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 FAM86EP 348926 broad.mit.edu 37 4 3948468 3948468 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:3948468C>A ENST00000313946.8 - 0 1232 GGGGACCATGCAGGCCCGGGT 0.632000 6 12 2.17888e-05 2.68107e-05 0.058154 1 0 NAV3 89795 broad.mit.edu 37 12 78362297 78362297 + Splice_Site SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:78362297A>T ENST00000397909.2 + 5 660 c.e5-1 NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site Q8IVL0 NAV3_HUMAN neuron navigator 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATTTCATACAGAAATAAGAA 0.308000 HNSCC(70;0.22) 3 18 0 0 0.009096 0 0 OR10J3 441911 broad.mit.edu 37 1 159284105 159284105 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:159284105C>A ENST00000332217.5 - 1 344 c.345G>T c.(343-345)ctG>ctT p.L115L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TGACTGTGAGCAGGAAGCAGT 0.507000 16 112 7.05477e-17 1.27952e-16 0.033300 1 0 PRKAG3 53632 broad.mit.edu 37 2 219695018 219695018 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:219695018C>G ENST00000439262.2 - 4 336 c.241G>C c.(241-243)Ggg>Cgg p.G81R PRKAG3_ENST00000392098.3_Missense_Mutation_p.G106R|PRKAG3_ENST00000545803.1_Intron|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G106R NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 106 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGCCCACCCCGGCAGGATCA 0.647000 4 12 0 0 0.014758 0 0 SGCZ 137868 broad.mit.edu 37 8 13959885 13959885 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:13959885C>A ENST00000382080.1 - 7 1459 c.744_splice c.e7+1 p.E248_splice SGCZ_ENST00000421524.2_Splice_Site_p.E201_splice NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 235 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGGGACTCACCTCCCCTTCTG 0.488000 17 67 4.75885e-15 8.33428e-15 0.033300 1 0 PCED1A 64773 broad.mit.edu 37 20 2819684 2819684 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:2819684C>A ENST00000360652.2 - 4 751 c.249G>T c.(247-249)caG>caT p.Q83H PCED1A_ENST00000356872.3_Intron NM_022760.3 NP_073597.2 PC-esterase domain containing 1A GCTCGCCCAGCTGGCCCCCAG 0.637000 8 22 2.17888e-05 2.68107e-05 0.058154 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33881244 33881244 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:33881244G>A ENST00000504830.1 - 2 804 c.469C>T c.(469-471)Ctc>Ttc p.L157F ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L157F|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.L157F NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 157 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CAGGCACTGAGGGCTGCCGTC 0.592000 HNSCC(64;0.19) 15 101 0 0 0.146539 0 0 MALSU1 115416 broad.mit.edu 37 7 23340607 23340607 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:23340607C>T ENST00000466681.1 + 2 559 c.406C>T c.(406-408)Cat>Tat p.H136Y NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 136 mitochondrion CCGACACTTACATGCCATGGC 0.423000 11 53 0 0 0.093190 0 0 CRNN 49860 broad.mit.edu 37 1 152382377 152382377 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:152382377T>C ENST00000271835.3 - 3 1243 c.1181A>G c.(1180-1182)gAg>gGg p.E394G RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 394 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCCTGCCTCAGGGTTGCT 0.597000 27 168 0 0 0.116897 0 0 KMT2C 58508 broad.mit.edu 37 7 151970872 151970872 + Nonsense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:151970872A>T ENST00000355193.2 - 7 1148 c.930T>A c.(928-930)tgT>tgA p.C310* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C310* lysine (K)-specific methyltransferase 2C CTCCTGCAGCACAAGGATAAT 0.448000 8 136 0 0 0.038147 0 0 UPF2 26019 broad.mit.edu 37 10 11971905 11971905 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:11971905C>A ENST00000356352.2 - 20 4241 c.3768G>T c.(3766-3768)aaG>aaT p.K1256N UPF2_ENST00000397053.2_Missense_Mutation_p.K1256N|UPF2_ENST00000357604.5_Missense_Mutation_p.K1256N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1256 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TAGGTGCTCCCTTCGGATGTT 0.453000 25 77 7.87624e-14 1.32674e-13 0.076483 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 38 0 0 0.029380 0 0 LRRN3 54674 broad.mit.edu 37 7 110763521 110763521 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:110763521C>A ENST00000451085.1 + 4 1739 c.693C>A c.(691-693)gcC>gcA p.A231A IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Silent_p.A231A|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Silent_p.A231A|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 231 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CAGATAACGCCTTGGTTGGAC 0.358000 12 47 7.03913e-09 1.02868e-08 0.093190 1 0 OVCH1 341350 broad.mit.edu 37 12 29614890 29614890 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:29614890C>A ENST00000318184.5 - 19 2176 c.2177G>T c.(2176-2178)aGa>aTa p.R726I OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 726 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACAGACCTCTCTTTCTAACAC 0.458000 112 101 4.22328e-53 8.44655e-53 0.139131 1 0 FAM107A 11170 broad.mit.edu 37 3 58552961 58552961 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:58552961G>A ENST00000394481.1 - 4 859 c.301C>T c.(301-303)Ctg>Ttg p.L101L FAM107A_ENST00000447756.2_Silent_p.L129L|FAM107A_ENST00000360997.2_Silent_p.L101L|FAM107A_ENST00000464064.1_Silent_p.L101L|FAM107A_ENST00000474531.1_Silent_p.L132L NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 101 regulation of cell growth nucleus protein binding p.L101L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) TGCCGTCTCAGCAGCTCCTGC 0.642000 10 19 0 0 0.132662 0 0 A2M 2 broad.mit.edu 37 12 9264982 9264982 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:9264982C>T ENST00000318602.7 - 3 728 c.421G>A c.(421-423)Ggg>Agg p.G141R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 141 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CCTGTCTGCCCTGGTTTGTAG 0.448000 9 43 0 0 0.069234 0 0 CPS1 1373 broad.mit.edu 37 2 211464127 211464127 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:211464127C>A ENST00000233072.5 + 14 1587 c.1391C>A c.(1390-1392)cCa>cAa p.P464Q CPS1_ENST00000451903.2_Missense_Mutation_p.P13Q|CPS1_ENST00000430249.2_Missense_Mutation_p.P470Q NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 464 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.P464R(1)|p.P470R(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTGATGAACCCAAACATTGCA 0.398000 9 26 3.09899e-07 4.13615e-07 0.047766 1 0 FNDC8 54752 broad.mit.edu 37 17 33454109 33454109 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:33454109C>A ENST00000158009.5 + 2 373 c.258C>A c.(256-258)agC>agA p.S86R NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 86 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) ATGAGACCAGCATCTCTGCCT 0.562000 21 77 3.62473e-10 5.55457e-10 0.062417 1 0 HCN3 57657 broad.mit.edu 37 1 155253818 155253818 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:155253818C>T ENST00000368358.3 + 3 770 c.762C>T c.(760-762)ctC>ctT p.L254L HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 254 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCTTCAACCTCATTGGGATGA 0.577000 18 130 0 0 0.062417 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42885907 42885907 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:42885907C>A ENST00000342560.5 + 2 383 c.295C>A c.(295-297)Ccc>Acc p.P99T GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.P99T NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 99 GST N-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGAGGAGGTGCCCGTCATCAT 0.622000 6 18 0.0293803 0.030775 0.029380 1 0 ADH1B 125 broad.mit.edu 37 4 100237232 100237232 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:100237232C>A ENST00000305046.8 - 5 457 c.390G>T c.(388-390)agG>agT p.R130S ADH1B_ENST00000394887.3_Missense_Mutation_p.R90S P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 130 Missing (in Ref. 12; AA sequence). ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGCAGGTGAACCTCCTGGTGC 0.552000 10 42 1.76689e-08 2.52087e-08 0.058154 1 0 MARCH8 220972 broad.mit.edu 37 10 45958759 45958759 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:45958759C>A ENST00000453424.2 - 5 1189 c.928G>T c.(928-930)Gac>Tac p.D310Y MARCH8_ENST00000395771.3_Intron|MARCH8_ENST00000319836.3_Intron|MARCH8_ENST00000395769.2_Intron Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 0 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 AAGACATCGTCGTCTCCCATC 0.592000 3 12 0.00024832 0.0002884 0.009096 1 0 LAMA4 3910 broad.mit.edu 37 6 112512973 112512973 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:112512973G>T ENST00000230538.7 - 6 980 c.583C>A c.(583-585)Ccc>Acc p.P195T LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.P195T|LAMA4_ENST00000389463.4_Missense_Mutation_p.P195T|LAMA4_ENST00000522006.1_Missense_Mutation_p.P195T NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 195 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATCAGGTTGGGATCTGAATTT 0.463000 9 28 0.000274275 0.000315226 0.047766 1 0 CHDC2 286464 broad.mit.edu 37 X 36103457 36103457 + Nonsense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:36103457C>G ENST00000378660.1 + 5 631 c.443C>G c.(442-444)tCa>tGa p.S148* CHDC2_ENST00000313548.4_Nonsense_Mutation_p.S148* calponin homology domain containing 2 CAATTCTACTCATCAACCTCG 0.328000 21 23 0 0 0.049695 0 0 MYRF 745 broad.mit.edu 37 11 61544844 61544844 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:61544844C>A ENST00000278836.5 + 12 1795 c.1699C>A c.(1699-1701)Ccg>Acg p.P567T MYRF_ENST00000265460.5_Missense_Mutation_p.P558T|MYRF_ENST00000327797.1_Missense_Mutation_p.P192T|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor CACAGACCGGCCGGATGAGGC 0.657000 8 10 0.000442599 0.000506046 0.058154 1 0 ZBTB40 9923 broad.mit.edu 37 1 22837825 22837825 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:22837825G>T ENST00000404138.1 + 11 2498 c.1987G>T c.(1987-1989)Gag>Tag p.E663* ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.E551*|ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.E663* NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 663 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGTCATGCAGGAGTTGGCATA 0.502000 15 38 3.27435e-08 4.60217e-08 0.119110 1 0 CASR 846 broad.mit.edu 37 3 122002778 122002778 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:122002778C>T ENST00000498619.1 + 7 2445 c.2007C>T c.(2005-2007)ctC>ctT p.L669L CASR_ENST00000490131.1_Silent_p.L659L|CASR_ENST00000296154.5_Silent_p.L659L NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 659 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCTCCCTGCTCTGCTGCTTCT 0.592000 8 87 0 0 0.058154 0 0 OR2T4 127074 broad.mit.edu 37 1 248525230 248525230 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:248525230C>G ENST00000366475.1 + 1 348 c.348C>G c.(346-348)gaC>gaG p.D116E NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) TGCTCCTGGACCAGGTCATGG 0.498000 28 210 0 0 0.045705 0 0 DST 667 broad.mit.edu 37 6 56391248 56391248 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:56391248C>A ENST00000370754.5 - 69 17946 c.17947G>T c.(17947-17949)Gct>Tct p.A5983S DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.A5479S|DST_ENST00000421834.2_Missense_Mutation_p.A3717S|DST_ENST00000361203.3_Missense_Mutation_p.A5694S|DST_ENST00000370769.4_Missense_Mutation_p.A5805S|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A3391S|DST_ENST00000370788.2_Missense_Mutation_p.A3608S Q03001 DYST_HUMAN dystonin 5803 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGTCCTCAGCTACCATTTTC 0.488000 21 118 2.89027e-11 4.58839e-11 0.069288 1 0 TMEM194A 23306 broad.mit.edu 37 12 57458497 57458497 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:57458497C>T ENST00000300128.4 - 5 594 c.571G>A c.(571-573)Ggg>Agg p.G191R TMEM194A_ENST00000379391.3_Missense_Mutation_p.G118R NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 191 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ACAGTCATCCCAGTAGAGTAG 0.343000 48 75 0 0 0.139131 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457535 66457535 + RNA SNP T T C rs74360065 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:66457535T>C ENST00000424345.1 + 0 67 TGTTTGCTTCTTTCTGTCTCC 0.562000 3 37 0 0 0.115264 0 0 KRT34 3885 broad.mit.edu 37 17 39538334 39538334 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:39538334G>T ENST00000394001.1 - 1 321 c.291C>A c.(289-291)agC>agA p.S97R NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 97 Head. epidermis development intermediate filament protein binding|structural molecule activity p.S97S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TCTCCTTCTCGCTGCCATTGA 0.617000 24 90 1.77063e-15 3.14252e-15 0.108266 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554515 20554515 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:20554515C>A ENST00000329697.6 - 11 1519 c.1351G>T c.(1351-1353)Gat>Tat p.D451Y ACSM2B_ENST00000565232.1_Missense_Mutation_p.D451Y|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D372Y|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D451Y NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 451 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCATCTTCATCTTTGATTCCC 0.488000 32 244 5.8336e-16 1.04374e-15 0.059317 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103018511 103018511 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:103018511G>C ENST00000375735.2 + 19 2857 c.2713G>C c.(2713-2715)Gta>Cta p.V905L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V905L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 905 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGCTGTCAAGGTAGATTGTTT 0.308000 7 33 0 0 0.029380 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 13 0.000274275 0.000315226 0.047766 1 0 KRT31 3881 broad.mit.edu 37 17 39550416 39550416 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:39550416G>A ENST00000251645.2 - 7 1155 c.1103C>T c.(1102-1104)cCc>cTc p.P368L NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 368 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GGGATTGCTGGGCAGACTGGA 0.527000 7 40 0 0 0.029380 0 0 ANO4 121601 broad.mit.edu 37 12 101504194 101504194 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:101504194G>A ENST00000392979.3 + 22 2418 c.2057G>A c.(2056-2058)gGa>gAa p.G686E ANO4_ENST00000299222.9_Missense_Mutation_p.G241E|ANO4_ENST00000392977.3_Missense_Mutation_p.G721E|ANO4_ENST00000550015.1_Missense_Mutation_p.G241E NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 721 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTTCAGTTTGGATTCACAACT 0.343000 HNSCC(74;0.22) 11 28 0 0 0.049695 0 0 EDIL3 10085 broad.mit.edu 37 5 83525686 83525686 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:83525686T>A ENST00000296591.5 - 3 631 c.213A>T c.(211-213)gaA>gaT p.E71D EDIL3_ENST00000380138.3_Intron NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 71 cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) CTGAAGTTGGTTCTTCTTCAT 0.373000 12 30 0 0 0.093190 0 0 ZNF384 171017 broad.mit.edu 37 12 6788225 6788225 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:6788225C>A ENST00000396795.1 - 3 688 c.191G>T c.(190-192)gGc>gTc p.G64V ZNF384_ENST00000396801.3_Missense_Mutation_p.G64V|ZNF384_ENST00000361959.3_Missense_Mutation_p.G64V|ZNF384_ENST00000355772.4_Missense_Mutation_p.G64V|ZNF384_ENST00000319770.3_Missense_Mutation_p.G64V|ZNF384_ENST00000396799.2_Missense_Mutation_p.G64V Q8TF68 ZN384_HUMAN zinc finger protein 384 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 CATACTGATGCCTGAGGGCAG 0.582000 T """EWSR1, TAF15 """ ALL 38 122 3.09479e-21 5.9384e-21 0.092188 1 0 SNAP25 6616 broad.mit.edu 37 20 10279989 10279989 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:10279989C>A ENST00000254976.2 + 7 692 c.481C>A c.(481-483)Cgt>Agt p.R161S SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R161S|SNAP25-AS1_ENST00000421143.2_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 161 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) CGGGAACCTCCGTCACATGGC 0.498000 16 122 1.52009e-12 2.49084e-12 0.132662 1 0 FOLR4 390243 broad.mit.edu 37 11 94040590 94040590 + Splice_Site SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:94040590G>A ENST00000440961.2 + 4 508 c.463_splice c.e4-1 p.G155_splice NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 162 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 TCCCCTGCAGGGAAGAACCGC 0.592000 16 68 0 0 0.132662 0 0 ELF1 1997 broad.mit.edu 37 13 41507924 41507924 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:41507924C>G ENST00000239882.3 - 9 1811 c.1497G>C c.(1495-1497)ttG>ttC p.L499F ELF1_ENST00000442101.1_Missense_Mutation_p.L475F|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 499 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) GGGCAGGGCCCAAGACAATTG 0.488000 23 76 0 0 0.076483 0 0 C4orf50 389197 broad.mit.edu 37 4 5975502 5975502 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:5975502C>A ENST00000531445.1 - 4 1760 c.1714G>T c.(1714-1716)Gag>Tag p.E572* C4orf50_ENST00000324058.5_Nonsense_Mutation_p.E98* Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 98 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CTGTGCAGCTCCTGCAGCAGG 0.632000 9 30 3.86212e-05 4.65705e-05 0.069234 1 0 COL4A5 1287 broad.mit.edu 37 X 107802318 107802318 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:107802318G>T ENST00000328300.6 + 3 410 c.166G>T c.