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E81G|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E81G|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E81G Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 81 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 ACTGTTTTTGAACAGCTCCTT 0.473000 5 78 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189434 124189434 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:124189434G>A ENST00000357438.2 - 1 750 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAGAGAAAATGAAAGCATAAG 0.448000 5 89 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417703 105417703 + Missense_Mutation SNP A A C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:105417703A>C ENST00000333244.5 - 7 4204 c.4085T>G c.(4084-4086)aTg>aGg p.M1362R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1362 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGGAGGCTCATGTCGGCCTC 0.602000 29 172 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26895271 26895271 + Silent SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr22:26895271G>T ENST00000407690.1 - 9 1411 c.1128C>A c.(1126-1128)gtC>gtA p.V376V TFIP11_ENST00000407431.1_Silent_p.V376V|TFIP11_ENST00000407148.1_Silent_p.V376V|TFIP11_ENST00000405938.1_Silent_p.V376V NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 376 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CCATCTCCAGGACCTTGCTGA 0.617000 39 52 3.33393e-15 4.03173e-15 1 1 0 TGM2 7052 broad.mit.edu 37 20 36767845 36767845 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr20:36767845C>T ENST00000361475.2 - 9 1484 c.1311G>A c.(1309-1311)gaG>gaA p.E437E TGM2_ENST00000536701.1_Silent_p.E356E|TGM2_ENST00000536724.1_Silent_p.E377E NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 437 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GGGTGATATCCTCCCGCTCGT 0.547000 4 45 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64557716 64557716 + Missense_Mutation SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:64557716T>A ENST00000294066.2 - 29 2283 c.2192A>T c.(2191-2193)gAg>gTg p.E731V MAP4K2_ENST00000377350.3_Missense_Mutation_p.E723V NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 731 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 GGCCGTGGGCTCGCCCTGCAT 0.622000 6 42 0 0 1 0 0 ZFY 7544 broad.mit.edu 37 Y 2829478 2829478 + Missense_Mutation SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrY:2829478A>T ENST00000155093.3 + 3 746 c.425A>T c.(424-426)cAt>cTt p.H142L ZFY_ENST00000449237.1_Missense_Mutation_p.H116L|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Missense_Mutation_p.H142L NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 GAATCCATGCATGTGTGTGAC 0.403000 94 53 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77379048 77379048 + Silent SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:77379048C>G ENST00000334955.7 + 3 1038 c.1011C>G c.(1009-1011)ctC>ctG p.L337L RSBN1L_ENST00000445288.1_Silent_p.L67L NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 337 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAATAACCTCAAAAGGTTGG 0.408000 6 51 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112681770 112681770 + Silent SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:112681770G>T ENST00000550722.1 - 30 4514 c.4119C>A c.(4117-4119)gtC>gtA p.V1373V HECTD4_ENST00000430131.2_Silent_p.V1097V|HECTD4_ENST00000377560.5_Silent_p.V1347V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CAGGCTGCCTGACAGCGTGAG 0.388000 7 45 0.00198382 0.00206317 1 1 0 NOD1 10392 broad.mit.edu 37 7 30491286 30491286 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:30491286C>G ENST00000222823.4 - 6 2272 c.1747G>C c.(1747-1749)Gat>Cat p.D583H NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 583 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TGGAAGTGATCCTTGTTCTTG 0.617000 8 93 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75501072 75501072 + Missense_Mutation SNP C C T rs79122600 TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:75501072C>T ENST00000360639.2 + 2 3003 c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C C15orf39_ENST00000567617.1_Missense_Mutation_p.R895C|C15orf39_ENST00000394987.4_Missense_Mutation_p.R895C Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 895 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CTGCACCTCACGCATGCTGAA 0.672000 3 14 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906828 13906828 + Nonsense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:13906828G>A ENST00000279593.3 - 3 642 c.433C>T c.(433-435)Cag>Tag p.Q145* NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 145 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGCCAAACTGGAAGAACATG 0.393000 6 31 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355450 21355450 + Silent SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:21355450A>T ENST00000256958.2 + 10 1257 c.1161A>T c.(1159-1161)gcA>gcT p.A387A NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 387 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CTATTTTTGCAAGTGGAATGT 0.299000 6 20 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579699 7579699 + Splice_Site SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:7579699C>A ENST00000420246.2 - 3 229 c.e3+1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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) CTTGTCCTTACCAGAACGTTG 0.597000 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) 13 35 4.3838e-07 4.88481e-07 1 1 0 FAM214A 56204 broad.mit.edu 37 15 52902410 52902410 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:52902410C>T ENST00000261844.7 - 6 853 c.701G>A c.(700-702)gGc>gAc p.G234D FAM214A_ENST00000546305.2_Missense_Mutation_p.G241D NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 234 CTCATAAAGGCCAATATTAGT 0.388000 10 53 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 4 36 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20277461 20277461 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr13:20277461C>A ENST00000338910.4 - 9 1585 c.1426G>T c.(1426-1428)Ggt>Tgt p.G476C NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 476 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) ATAGGTGAACCCATCTGAGAT 0.463000 7 31 0.000442599 0.000469697 1 1 0 BMP3 651 broad.mit.edu 37 4 81967329 81967329 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:81967329C>A ENST00000282701.2 + 2 1074 c.754C>A c.(754-756)Cca>Aca p.P252T NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 252 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.P252S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CATTTCTGAGCCAGAAAGTGT 0.483000 22 73 1.55795e-14 1.86953e-14 1 1 0 PITX1 5307 broad.mit.edu 37 5 134364688 134364688 + Silent SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr5:134364688G>T ENST00000265340.7 - 3 1142 c.726C>A c.(724-726)ctC>ctA p.L242L PITX1_ENST00000506438.1_Silent_p.L242L NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 242 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TGATGTTGTTGAGGCCCGAGT 0.662000 7 39 8.12818e-05 8.80553e-05 1 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52705057 52705057 + Silent SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:52705057C>A ENST00000287727.3 + 4 2140 c.1968C>A c.(1966-1968)atC>atA p.I656I ZFYVE9_ENST00000371591.1_Silent_p.I656I|ZFYVE9_ENST00000361625.1_Silent_p.I656I|ZFYVE9_ENST00000357206.2_Silent_p.I656I NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 656 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AGGCTGAGATCTCCACTAGAC 0.443000 29 87 1.16021e-09 1.34069e-09 1 1 0 EPB41L4A 64097 broad.mit.edu 37 5 111576462 111576462 + Missense_Mutation SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr5:111576462A>T ENST00000261486.5 - 10 1117 c.841T>A c.(841-843)Tgc>Agc p.C281S RP11-526F3.1_ENST00000504004.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 281 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGGTGCTTGCAAGCAGTTTTA 0.343000 6 28 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123657346 123657346 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrX:123657346C>G ENST00000422452.2 - 17 2964 c.2901G>C c.(2899-2901)caG>caC p.Q967H TENM1_ENST00000371130.3_Missense_Mutation_p.Q967H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATACAACTCTCTGCATGGTGA 0.483000 12 39 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523915 42523915 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr22:42523915G>A ENST00000360608.5 - 6 1028 c.914C>T c.(913-915)gCc>gTc p.A305V NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A305V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A254V NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 305 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACCATCCCGGCAGAGAACAG 0.607000 8 73 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108716281 108716281 + Missense_Mutation SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:108716281A>T ENST00000263054.6 - 2 623 c.616T>A c.(616-618)Tcg>Acg p.S206T SORCS1_ENST00000344440.6_Missense_Mutation_p.S206T NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 206 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTCCAAAGCGAGCTCTCTGTG 0.423000 8 27 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334208 77334208 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr16:77334208A>G ENST00000282849.5 - 17 3044 c.2626T>C c.(2626-2628)Tat>Cat p.Y876H NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 876 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTCCAGGTATAGGCAGGTCTT 0.468000 4 51 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37936551 37936551 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:37936551G>C ENST00000199447.4 + 17 1996 c.1624G>C c.(1624-1626)Gaa>Caa p.E542Q NME8_ENST00000440017.1_Missense_Mutation_p.E542Q|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 542 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AACAGACCCAGAAGAAGCAAA 0.453000 6 109 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191029 152191029 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:152191029G>A ENST00000368801.2 - 3 3151 c.3076C>T c.(3076-3078)Cca>Tca p.P1026S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1026 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) GACCTATATGGGCCATAGCTG 0.602000 109 177 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 853491 853491 + Silent SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:853491T>A ENST00000314167.4 - 24 3296 c.3186A>T c.(3184-3186)ggA>ggT p.G1062G GAK_ENST00000511163.1_Silent_p.G983G|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1062 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCGGCTGACCTCCAGGAGAGA 0.617000 7 52 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772531 99772531 + Missense_Mutation SNP A A C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:99772531A>C ENST00000370185.3 + 7 2754 c.2257A>C c.(2257-2259)Aaa>Caa p.K753Q LPPR4_ENST00000370184.1_Missense_Mutation_p.K595Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.K695Q NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 753 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TATCTTCTACAAAGGAACCTC 0.458000 12 66 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62122834 62122834 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:62122834G>A ENST00000433197.2 - 20 2633 c.2538C>T c.(2536-2538)agC>agT p.S846S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 846 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CTATTCTGTCGCTCACGTCCT 0.542000 11 47 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129080 68129080 + Silent SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:68129080T>C ENST00000585558.1 + 4 1345 c.957T>C c.(955-957)taT>taC p.Y319Y KCNJ16_ENST00000589377.1_Silent_p.Y284Y|KCNJ16_ENST00000392671.1_Silent_p.Y284Y|KCNJ16_ENST00000392670.1_Silent_p.Y284Y|KCNJ16_ENST00000283936.1_Silent_p.Y284Y|KCNJ16_ENST00000586462.1_Silent_p.Y323Y Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 284 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CATTTATCTATACTGGTGATT 0.418000 48 66 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7804770 7804770 + Missense_Mutation SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr5:7804770G>T ENST00000338316.4 + 22 2937 c.2848G>T c.(2848-2850)Ggt>Tgt p.G950C ADCY2_ENST00000537121.1_Missense_Mutation_p.G770C NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 950 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGCAGCAACAGGTCTGAGCGC 0.527000 4 32 0.000602214 0.000634767 1 1 0 PCYOX1L 78991 broad.mit.edu 37 5 148743614 148743614 + Missense_Mutation SNP G G A rs35456382 byFrequency TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr5:148743614G>A ENST00000514349.1 + 2 620 c.41G>A c.