(166-168)Gaa>Taa p.E56* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E56* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 56 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCAGGTTTGGAAGGACACCC 0.473000 Alport syndrome with Diffuse Leiomyomatosis 10 34 0.000673444 0.00076339 0.069234 1 0 DENND1B 163486 broad.mit.edu 37 1 197704716 197704716 + Splice_Site SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:197704716T>A ENST00000235453.4 - 3 329 c.52_splice c.e3+1 p.N18_splice DENND1B_ENST00000400967.2_Splice_Site_p.N18_splice|DENND1B_ENST00000367396.3_Intron Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 28 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AGGGTATTACTCGAAAATACA 0.423000 14 28 0 0 0.146539 0 0 EPHB3 2049 broad.mit.edu 37 3 184295235 184295235 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:184295235G>T ENST00000330394.2 + 6 1911 c.1459G>T c.(1459-1461)Gag>Tag p.E487* EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 487 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CCTGGACTACGAGATGAAGTA 0.597000 9 30 0.00621372 0.00673237 0.058154 1 0 HEPACAM2 253012 broad.mit.edu 37 7 92848713 92848713 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:92848713A>G ENST00000394468.2 - 2 208 c.131T>C c.(130-132)gTc>gCc p.V44A HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V32A|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.V67A|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.V32A NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 44 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CTGACCTCTGACGCCATGGAC 0.527000 14 91 0 0 0.033300 0 0 FAT1 2195 broad.mit.edu 37 4 187542290 187542290 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:187542290T>C ENST00000441802.2 - 10 5659 c.5450A>G c.(5449-5451)cAc>cGc p.H1817R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1817 Cadherin 16. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AAAATATGTGTGTACAGATGG 0.393000 HNSCC(5;0.00058) 7 35 0 0 0.047766 0 0 KCNU1 157855 broad.mit.edu 37 8 36691147 36691147 + Silent SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:36691147A>C ENST00000399881.3 + 11 1219 c.1182A>C c.(1180-1182)gcA>gcC p.A394A NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 394 RCK N-terminal. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGGATCTGCAATGAAGTGGG 0.398000 16 55 0 0 0.038395 0 0 KRT33B 3884 broad.mit.edu 37 17 39521463 39521463 + Silent SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:39521463A>G ENST00000251646.3 - 5 889 c.840T>C c.(838-840)aaT>aaC p.N280N NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 280 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TCTCCAGGGCATTGACTGTGC 0.587000 7 171 0 0 0.146539 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 4 386 0 0 0.029380 0 0 TRIM51 84767 broad.mit.edu 37 11 55653182 55653182 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55653182G>T ENST00000449290.2 + 2 370 c.278G>T c.(277-279)tGt>tTt p.C93F NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 93 intracellular zinc ion binding GAGCAAATATGTGGGATGCAC 0.488000 7 19 8.12818e-05 9.66043e-05 0.029380 1 0 AOX1 316 broad.mit.edu 37 2 201499527 201499527 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:201499527G>T ENST00000374700.2 + 21 2476 c.2235G>T c.(2233-2235)atG>atT p.M745I AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 745 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAATACATATGGGAGGTCAAG 0.428000 3 34 0.115264 0.119226 0.115264 1 0 PPP1R17 10842 broad.mit.edu 37 7 31735162 31735162 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:31735162G>A ENST00000342032.3 + 3 790 c.162G>A c.(160-162)ctG>ctA p.L54L PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 54 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction AGGCCACCCTGAATGTTGAGT 0.423000 61 213 0 0 0.139131 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717114 222717114 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:222717114C>A ENST00000343410.6 - 2 797 c.739G>T c.(739-741)Gat>Tat p.D247Y NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 247 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CGACTCCCATCAGGGAGGTAG 0.592000 10 58 2.52707e-12 4.11037e-12 0.058154 1 0 TMEM200A 114801 broad.mit.edu 37 6 130761629 130761629 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:130761629G>C ENST00000392429.1 + 2 2440 c.62G>C c.(61-63)aGa>aCa p.R21T TMEM200A_ENST00000296978.3_Missense_Mutation_p.R21T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R21T NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 21 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GACTCTGCCAGATCACAGCAG 0.522000 40 133 0 0 0.139131 0 0 PRDM9 56979 broad.mit.edu 37 5 23522908 23522908 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:23522908G>T ENST00000296682.3 + 8 978 c.796G>T c.(796-798)Gat>Tat p.D266Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 266 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.D266N(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGAGGCATCTGATCTGCCGCT 0.582000 HNSCC(3;0.000094) 6 44 0.0215528 0.0227559 0.021553 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232564191 232564191 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:232564191G>A ENST00000366630.1 - 16 4734 c.4376C>T c.(4375-4377)cCt>cTt p.P1459L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1459L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P533L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1459 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGGGCTGTCAGGAAGCATCAA 0.413000 19 33 0 0 0.055883 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895294 42895294 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:42895294G>T ENST00000399770.2 + 1 11 c.11G>T c.(10-12)aGg>aTg p.R4M NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 4 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 ATGCTTAAAAGGGAGATGAAG 0.498000 5 47 3.09899e-07 4.13615e-07 0.047766 1 0 ELMOD1 55531 broad.mit.edu 37 11 107506376 107506376 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:107506376T>A ENST00000265840.7 + 6 570 c.305T>A c.(304-306)cTt>cAt p.L102H ELMOD1_ENST00000443271.2_Missense_Mutation_p.L102H|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L96H NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 102 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) GGAATCTCTCTTCAGGCTTGC 0.438000 19 80 0 0 0.091800 0 0 MMRN1 22915 broad.mit.edu 37 4 90872775 90872775 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:90872775T>A ENST00000394980.1 + 8 3457 c.3138T>A c.(3136-3138)agT>agA p.S1046R MMRN1_ENST00000508372.1_Missense_Mutation_p.S788R|MMRN1_ENST00000264790.2_Missense_Mutation_p.S1046R|MMRN1_ENST00000394981.1_Missense_Mutation_p.S349R Q13201 MMRN1_HUMAN multimerin 1 1046 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAAGCTGTAGTCGGCATCCGT 0.433000 11 35 0 0 0.105934 0 0 RIMS2 9699 broad.mit.edu 37 8 105001565 105001565 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:105001565G>T ENST00000507740.1 + 14 2572 c.2336G>T c.(2335-2337)cGc>cTc p.R779L RIMS2_ENST00000436393.2_Missense_Mutation_p.R765L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R826L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R987L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1049 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CGAGGGACCCGCACTATGACC 0.378000 HNSCC(12;0.0054) 16 56 1.67942e-08 2.42216e-08 0.038395 1 0 MLLT10 8028 broad.mit.edu 37 10 21959419 21959419 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:21959419G>A ENST00000377072.3 + 10 1185 c.837G>A c.(835-837)ttG>ttA p.L279L MLLT10_ENST00000307729.7_Silent_p.L279L|MLLT10_ENST00000377059.3_Silent_p.L279L|MLLT10_ENST00000446906.2_Silent_p.L279L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 279 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CTGGATCATTGAAGCGCTTGG 0.368000 T """MLL, PICALM, CDK6""" AL 6 35 0 0 0.038147 0 0 MYOM1 8736 broad.mit.edu 37 18 3168821 3168821 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:3168821T>C ENST00000356443.4 - 9 1666 c.1333A>G c.(1333-1335)Aga>Gga p.R445G MYOM1_ENST00000261606.7_Missense_Mutation_p.R445G|MYOM1_ENST00000400569.3_Missense_Mutation_p.R445G NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 445 Ig-like C2-type 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCACCGTTTCTGTACCACTGG 0.443000 17 26 0 0 0.062417 0 0 CSMD3 114788 broad.mit.edu 37 8 113529289 113529289 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:113529289C>A ENST00000297405.5 - 28 4974 c.4730G>T c.(4729-4731)tGg>tTg p.W1577L CSMD3_ENST00000455883.2_Missense_Mutation_p.W1473L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W1537L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1577L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1577 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCTGGGCTGCCAGAAGTACCG 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 65 5.03518e-11 7.95535e-11 0.043863 1 0 ASIP 434 broad.mit.edu 37 20 32848270 32848270 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:32848270C>A ENST00000568305.1 + 2 292 c.90C>A c.(88-90)ctC>ctA p.L30L RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L30L P42127 ASIP_HUMAN agouti signaling protein 30 cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway extracellular space central_nervous_system(1)|lung(2) 3 AGGAGAAGCTCCGAGATGACA 0.582000 21 61 2.98393e-07 4.01496e-07 0.076483 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863034 10863034 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:10863034G>T ENST00000559480.1 + 0 330 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CTGAGGACACGGCCATGTATT 0.502000 18 255 1.78486e-19 3.35676e-19 0.043863 1 0 TXNDC16 57544 broad.mit.edu 37 14 53010265 53010265 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:53010265C>G ENST00000281741.4 - 3 382 c.11G>C c.(10-12)gGc>gCc p.G4A TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 4 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GACATTGAAGCCGGAAAACAT 0.388000 9 40 0 0 0.047766 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061716 103061716 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:103061716G>T ENST00000264260.2 + 9 1577 c.988G>T c.(988-990)Gat>Tat p.D330Y IL18RAP_ENST00000409369.1_Missense_Mutation_p.D188Y NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 330 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CACTCAGCGTGATCTTCGCAG 0.408000 15 50 7.93312e-07 1.03789e-06 0.119110 1 0 RB1 5925 broad.mit.edu 37 13 49039354 49039354 + Nonsense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:49039354C>G ENST00000267163.4 + 23 2477 c.2339C>G c.(2338-2340)tCa>tGa p.S780* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 780 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTACCTTGTCACCAATACCT 0.388000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 28 128 0 0 0.054565 0 0 HNF4G 3174 broad.mit.edu 37 8 76472657 76472657 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:76472657T>C ENST00000396423.2 + 9 1296 c.1172T>C c.(1171-1173)aTa>aCa p.I391T HNF4G_ENST00000354370.1_Missense_Mutation_p.I354T NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 354 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GGACAAACTATACTTTTAGGT 0.378000 7 47 0 0 0.038147 0 0 ADRA1B 147 broad.mit.edu 37 5 159344556 159344556 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:159344556C>T ENST00000306675.3 + 1 767 c.644C>T c.(643-645)cCt>cTt p.P215L NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 215 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TTCTACATCCCTCTGGCGGTC 0.547000 17 73 0 0 0.043863 0 0 SNHG14 104472715 broad.mit.edu 37 15 25485057 25485057 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:25485057G>T ENST00000453082.2 + 0 1979 SNORD115-38_ENST00000365037.1_RNA NR_003343.1 ATAGGATTACGCTGAGGCCCA 0.507000 20 59 7.41877e-09 1.08177e-08 0.062417 1 0 COL24A1 255631 broad.mit.edu 37 1 86377088 86377088 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:86377088C>A ENST00000370571.2 - 25 2957 c.2591G>T c.(2590-2592)gGg>gTg p.G864V COL24A1_ENST00000436319.1_Missense_Mutation_p.G864V NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 864 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCAGTCATCCCAACTTCTCC 0.338000 13 62 4.3838e-07 5.81578e-07 0.105934 1 0 SPTBN4 57731 broad.mit.edu 37 19 41012243 41012243 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:41012243A>T ENST00000352632.3 + 13 1852 c.1766A>T c.(1765-1767)gAg>gTg p.E589V SPTBN4_ENST00000598249.1_Missense_Mutation_p.E589V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E589V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E589V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E589V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 589 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCCAGAGCGAGCGGGTGGAG 0.657000 15 41 0 0 0.146539 0 0 SPINK5 11005 broad.mit.edu 37 5 147481425 147481425 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:147481425G>A ENST00000359874.3 + 15 1457 c.1384G>A c.(1384-1386)Gat>Aat p.D462N SPINK5_ENST00000398454.1_Missense_Mutation_p.D462N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D462N NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 462 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGGCCCAGATGGAAAAAT 0.502000 18 55 0 0 0.069288 0 0 PIAS2 9063 broad.mit.edu 37 18 44416467 44416467 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:44416467C>A ENST00000585916.1 - 9 1054 c.1055G>T c.(1054-1056)aGg>aTg p.R352M PIAS2_ENST00000324794.7_Missense_Mutation_p.R352M|PIAS2_ENST00000545673.1_Missense_Mutation_p.R62M NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 352 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 GATTGTCAGCCTCATTTTTCC 0.433000 17 87 1.01871e-10 1.57567e-10 0.049695 1 0 KLRK1 22914 broad.mit.edu 37 12 10532362 10532362 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:10532362C>T ENST00000240618.6 - 4 318 c.178G>A c.(178-180)Gct>Act p.A60T RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.A60T|KLRC4-KLRK1_ENST00000539300.1_3'UTR NM_001199805.1|NM_007360.3 NP_001186734.1|NP_031386.2 P26718 NKG2D_HUMAN killer cell lectin-like receptor subfamily K, member 1 60 natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 ATGGCTACAGCGATGAAGCAG 0.353000 3 51 0 0 0.115264 0 0 KIF20A 10112 broad.mit.edu 37 5 137521276 137521276 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:137521276T>G ENST00000394894.3 + 16 2228 c.2002T>G c.(2002-2004)Tca>Gca p.S668A KIF20A_ENST00000508792.1_Missense_Mutation_p.S650A NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 668 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCATCAGCAATCAGGGTCTGA 0.517000 23 58 0 0 0.069456 0 0 F2RL2 2151 broad.mit.edu 37 5 75914185 75914185 + Missense_Mutation SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:75914185A>C ENST00000296641.4 - 2 550 c.347T>G c.(346-348)cTg>cGg p.L116R IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L94R|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 116 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AAGCATCCACAGGGTCACAGC 0.473000 19 56 0 0 0.055883 0 0 TMEM130 222865 broad.mit.edu 37 7 98449144 98449144 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:98449144G>T ENST00000450876.1 - 6 1969 c.654C>A c.(652-654)acC>acA p.T218T TMEM130_ENST00000339375.4_Silent_p.T302T|TMEM130_ENST00000416379.2_Silent_p.T302T|TMEM130_ENST00000546258.1_Silent_p.T283T|TMEM130_ENST00000345589.4_Silent_p.T200T Q8N3G9 TM130_HUMAN transmembrane protein 130 302 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGAAGGTGTGGGTCAGGTTGT 0.602000 8 47 5.18039e-06 6.59504e-06 0.038147 1 0 SSPO 23145 broad.mit.edu 37 7 149489266 149489266 + RNA SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:149489266C>G ENST00000378016.2 + 0 5511 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGTCACGTGCCCACCTGATT 0.662000 4 3 0 0 0.009096 0 0 C2orf16 84226 broad.mit.edu 37 2 27804470 27804470 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:27804470C>T ENST00000408964.2 + 1 5082 c.5031C>T c.(5029-5031)agC>agT p.S1677S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1677 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCAGAGGAGCCATCGCGGTC 0.567000 26 112 0 0 0.091800 0 0 CAPN3 825 broad.mit.edu 37 15 42652037 42652037 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:42652037A>G ENST00000397163.3 + 1 253 c.34A>G c.(34-36)Agg>Ggg p.R12G RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R12G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R12G|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.R12G NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 12 muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TGTGGCTCCAAGGACAGCGGC 0.547000 15 43 0 0 0.049695 0 0 LRP1B 53353 broad.mit.edu 37 2 141625180 141625180 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:141625180G>T ENST00000389484.3 - 27 5529 c.4558C>A c.(4558-4560)Cat>Aat p.H1520N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1520 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGACTGGGATGGTATATCTGA 0.408000 TSP Lung(27;0.18) 8 43 0.000274275 0.000315226 0.047766 1 0 ACPL2 92370 broad.mit.edu 37 3 141011154 141011154 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:141011154T>A ENST00000508812.1 + 5 2430 c.523T>A c.