(40-42)cGc>cAc p.R14H PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R104H Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 104 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCACCGGCGCGAGGTGGTG 0.602000 10 43 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132194150 132194150 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr6:132194150C>A ENST00000360971.2 + 15 1545 c.1525C>A c.(1525-1527)Ccc>Acc p.P509T NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 509 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TAGAATTGAGCCCTTGACATT 0.433000 18 162 1.99824e-07 2.24262e-07 1 1 0 SMCHD1 23347 broad.mit.edu 37 18 2760723 2760723 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr18:2760723C>G ENST00000320876.6 + 35 4758 c.4420C>G c.(4420-4422)Ctc>Gtc p.L1474V SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1474V|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1474 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AACAAATATTCTCAACAGTGA 0.294000 5 33 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52901118 52901118 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:52901118G>A ENST00000371544.3 - 27 4441 c.4179C>T c.(4177-4179)aaC>aaT p.N1393N ZCCHC11_ENST00000257177.4_Silent_p.N1394N NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1393 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CATTTACAAGGTTGCGGACCA 0.438000 5 35 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627799 26627799 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr8:26627799C>T ENST00000380573.3 - 3 2291 c.1268G>A c.(1267-1269)cGg>cAg p.R423Q ADRA1A_ENST00000380586.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Splice_Site_p.R423_splice|ADRA1A_ENST00000380582.3_Splice_Site_p.R423_splice|ADRA1A_ENST00000354550.4_Splice_Site_p.R423_splice|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423Q P35348 ADA1A_HUMAN adrenoceptor alpha 1A 423 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) ACTTCTCACCCGGGCTGTGGT 0.507000 39 54 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309152 248309152 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:248309152C>G ENST00000366476.1 + 1 703 c.703C>G c.(703-705)Cgc>Ggc p.R235G NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R235C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AGAGGGTCGTCGCAAAGCTTT 0.473000 88 171 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927520 92927520 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrX:92927520C>A ENST00000373079.3 - 1 1047 c.784G>T c.(784-786)Gat>Tat p.D262Y NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 262 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TGTTCTTTATCATCTGCCTTT 0.443000 9 50 2.17888e-05 2.3937e-05 1 1 0 CPEB2 132864 broad.mit.edu 37 4 15063828 15063828 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:15063828A>G ENST00000538197.1 + 11 2821 c.2821A>G c.(2821-2823)Att>Gtt p.I941V CPEB2_ENST00000345451.3_Missense_Mutation_p.I466V|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I504V|CPEB2_ENST00000541112.1_Missense_Mutation_p.I933V|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I469V|CPEB2_ENST00000507071.1_Missense_Mutation_p.I496V|CPEB2_ENST00000382395.3_Missense_Mutation_p.I474V|CPEB2_ENST00000442003.2_Missense_Mutation_p.I914V NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 496 regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 GCAGAGCTATATTGCTGCCAT 0.418000 17 133 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400822 195400822 + RNA SNP G G A rs56170658 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:195400822G>A ENST00000445430.1 + 0 1418 GTCTGGTCAGGCATGTGCCCT 0.572000 4 38 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119754819 119754819 + Silent SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:119754819C>G ENST00000379735.5 - 2 304 c.33G>C c.(31-33)ccG>ccC p.P11P SEC24D_ENST00000280551.6_Silent_p.P11P|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 11 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GCTGAGAATACGGAGGTGTAG 0.433000 8 59 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24516638 24516638 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:24516638G>C ENST00000355123.4 - 15 2085 c.1642C>G c.(1642-1644)Cag>Gag p.Q548E ITSN2_ENST00000406921.3_Missense_Mutation_p.Q548E|ITSN2_ENST00000361999.3_Missense_Mutation_p.Q548E NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 548 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTTATTCTGATATTCCTTA 0.284000 5 33 0 0 1 0 0 UAP1 6675 broad.mit.edu 37 1 162569111 162569111 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:162569111C>T ENST00000271469.3 + 11 1829 c.1527C>T c.(1525-1527)atC>atT p.I509I UAP1_ENST00000367925.1_Silent_p.I509I|UAP1_ENST00000367924.1_Silent_p.I508I|UAP1_ENST00000367926.4_Silent_p.I492I|UAP1_ENST00000486089.1_3'UTR Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 509 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CTCTAATCATCGATGAGAATG 0.343000 3 34 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74418524 74418524 + Splice_Site SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:74418524A>G ENST00000263665.6 - 7 789 c.761_splice c.e7-1 p.N254_splice NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 254 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAGGTATGGGACTAAGAAGAA 0.378000 5 24 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72552938 72552938 + Missense_Mutation SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:72552938T>C ENST00000569795.1 - 10 1324 c.637A>G c.(637-639)Atc>Gtc p.I213V PARP6_ENST00000260376.7_Missense_Mutation_p.I213V|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.I213V Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 213 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 GTACAGGAGATGGAACGGTTC 0.582000 135 231 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31947302 31947302 + Nonsense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:31947302C>A ENST00000382902.1 - 1 240 c.148G>T c.(148-150)Gaa>Taa p.E50* OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E50* Q8TE49 OTU7A_HUMAN OTU domain containing 7A 50 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGCTTACCTTCCAGCAGGTCT 0.507000 12 9 0.000219431 0.000236078 1 1 0 ZIC3 7547 broad.mit.edu 37 X 136649292 136649292 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrX:136649292C>A ENST00000287538.5 + 1 992 c.442C>A c.(442-444)Cat>Aat p.H148N ZIC3_ENST00000370606.3_Missense_Mutation_p.H148N NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 148 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) GAGCAGCCTGCATGCTCCAGC 0.701000 4 12 0.00909568 0.00927403 1 1 0 C11orf70 85016 broad.mit.edu 37 11 101951964 101951964 + Silent SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:101951964A>G ENST00000434758.2 + 6 655 c.627A>G c.(625-627)caA>caG p.Q209Q C11orf70_ENST00000526781.1_Silent_p.Q209Q NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 209 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGAATCCTCAAACCAAGAAAA 0.284000 8 26 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25231988 25231988 + RNA SNP C C G rs59131251 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:25231988C>G ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 AGAGATGACACgtgtatgtgc 0.478000 3 19 0 0 1 0 0 TCTN3 26123 broad.mit.edu 37 10 97447374 97447374 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:97447374G>C ENST00000265993.8 - 4 845 c.602C>G c.(601-603)aCt>aGt p.T201S TCTN3_ENST00000371217.4_Missense_Mutation_p.T219S|TCTN3_ENST00000430368.1_Intron|TCTN3_ENST00000371209.5_Missense_Mutation_p.T201S NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 201 apoptosis integral to membrane 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) TGGTGATTGAGTTTGGAATGT 0.443000 13 28 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580524 49580524 + Silent SNP G G A rs139102191 byFrequency TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:49580524G>A ENST00000301071.7 - 2 440 c.96C>T c.(94-96)ccC>ccT p.P32P TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000295766.5_Silent_p.P32P|TUBA1A_ENST00000546918.1_Silent_p.P32P NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 32 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 TCTGGCCATCGGGCTGGATGC 0.602000 12 60 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47860937 47860937 + Missense_Mutation SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr21:47860937T>A ENST00000359568.5 + 43 9670 c.9563T>A c.(9562-9564)aTc>aAc p.I3188N PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3188 Interaction with NEK2. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAACGGAAAATCACATCTCGT 0.473000 20 38 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588703 153588703 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrX:153588703C>T ENST00000422373.1 - 22 3708 c.3460G>A c.(3460-3462)Gtg>Atg p.V1154M FLNA_ENST00000344736.4_Missense_Mutation_p.V1154M|FLNA_ENST00000369850.3_Missense_Mutation_p.V1154M|FLNA_ENST00000360319.4_Missense_Mutation_p.V1154M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1154 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGGGAACCACGTGGGCCTTG 0.622000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 36 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299853 158299853 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:158299853C>T ENST00000368168.3 - 3 503 c.396G>A c.(394-396)ctG>ctA p.L132L NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 132 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) GAGCTCCCCTCAGGAAGCTTA 0.488000 35 163 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607444 53607444 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:53607444G>A ENST00000425354.2 - 8 1341 c.854C>T c.(853-855)aCc>aTc p.T285I RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.T285I|RARG_ENST00000338561.5_Missense_Mutation_p.T274I|RARG_ENST00000327550.3_Missense_Mutation_p.T213I|RARG_ENST00000543726.1_Missense_Mutation_p.T263I NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 285 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAAGGTCATGGTGTCCTGCTC 0.602000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 54 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639489 53639489 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr16:53639489C>T ENST00000262135.4 - 24 3592 c.3499G>A c.(3499-3501)Gag>Aag p.E1167K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E1247K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1201K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1213K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1247 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AGGTCCTGCTCGTCCTCTGGA 0.527000 7 48 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183891453 183891453 + Missense_Mutation SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:183891453T>C ENST00000304685.3 + 18 2668 c.2207T>C c.(2206-2208)gTc>gCc p.V736A RGL1_ENST00000360851.3_Missense_Mutation_p.V701A|RGL1_ENST00000539189.1_Missense_Mutation_p.V672A|RGL1_ENST00000367531.1_Missense_Mutation_p.V736A|RGL1_ENST00000536277.1_Missense_Mutation_p.V699A NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 701 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CTGGTGCAGGTCATCTCGGAG 0.582000 OREG0014047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 27 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107005323 107005323 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:107005323C>A ENST00000369701.3 + 21 3119 c.2892C>A c.(2890-2892)agC>agA p.S964R SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 964 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGACAGCAGCATTTCCTTCA 0.453000 16 115 3.45872e-05 3.77315e-05 1 1 0 TRBC2 28638 broad.mit.edu 37 7 142499762 142499762 + RNA SNP A A G rs706 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:142499762A>G ENST00000466254.1 + 0 405 GTGCACAGGTACCTACATGCT 0.542000 4 135 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25622137 25622137 + Missense_Mutation SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:25622137A>T ENST00000330688.4 + 5 1131 c.710A>T c.