(523-525)Tat>Aat p.Y175N ACPL2_ENST00000504264.1_Missense_Mutation_p.Y167N|ACPL2_ENST00000502783.1_Missense_Mutation_p.Y146N|ACPL2_ENST00000286353.4_Missense_Mutation_p.Y184N|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.Y184N|ACPL2_ENST00000393007.1_Missense_Mutation_p.Y168N Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 184 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GAGGGATATCTATCTAAAGAA 0.478000 58 133 0 0 0.139131 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777820 110777820 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:110777820A>T ENST00000368919.3 - 2 520 c.454T>A c.(454-456)Tgg>Agg p.W152R SLC22A16_ENST00000439654.1_Missense_Mutation_p.W152R|SLC22A16_ENST00000456137.2_Missense_Mutation_p.W152R|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W118R|SLC22A16_ENST00000461487.1_5'UTR NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 152 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ATTGCAAGCCATTTTCGGTCA 0.443000 20 50 0 0 0.043863 0 0 TMEM47 83604 broad.mit.edu 37 X 34657371 34657371 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:34657371A>T ENST00000275954.3 - 2 618 c.360T>A c.(358-360)ttT>ttA p.F120L NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 120 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TACCTGCTGCAAAAAGCATGA 0.433000 4 6 0 0 0.014758 0 0 CACNG3 10368 broad.mit.edu 37 16 24372937 24372937 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:24372937G>A ENST00000005284.3 + 4 1903 c.701G>A c.(700-702)cGg>cAg p.R234Q NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 234 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TTCCGGAGGCGGTCAAGTTCT 0.542000 22 79 0 0 0.062417 0 0 TRAV24 28659 broad.mit.edu 37 14 22573895 22573895 + RNA SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:22573895G>C ENST00000390453.1 + 0 115 TCAGGAGGGAGACAGCACCAA 0.448000 5 19 0 0 0.029380 0 0 NBAS 51594 broad.mit.edu 37 2 15432849 15432849 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:15432849C>A ENST00000281513.5 - 41 4864 c.4839G>T c.(4837-4839)gtG>gtT p.V1613V NBAS_ENST00000441750.1_Silent_p.V1493V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1613 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CATGTCGAGTCACATGCCTGG 0.453000 13 31 4.75885e-15 8.33428e-15 0.033300 1 0 UNC79 57578 broad.mit.edu 37 14 94007178 94007178 + Splice_Site SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:94007178G>C ENST00000553484.1 + 13 1678 c.e13+1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGGTTCTTAGTAAGAAAAAG 0.363000 7 34 0 0 0.038147 0 0 MTUS1 57509 broad.mit.edu 37 8 17542025 17542025 + Nonsense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:17542025G>A ENST00000381869.3 - 6 2961 c.2488C>T c.(2488-2490)Cga>Tga p.R830* MTUS1_ENST00000262102.6_Nonsense_Mutation_p.R884*|MTUS1_ENST00000381861.3_Nonsense_Mutation_p.R131*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.R830*|MTUS1_ENST00000297488.6_Nonsense_Mutation_p.R50*|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000544260.1_Nonsense_Mutation_p.R29* NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 884 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CATAAGCTTCGAGGATTCTTT 0.398000 40 74 0 0 0.098360 0 0 IARS 3376 broad.mit.edu 37 9 95007245 95007245 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:95007245G>A ENST00000375643.3 - 27 3166 c.2900C>T c.(2899-2901)gCt>gTt p.A967V IARS_ENST00000375627.1_Missense_Mutation_p.A20V|IARS_ENST00000443024.2_Missense_Mutation_p.A967V|IARS_ENST00000375629.3_Missense_Mutation_p.A20V|IARS_ENST00000447699.2_Missense_Mutation_p.A857V NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 967 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AAATACCTGAGCATCTGAGTG 0.448000 5 27 0 0 0.021553 0 0 TCP10 6953 broad.mit.edu 37 6 167791570 167791570 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:167791570G>T ENST00000366827.2 - 4 501 c.290C>A c.(289-291)cCt>cAt p.P97H TCP10_ENST00000397829.4_Missense_Mutation_p.P97H Q12799 TCP10_HUMAN t-complex 10 124 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCCAAAAGCAGGTTCCAATGC 0.388000 7 36 1.26484e-09 1.89441e-09 0.038147 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113658766 113658766 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:113658766G>A ENST00000358160.4 + 16 2217 c.1725G>A c.(1723-1725)ctG>ctA p.L575L GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Silent_p.L408L|GRAMD1C_ENST00000440446.2_Silent_p.L370L|GRAMD1C_ENST00000452134.2_Silent_p.L304L NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 575 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 ATGTGACACTGTTTCTGAAGC 0.388000 17 78 0 0 0.049695 0 0 CCDC39 339829 broad.mit.edu 37 3 180366106 180366106 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:180366106A>T ENST00000273654.4 - 16 2080 c.1461T>A c.(1459-1461)ttT>ttA p.F487L CCDC39_ENST00000442201.2_Missense_Mutation_p.F403L Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 403 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton 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) GAGCTTTCTTAAACAGCACAC 0.323000 43 73 0 0 0.139131 0 0 RNF128 79589 broad.mit.edu 37 X 106016175 106016175 + Missense_Mutation SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:106016175A>C ENST00000255499.2 + 2 767 c.517A>C c.(517-519)Aat>Cat p.N173H RNF128_ENST00000324342.3_Missense_Mutation_p.N147H NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 173 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CATGATCGGCAATCTGAAAGG 0.353000 30 79 0 0 0.045705 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42158947 42158947 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:42158947G>T ENST00000444063.1 + 7 942 c.810G>T c.(808-810)ctG>ctT p.L270L L3MBTL1_ENST00000427442.2_Silent_p.L338L|L3MBTL1_ENST00000373135.3_Silent_p.L270L|L3MBTL1_ENST00000373134.1_Silent_p.L270L|L3MBTL1_ENST00000418998.1_Silent_p.L338L Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 270 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GCCTACGCCTGCACTTTGATG 0.582000 16 117 1.01871e-10 1.57567e-10 0.049695 1 0 FCRL3 115352 broad.mit.edu 37 1 157666024 157666024 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:157666024T>A ENST00000368184.3 - 7 1229 c.938A>T c.(937-939)cAg>cTg p.Q313L RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.Q313L NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 313 Ig-like C2-type 4. 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) CCCTGAACCCTGGGCTACTGA 0.527000 62 145 0 0 0.139131 0 0 ATP11C 286410 broad.mit.edu 37 X 138864752 138864752 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:138864752T>C ENST00000370557.1 - 18 2933 c.1906A>G c.(1906-1908)Att>Gtt p.I636V ATP11C_ENST00000359686.2_Missense_Mutation_p.I639V|ATP11C_ENST00000370543.1_Missense_Mutation_p.I639V|ATP11C_ENST00000361648.2_Missense_Mutation_p.I639V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.I639V Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 639 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TTTGTCTCAATATCATCGAAA 0.333000 13 20 0 0 0.119110 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810506 140810506 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:140810506G>T ENST00000252085.3 + 1 322 c.180G>T c.(178-180)gcG>gcT p.A60A PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCTCGCGGAGCGCGGAG 0.652000 21 28 4.35082e-09 6.45794e-09 0.055883 1 0 TP53 7157 broad.mit.edu 37 17 7578205 7578205 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:7578205C>A ENST00000420246.2 - 6 776 c.644G>T c.(643-645)aGt>aTt p.S215I TP53_ENST00000445888.2_Missense_Mutation_p.S215I|TP53_ENST00000455263.2_Missense_Mutation_p.S215I|TP53_ENST00000359597.4_Missense_Mutation_p.S215I|TP53_ENST00000413465.2_Missense_Mutation_p.S215I|TP53_ENST00000269305.4_Missense_Mutation_p.S215I|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 215 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S215I(18)|p.S215N(9)|p.0?(8)|p.?(5)|p.S215T(3)|p.S215fs*32(3)|p.H214fs*5(2)|p.S122N(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.S215_V218>M(1)|p.R209fs*6(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) CACCACCACACTATGTCGAAA 0.537000 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) 8 28 4.68919e-08 6.53525e-08 0.069234 1 0 FGG 2266 broad.mit.edu 37 4 155528068 155528068 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:155528068G>A ENST00000404648.3 - 8 1157 c.918C>T c.(916-918)taC>taT p.Y306Y FGG_ENST00000336098.3_Silent_p.Y306Y|FGG_ENST00000405164.1_Silent_p.Y314Y|FGG_ENST00000407946.1_Silent_p.Y314Y NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 306 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) CACCAGCGAAGTAGGCATATG 0.463000 33 107 0 0 0.064281 0 0 KNDC1 85442 broad.mit.edu 37 10 135027499 135027499 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:135027499C>A ENST00000304613.3 + 26 4571 c.4550C>A c.(4549-4551)tCg>tAg p.S1517* KNDC1_ENST00000368572.2_Nonsense_Mutation_p.S1519* Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1517 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGTCTCTTTCGGCCAAAACC 0.552000 8 23 0.00621372 0.00673237 0.058154 1 0 PAK3 5063 broad.mit.edu 37 X 110406155 110406155 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:110406155G>T ENST00000519681.1 + 10 986 c.544G>T c.(544-546)Gca>Tca p.A182S PAK3_ENST00000372010.1_Missense_Mutation_p.A176S|PAK3_ENST00000417227.1_Missense_Mutation_p.A182S|PAK3_ENST00000360648.4_Missense_Mutation_p.A197S|PAK3_ENST00000372007.4_Missense_Mutation_p.A161S|PAK3_ENST00000518291.1_Missense_Mutation_p.A197S|PAK3_ENST00000262836.4_Missense_Mutation_p.A176S|PAK3_ENST00000446737.1_Missense_Mutation_p.A161S|PAK3_ENST00000425146.1_Missense_Mutation_p.A161S O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 176 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TACAAAAACAGCATCTGAGCC 0.378000 TSP Lung(19;0.15) 35 106 4.65686e-17 8.49268e-17 0.064281 1 0 MAP1B 4131 broad.mit.edu 37 5 71492142 71492142 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:71492142G>A ENST00000296755.7 + 5 3258 c.2960G>A c.(2959-2961)aGg>aAg p.R987K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 987 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GCATACATCAGGGAGAAGAGG 0.562000 21 123 0 0 0.091800 0 0 SLC20A1 6574 broad.mit.edu 37 2 113417209 113417209 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:113417209A>G ENST00000272542.3 + 8 2016 c.1477A>G c.(1477-1479)Aga>Gga p.R493G NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 493 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TCTAGGTGACAGAAAAGGAAG 0.473000 31 148 0 0 0.144211 0 0 OR2D2 120776 broad.mit.edu 37 11 6913634 6913634 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:6913634C>A ENST00000299459.2 - 1 196 c.98G>T c.(97-99)gGt>gTt p.G33V NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGTAGACACCCAATAATAC 0.443000 19 55 2.98393e-07 4.01496e-07 0.076483 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886052 88886052 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:88886052G>A ENST00000319675.3 - 1 244 c.148C>T c.(148-150)Cgt>Tgt p.R50C NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 50 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAGCTTACACGCAGCTCGCGA 0.502000 14 48 0 0 0.132662 0 0 SZT2 23334 broad.mit.edu 37 1 43897569 43897569 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:43897569G>T ENST00000562955.1 + 35 5100 c.5100G>T c.(5098-5100)aaG>aaT p.K1700N SZT2_ENST00000372442.1_Missense_Mutation_p.K858N NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1757 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CACAATTCAAGGAGGTAAGTT 0.567000 10 57 0.00185496 0.00206384 0.105934 1 0 TEX15 56154 broad.mit.edu 37 8 30704309 30704309 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:30704309C>G ENST00000256246.2 - 1 2299 c.2225G>C c.(2224-2226)aGt>aCt p.S742T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 742 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATGCTGATCACTATTCTCCCT 0.383000 6 32 0 0 0.038147 0 0 NEBL 10529 broad.mit.edu 37 10 21147170 21147170 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:21147170C>A ENST00000377122.4 - 9 1298 c.903_splice c.e9+1 p.G301_splice NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 301 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ACCACTTACGCCGCTGAGCAT 0.443000 15 36 3.27435e-08 4.60217e-08 0.119110 1 0 NME6 10201 broad.mit.edu 37 3 48337625 48337625 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:48337625C>T ENST00000421967.1 - 4 286 c.241G>A c.(241-243)Gtg>Atg p.V81M NME6_ENST00000450160.1_Intron|NME6_ENST00000435684.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.V73M|NME6_ENST00000426689.2_Missense_Mutation_p.V73M|NME6_ENST00000426723.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.V73M|NME6_ENST00000447314.1_Missense_Mutation_p.V28M|NME6_ENST00000444069.1_Intron|NME6_ENST00000415644.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000452211.1_Missense_Mutation_p.V73M|NME6_ENST00000451657.1_Intron NM_005793.3 NP_005784.1 O75414 NDK6_HUMAN NME/NM23 nucleoside diphosphate kinase 6 73 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) ATGAACTCCACCAGCCTCTGA 0.463000 22 40 0 0 0.099896 0 0 RFX3 5991 broad.mit.edu 37 9 3270426 3270426 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:3270426C>A ENST00000382004.3 - 12 1613 c.1302G>T c.(1300-1302)ggG>ggT p.G434G RFX3_ENST00000358730.2_Silent_p.G434G|RFX3_ENST00000302303.1_Silent_p.G434G NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 434 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CCTGGTACATCCCATGGTCAC 0.433000 23 63 2.89027e-11 4.58839e-11 0.069288 1 0 C7orf63 79846 broad.mit.edu 37 7 89887465 89887465 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:89887465T>C ENST00000389297.4 + 3 485 c.234T>C c.(232-234)taT>taC p.Y78Y C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Silent_p.Y78Y|C7orf63_ENST00000316089.8_Silent_p.Y78Y NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 78 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TACAGTGTTATCAGAATGGAC 0.289000 7 31 0 0 0.058154 0 0 GPR85 54329 broad.mit.edu 37 7 112724006 112724006 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:112724006C>A ENST00000501255.2 - 3 1394 c.771G>T c.(769-771)ctG>ctT p.L257L GPR85_ENST00000424100.1_Silent_p.L257L|GPR85_ENST00000449591.1_Silent_p.L257L|GPR85_ENST00000297146.2_Silent_p.L257L NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 257 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCCTGATGCCCAGCAAGGTGG 0.493000 23 80 6.44725e-10 9.81168e-10 0.069288 1 0 CPNE6 9362 broad.mit.edu 37 14 24542767 24542767 + Silent SNP C C A rs143428110 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:24542767C>A ENST00000397016.2 + 4 539 c.228C>A c.(226-228)gcC>gcA p.A76A CPNE6_ENST00000216775.2_Silent_p.A76A|CPNE6_ENST00000537691.1_Silent_p.A131A|CPNE6_ENST00000560092.1_3'UTR O95741 CPNE6_HUMAN copine VI (neuronal) 76 C2 1. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity p.A76A(1) endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GGGTGCTGGCCCTTGAGTATT 0.592000 15 65 3.41278e-10 5.24191e-10 0.033300 1 0 SKP2 6502 broad.mit.edu 37 5 36184065 36184065 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:36184065T>C ENST00000274254.5 + 10 1459 c.1185T>C c.(1183-1185)tgT>tgC p.C395C SKP2_ENST00000274255.6_3'UTR NM_032637.3 NP_116026.1 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGTAATCTGTATTTTTGTAT 0.333000 6 129 0 0 0.047766 0 0 RYR2 6262 broad.mit.edu 37 1 237777471 237777471 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:237777471T>C ENST00000366574.2 + 37 5360 c.5043T>C c.(5041-5043)gaT>gaC p.D1681D RYR2_ENST00000542537.1_Silent_p.D1665D|RYR2_ENST00000360064.6_Silent_p.D1679D NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1681 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCATGTGGATGAACCTCAGC 0.532000 18 77 0 0 0.055883 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018831 14018831 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:14018831G>T ENST00000279593.3 - 2 521 c.312C>A c.(310-312)gaC>gaA p.D104E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 104 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) TGGCTTCCTGGTCTGTGTCAT 0.537000 37 105 2.75727e-19 5.17086e-19 0.074837 1 0 BOD1L1 259282 broad.mit.edu 37 4 13603790 13603790 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:13603790T>C ENST00000040738.5 - 10 4869 c.4734A>G c.(4732-4734)gcA>gcG p.A1578A NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1578 DNA binding CACTGGCTTCTGCACCAACAT 0.473000 7 28 0 0 0.047766 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835857 12835857 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:12835857C>A ENST00000357726.4 + 2 486 c.459C>A c.(457-459)ttC>ttA p.F153L NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 153 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCTTTGCTTCAAGAATGGGA 0.542000 17 101 5.35267e-07 7.08693e-07 0.043863 1 0 USH2A 7399 broad.mit.edu 37 1 215987217 215987217 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:215987217G>T ENST00000366943.2 - 49 9986 c.9600C>A c.(9598-9600)ccC>ccA p.P3200P USH2A_ENST00000307340.3_Silent_p.P3200P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3200 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCCAGGCTTGGGGTTATAGA 0.393000 HNSCC(13;0.011) 28 70 2.08457e-15 3.6898e-15 0.045705 1 0 OR4K15 81127 broad.mit.edu 37 14 20444116 20444116 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:20444116T>A ENST00000305051.5 + 1 514 c.439T>A c.