(709-711)aAa>aTa p.K237I RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.K125I|RARB_ENST00000404969.1_Missense_Mutation_p.K244I|RARB_ENST00000458646.1_Missense_Mutation_p.K125I NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 244 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) GAGTTTGCTAAACGTCTGCCT 0.517000 6 58 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507257 64507257 + Missense_Mutation SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:64507257T>A ENST00000377494.1 - 6 1469 c.547A>T c.(547-549)Act>Tct p.T183S RASGRP2_ENST00000377497.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000394432.3_Missense_Mutation_p.T183S|RASGRP2_ENST00000354024.3_Missense_Mutation_p.T183S Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 183 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGCCATGAGTCACGAAACTG 0.582000 21 47 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112545855 112545855 + Missense_Mutation SNP C C T rs142953807 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:112545855C>T ENST00000488794.1 - 6 1190 c.601G>A c.(601-603)Gta>Ata p.V201I CD200R1L_ENST00000398214.1_Missense_Mutation_p.V222I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V201I Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 222 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TTCAACTTTACGGACAGACTC 0.448000 9 77 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117222548 117222548 + Silent SNP C C T rs149281923 TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:117222548C>T ENST00000278935.3 + 5 384 c.237C>T c.(235-237)aaC>aaT p.N79N NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 79 Interaction with ATRIP.|WW. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) ACTTCGCCAACGGGCAGTCTA 0.478000 10 53 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4609473 4609473 + Nonsense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:4609473G>C ENST00000261250.3 - 11 1358 c.1271C>G c.(1270-1272)tCa>tGa p.S424* C12orf4_ENST00000545746.1_Nonsense_Mutation_p.S424* NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 424 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ATGGATTTCTGAGAGATTAGA 0.393000 17 44 0 0 1 0 0 IGLJ2 28832 broad.mit.edu 37 22 23241811 23241811 + RNA SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr22:23241811G>A ENST00000390322.2 + 0 151 GGTATTCGGCGGAGGGACCAA 0.562000 36 55 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996173 2996173 + Missense_Mutation SNP C C G rs140099014 byFrequency TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:2996173C>G ENST00000331459.1 - 1 117 c.118G>C c.(118-120)Gtg>Ctg p.V40L NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 40 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 ACATTTCCCACCACCGTGACC 0.547000 6 124 0 0 1 0 0 BROX 148362 broad.mit.edu 37 1 222897441 222897441 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:222897441G>C ENST00000340934.5 + 6 815 c.409G>C c.(409-411)Gaa>Caa p.E137Q BROX_ENST00000539697.1_Missense_Mutation_p.E105Q|BROX_ENST00000537020.1_Missense_Mutation_p.E137Q NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 137 BRO1. membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 AAGTATAACAGAAGATGAAGC 0.303000 6 24 0 0 1 0 0 PLS3 5358 broad.mit.edu 37 X 114874792 114874792 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chrX:114874792G>A ENST00000420625.2 + 9 1098 c.964G>A c.(964-966)Gat>Aat p.D322N PLS3_ENST00000537301.1_Missense_Mutation_p.D309N|PLS3_ENST00000355899.3_Missense_Mutation_p.D322N|PLS3_ENST00000289290.3_Missense_Mutation_p.D286N|PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.D277N NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 322 Actin-binding 1.|CH 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 ACCACGGATAGATATTAACAT 0.313000 11 26 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17599307 17599307 + Silent SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr20:17599307T>C ENST00000377813.1 - 20 3996 c.3693A>G c.(3691-3693)ctA>ctG p.L1231L RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.L798L|RRBP1_ENST00000377807.2_Silent_p.L798L|RRBP1_ENST00000455029.2_Silent_p.L572L|RRBP1_ENST00000246043.4_Silent_p.L1231L Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1231 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 ATTGAGATTCTAGGAGAAGTT 0.542000 6 46 0 0 1 0 0 DNAJB11 51726 broad.mit.edu 37 3 186289893 186289893 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:186289893C>G ENST00000439351.1 + 3 1007 c.78C>G c.(76-78)ttC>ttG p.F26L DNAJB11_ENST00000265028.3_Missense_Mutation_p.F26L Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 26 J. protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GACGAGATTTCTATAAGATCT 0.393000 4 58 0 0 1 0 0 PMF1 11243 broad.mit.edu 37 1 156209338 156209338 + Splice_Site SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:156209338G>T ENST00000368277.3 + 5 573 c.e5-1 PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Splice_Site|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000368273.4_Splice_Site|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) ATTGATTTCAGGCTCTACACA 0.567000 23 89 1.42536e-11 1.67185e-11 1 1 0 DUSP4 1846 broad.mit.edu 37 8 29207652 29207652 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr8:29207652C>T ENST00000240100.2 - 1 533 c.144G>A c.(142-144)ctG>ctA p.L48L NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 48 Rhodanese. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GTCTGCAGTCCAGCAGCAGGC 0.687000 8 13 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205156746 205156746 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:205156746G>A ENST00000367162.3 - 2 484 c.454C>T c.(454-456)Cgc>Tgc p.R152C DSTYK_ENST00000367161.3_Missense_Mutation_p.R152C|DSTYK_ENST00000367160.4_Missense_Mutation_p.R152C NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 152 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AAGCGGAGGCGCCGAAGCTTA 0.587000 5 45 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43531711 43531711 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr21:43531711G>A ENST00000400427.1 + 11 2559 c.2163G>A c.(2161-2163)cgG>cgA p.R721R UMODL1_ENST00000400424.1_Silent_p.R593R|UMODL1_ENST00000408910.2_Silent_p.R665R|UMODL1_ENST00000408989.2_Silent_p.R793R NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 718 Fibronectin type-III 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTTCCACCCGGGAAACACTTC 0.602000 18 24 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18255941 18255941 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr19:18255941G>A ENST00000262811.5 + 23 2854 c.2854G>A c.(2854-2856)Gtt>Att p.V952I AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 952 PDZ. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCCCCCCATCGTTATCCACAG 0.652000 21 108 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74949804 74949804 + Silent SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr16:74949804G>C ENST00000262144.6 - 13 1318 c.1188C>G c.(1186-1188)tcC>tcG p.S396S NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 396 RWD. breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CATTGATCAGGGAGAATTCCT 0.468000 7 56 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109870185 109870185 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:109870185C>T ENST00000256637.6 - 12 1468 c.1410G>A c.(1408-1410)caG>caA p.Q470Q SORT1_ENST00000538502.1_Silent_p.Q333Q NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 470 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) CATTCAGTTTCTGGGAGATGC 0.438000 9 34 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189281 7189281 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:7189281C>A ENST00000424875.2 + 10 1647 c.1350C>A c.(1348-1350)caC>caA p.H450Q SLC2A4_ENST00000571308.1_Missense_Mutation_p.H460Q|SLC2A4_ENST00000317370.8_Intron P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 0 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGGCATCACACAGCTAGCCCA 0.592000 4 11 0.00024832 0.000265328 1 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38172932 38172932 + Splice_Site SNP A A T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr8:38172932A>T ENST00000317025.8 - 11 2633 c.e11+1 WHSC1L1_ENST00000527502.1_Splice_Site|WHSC1L1_ENST00000433384.2_Splice_Site NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTACCTGCCTACCTGACATAC 0.403000 T NUP98 AML 19 141 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48703424 48703424 + Missense_Mutation SNP C C G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:48703424C>G ENST00000236495.5 + 12 1491 c.1441C>G c.(1441-1443)Ctc>Gtc p.L481V SLC5A9_ENST00000533824.1_Missense_Mutation_p.L477V|SLC5A9_ENST00000438567.2_Missense_Mutation_p.L456V NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 456 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CAGTGGGCAGCTCTTCGACTA 0.572000 7 64 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20666448 20666448 + RNA SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr15:20666448C>T ENST00000428453.1 - 0 870 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCTTACTGGCACATTCAATC 0.433000 3 22 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180377524 180377524 + Nonsense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:180377524C>A ENST00000273654.4 - 11 1421 c.802G>T c.(802-804)Gaa>Taa p.E268* CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E184* Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 184 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.E268*(1) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGATTACATTCCAAAGTTAGT 0.289000 3 32 0.004672 0.0048267 1 1 0 CYP4B1 1580 broad.mit.edu 37 1 47279207 47279207 + Silent SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:47279207T>C ENST00000271153.4 + 5 585 c.549T>C c.(547-549)gaT>gaC p.D183D CYP4B1_ENST00000452782.2_Silent_p.D20D|CYP4B1_ENST00000371919.4_Silent_p.D168D|CYP4B1_ENST00000371923.4_Silent_p.D183D P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 183 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TCTTCTGCGATGTGGGTCACA 0.587000 6 57 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79461549 79461549 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr9:79461549C>T ENST00000376718.3 - 4 513 c.390G>A c.(388-390)ccG>ccA p.P130P PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.P130P NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 130 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGCTCAACCGGATTAATGA 0.458000 6 27 0 0 1 0 0 ZBTB25 7597 broad.mit.edu 37 14 64954651 64954651 + Nonsense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:64954651G>A ENST00000394715.1 - 6 999 c.298C>T c.(298-300)Cga>Tga p.R100* ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.R100* P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 100 BTB. cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TGAAGAAATCGAATCCCTTCC 0.423000 10 77 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33461017 33461017 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr5:33461017G>C ENST00000265112.3 + 12 1572 c.1261G>C c.(1261-1263)Gat>Cat p.D421H TARS_ENST00000541634.1_Missense_Mutation_p.D317H|TARS_ENST00000502553.1_Missense_Mutation_p.D421H|TARS_ENST00000455217.2_Missense_Mutation_p.D454H|TARS_ENST00000414361.2_Missense_Mutation_p.D300H NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 421 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CCTTATGTTTGATCATCGGCC 0.453000 5 49 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158531858 158531858 + Splice_Site SNP T T C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:158531858T>C ENST00000415822.2 + 7 940 c.e7+2 MFSD1_ENST00000264266.8_Splice_Site|MFSD1_ENST00000392813.4_Splice_Site NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTATGATTGGTGAGTGAATCC 0.448000 6 38 0 0 1 0 0 ZFYVE21 79038 broad.mit.edu 37 14 104199002 104199002 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:104199002C>T ENST00000216602.6 + 7 738 c.626C>T c.(625-627)cCg>cTg p.P209L ZFYVE21_ENST00000311141.2_Missense_Mutation_p.P191L NM_001198953.1 NP_001185882.1 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 191 cytoplasmic membrane-bounded vesicle|focal adhesion metal ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2) 8 Melanoma(154;0.226) Epithelial(152;0.245) TATACAGTGCCGGGGACGGAG 0.642000 7 63 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31709908 31709908 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr18:31709908G>A ENST00000261592.5 - 2 638 c.341C>T c.(340-342)tCg>tTg p.S114L NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 114 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CACATGCATCGAATAAATAAT 0.388000 8 26 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66826405 66826405 + Missense_Mutation SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:66826405G>T ENST00000359742.4 - 14 1931 c.1691C>A c.