(439-441)Tat>Aat p.Y147N NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTATGACCGTTATGTTGCTAT 0.458000 28 84 0 0 0.108266 0 0 LRP1B 53353 broad.mit.edu 37 2 141641525 141641525 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:141641525A>T ENST00000389484.3 - 25 5001 c.4030T>A c.(4030-4032)Tgg>Agg p.W1344R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1344 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTGCTATCCAGTCGACTGTC 0.478000 TSP Lung(27;0.18) 11 37 0 0 0.119110 0 0 OR4C16 219428 broad.mit.edu 37 11 55340430 55340430 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55340430G>C ENST00000314634.3 + 1 827 c.827G>C c.(826-828)gGa>gCa p.G276A NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TATACAGTTGGAACATCTTTT 0.388000 16 37 0 0 0.033300 0 0 ASIC2 40 broad.mit.edu 37 17 31438993 31438993 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:31438993C>A ENST00000225823.2 - 2 1673 c.801G>T c.(799-801)ggG>ggT p.G267G ASIC2_ENST00000359872.6_Silent_p.G216G|ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 216 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGATCTCCAGCCCGTTGCCTG 0.557000 20 77 1.9806e-07 2.69231e-07 0.069288 1 0 MTUS2 23281 broad.mit.edu 37 13 29855903 29855903 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:29855903C>A ENST00000431530.3 + 4 2795 c.2737C>A c.(2737-2739)Ccc>Acc p.P913T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 903 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TAAGGACACACCCAAGGGGGC 0.562000 6 31 0.000274275 0.000315226 0.047766 1 0 BPIFC 254240 broad.mit.edu 37 22 32841968 32841968 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr22:32841968C>A ENST00000397452.1 - 5 500 c.390G>T c.(388-390)ggG>ggT p.G130G BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.G130G|BPIFC_ENST00000534972.1_Intron Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 130 extracellular region lipopolysaccharide binding|phospholipid binding p.G130G(1) ACAGATCAGCCCCTCCTGTGT 0.478000 9 33 4.68919e-08 6.53525e-08 0.069234 1 0 SYN2 6854 broad.mit.edu 37 3 12209921 12209921 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:12209921G>T ENST00000432424.2 + 0 1273 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TTGGCGGCCTGGACATCTGTG 0.498000 12 53 3.45872e-05 4.20895e-05 0.146539 1 0 VRK1 7443 broad.mit.edu 37 14 97304098 97304098 + Splice_Site SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:97304098G>T ENST00000216639.3 + 3 309 c.e3-1 NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) TTTTTAAACAGCTGATATGAA 0.274000 9 37 0.000673444 0.00076339 0.069234 1 0 CADM2 253559 broad.mit.edu 37 3 85984933 85984933 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:85984933G>T ENST00000383699.3 + 7 1344 c.717G>T c.(715-717)aaG>aaT p.K239N CADM2_ENST00000405615.2_Missense_Mutation_p.K232N|CADM2_ENST00000407528.2_Missense_Mutation_p.K230N NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 230 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CATCAGTTAAGATTATACCAT 0.323000 19 46 3.73194e-20 7.09926e-20 0.055883 1 0 PTHLH 5744 broad.mit.edu 37 12 28116330 28116330 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:28116330C>T ENST00000535992.1 - 3 821 c.475G>A c.(475-477)Ggg>Agg p.G159R PTHLH_ENST00000201015.4_Missense_Mutation_p.G159R|PTHLH_ENST00000545234.1_Missense_Mutation_p.G159R|PTHLH_ENST00000539239.1_Missense_Mutation_p.G159R|PTHLH_ENST00000395872.1_Missense_Mutation_p.G159R|PTHLH_ENST00000354417.3_Missense_Mutation_p.G159R|PTHLH_ENST00000395868.3_Missense_Mutation_p.G159R|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.G159R P12272 PTHR_HUMAN parathyroid hormone-like hormone 159 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) AGGTGGTCCCCTTCTAGCCCA 0.577000 59 60 0 0 0.139131 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172211 21172211 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:21172211T>A ENST00000421593.2 + 2 115 c.115T>A c.(115-117)Tac>Aac p.Y39N SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 ATTTGTAAGTTACTTTGGATC 0.338000 8 41 0 0 0.038147 0 0 CDH20 28316 broad.mit.edu 37 18 59221602 59221602 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:59221602G>T ENST00000262717.4 + 12 2478 c.2080G>T c.(2080-2082)Gcc>Tcc p.A694S CDH20_ENST00000538374.1_Missense_Mutation_p.A694S|CDH20_ENST00000536675.2_Missense_Mutation_p.A694S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 694 A -> G (in Ref. 1; AAG23739). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGCGGGGGCCGCCCCCAAGAC 0.687000 5 14 5.18039e-06 6.59504e-06 0.038147 1 0 FUT4 2526 broad.mit.edu 37 11 94278601 94278601 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:94278601G>A ENST00000358752.2 + 1 1585 c.1302G>A c.(1300-1302)ggG>ggA p.G434G RP11-867G2.8_ENST00000536540.1_RNA NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 434 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGCTCGCTGGGGCGGTGCCGG 0.632000 4 13 0 0 0.029380 0 0 C9 735 broad.mit.edu 37 5 39316033 39316033 + Silent SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:39316033A>C ENST00000263408.4 - 6 809 c.714T>G c.(712-714)gcT>gcG p.A238A C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 238 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTAGAGATATAGCTGCATTAA 0.353000 10 57 0 0 0.069234 0 0 TTN 7273 broad.mit.edu 37 2 179581898 179581898 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:179581898G>A ENST00000589042.1 - 88 25787 c.25563C>T c.(25561-25563)ggC>ggT p.G8521G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G7277G|TTN_ENST00000591111.1_Silent_p.G8204G|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8204 Ig-like 68. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCCGGCATCGCCTTTGCCTA 0.488000 4 47 0 0 0.014758 0 0 IDE 3416 broad.mit.edu 37 10 94246967 94246967 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:94246967G>A ENST00000265986.6 - 13 1698 c.1642C>T c.(1642-1644)Cct>Tct p.P548S IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 548 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATAAGAGCAGGGTATGGTGTC 0.358000 11 40 0 0 0.105934 0 0 COL6A3 1293 broad.mit.edu 37 2 238303320 238303320 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:238303320G>T ENST00000295550.4 - 3 1071 c.619C>A c.(619-621)Cat>Aat p.H207N COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.H207N|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.H207N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 207 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTATGTCATGAAGTGAGGTA 0.433000 9 22 2.17888e-05 2.68107e-05 0.058154 1 0 ZNF876P 642280 broad.mit.edu 37 4 248209 248209 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:248209G>T ENST00000356347.3 + 0 1033 NR_027481.1 TCATACTGGTGAGAAACCCTA 0.368000 11 62 3.07112e-06 3.94008e-06 0.080935 1 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14183674 14183674 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:14183674C>A ENST00000581935.1 + 0 525 lung(3) 3 TTGGCCTGTGCCAGTGGCCAT 0.378000 4 119 0.00198382 0.00218881 0.029380 1 0 ZNF98 148198 broad.mit.edu 37 19 22574465 22574465 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:22574465G>T ENST00000357774.5 - 4 1693 c.1572C>A c.(1570-1572)ggC>ggA p.G524G NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TAAAGGCTTTGCCGCATTCTT 0.383000 10 34 7.03913e-09 1.02868e-08 0.093190 1 0 NR1H3 10062 broad.mit.edu 37 11 47281993 47281993 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:47281993C>T ENST00000467728.1 + 3 1504 c.266C>T c.(265-267)gCc>gTc p.A89V NR1H3_ENST00000405853.3_Missense_Mutation_p.A89V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A89V|NR1H3_ENST00000405576.1_Missense_Mutation_p.A44V|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.A44V|NR1H3_ENST00000441012.2_Missense_Mutation_p.A89V|NR1H3_ENST00000395397.3_Missense_Mutation_p.A44V Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 89 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 AAGGGGCCAGCCCCCAAAATG 0.557000 30 94 0 0 0.144211 0 0 DCAF17 80067 broad.mit.edu 37 2 172309702 172309702 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:172309702G>T ENST00000375255.3 + 6 933 c.606G>T c.(604-606)ggG>ggT p.G202G DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Silent_p.G202G NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 202 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus p.G202G(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 CACTTGTAGGGATTCTAGAGA 0.328000 3 26 0.115264 0.119226 0.115264 1 0 TRPV6 55503 broad.mit.edu 37 7 142572354 142572354 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:142572354T>C ENST00000359396.3 - 11 1587 c.1342A>G c.(1342-1344)Agc>Ggc p.S448G NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 448 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ACCTCCCCGCTGGCACTGATG 0.597000 5 29 0 0 0.029380 0 0 SLC22A13 9390 broad.mit.edu 37 3 38316907 38316907 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:38316907G>T ENST00000311856.4 + 5 902 c.853G>T c.(853-855)Gac>Tac p.D285Y SLC22A13_ENST00000450935.2_Missense_Mutation_p.G192V NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 285 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGGGAGGATGGACGAGGCGAT 0.617000 9 27 1.76689e-08 2.52087e-08 0.058154 1 0 ASPM 259266 broad.mit.edu 37 1 197093426 197093426 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:197093426T>A ENST00000367409.4 - 13 3460 c.3204A>T c.(3202-3204)gaA>gaT p.E1068D ASPM_ENST00000294732.7_Missense_Mutation_p.E1068D|ASPM_ENST00000367408.1_Missense_Mutation_p.E318D NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1068 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AGGCAATTTCTTCCTTTAATT 0.284000 5 30 0 0 0.014758 0 0 TANK 10010 broad.mit.edu 37 2 162087711 162087711 + Silent SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:162087711A>G ENST00000392749.2 + 7 989 c.750A>G c.(748-750)ccA>ccG p.P250P AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Silent_p.P250P|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000259075.2_Silent_p.P250P NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 250 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 ATAGCACTCCAGAGAGACCCG 0.433000 15 105 0 0 0.043863 0 0 CHAT 1103 broad.mit.edu 37 10 50859935 50859935 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:50859935T>A ENST00000395562.2 + 12 1740 c.1271T>A c.(1270-1272)gTa>gAa p.V424E CHAT_ENST00000337653.2_Missense_Mutation_p.V506E|CHAT_ENST00000455728.2_Missense_Mutation_p.V388E|CHAT_ENST00000395559.2_Missense_Mutation_p.V388E|CHAT_ENST00000351556.3_Missense_Mutation_p.V388E|CHAT_ENST00000339797.1_Missense_Mutation_p.V388E NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 506 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTCAGAATAGTAAAGAACCTT 0.428000 12 27 0 0 0.093190 0 0 OR56A3 390083 broad.mit.edu 37 11 5969402 5969402 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:5969402G>T ENST00000329564.6 + 1 833 c.826G>T c.(826-828)Gtg>Ttg p.V276L NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCCCCTGATGTGCCAGTCTT 0.488000 28 98 1.75199e-13 2.92145e-13 0.125774 1 0 SRSF11 9295 broad.mit.edu 37 1 70700421 70700421 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:70700421G>T ENST00000370950.3 + 5 572 c.490G>T c.(490-492)Gat>Tat p.D164Y SRSF11_ENST00000370951.1_Missense_Mutation_p.D164Y|SRSF11_ENST00000405432.1_Missense_Mutation_p.D164Y|SRSF11_ENST00000436161.2_3'UTR|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.D104Y Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 164 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 TCCTACTCTTGATCCTGCCCT 0.423000 17 63 3.32936e-07 4.43468e-07 0.038395 1 0 LPPR4 9890 broad.mit.edu 37 1 99753626 99753626 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:99753626A>T ENST00000370185.3 + 2 825 c.328A>T c.(328-330)Atg>Ttg p.M110L LPPR4_ENST00000457765.1_Missense_Mutation_p.M110L NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 110 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) GAGTCTTAGCATGCCGTACAT 0.458000 10 76 0 0 0.080935 0 0 ARAP2 116984 broad.mit.edu 37 4 36230755 36230755 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:36230755C>T ENST00000303965.4 - 2 843 c.354G>A c.(352-354)ccG>ccA p.P118P NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 118 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTCCAACTGCGGTGGGCTAG 0.423000 8 79 0 0 0.038147 0 0 NPAS4 266743 broad.mit.edu 37 11 66192520 66192520 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:66192520C>T ENST00000311034.2 + 7 2335 c.2159C>T c.(2158-2160)cCa>cTa p.P720L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 720 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTCTCTACCCCAGATCCCAGT 0.582000 12 36 0 0 0.119110 0 0 KCNB2 9312 broad.mit.edu 37 8 73480016 73480016 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:73480016C>A ENST00000523207.1 + 2 635 c.47C>A c.(46-48)tCg>tAg p.S16* NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 16 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTTCAAGGTCGACACTTTCC 0.512000 31 186 3.90053e-15 6.86742e-15 0.050027 1 0 LCE2A 353139 broad.mit.edu 37 1 152671551 152671551 + Silent SNP C C A rs61812672 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:152671551C>A ENST00000368779.1 + 2 225 c.174C>A c.(172-174)ggC>ggA p.G58G NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 58 Cys-rich. keratinization p.C51_G64delCCGSSSGGCCSSGG(2) breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGGGGGCTGCTGCAGCT 0.677000 13 38 1.56452e-12 2.55102e-12 0.043863 1 0 HERC6 55008 broad.mit.edu 37 4 89318022 89318022 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:89318022G>T ENST00000380265.5 + 7 1090 c.907G>T c.(907-909)Gtg>Ttg p.V303L HERC6_ENST00000264346.7_Missense_Mutation_p.V303L|HERC6_ENST00000273960.3_Intron NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 303 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CCTGGCATATGTGCACACCAC 0.448000 12 47 7.03913e-09 1.02868e-08 0.093190 1 0 SPANXN3 139067 broad.mit.edu 37 X 142596806 142596806 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:142596806G>A ENST00000370503.2 - 2 347 c.264C>T c.(262-264)ggC>ggT p.G88G GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 88 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATAAGTCTACGCCTTCGTCCT 0.428000 129 392 0 0 0.139131 0 0 UBXN10 127733 broad.mit.edu 37 1 20517886 20517886 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:20517886G>T ENST00000375099.3 + 2 916 c.832G>T c.(832-834)Ggg>Tgg p.G278W NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 278 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 AGATGGGGAAGGGTGGCCCTG 0.582000 21 97 2.98393e-07 4.01496e-07 0.076483 1 0 AMY1A 276 broad.mit.edu 37 1 104203099 104203099 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:104203099T>G ENST00000370083.4 + 7 1216 c.996T>G c.(994-996)gaT>gaG p.D332E NM_001008221.1|NM_004038.3 NP_001008222.1|NP_004029.2 amylase, alpha 1A (salivary) all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) CCTTCTGGGATGCTAGGTAAA 0.383000 38 422 0 0 0.139131 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616186 13616186 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:13616186C>G ENST00000040738.5 - 4 943 c.808G>C c.(808-810)Gga>Cga p.G270R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 270 DNA binding GTTTCCAGTCCTTCACCTCCA 0.413000 11 44 0 0 0.080935 0 0 TTN 7273 broad.mit.edu 37 2 179596851 179596851 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:179596851C>T ENST00000589042.1 - 57 17069 c.16845G>A c.(16843-16845)atG>atA p.M5615I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M4371I|TTN_ENST00000591111.1_Missense_Mutation_p.M5298I|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5298 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGCCTCACACATATATTCAC 0.443000 24 126 0 0 0.083992 0 0 HOXA2 3199 broad.mit.edu 37 7 27140754 27140754 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:27140754C>A ENST00000222718.5 - 2 1032 c.722G>T c.(721-723)gGg>gTg p.G241V NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 241 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CAGAAGGGCCCCAGAGACGCT 0.527000 15 39 2.61681e-11 4.18437e-11 0.119110 1 0 KIAA1755 85449 broad.mit.edu 37 20 36868037 36868037 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:36868037C>A ENST00000279024.4 - 4 1911 c.1640G>T c.(1639-1641)gGc>gTc p.G547V NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 547 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TTCTGGGGAGCCTGCAGAAGC 0.602000 27 109 6.04164e-23 1.16946e-22 0.045705 1 0 GJA4 2701 broad.mit.edu 37 1 35260337 35260337 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:35260337C>A ENST00000342280.4 + 2 611 c.523C>A c.(523-525)Cgc>Agc p.R175S NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 175 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGGCCAGTGGCGCCTGTACGG 0.622000 5 13 0.00198382 0.00218881 0.029380 1 0 SEMA3A 10371 broad.mit.edu 37 7 83590815 83590815 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:83590815G>T ENST00000265362.3 - 17 2502 c.2188C>A c.