(1690-1692)tCt>tAt p.S564Y GRIP1_ENST00000398016.3_Missense_Mutation_p.S512Y|GRIP1_ENST00000286445.7_Missense_Mutation_p.S564Y Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 564 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TGGGATGACAGACTCTAATAT 0.328000 5 17 0.00116845 0.00122334 1 1 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 18 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569809 248569809 + Missense_Mutation SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:248569809C>T ENST00000366474.1 + 1 514 c.514C>T c.(514-516)Cgc>Tgc p.R172C NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GGCCTATGACCGCTATGTGGC 0.532000 9 110 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51696557 51696557 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:51696557C>T ENST00000409535.1 + 22 3650 c.3525C>T c.(3523-3525)atC>atT p.I1175I RAD54L2_ENST00000296477.3_Silent_p.I869I NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1175 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GCCCAGAGATCATCAGTGAGC 0.647000 9 37 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966826 41966826 + Missense_Mutation SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:41966826C>A ENST00000298919.7 + 10 1853 c.1465C>A c.(1465-1467)Ccg>Acg p.P489T PDZRN4_ENST00000539469.2_Missense_Mutation_p.P491T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.P749T Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 749 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CAGAAGTACTCCGCTCACTGT 0.493000 11 78 1.08611e-07 1.22777e-07 1 1 0 PPP1CA 5499 broad.mit.edu 37 11 67167046 67167046 + Missense_Mutation SNP A A C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:67167046A>C ENST00000376745.4 - 4 657 c.509T>G c.(508-510)tTc>tGc p.F170C PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.F181C|PPP1CA_ENST00000358239.4_Missense_Mutation_p.F126C NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 170 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GTGGCAGCAGAAGATCTTTTC 0.592000 7 37 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187419765 187419765 + Missense_Mutation SNP T T G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr3:187419765T>G ENST00000358241.1 - 1 580 c.152A>C c.(151-153)cAc>cCc p.H51P NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 51 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GCCTGAGGCGTGCTGCTCCAG 0.622000 15 112 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4936857 4936857 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:4936857C>T ENST00000512825.2 - 3 2338 c.927G>A c.(925-927)ggG>ggA p.G309G SLC52A1_ENST00000254853.5_Silent_p.G309G|SLC52A1_ENST00000424747.1_Silent_p.G309G Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 309 integral to plasma membrane receptor activity|riboflavin transporter activity AGGCCAGGCGCCCATAGGGCA 0.642000 23 30 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78355364 78355364 + Silent SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:78355364T>A ENST00000582970.1 + 57 13958 c.13815T>A c.(13813-13815)atT>atA p.I4605I CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2678I|RNF213_ENST00000508628.2_Silent_p.I4654I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TAAACATCATTAAGCCTCCAG 0.547000 16 24 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74447538 74447538 + Silent SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr16:74447538G>T ENST00000339953.5 - 4 614 c.493C>A c.(493-495)Cgg>Agg p.R165R NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 165 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACAGGTGCCGCCCACAGCCC 0.612000 6 106 0.0215528 0.0216918 1 1 0 TPCN1 53373 broad.mit.edu 37 12 113715134 113715134 + Silent SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:113715134C>T ENST00000550785.1 + 13 1534 c.1365C>T c.(1363-1365)ttC>ttT p.F455F TPCN1_ENST00000392569.4_Silent_p.F315F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000335509.6_Silent_p.F383F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 383 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F383F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ATCTTACCTTCAAGGCCCTGA 0.582000 5 28 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43967419 43967419 + Missense_Mutation SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr19:43967419G>T ENST00000244333.3 - 4 491 c.403C>A c.(403-405)Ccc>Acc p.P135T NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 135 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACGCCGTTGGGCGGGTATGCA 0.637000 15 34 6.31663e-08 7.19266e-08 1 1 0 TRAV6 6956 broad.mit.edu 37 14 22237191 22237191 + RNA SNP C C A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:22237191C>A ENST00000390428.3 + 0 275 GCTACTCATACGTGAAAATGA 0.448000 16 65 6.72482e-11 7.8289e-11 1 1 0 OR11H12 440153 broad.mit.edu 37 14 19377698 19377698 + Missense_Mutation SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr14:19377698G>T ENST00000550708.1 + 1 177 c.105G>T c.(103-105)gaG>gaT p.E35D NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCACTTGTGAGTGGACAATTC 0.433000 12 74 9.31168e-06 1.03023e-05 1 1 0 TRHDE 29953 broad.mit.edu 37 12 72969048 72969048 + Silent SNP A A C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:72969048A>C ENST00000261180.4 + 11 2106 c.2010A>C c.(2008-2010)atA>atC p.I670I TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 670 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACCACAGAATAACTTATTTGG 0.338000 5 36 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40844735 40844735 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr17:40844735G>A ENST00000264638.4 + 17 2966 c.2749G>A c.(2749-2751)Gtg>Atg p.V917M CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 917 Laminin G-like 3. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCCCCTCTATGTGGGTAAGCA 0.602000 18 22 0 0 1 0 0 CLIC4 25932 broad.mit.edu 37 1 25167425 25167425 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr1:25167425G>A ENST00000374379.4 + 6 956 c.759G>A c.(757-759)aaG>aaA p.K253K NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 253 cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) GACTCACCAAGTAAAATCGCG 0.408000 9 70 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155528120 155528120 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:155528120G>A ENST00000404648.3 - 8 1105 c.866C>T c.