(2188-2190)Cga>Aga p.R730R SEMA3A_ENST00000436949.1_Silent_p.R730R NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 730 Arg/Lys-rich (basic). axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CGTTGTTTTCGGTCCCTTTTC 0.468000 17 76 2.4624e-09 3.67141e-09 0.049695 1 0 CSHL1 1444 broad.mit.edu 37 17 61987959 61987959 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:61987959C>A ENST00000392824.4 - 2 397 c.336G>T c.(334-336)gtG>gtT p.V112V CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GACCAGCTCCCACTGTTACTC 0.498000 15 41 0.00244969 0.00269833 0.119110 1 0 OTUD4 54726 broad.mit.edu 37 4 146071687 146071687 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:146071687G>A ENST00000454497.2 - 13 1179 c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W OTUD4_ENST00000447906.2_Missense_Mutation_p.R413W|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 412 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAAGGTGTCCGGCTAAGATTT 0.403000 12 48 0 0 0.105934 0 0 OR10R2 343406 broad.mit.edu 37 1 158450126 158450126 + Silent SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:158450126C>G ENST00000368152.1 + 1 459 c.459C>G c.(457-459)ccC>ccG p.P153P RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGCATTACCCCACTCTTATGA 0.473000 46 95 0 0 0.139131 0 0 AXL 558 broad.mit.edu 37 19 41745210 41745210 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:41745210T>C ENST00000301178.4 + 9 1466 c.1276T>C c.(1276-1278)Tgg>Cgg p.W426R AXL_ENST00000593513.1_Missense_Mutation_p.W158R|AXL_ENST00000359092.3_Missense_Mutation_p.W426R NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 426 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CCTGGAGGCCTGGCGCCCAGG 0.597000 29 49 0 0 0.050027 0 0 KIAA1109 84162 broad.mit.edu 37 4 123264574 123264574 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:123264574G>T ENST00000264501.4 + 73 12735 c.12362G>T c.(12361-12363)gGa>gTa p.G4121V KIAA1109_ENST00000388738.3_Missense_Mutation_p.G4121V Q2LD37 K1109_HUMAN KIAA1109 4121 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGTTCATCGGGATTAGGCAGC 0.438000 13 38 7.93312e-07 1.03789e-06 0.119110 1 0 GLDC 2731 broad.mit.edu 37 9 6605162 6605162 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:6605162G>T ENST00000321612.6 - 6 980 c.830C>A c.(829-831)aCg>aAg p.T277K NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 277 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACGAGTTCCGTAAAGTCTTC 0.507000 22 99 6.21321e-17 1.12999e-16 0.076483 1 0 NOS2 4843 broad.mit.edu 37 17 26099385 26099385 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:26099385C>A ENST00000313735.6 - 14 1886 c.1653G>T c.(1651-1653)gaG>gaT p.E551D NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 551 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGGCCAGCGCCTCTGATTTTC 0.562000 5 16 2.7689e-08 3.9335e-08 0.029380 1 0 ZNF283 284349 broad.mit.edu 37 19 44352078 44352078 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:44352078G>T ENST00000324461.7 + 7 1622 c.1325G>T c.(1324-1326)cGt>cTt p.R442L ZNF283_ENST00000588797.1_Missense_Mutation_p.R303L NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) GCCTTTAGTCGTGGCTATCAC 0.398000 25 69 4.72057e-08 6.56517e-08 0.091800 1 0 LECT1 11061 broad.mit.edu 37 13 53282678 53282678 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:53282678G>T ENST00000448904.2 - 6 892 c.782C>A c.(781-783)cCt>cAt p.P261H LECT1_ENST00000377962.3_Missense_Mutation_p.P261H NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 261 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CACATGATAAGGATTATCAGG 0.493000 7 35 0.00307968 0.00338662 0.038147 1 0 EGR2 1959 broad.mit.edu 37 10 64573954 64573954 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:64573954G>A ENST00000242480.3 - 2 769 c.444C>T c.(442-444)ccC>ccT p.P148P EGR2_ENST00000411732.1_Silent_p.P98P|EGR2_ENST00000439032.1_Silent_p.P148P NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 148 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) ACACACCCAGGGGTCCTGTGG 0.617000 8 50 0 0 0.038147 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456064 84456064 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:84456064C>A ENST00000416219.2 + 8 782 c.693C>A c.(691-693)agC>agA p.S231R ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.S231R O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 231 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AAACAGACAGCCCCTTGACAG 0.587000 13 54 6.94344e-10 1.05184e-09 0.038395 1 0 ZNF761 388561 broad.mit.edu 37 19 53945337 53945337 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:53945337G>T ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CCACTGCCCTGCAAAAGCTGG 0.532000 4 11 0.00909568 0.00971184 0.009096 1 0 MTIF2 4528 broad.mit.edu 37 2 55481789 55481789 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:55481789C>A ENST00000394600.3 - 7 1240 c.e7+1 MTIF2_ENST00000263629.4_Splice_Site|MTIF2_ENST00000403721.1_Splice_Site NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TTAAGTTTTACCTTCTTACAG 0.318000 10 54 9.31168e-06 1.16749e-05 0.105934 1 0 GLG1 2734 broad.mit.edu 37 16 74530507 74530507 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:74530507C>A ENST00000422840.2 - 5 809 c.810G>T c.(808-810)ttG>ttT p.L270F GLG1_ENST00000205061.5_Missense_Mutation_p.L270F|GLG1_ENST00000447066.2_Missense_Mutation_p.L259F NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 270 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GGCCTTTCTCCAAGCATGATA 0.403000 15 104 1.15088e-07 1.57089e-07 0.146539 1 0 PTPRH 5794 broad.mit.edu 37 19 55715197 55715197 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:55715197T>C ENST00000376350.3 - 5 861 c.839A>G c.(838-840)gAg>gGg p.E280G PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 280 Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCCGTCTTTCTCCACCCACAC 0.483000 28 121 0 0 0.059317 0 0 SLC6A15 55117 broad.mit.edu 37 12 85279821 85279821 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:85279821G>C ENST00000450363.3 - 3 774 c.316C>G c.(316-318)Cta>Gta p.L106V SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.L106V|SLC6A15_ENST00000552192.1_5'UTR NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 106 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ACCATAAGTAGTATTAAATAT 0.328000 11 44 0 0 0.080935 0 0 FER 2241 broad.mit.edu 37 5 108380495 108380495 + Splice_Site SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:108380495A>T ENST00000281092.4 + 15 2212 c.1829_splice c.e15+1 p.K610_splice FER_ENST00000438717.2_Splice_Site_p.K435_splice NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 610 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ACAAGAAGCCAAGTGAGttat 0.239000 12 38 0 0 0.080935 0 0 ADD1 118 broad.mit.edu 37 4 2883767 2883767 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:2883767G>T ENST00000355842.3 + 4 1201 c.338G>T c.(337-339)gGg>gTg p.G113V ADD1_ENST00000264758.7_Missense_Mutation_p.G113V|ADD1_ENST00000503455.2_Missense_Mutation_p.G113V|ADD1_ENST00000513328.2_Missense_Mutation_p.G113V|ADD1_ENST00000446856.1_Missense_Mutation_p.G113V|ADD1_ENST00000398123.2_Missense_Mutation_p.G113V|ADD1_ENST00000398125.1_Missense_Mutation_p.G113V|ADD1_ENST00000398129.1_Missense_Mutation_p.G113V P35611 ADDA_HUMAN adducin 1 (alpha) 113 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCGCAAGGAGGGATGGCTGCC 0.418000 45 154 9.52127e-25 1.86482e-24 0.139131 1 0 AXDND1 126859 broad.mit.edu 37 1 179504097 179504097 + Splice_Site SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:179504097G>C ENST00000367618.3 + 25 3418 c.3031_splice c.e25+1 p.G1011_splice NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 1011 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TCCAAAGAAAGGTAAGGATTG 0.323000 30 57 0 0 0.045705 0 0 AHNAK 79026 broad.mit.edu 37 11 62287506 62287506 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:62287506C>T ENST00000378024.4 - 5 14657 c.14383G>A c.(14383-14385)Gga>Aga p.G4795R AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4795 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGACCTTCTCCTTTGAAGCCA 0.527000 36 170 0 0 0.069456 0 0 WDR19 57728 broad.mit.edu 37 4 39279780 39279780 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:39279780G>T ENST00000399820.3 + 35 4024 c.3870G>T c.(3868-3870)acG>acT p.T1290T WDR19_ENST00000288634.7_Silent_p.T1130T NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1290 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ATGACTGGACGGTGTGTCCAC 0.403000 3 16 0.00024832 0.0002884 0.009096 1 0 CXXC1 30827 broad.mit.edu 37 18 47810824 47810824 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:47810824C>T ENST00000285106.6 - 9 1843 c.1129G>A c.(1129-1131)Ggg>Agg p.G377R CXXC1_ENST00000412036.2_Missense_Mutation_p.G381R|CXXC1_ENST00000589940.1_Missense_Mutation_p.G377R NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 377 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CAGCCGGGCCCCAGGCACTGG 0.592000 17 74 0 0 0.038395 0 0 COL4A6 1288 broad.mit.edu 37 X 107404923 107404923 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:107404923C>A ENST00000334504.7 - 42 4492 c.4259G>T c.(4258-4260)aGt>aTt p.S1420I COL4A6_ENST00000545689.1_Missense_Mutation_p.S1396I|COL4A6_ENST00000372216.4_Missense_Mutation_p.S1421I|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1363I|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1421I NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1421 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TGGGAGCCCACTGGGGCCATC 0.592000 Alport syndrome with Diffuse Leiomyomatosis 9 5 4.68919e-08 6.53525e-08 0.069234 1 0 NUP133 55746 broad.mit.edu 37 1 229636557 229636557 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:229636557G>A ENST00000261396.3 - 4 550 c.459C>T c.(457-459)gcC>gcT p.A153A NUP133_ENST00000366679.1_Silent_p.A153A|NUP133_ENST00000537506.1_Silent_p.A137A|NUP133_ENST00000366678.3_Silent_p.A153A NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 153 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CCACTAAGTCGGCACTCCAGT 0.393000 8 16 0 0 0.058154 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 3 46 0 0 0.115264 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693248 69693248 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:69693248C>G ENST00000265403.7 + 5 1316 c.1289C>G c.(1288-1290)aCa>aGa p.T430R UGT2B10_ENST00000458688.2_Missense_Mutation_p.T346R NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 430 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GCACTGAAGACAGTAATTAAT 0.388000 20 88 0 0 0.062417 0 0 GRIA1 2890 broad.mit.edu 37 5 153144084 153144084 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:153144084G>T ENST00000285900.5 + 12 2257 c.1914G>T c.(1912-1914)ctG>ctT p.L638L GRIA1_ENST00000340592.5_Silent_p.L638L|GRIA1_ENST00000518142.1_Silent_p.L558L|GRIA1_ENST00000521843.2_Silent_p.L569L|GRIA1_ENST00000518783.1_Silent_p.L648L|GRIA1_ENST00000448073.4_Silent_p.L648L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 638 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCGCCTTCCTGACCGTGGAGA 0.547000 21 40 1.17739e-12 1.94373e-12 0.108266 1 0 MPDZ 8777 broad.mit.edu 37 9 13168463 13168463 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:13168463G>T ENST00000319217.7 - 22 3403 c.3156C>A c.(3154-3156)gaC>gaA p.D1052E MPDZ_ENST00000546205.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1052E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1052E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1052E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1052E NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1052 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACAAGATGCAGTCCCCAATGG 0.458000 6 307 0.00116845 0.00130661 0.021553 1 0 CMYA5 202333 broad.mit.edu 37 5 79026536 79026536 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:79026536G>C ENST00000446378.2 + 2 1979 c.1948G>C c.(1948-1950)Gag>Cag p.E650Q NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 650 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCCTACATCTGAGAGCTCTCT 0.463000 4 100 0 0 0.009096 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739741 34739741 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:34739741G>T ENST00000562591.1 - 0 181 NR_034019.1 AGTTTCTTATGACAGTTTCAG 0.398000 8 18 0.000157383 0.000185387 0.038147 1 0 PRR16 51334 broad.mit.edu 37 5 120022087 120022087 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:120022087G>C ENST00000379551.2 + 3 886 c.529G>C c.(529-531)Ggg>Cgg p.G177R PRR16_ENST00000407149.2_Missense_Mutation_p.G200R|PRR16_ENST00000446965.1_Missense_Mutation_p.G130R|PRR16_ENST00000505123.1_Missense_Mutation_p.G130R NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 200 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCCCAGGCAGGGCCTCGAGA 0.463000 28 50 0 0 0.144211 0 0 MUC3A 4584 broad.mit.edu 37 7 100551374 100551374 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:100551374T>A ENST00000319509.7 + 1 125 c.125T>A c.(124-126)cTa>cAa p.L42Q mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACCACAAGCCTACGAACTCTC 0.502000 5 36 0 0 0.021553 0 0 REG1A 5967 broad.mit.edu 37 2 79349191 79349191 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:79349191G>A ENST00000233735.1 + 4 364 c.261G>A c.(259-261)ctG>ctA p.L87L NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 87 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TGGCCTCACTGATTAAGGAGA 0.502000 26 80 0 0 0.134883 0 0 MAPT 4137 broad.mit.edu 37 17 44067401 44067401 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:44067401C>T ENST00000344290.5 + 8 1662 c.1340C>T c.(1339-1341)tCc>tTc p.S447F MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S447F|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S447F|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S447F NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 447 S -> P (in dbSNP:rs10445337). cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) TCTGTCACTTCCCGAACTGGC 0.532000 15 68 0 0 0.132662 0 0 HCAR2 338442 broad.mit.edu 37 12 123187751 123187751 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:123187751A>G ENST00000328880.5 - 1 139 c.80T>C c.(79-81)gTc>gCc p.V27A RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 27 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CAACACCTTGACAATGAAGTC 0.512000 3 45 0 0 0.009096 0 0 INO80C 125476 broad.mit.edu 37 18 33060527 33060527 + Translation_Start_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:33060527C>A ENST00000586489.1 - 0 144 INO80C_ENST00000592173.1_Splice_Site_p.G53_splice|INO80C_ENST00000334598.7_Splice_Site_p.G53_splice|INO80C_ENST00000441607.2_Splice_Site_p.G89_splice|INO80C_ENST00000590757.1_Intron|RP11-322E11.6_ENST00000589258.1_Intron Q6PI98 IN80C_HUMAN INO80 complex subunit C DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1) 8 ATGCTGATACCCTTAAAACAT 0.448000 13 76 0.000151284 0.000179481 0.105934 1 0 XRN2 22803 broad.mit.edu 37 20 21367514 21367514 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:21367514G>T ENST00000377191.3 + 29 2752 c.2657G>T c.(2656-2658)gGg>gTg p.G886V XRN2_ENST00000539513.1_Missense_Mutation_p.G832V|XRN2_ENST00000430571.2_Missense_Mutation_p.G810V NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 886 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 AGAGGCGTTGGGGCTGAACCT 0.498000 18 89 2.37509e-13 3.95053e-13 0.055883 1 0 KRT6A 3853 broad.mit.edu 37 12 52884506 52884506 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:52884506C>A ENST00000330722.6 - 5 992 c.924G>T c.(922-924)caG>caT p.Q308H NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 308 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GGGTCTGCATCTGGGACAGCT 0.507000 62 94 5.80444e-35 1.14361e-34 0.139131 1 0 CLEC9A 283420 broad.mit.edu 37 12 10218182 10218182 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:10218182C>A ENST00000355819.1 + 9 1290 c.677C>A c.(676-678)aCg>aAg p.T226K NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 226 C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 AACTGCAGCACGTGGAAGTAT 0.423000 29 64 1.08312e-15 1.92749e-15 0.144211 1 0 TIE1 7075 broad.mit.edu 37 1 43770805 43770805 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:43770805G>T ENST00000372476.3 + 2 421 c.342G>T c.(340-342)acG>acT p.T114T TIE1_ENST00000441333.2_Silent_p.T114T|TIE1_ENST00000538015.1_Silent_p.T114T NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 114 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGCGGCGCACGCGCGTCATCT 0.701000 3 14 0.004672 0.00509533 0.115264 1 0 RXRA 6256 broad.mit.edu 37 9 137328357 137328357 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:137328357G>T ENST00000540193.1 + 9 1918 c.995G>T c.(994-996)gGg>gTg p.G332V RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G429V P19793 RXRA_HUMAN retinoid X receptor, alpha 429 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CGCTCCATCGGGCTCAAATGC 0.597000 5 29 2.0095e-06 2.58308e-06 0.029380 1 0 NR1H2 7376 broad.mit.edu 37 19 50881606 50881606 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:50881606G>T ENST00000253727.5 + 5 617 c.382G>T c.(382-384)Ggc>Tgc p.G128C NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000598168.1_Missense_Mutation_p.G128C|NR1H2_ENST00000593926.1_Missense_Mutation_p.G128C|NR1H2_ENST00000599105.1_Missense_Mutation_p.G128C NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 128 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CTGCCGGGGTGGCGGAACCTG 0.657000 6 34 0.0215528 0.0227559 0.021553 1 0 RYR2 6262 broad.mit.edu 37 1 237947190 237947190 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:237947190C>A ENST00000366574.2 + 90 12495 c.12178C>A c.(12178-12180)Cag>Aag p.Q4060K RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4060 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCACTACACGCAGTCAGAAAC 0.483000 12 46 4.3838e-07 5.81578e-07 0.105934 1 0 AASDH 132949 broad.mit.edu 37 4 57220230 57220230 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:57220230C>A ENST00000205214.6 - 8 1538 c.1358G>T c.(1357-1359)cGt>cTt p.R453L AASDH_ENST00000602986.1_Missense_Mutation_p.R300L|AASDH_ENST00000513376.1_Missense_Mutation_p.R353L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.R453L|AASDH_ENST00000502617.1_Missense_Mutation_p.R453L NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 453 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AATGTTAAGACGTTTGCCATG 0.373000 7 36 1.12685e-05 1.40485e-05 0.047766 1 0 STAT6 6778 broad.mit.edu 37 12 57498342 57498342 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:57498342G>C ENST00000300134.3 - 11 1442 c.1117C>G c.(1117-1119)Cgg>Ggg p.R373G STAT6_ENST00000454075.3_Missense_Mutation_p.R373G|STAT6_ENST00000538913.2_Missense_Mutation_p.R263G|STAT6_ENST00000556155.1_Missense_Mutation_p.R373G|STAT6_ENST00000543873.2_Missense_Mutation_p.R373G|STAT6_ENST00000537215.2_Missense_Mutation_p.R263G NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 373 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GTGCCCTTCCGCTCACACCGC 0.592000 7 29 0 0 0.038147 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172210 21172210 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:21172210T>A ENST00000421593.2 + 2 114 c.114T>A c.(112-114)agT>agA p.S38R SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TATTTGTAAGTTACTTTGGAT 0.333000 8 40 0 0 0.038147 0 0 CRYGC 1420 broad.mit.edu 37 2 208992953 208992953 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:208992953A>T ENST00000282141.3 - 3 536 c.499T>A c.(499-501)Ttg>Atg p.L167M NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 167 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) ACTCTCCGCAAAGAGCCTGCC 0.507000 21 107 0 0 0.069288 0 0 VAT1L 57687 broad.mit.edu 37 16 77850897 77850897 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:77850897G>T ENST00000302536.2 + 2 466 c.313G>T c.(313-315)Gag>Tag p.E105* NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 105 oxidoreductase activity|zinc ion binding p.E105Q(1) central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCCAGGATTTGAGTGTTCTGG 0.428000 27 119 4.74835e-14 8.06003e-14 0.045705 1 0 BOC 91653 broad.mit.edu 37 3 112992161 112992161 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:112992161G>C ENST00000495514.1 + 8 1911 c.1207G>C c.(1207-1209)Gta>Cta p.V403L BOC_ENST00000273395.4_Missense_Mutation_p.V403L|BOC_ENST00000355385.3_Missense_Mutation_p.V403L Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 403 Ig-like C2-type 4. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CGCCCATGCCGTAGTCCAGCT 0.592000 5 12 0 0 0.014758 0 0 CYP26B1 56603 broad.mit.edu 37 2 72359591 72359591 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:72359591C>A ENST00000001146.2 - 6 1507 c.1304G>T c.(1303-1305)gGt>gTt p.G435V CYP26B1_ENST00000546307.1_Missense_Mutation_p.G360V|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G244V NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 435 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 GACACCGCCACCGAACGGGAG 0.642000 6 17 5.68852e-11 8.90261e-11 0.047766 1 0 CXorf67 340602 broad.mit.edu 37 X 51150995 51150995 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:51150995C>A ENST00000342995.2 + 1 1229 c.1127C>A c.(1126-1128)tCa>tAa p.S376* chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GGGACTGGCTCAGAAAGGCTT 0.602000 7 6 5.4927e-09 8.09837e-09 0.047766 1 0 OR4C11 219429 broad.mit.edu 37 11 55371098 55371098 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55371098G>T ENST00000302231.4 - 1 776 c.752C>A c.(751-753)cCa>cAa p.P251Q NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GAATATACATGGGCCAAAGAA 0.443000 10 17 0.000673444 0.00076339 0.069234 1 0 TMX2 51075 broad.mit.edu 37 11 57505860 57505860 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:57505860G>C ENST00000278422.4 + 4 411 c.399G>C c.(397-399)atG>atC p.M133I TMX2_ENST00000378312.4_Missense_Mutation_p.M95I|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 133 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 CCCTATATATGGGCCCTGAGT 0.408000 26 111 0 0 0.125774 0 0 PTPRT 11122 broad.mit.edu 37 20 40877394 40877394 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:40877394C>A ENST00000373198.3 - 15 2537 c.2302G>T c.(2302-2304)Ggc>Tgc p.G768C PTPRT_ENST00000373201.1_Missense_Mutation_p.G749C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G768C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G749C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G749C NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 749 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCGATCACGCCAGCCATCTTC 0.537000 20 75 1.10923e-09 1.6651e-09 0.076483 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555855 155555855 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:155555855C>T ENST00000295101.2 + 1 1045 c.568C>T c.(568-570)Cgc>Tgc p.R190C KCNJ3_ENST00000544049.1_Missense_Mutation_p.R190C NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 190 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GCCCAAGAAGCGCGCCGAGAC 0.587000 5 37 0 0 0.021553 0 0 FGD5 152273 broad.mit.edu 37 3 14905647 14905647 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:14905647G>A ENST00000285046.5 + 2 2648 c.2538G>A c.(2536-2538)gaG>gaA p.E846E FGD5_ENST00000543601.1_Silent_p.E605E NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 846 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCTACACAGAGCCCTACAAAG 0.537000 44 121 0 0 0.139131 0 0 SCN7A 6332 broad.mit.edu 37 2 167262666 167262666 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:167262666G>T ENST00000409855.1 - 25 4599 c.4473C>A c.(4471-4473)taC>taA p.Y1491* NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1491 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CAACAACAATGTACATATTTA 0.348000 7 33 0.0293803 0.030775 0.029380 1 0 TIE1 7075 broad.mit.edu 37 1 43779623 43779623 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:43779623C>G ENST00000372476.3 + 14 2472 c.2393C>G c.(2392-2394)aCc>aGc p.T798S TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.T443S NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 798 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGCACCTTCACCTACCAGTCA 0.597000 6 28 0 0 0.038147 0 0 OXA1L 5018 broad.mit.edu 37 14 23239424 23239424 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:23239424G>T ENST00000358043.5 + 5 876 c.558G>T c.(556-558)atG>atT p.M186I OXA1L_ENST00000412791.1_Missense_Mutation_p.M202I|OXA1L_ENST00000285848.5_Missense_Mutation_p.M262I|OXA1L_ENST00000604262.1_Missense_Mutation_p.M202I Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 202 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CCTCGGAGATGGCACTTTACC 0.423000 17 63 1.2644e-06 1.64447e-06 0.055883 1 0 MAST4 375449 broad.mit.edu 37 5 66429410 66429410 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:66429410G>T ENST00000404260.3 + 17 2479 c.2171G>T c.(2170-2172)aGc>aTc p.S724I MAST4_ENST00000261569.7_Missense_Mutation_p.S527I|MAST4_ENST00000405643.1_Missense_Mutation_p.S542I|MAST4_ENST00000403666.1_Missense_Mutation_p.S532I|MAST4_ENST00000403625.2_Missense_Mutation_p.S721I O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 724 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGACTAATGAGCATGACTACC 0.418000 28 71 5.45727e-16 9.81715e-16 0.134883 1 0 LRFN5 145581 broad.mit.edu 37 14 42356412 42356412 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:42356412A>T ENST00000554171.1 + 5 3016 c.584A>T c.(583-585)cAc>cTc p.H195L LRFN5_ENST00000554120.1_Missense_Mutation_p.H195L|LRFN5_ENST00000298119.4_Missense_Mutation_p.H195L Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 195 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TCCCATTTGCACAAGATGACT 0.433000 HNSCC(30;0.082) 4 25 0 0 0.009096 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907980 12907980 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:12907980C>T ENST00000317869.6 - 2 388 c.163G>A c.(163-165)Gtt>Att p.V55I NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.V55I(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCATATTGAACGAAGGCAAAG 0.473000 5 83 0 0 0.014758 0 0 ENKUR 219670 broad.mit.edu 37 10 25279523 25279523 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:25279523G>T ENST00000331161.4 - 4 682 c.463C>A c.(463-465)Cct>Act p.P155T ENKUR_ENST00000376363.1_Missense_Mutation_p.P155T NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 155 cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 ATGTATTCAGGTGTGACACCA 0.338000 8 48 5.18039e-06 6.59504e-06 0.038147 1 0 MTERFD1 51001 broad.mit.edu 37 8 97270803 97270803 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:97270803T>C ENST00000523821.1 - 2 235 c.116A>G c.(115-117)cAt>cGt p.H39R MTERFD1_ENST00000287025.3_Missense_Mutation_p.H39R Q96E29 MTER1_HUMAN MTERF domain containing 1 39 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) AGAAAAGCCATGTAACAGTGT 0.428000 30 90 0 0 0.134883 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471984 47471984 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:47471984G>T ENST00000266581.4 - 2 1268 c.802C>A c.(802-804)Cac>Aac p.H268N AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 268 LRRCT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane p.H268N(2) endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TGACGCGAGTGCCTGGAGTCA 0.478000 6 53 0.0215528 0.0227559 0.021553 1 0 FLNC 2318 broad.mit.edu 37 7 128490515 128490515 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:128490515G>T ENST00000325888.8 + 32 5637 c.5376G>T c.(5374-5376)gcG>gcT p.A1792A FLNC_ENST00000346177.6_Silent_p.A1759A|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1792 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCCCCTTCGCGGTGCAGAAAG 0.607000 6 45 5.9392e-07 7.8166e-07 0.021553 1 0 ANKRD50 57182 broad.mit.edu 37 4 125592488 125592488 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:125592488C>A ENST00000504087.1 - 4 2981 c.1944G>T c.(1942-1944)ttG>ttT p.L648F ANKRD50_ENST00000515641.1_Missense_Mutation_p.L469F NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 648 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CTGCTGCTCTCAAAGCTGTTC 0.463000 21 51 2.89027e-11 4.58839e-11 0.069288 1 0 FAT3 120114 broad.mit.edu 37 11 92577580 92577580 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:92577580G>A ENST00000298047.6 + 18 11064 c.11047G>A c.(11047-11049)Gac>Aac p.D3683N FAT3_ENST00000533797.1_Missense_Mutation_p.D18N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3533N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3683N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3683 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCAGAAGCAGGACAGCCTGCG 0.597000 TCGA Ovarian(4;0.039) 5 22 0 0 0.029380 0 0 RYR3 6263 broad.mit.edu 37 15 33961598 33961598 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:33961598G>T ENST00000389232.4 + 37 5733 c.5663G>T c.(5662-5664)tGc>tTc p.C1888F RYR3_ENST00000415757.3_Missense_Mutation_p.C1888F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1888 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACTGCCCCTGCCCAGAGGAG 0.473000 10 68 0.00621372 0.00673237 0.058154 1 0 PKLR 5313 broad.mit.edu 37 1 155262972 155262972 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:155262972C>A ENST00000392414.3 - 9 1452 c.1339G>T c.(1339-1341)Ggc>Tgc p.G447C PKLR_ENST00000342741.4_Missense_Mutation_p.G478C NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 478 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCTCACCGGCCAGTTGTGGTC 0.607000 4 131 0.00116845 0.00130661 0.021553 1 0 EFCAB12 90288 broad.mit.edu 37 3 129130133 129130133 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:129130133T>C ENST00000505956.1 - 5 1065 c.903A>G c.(901-903)tcA>tcG p.S301S EFCAB12_ENST00000326085.3_Silent_p.S301S NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 GCTGTGGGGCTGAATCCACCT 0.572000 3 114 0 0 0.115264 0 0 EPX 8288 broad.mit.edu 37 17 56272478 56272478 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:56272478G>A ENST00000225371.5 + 6 858 c.748G>A c.(748-750)Ggc>Agc p.G250S NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 250 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CTTCACTGCAGGCGTTGACTG 0.632000 22 76 0 0 0.076483 0 0 PCLO 27445 broad.mit.edu 37 7 82508748 82508748 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:82508748C>A ENST00000423517.2 - 10 13896 c.13559G>T c.(13558-13560)gGt>gTt p.G4520V PCLO_ENST00000333891.8_Missense_Mutation_p.G4520V|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GATTTCTTTACCACCCACAAT 0.393000 6 21 0.00198382 0.00218881 0.029380 1 0 PRDM11 56981 broad.mit.edu 37 11 45246307 45246307 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:45246307T>A ENST00000263765.4 + 8 1633 c.1384T>A c.(1384-1386)Tta>Ata p.L462I PRDM11_ENST00000424263.2_Missense_Mutation_p.L428I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.L462I|PRDM11_ENST00000528980.1_Intron Q9NQV5 PRD11_HUMAN PR domain containing 11 462 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CCAGGCAGAATTAGACATGCT 0.532000 41 201 0 0 0.111260 0 0 TRIM58 25893 broad.mit.edu 37 1 248039404 248039404 + Nonsense_Mutation SNP G G A rs142321693 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:248039404G>A ENST00000366481.3 + 6 1122 c.1074G>A c.(1072-1074)tgG>tgA p.W358* OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 358 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGCAGAGTGGGGTTTAGGGG 0.562000 73 164 0 0 0.139131 0 0 CDH2 1000 broad.mit.edu 37 18 25572712 25572712 + Missense_Mutation SNP G G C rs138990743 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:25572712G>C ENST00000269141.3 - 9 1674 c.1251C>G c.(1249-1251)aaC>aaG p.N417K CDH2_ENST00000399380.3_Missense_Mutation_p.N386K NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 417 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGTACACTGCGTTCCAGGCTG 0.502000 7 39 0 0 0.069234 0 0 FAM114A1 92689 broad.mit.edu 37 4 38879976 38879976 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:38879976G>T ENST00000358869.2 + 3 453 c.277G>T c.(277-279)Gaa>Taa p.E93* FAM114A1_ENST00000515037.1_Intron NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 93 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 TACACTTGCTGAATGTATTGA 0.547000 14 39 2.35188e-11 3.77899e-11 0.038395 1 0 TTC29 83894 broad.mit.edu 37 4 147755028 147755028 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:147755028T>A ENST00000513335.1 - 10 1184 c.985A>T c.(985-987)Atc>Ttc p.I329F TTC29_ENST00000398886.4_Missense_Mutation_p.I329F|TTC29_ENST00000325106.4_Missense_Mutation_p.I303F Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 303 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCTGTGGAGATTTTACAGTAA 0.413000 12 28 0 0 0.093190 0 0 SEPSECS 51091 broad.mit.edu 37 4 25128906 25128906 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:25128906G>A ENST00000382103.2 - 9 1172 c.1100C>T c.(1099-1101)cCt>cTt p.P367L SEPSECS_ENST00000302922.3_Missense_Mutation_p.P288L|SEPSECS_ENST00000515272.1_5'UTR NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 367 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) GGGATTGTGAGGTGTATGCAA 0.333000 11 50 0 0 0.105934 0 0 UBBP4 23666 broad.mit.edu 37 17 21731248 21731248 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:21731248G>T ENST00000584755.1 + 2 947 c.550G>T c.(550-552)Gat>Tat p.D184Y UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CAAGATCCAAGATAAAGAAGG 0.527000 9 71 6.40141e-05 7.70497e-05 0.080935 1 0 TENM4 26011 broad.mit.edu 37 11 78380201 78380201 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:78380201G>C ENST00000278550.7 - 32 7651 c.7189C>G c.(7189-7191)Cag>Gag p.Q2397E NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ATGATGATCTGAAAGTTGGGG 0.517000 6 36 0 0 0.021553 0 0 ANK1 286 broad.mit.edu 37 8 41525923 41525923 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:41525923C>A ENST00000396942.1 - 39 5339 c.5256G>T c.(5254-5256)aaG>aaT p.K1752N ANK1_ENST00000379758.2_Missense_Mutation_p.K1752N|ANK1_ENST00000347528.4_Missense_Mutation_p.K1752N|ANK1_ENST00000289734.7_Missense_Mutation_p.K1752N|ANK1_ENST00000352337.4_Missense_Mutation_p.K1752N|ANK1_ENST00000265709.8_Missense_Mutation_p.K1793N|ANK1_ENST00000396945.1_Missense_Mutation_p.K1752N P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1752 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACACCAGGACCTTCTCGTACT 0.592000 25 82 3.6726e-16 6.62469e-16 0.091800 1 0 SAMD9 54809 broad.mit.edu 37 7 92735075 92735075 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:92735075T>C ENST00000379958.2 - 3 605 c.336A>G c.(334-336)caA>caG p.Q112Q NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 112 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CCTTTTGTTTTTGCTTTGAAG 0.383000 13 49 0 0 0.119110 0 0 MS4A1 931 broad.mit.edu 37 11 60233577 60233577 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:60233577G>T ENST00000534668.1 + 5 809 c.520G>T c.