(865-867)gCc>gTc p.A289V FGG_ENST00000407946.1_Missense_Mutation_p.A297V|FGG_ENST00000405164.1_Missense_Mutation_p.A297V|FGG_ENST00000336098.3_Missense_Mutation_p.A289V NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 289 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTTGAACATGGCATAGTCTGC 0.493000 8 54 0 0 1 0 0 FBXO8 26269 broad.mit.edu 37 4 175183944 175183944 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:175183944G>A ENST00000393674.2 - 2 1162 c.300C>T c.(298-300)gaC>gaT p.D100D FBXO8_ENST00000503293.1_Silent_p.D59D NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 100 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) CATTCGCAAGGTCCTGCCAAA 0.393000 4 30 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53645507 53645507 + Missense_Mutation SNP G G C TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr19:53645507G>C ENST00000452676.2 - 5 1003 c.577C>G c.(577-579)Ctg>Gtg p.L193V ZNF347_ENST00000334197.7_Missense_Mutation_p.L192V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.L193V NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGTTCAGGCAGATGTGACTGA 0.368000 11 72 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101215068 101215068 + Missense_Mutation SNP T T A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr6:101215068T>A ENST00000369162.2 - 9 1893 c.1549A>T c.(1549-1551)Att>Ttt p.I517F ASCC3_ENST00000522650.1_Missense_Mutation_p.I517F NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 517 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding 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) TGTTGGCGAATTTCATGCAAG 0.348000 26 51 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27856133 27856133 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr7:27856133A>G ENST00000396319.2 + 14 2018 c.1930A>G c.(1930-1932)Aca>Gca p.T644A TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T668A|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 644 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) ATCTCAGGAAACAAGAGGTTA 0.343000 25 127 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967328 81967328 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr4:81967328G>A ENST00000282701.2 + 2 1073 c.753G>A c.(751-753)gaG>gaA p.E251E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 251 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCATTTCTGAGCCAGAAAGTG 0.483000 22 77 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68582883 68582883 + Silent SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr11:68582883G>A ENST00000265641.5 - 2 214 c.60C>T c.(58-60)gaC>gaT p.D20D CPT1A_ENST00000540367.1_Silent_p.D20D|CPT1A_ENST00000539743.1_Silent_p.D20D|CPT1A_ENST00000376618.2_Silent_p.D20D NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 20 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TCAGCCGCAGGTCAATCCCGT 0.463000 5 72 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21306917 21306917 + Splice_Site SNP C C T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr20:21306917C>T ENST00000377191.3 + 2 171 c.75_splice c.e2-1 p.P26_splice XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 26 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 TTCCTCATAGCCAAAAGAATG 0.333000 5 46 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134128920 134128920 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr8:134128920G>A ENST00000220616.4 + 45 7862 c.7822G>A c.(7822-7824)Gtc>Atc p.V2608I TG_ENST00000377869.1_Missense_Mutation_p.V2551I|TG_ENST00000542445.1_Missense_Mutation_p.V978I|TG_ENST00000519543.1_Missense_Mutation_p.V741I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2608 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCGAGGAAACGTCTTCATGTA 0.512000 11 80 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36341934 36341934 + Missense_Mutation SNP G G A TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr19:36341934G>A ENST00000378910.5 - 4 454 c.455C>T c.(454-456)gCt>gTt p.A152V NPHS1_ENST00000353632.6_Missense_Mutation_p.A152V NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 152 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCTGCCCAGCTACCCAGGT 0.602000 3 42 0 0 1 0 0 SCRN3 79634 broad.mit.edu 37 2 175292538 175292549 + In_Frame_Del DEL AGAAAATTGTTA AGAAAATTGTTA - TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr2:175292538_175292549delAGAAAATTGTTA ENST00000272732.6 + 8 1272_1283 c.1190_1201delAGAAAATTGTTA c.(1189-1203)gat>g p.EKIVN397del SCRN3_ENST00000409673.3_In_Frame_Del_p.EKIVN390del|SCRN3_ENST00000548921.1_3'UTR NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 397 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) CTTGATGTGGAGAAAATTGTTAATCTCTTTCC 0.321 8 30 --- --- --- --- PTPRB 5787 broad.mit.edu 37 12 70983904 70983924 + In_Frame_Del DEL GAGTAGGATCCGATACTGCTC GAGTAGGATCCGATACTGCTC - TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr12:70983904_70983924delGAGTAGGATCCGATACTGCTC ENST00000334414.6 - 8 1914_1934 c.1870_1890delGAGCAGTATCGGATCCTACTC c.(1870-1890)del p.EQYRILL624del PTPRB_ENST00000551525.1_In_Frame_Del_p.EQYRILL623del|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_In_Frame_Del_p.EQYRILL406del|PTPRB_ENST00000550358.1_In_Frame_Del_p.EQYRILL624del|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_In_Frame_Del_p.EQYRILL406del NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 406 Fibronectin type-III 7. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I410I(2)|p.R409R(2)|p.I628I(1)|p.R627R(1)|p.L412P(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AATCATTGAAGAGTAGGATCCGATACTGCTCCCAGTCTCCA 0.507 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 73 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73467972 73467973 + Frame_Shift_Ins INS - - T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a0aa7be-5c98-48b3-b58b-a289643ed2e0 c9738e6d-fbef-41e4-98d5-3ed2934f18bd g.chr13:73467972_73467973insT ENST00000326291.6 + 11 1711_1712 c.1373_1374insT c.(1372-1374)ccafs p.P458fs NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 458 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GAATTTCTCCATCAAAGTAAAT 0.351 22 34 --- --- --- ---