(520-522)Gag>Tag p.E174* MS4A1_ENST00000389939.2_Nonsense_Mutation_p.E174*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.E174*|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.E174* NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 174 Epitope 3 (recognized by antibodies, including Rituximab). B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TAATCCCTCTGAGAAAAACTC 0.363000 28 91 1.74807e-11 2.82249e-11 0.045705 1 0 VRTN 55237 broad.mit.edu 37 14 74824464 74824464 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:74824464G>T ENST00000256362.4 + 2 1219 c.978G>T c.(976-978)cgG>cgT p.R326R NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 326 transposition, DNA-mediated DNA binding|transposase activity p.R326R(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GCTTCCACCGGGGGGGCGTCG 0.642000 14 30 5.3912e-06 6.85024e-06 0.038395 1 0 BEND4 389206 broad.mit.edu 37 4 42122223 42122223 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:42122223C>T ENST00000502486.1 - 5 1814 c.1235G>A c.(1234-1236)aGa>aAa p.R412K BEND4_ENST00000504360.1_Missense_Mutation_p.R408K NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 412 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AAGGAGCCGTCTCCCATCTTT 0.463000 10 41 0 0 0.069234 0 0 COL22A1 169044 broad.mit.edu 37 8 139712386 139712386 + Splice_Site SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:139712386G>A ENST00000303045.6 - 32 3007 c.2559_splice c.e32-1 p.T854_splice COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.T854_splice NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 854 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAACAGGGATGTCTGAAAAGG 0.507000 HNSCC(7;0.00092) 15 21 0 0 0.049695 0 0 MMADHC 27249 broad.mit.edu 37 2 150426500 150426500 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:150426500T>A ENST00000428879.1 - 7 1383 c.879A>T c.(877-879)ttA>ttT p.L293F MMADHC_ENST00000303319.5_Missense_Mutation_p.L293F|MMADHC_ENST00000422782.2_Missense_Mutation_p.L327F Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 293 mitochondrion breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 AATTTCCACTTAATTTCTTCA 0.338000 8 30 0 0 0.080935 0 0 TYMS 7298 broad.mit.edu 37 18 669136 669136 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:669136C>T ENST00000323274.10 + 4 658 c.519C>T c.(517-519)gaC>gaT p.D173D TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323250.5_Silent_p.D90D NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 173 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CCAACCCTGACGACAGAAGAA 0.428000 14 155 0 0 0.132662 0 0 DMD 1756 broad.mit.edu 37 X 32591900 32591900 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:32591900C>T ENST00000357033.4 - 14 1872 c.1666G>A c.(1666-1668)Gac>Aac p.D556N DMD_ENST00000378677.2_Missense_Mutation_p.D552N|DMD_ENST00000288447.4_Missense_Mutation_p.D548N NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 556 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAAGGATGTCTTGTAAAAGA 0.433000 6 5 0 0 0.038147 0 0 GABRA2 2555 broad.mit.edu 37 4 46252500 46252500 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:46252500G>A ENST00000510861.1 - 10 1354 c.1181C>T c.(1180-1182)cCa>cTa p.P394L GABRA2_ENST00000381620.4_Missense_Mutation_p.P394L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P454L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P399L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P394L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P394L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 394 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTTGGGTTCTGGCGTGGTTGC 0.428000 23 93 0 0 0.069288 0 0 KCND3 3752 broad.mit.edu 37 1 112524723 112524723 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:112524723G>T ENST00000369697.1 - 1 695 c.626C>A c.(625-627)aCg>aAg p.T209K KCND3_ENST00000315987.2_Missense_Mutation_p.T209K|KCND3_ENST00000302127.4_Missense_Mutation_p.T209K Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 209 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GCCCGGGACCGTGCCGCACGG 0.642000 6 23 8.12818e-05 9.66043e-05 0.029380 1 0 LECT1 11061 broad.mit.edu 37 13 53277868 53277868 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:53277868G>T ENST00000448904.2 - 7 974 c.864C>A c.(862-864)agC>agA p.S288R LECT1_ENST00000377962.3_Missense_Mutation_p.S289R NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 289 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) AGTGGGTGTAGCTCCGCCTAC 0.478000 8 33 1.06961e-07 1.46905e-07 0.038147 1 0 SNHG14 104472715 broad.mit.edu 37 15 25417782 25417782 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:25417782G>T ENST00000549301.1 + 0 503 SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA TCCCCGGGTTGGGTCGATGAT 0.522000 7 17 1.12685e-05 1.40485e-05 0.047766 1 0 SEMA4F 10505 broad.mit.edu 37 2 74900622 74900622 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:74900622G>T ENST00000357877.2 + 6 738 c.589G>T c.(589-591)Ggg>Tgg p.G197W SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 197 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AAACTACCTGGGGACGGAGCC 0.602000 8 33 2.80697e-09 4.17577e-09 0.080935 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328537 88328537 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:88328537G>A ENST00000325089.6 + 2 1113 c.894G>A c.(892-894)acG>acA p.T298T SLITRK5_ENST00000400028.3_Silent_p.T57T NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 298 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGCCGCAGACGCCTTTGAGCA 0.542000 15 63 0 0 0.049695 0 0 CDH11 1009 broad.mit.edu 37 16 65016088 65016088 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:65016088G>C ENST00000394156.3 - 8 1569 c.1116C>G c.(1114-1116)atC>atG p.I372M CDH11_ENST00000566827.1_Missense_Mutation_p.I246M|CDH11_ENST00000268603.4_Missense_Mutation_p.I372M P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 372 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTTCTACTGAGATCTTGACGG 0.517000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 50 131 0 0 0.139131 0 0 TLL1 7092 broad.mit.edu 37 4 167012460 167012460 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:167012460C>A ENST00000061240.2 + 19 3270 c.2623C>A c.(2623-2625)Caa>Aaa p.Q875K TLL1_ENST00000507499.1_Missense_Mutation_p.Q898K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 875 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGCATCTGTTCAAAGAAAAGG 0.413000 7 15 0.000157383 0.000185387 0.038147 1 0 SUSD4 55061 broad.mit.edu 37 1 223396608 223396608 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:223396608C>T ENST00000343846.3 - 7 2060 c.1427G>A c.(1426-1428)gGc>gAc p.G476D SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Missense_Mutation_p.G316D|SUSD4_ENST00000366878.4_Missense_Mutation_p.G476D Q5VX71 SUSD4_HUMAN sushi domain containing 4 476 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AATGTCGATGCCTGGGCTGGT 0.597000 11 54 0 0 0.080935 0 0 PKNOX2 63876 broad.mit.edu 37 11 125255525 125255525 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:125255525C>T ENST00000298282.9 + 6 577 c.306C>T c.(304-306)tcC>tcT p.S102S PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.S38S NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 102 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GCATCACCTCCGCCAGCTTTG 0.537000 14 90 0 0 0.105934 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451444 38451444 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:38451444C>A ENST00000322350.5 + 19 2917 c.2571C>A c.(2569-2571)ttC>ttA p.F857L EGFLAM_ENST00000336740.6_Missense_Mutation_p.F623L|EGFLAM_ENST00000506135.1_De_novo_Start_InFrame|EGFLAM_ENST00000354891.3_Missense_Mutation_p.F865L|EGFLAM_ENST00000397210.3_De_novo_Start_InFrame|EGFLAM_ENST00000514476.1_De_novo_Start_InFrame|EGFLAM_ENST00000397202.2_Missense_Mutation_p.F223L NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 865 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAAATGTGTTCATGAGGTTTA 0.468000 75 59 2.61964e-41 5.19222e-41 0.139131 1 0 ZFP37 7539 broad.mit.edu 37 9 115806359 115806359 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:115806359C>A ENST00000374227.3 - 4 566 c.539G>T c.(538-540)tGt>tTt p.C180F ZFP37_ENST00000553380.1_Missense_Mutation_p.C195F|ZFP37_ENST00000555206.1_Missense_Mutation_p.C181F Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 180 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AATTTTTCCACATGACTCAAA 0.333000 15 67 1.3612e-06 1.7669e-06 0.132662 1 0 SNRNP40 9410 broad.mit.edu 37 1 31762255 31762255 + Nonsense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:31762255G>C ENST00000263694.4 - 4 395 c.377C>G c.(376-378)tCa>tGa p.S126* SNRNP40_ENST00000446633.2_Nonsense_Mutation_p.S126* NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 126 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 TGTGGATGCTGAGAAAAGCAT 0.363000 14 60 0 0 0.146539 0 0 KIAA1109 84162 broad.mit.edu 37 4 123264575 123264575 + Silent SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:123264575A>T ENST00000264501.4 + 73 12736 c.12363A>T c.(12361-12363)ggA>ggT p.G4121G KIAA1109_ENST00000388738.3_Silent_p.G4121G Q2LD37 K1109_HUMAN KIAA1109 4121 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTCATCGGGATTAGGCAGCC 0.438000 12 40 0 0 0.105934 0 0 RC3H1 149041 broad.mit.edu 37 1 173933262 173933262 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:173933262C>A ENST00000367696.2 - 11 2031 c.1680G>T c.(1678-1680)agG>agT p.R560S RC3H1_ENST00000258349.4_Missense_Mutation_p.R560S|RC3H1_ENST00000367694.2_Missense_Mutation_p.R560S Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 560 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CTGCTGGCCCCCTTGGAGGTA 0.413000 9 49 0.00621372 0.00673237 0.058154 1 0 CD86 942 broad.mit.edu 37 3 121838342 121838342 + Silent SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:121838342G>C ENST00000330540.2 + 7 1067 c.951G>C c.(949-951)tcG>tcC p.S317S CD86_ENST00000264468.5_Silent_p.S104S|CD86_ENST00000469710.1_Silent_p.S235S|CD86_ENST00000493101.1_Silent_p.S205S|CD86_ENST00000393627.2_Silent_p.S311S NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 317 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TTAAAAGTTCGAAGACATCTT 0.333000 11 59 0 0 0.093190 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577935 101577935 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:101577935G>A ENST00000536262.2 - 8 1587 c.1029C>T c.(1027-1029)gcC>gcT p.A343A NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 343 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTAAGCACAGGCCACAAAAA 0.363000 13 50 0 0 0.055883 0 0 SHPRH 257218 broad.mit.edu 37 6 146264813 146264813 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:146264813C>A ENST00000367503.3 - 9 2102 c.1704G>T c.(1702-1704)aaG>aaT p.K568N SHPRH_ENST00000367505.2_Missense_Mutation_p.K568N|SHPRH_ENST00000438092.2_Missense_Mutation_p.K568N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K568N NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 568 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTCTCCTGGACTTATAATAAT 0.368000 11 19 5.50884e-06 6.94638e-06 0.093190 1 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 3 40 0.115264 0.119226 0.115264 1 0 OR4N5 390437 broad.mit.edu 37 14 20612688 20612688 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:20612688T>A ENST00000333629.1 + 1 794 c.794T>A c.(793-795)tTc>tAc p.F265Y NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TTCCAGGCTTTCCCAGCTGAC 0.428000 45 213 0 0 0.139131 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209204748 209204748 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:209204748G>T ENST00000264380.4 + 31 4982 c.4824G>T c.(4822-4824)ggG>ggT p.G1608G NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1608 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TGTTTGATGGGCATTTGCTGG 0.353000 16 66 9.16793e-09 1.32805e-08 0.033300 1 0 WNT3A 89780 broad.mit.edu 37 1 228247951 228247951 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:228247951C>A ENST00000366753.2 + 5 1151 c.1104C>A c.(1102-1104)ccC>ccA p.P368P WNT3A_ENST00000284523.1_3'UTR P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 0 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CACCTCATCCCCAACCCCCTG 0.637000 14 22 1.15088e-07 1.57089e-07 0.146539 1 0 CASC3 22794 broad.mit.edu 37 17 38319010 38319010 + Missense_Mutation SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:38319010A>C ENST00000264645.7 + 6 867 c.641A>C c.(640-642)gAt>gCt p.D214A NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 214 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CTATGGAAGGATGAGGGTCGC 0.493000 14 81 0 0 0.132662 0 0 MMP13 4322 broad.mit.edu 37 11 102819851 102819851 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:102819851C>A ENST00000260302.3 - 7 982 c.954G>T c.(952-954)gcG>gcT p.A318A MMP13_ENST00000340273.4_Silent_p.A318A NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 318 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAAACAGCTCCGCATCAACCT 0.413000 12 60 5.50884e-06 6.94638e-06 0.093190 1 0 DST 667 broad.mit.edu 37 6 56417961 56417961 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:56417961G>T ENST00000370754.5 - 61 15535 c.15536C>A c.(15535-15537)tCt>tAt p.S5179Y DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4675Y|DST_ENST00000421834.2_Missense_Mutation_p.S2913Y|DST_ENST00000361203.3_Missense_Mutation_p.S4999Y|DST_ENST00000370769.4_Missense_Mutation_p.S5001Y|DST_ENST00000244364.6_Missense_Mutation_p.S2587Y|DST_ENST00000370788.2_Missense_Mutation_p.S2913Y Q03001 DYST_HUMAN dystonin 4999 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTCTGCAGAGACTTTAACTT 0.403000 38 97 5.71845e-15 9.98843e-15 0.080422 1 0 KRIT1 889 broad.mit.edu 37 7 91830661 91830661 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:91830661C>G ENST00000394507.1 - 19 2885 c.2102G>C c.(2101-2103)aGc>aCc p.S701T KRIT1_ENST00000412043.2_Missense_Mutation_p.S701T|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Missense_Mutation_p.S653T|KRIT1_ENST00000394505.2_Missense_Mutation_p.S701T|KRIT1_ENST00000340022.2_Missense_Mutation_p.S701T NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 701 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTTTCCATGCTATGGATCTG 0.303000 13 72 0 0 0.105934 0 0 CSMD3 114788 broad.mit.edu 37 8 113418831 113418831 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:113418831G>T ENST00000297405.5 - 35 5975 c.5731C>A c.(5731-5733)Cat>Aat p.H1911N CSMD3_ENST00000455883.2_Missense_Mutation_p.H1807N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1871N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1841N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1911 Sushi 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGGATCCATGGAGAATATAT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 53 7.48243e-07 9.82811e-07 0.058154 1 0 MKS1 54903 broad.mit.edu 37 17 56291140 56291140 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:56291140G>A ENST00000393119.2 - 7 809 c.735C>T c.(733-735)ctC>ctT p.L245L MKS1_ENST00000537529.2_Silent_p.L235L|MKS1_ENST00000313863.6_Silent_p.L245L|MKS1_ENST00000546108.1_Silent_p.L42L|MKS1_ENST00000337050.7_Silent_p.L245L NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 245 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGGTCCTTTGAGGCCCGTGA 0.473000 20 55 0 0 0.076483 0 0 PEG3 5178 broad.mit.edu 37 19 57328692 57328692 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:57328692C>A ENST00000326441.9 - 10 1481 c.1118G>T c.(1117-1119)gGa>gTa p.G373V ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G373V|PEG3_ENST00000598410.1_Missense_Mutation_p.G249V|PEG3_ENST00000593695.1_Missense_Mutation_p.G247V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 373 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTAAAGCCTCCCCTAAATGC 0.438000 16 40 3.45872e-05 4.20895e-05 0.146539 1 0 GRM8 2918 broad.mit.edu 37 7 126544734 126544734 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:126544734C>A ENST00000339582.2 - 4 1539 c.731G>T c.(730-732)gGt>gTt p.G244V GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.G244V|GRM8_ENST00000358373.3_Missense_Mutation_p.G244V|GRM8_ENST00000444921.2_Missense_Mutation_p.G244V O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 244 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AATGCAAACACCACCTATTTA 0.373000 HNSCC(24;0.065) 8 34 0.000274275 0.000315226 0.047766 1 0 CLMP 79827 broad.mit.edu 37 11 122954456 122954456 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:122954456A>T ENST00000448775.2 - 4 828 c.488T>A c.(487-489)gTg>gAg p.V163E NM_024769.2 NP_079045.1 Q9H6B4 CLMP_HUMAN CXADR-like membrane protein 163 Ig-like C2-type 2. integral to membrane|tight junction p.V163A(1) endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 CCAGTAATACACAATGGGCTC 0.498000 4 32 0 0 0.014758 0 0 PLCD4 84812 broad.mit.edu 37 2 219487513 219487513 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:219487513G>T ENST00000450993.2 + 6 1023 c.684G>T c.(682-684)ttG>ttT p.L228F PLCD4_ENST00000417849.1_Missense_Mutation_p.L228F|PLCD4_ENST00000432688.1_Missense_Mutation_p.L228F NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 228 EF-hand 3. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGGAATTTTTGGATTTCCTCC 0.463000 22 98 3.10358e-05 3.79072e-05 0.069288 1 0 CCDC80 151887 broad.mit.edu 37 3 112358551 112358551 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:112358551C>A ENST00000206423.3 - 2 1155 c.202G>T c.(202-204)Gaa>Taa p.E68* CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E68*|CCDC80_ENST00000475181.1_5'UTR NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 68 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AGGTTTGGTTCCTCCAGAGTG 0.597000 33 46 1.36615e-20 2.60631e-20 0.054565 1 0 YY2 404281 broad.mit.edu 37 X 21874864 21874864 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:21874864G>T ENST00000429584.2 + 1 760 c.262G>T c.(262-264)Gtg>Ttg p.V88L MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 88 Mediates transcriptional activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 AGAGGAAGTGGTGGGCTATTG 0.557000 17 21 3.51602e-12 5.70491e-12 0.049695 1 0 RGS4 5999 broad.mit.edu 37 1 163044230 163044230 + Silent SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:163044230C>G ENST00000421743.2 + 6 949 c.789C>G c.(787-789)cgC>cgG p.R263R RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Silent_p.R166R|RGS4_ENST00000367906.3_Silent_p.R148R|RGS4_ENST00000527809.1_Silent_p.R148R|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 166 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 ATTCCTACCGCCGCTTCCTCA 0.507000 125 192 0 0 0.139131 0 0 TBC1D5 9779 broad.mit.edu 37 3 17413737 17413737 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:17413737C>A ENST00000253692.7 - 13 2489 c.825G>T c.(823-825)ggG>ggT p.G275G TBC1D5_ENST00000446818.2_Silent_p.G275G|TBC1D5_ENST00000429383.4_Silent_p.G275G|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Silent_p.G227G NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 275 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GTGTTTCTTTCCCCTAAAAAC 0.318000 10 25 1.76689e-08 2.52087e-08 0.058154 1 0 MSC 9242 broad.mit.edu 37 8 72754983 72754983 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:72754983C>A ENST00000325509.4 - 2 824 c.e2-1 MSC_ENST00000518440.1_Splice_Site|RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) ATGGCCATGTCTGTAAATCAA 0.478000 47 179 3.05275e-18 5.67674e-18 0.131918 1 0 NUP214 8021 broad.mit.edu 37 9 134073366 134073366 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:134073366G>T ENST00000359428.5 + 29 4629 c.4485G>T c.(4483-4485)gaG>gaT p.E1495D NUP214_ENST00000483497.2_Missense_Mutation_p.E321D|NUP214_ENST00000451030.1_Missense_Mutation_p.E1496D|NUP214_ENST00000411637.2_Missense_Mutation_p.E1485D P35658 NU214_HUMAN nucleoporin 214kDa 1495 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GCACAGAAGAGGCCACTTCAT 0.557000 T """DEK, SET, ABL1""" """AML, T-ALL""" 18 72 2.39187e-15 4.22245e-15 0.049695 1 0 GPR85 54329 broad.mit.edu 37 7 112724005 112724005 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:112724005C>A ENST00000501255.2 - 3 1395 c.772G>T c.(772-774)Ggc>Tgc p.G258C GPR85_ENST00000424100.1_Missense_Mutation_p.G258C|GPR85_ENST00000449591.1_Missense_Mutation_p.G258C|GPR85_ENST00000297146.2_Missense_Mutation_p.G258C NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 258 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGCCTGATGCCCAGCAAGGTG 0.498000 23 81 6.44725e-10 9.81168e-10 0.069288 1 0 DCDC1 341019 broad.mit.edu 37 11 30953441 30953441 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:30953441G>T ENST00000597505.1 - 20 2773 c.2774C>A c.(2773-2775)cCc>cAc p.P925H DCDC1_ENST00000339794.5_Missense_Mutation_p.P4H|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 277 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTTACAGATGGGTTTCTTCAT 0.413000 11 33 1.49906e-05 1.86187e-05 0.119110 1 0 PTPRN2 5799 broad.mit.edu 37 7 157931198 157931198 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:157931198A>T ENST00000389413.3 - 7 1023 c.920T>A c.(919-921)aTt>aAt p.I307N PTPRN2_ENST00000404321.2_Missense_Mutation_p.I330N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.I307N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.I269N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.I290N NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 307 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAGGGTATGAATCCGTGCTCC 0.622000 3 5 0 0 0.014758 0 0 CCDC68 80323 broad.mit.edu 37 18 52604064 52604064 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:52604064C>A ENST00000591504.1 - 6 745 c.471_splice c.e6+1 p.Q157_splice CCDC68_ENST00000337363.4_Splice_Site_p.Q157_splice|CCDC68_ENST00000432185.1_Splice_Site_p.Q157_splice NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 157 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TGTTTGGTACCTGGAGTAATT 0.438000 3 32 1.23904e-05 1.54181e-05 0.014758 1 0 NEK5 341676 broad.mit.edu 37 13 52676102 52676102 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:52676102G>T ENST00000355568.4 - 11 998 c.859C>A c.(859-861)Cca>Aca p.P287T NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 287 ATP binding|metal ion binding|protein serine/threonine kinase activity p.P344S(1)|p.P287S(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CGAGAAGCTGGCGCTCCTGCT 0.448000 17 56 3.99206e-14 6.81119e-14 0.043863 1 0 KYNU 8942 broad.mit.edu 37 2 143798074 143798074 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:143798074G>A ENST00000264170.4 + 13 1377 c.1119G>A c.(1117-1119)aaG>aaA p.K373K KYNU_ENST00000409512.1_Silent_p.K373K NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 373 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ACCTGATCAAGCATAACTATG 0.413000 17 75 0 0 0.146539 0 0 CAGE1 285782 broad.mit.edu 37 6 7374192 7374192 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:7374192G>A ENST00000502583.1 - 5 1424 c.860C>T c.(859-861)cCt>cTt p.P287L CAGE1_ENST00000509324.1_5'UTR|CAGE1_ENST00000512086.1_Missense_Mutation_p.P287L|CAGE1_ENST00000296742.7_Missense_Mutation_p.P151L|CAGE1_ENST00000379918.4_Missense_Mutation_p.P287L|CAGE1_ENST00000338150.4_Missense_Mutation_p.P287L NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 287 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) CTCCCAGTCAGGCATCTCACA 0.468000 8 40 0 0 0.038147 0 0 PHGDH 26227 broad.mit.edu 37 1 120277957 120277957 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:120277957G>T ENST00000369407.3 + 6 2088 c.581G>T c.(580-582)gGg>gTg p.G194V PHGDH_ENST00000369409.4_Missense_Mutation_p.G228V O43175 SERA_HUMAN phosphoglycerate dehydrogenase 228 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) TGCAAGAAGGGGGTGCGTGTG 0.637000 22 145 7.07758e-08 9.76116e-08 0.099896 1 0 PI15 51050 broad.mit.edu 37 8 75737719 75737719 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:75737719G>T ENST00000260113.2 + 2 414 c.235G>T c.(235-237)Ggc>Tgc p.G79C RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.G79C|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 79 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TCAAGTTCGGGGCAAAGTGTT 0.388000 7 25 8.12818e-05 9.66043e-05 0.029380 1 0 GPNMB 10457 broad.mit.edu 37 7 23313764 23313764 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:23313764G>A ENST00000258733.4 + 11 1899 c.1604G>A c.(1603-1605)cGt>cAt p.R535H GPNMB_ENST00000539136.1_Missense_Mutation_p.R436H|GPNMB_ENST00000381990.2_Missense_Mutation_p.R547H|GPNMB_ENST00000453162.2_Missense_Mutation_p.R489H|GPNMB_ENST00000478451.1_3'UTR Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 547 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) TTTCTCAACCGTGCAAAAGCC 0.413000 3 56 0 0 0.009096 0 0 ZMYND11 10771 broad.mit.edu 37 10 226021 226021 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:226021G>T ENST00000397962.3 + 2 497 c.69G>T c.(67-69)gaG>gaT p.E23D ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E23D|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E23D|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E23D|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E23D|ZMYND11_ENST00000309776.4_5'UTR Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 483 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CAGCCATTGAGATTATACGGA 0.383000 32 109 1.59361e-14 2.75449e-14 0.092188 1 0 IL21R 50615 broad.mit.edu 37 16 27456509 27456509 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:27456509G>T ENST00000337929.3 + 7 1170 c.697G>T c.(697-699)Ggc>Tgc p.G233C IL21R_ENST00000395754.4_Missense_Mutation_p.G233C|IL21R_ENST00000395755.1_Missense_Mutation_p.G233C|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.G233C NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 233 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GTTAAAGGAAGGCTGGAACCC 0.542000 T BCL6 NHL 5 15 0.014758 0.0156567 0.014758 1 0 PTPRB 5787 broad.mit.edu 37 12 71029628 71029628 + Nonsense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:71029628G>A ENST00000334414.6 - 2 318 c.274C>T c.(274-276)Cga>Tga p.R92* PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R91*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R92* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) CAGGTCCATCGGGGTGCCTGG 0.547000 10 15 0 0 0.080935 0 0 CDH9 1007 broad.mit.edu 37 5 26906108 26906108 + Silent SNP C C A rs141361996 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:26906108C>A ENST00000231021.4 - 5 943 c.771G>T c.(769-771)acG>acT p.T257T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 257 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T257T(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CATCTGTCAGCGTGATGTTCA 0.463000 62 75 5.22007e-41 1.03155e-40 0.139131 1 0 DAB1 1600 broad.mit.edu 37 1 57480832 57480832 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:57480832C>G ENST00000371236.2 - 12 1431 c.1168G>C c.(1168-1170)Gtc>Ctc p.V390L DAB1_ENST00000371234.4_Missense_Mutation_p.V390L|DAB1_ENST00000439789.2_Missense_Mutation_p.V304L|DAB1_ENST00000371231.1_Missense_Mutation_p.V423L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.V388L|DAB1_ENST00000414851.2_Missense_Mutation_p.V372L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 423 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GTGCCTGGGACGGTGGCAAGG 0.587000 6 29 0 0 0.038147 0 0 POSTN 10631 broad.mit.edu 37 13 38143960 38143960 + Splice_Site SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:38143960T>C ENST00000379747.4 - 20 2387 c.e20-2 POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.?(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTTCAGGACCTATGAGAAGGA 0.378000 7 26 0 0 0.038147 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622307 18622307 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:18622307G>A ENST00000380548.4 + 5 880 c.541G>A c.(541-543)Gat>Aat p.D181N ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D181N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D181N NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 181 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CTGCAACGGAGATGGGTCCAC 0.517000 4 52 0 0 0.014758 0 0 RCN3 57333 broad.mit.edu 37 19 50040313 50040313 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:50040313G>C ENST00000270645.3 + 4 916 c.469G>C c.(469-471)Gat>Cat p.D157H RCN3_ENST00000593644.1_3'UTR NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 157 endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) TGACGTGGAGGATGCAGAGAC 0.532000 33 152 0 0 0.064281 0 0 OR5T2 219464 broad.mit.edu 37 11 55999935 55999935 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55999935C>A ENST00000313264.4 - 1 802 c.727G>T c.(727-729)Ggc>Tgc p.G243C NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TCGATAGAGCCCACAAAGTAG 0.428000 29 101 9.39395e-14 1.57438e-13 0.116897 1 0 OR5D16 390144 broad.mit.edu 37 11 55606690 55606690 + Missense_Mutation SNP G G T rs143345816 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55606690G>T ENST00000378396.1 + 1 463 c.463G>T c.(463-465)Gtc>Ttc p.V155F NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGCATGGGGAGTCGCATGTTC 0.453000 21 71 8.34094e-07 1.08909e-06 0.049695 1 0 CDH10 1008 broad.mit.edu 37 5 24535332 24535332 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:24535332C>A ENST00000264463.4 - 5 1210 c.703G>T c.(703-705)Gtg>Ttg p.V235L NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 235 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGGATGACCACTTGGTATTGC 0.453000 HNSCC(23;0.051) 13 47 9.31168e-06 1.16749e-05 0.105934 1 0 ENAM 10117 broad.mit.edu 37 4 71510331 71510331 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:71510331C>G ENST00000396073.3 + 9 3469 c.3188C>G c.(3187-3189)gCa>gGa p.A1063G ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1063 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCCAAATTAGCAAAGCATCAC 0.453000 19 95 0 0 0.049695 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55614842 55614842 + Silent SNP C C A rs144418099 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:55614842C>A ENST00000263433.3 - 4 681 c.666G>T c.(664-666)cgG>cgT p.R222R PPP1R12C_ENST00000435544.2_Silent_p.R148R|PPP1R12C_ENST00000376393.2_Silent_p.R222R NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 222 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TGCGGGGGTGCCGGGCCTCTG 0.612000 6 6 0.00198382 0.00218881 0.029380 1 0 TTN 7273 broad.mit.edu 37 2 179575439 179575439 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:179575439C>T ENST00000589042.1 - 98 28609 c.28385G>A c.(28384-28386)gGa>gAa p.G9462E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8218E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9145E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9145 Ig-like 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAGAATCTCCTTTGTCTAC 0.438000 18 84 0 0 0.062417 0 0 MAEL 84944 broad.mit.edu 37 1 166973455 166973455 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:166973455C>A ENST00000367872.4 + 6 806 c.562C>A c.(562-564)Cgt>Agt p.R188S MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R157S NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 188 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 AAATTTTGAACGTGGGCATAA 0.373000 34 77 5.8336e-16 1.04374e-15 0.059317 1 0 OR6W1P 89883 broad.mit.edu 37 7 142759700 142759700 + RNA SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:142759700C>G ENST00000496192.1 - 0 826 NR_002140.1 central_nervous_system(1)|endometrium(2)|lung(1)|skin(1) 5 GTTACCATTGCAGTCACCATG 0.527000 3 9 0 0 0.115264 0 0 OR2M3 127062 broad.mit.edu 37 1 248367278 248367278 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:248367278G>T ENST00000456743.1 + 1 947 c.909G>T c.(907-909)aaG>aaT p.K303N NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) CATTCATGAAGATCTTAGGAA 0.418000 72 141 3.47267e-51 6.92443e-51 0.139131 1 0 GDPGP1 390637 broad.mit.edu 37 15 90784186 90784186 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:90784186C>T ENST00000558017.1 + 4 466 c.46C>T c.(46-48)Ccc>Tcc p.P16S GDPGP1_ENST00000329600.6_Missense_Mutation_p.P16S NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 16 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity TTTGCTGCCTCCCAACAATGA 0.468000 20 52 0 0 0.083992 0 0 OR14J1 442191 broad.mit.edu 37 6 29274621 29274621 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:29274621G>A ENST00000377160.2 + 1 219 c.155G>A c.(154-156)cGt>cAt p.R52H NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GTGGACCGTCGTCTCCATTCC 0.463000 43 163 0 0 0.098360 0 0 PSKH2 85481 broad.mit.edu 37 8 87076366 87076366 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:87076366T>A ENST00000276616.2 - 2 754 c.680A>T c.(679-681)gAg>gTg p.E227V PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 227 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) AGCTATGTACTCTGGGGTCCC 0.453000 4 62 0 0 0.009096 0 0 CDH12 1010 broad.mit.edu 37 5 21802410 21802410 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:21802410G>C ENST00000382254.1 - 10 2208 c.1122C>G c.(1120-1122)agC>agG p.S374R CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S334R|CDH12_ENST00000504376.2_Missense_Mutation_p.S374R NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 374 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CGTCCAGCACGCTGATCTTCA 0.532000 HNSCC(59;0.17) 8 68 0 0 0.058154 0 0 NDST2 8509 broad.mit.edu 37 10 75567205 75567205 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:75567205C>T ENST00000299641.4 - 4 1543 c.573G>A c.(571-573)ttG>ttA p.L191L NDST2_ENST00000309979.6_Silent_p.L314L NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 314 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) CGATGTCTACCAAGATGTAGC 0.478000 15 67 0 0 0.146539 0 0 PCDH17 27253 broad.mit.edu 37 13 58299106 58299106 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:58299106C>T ENST00000377918.3 + 4 3184 c.3158C>T c.(3157-3159)tCc>tTc p.S1053F NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1053 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACAAAAGGCTCCCTGGATGGC 0.547000 16 51 0 0 0.033300 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572217 76572217 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:76572217C>A ENST00000307431.8 + 20 3582 c.3197C>A c.(3196-3198)tCt>tAt p.S1066Y CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1070Y NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1067 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAATACCTTTCTGTGATCATT 0.358000 18 37 1.00905e-13 1.68684e-13 0.049695 1 0 RFTN2 130132 broad.mit.edu 37 2 198508925 198508925 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:198508925G>T ENST00000295049.3 - 3 931 c.395C>A c.(394-396)tCt>tAt p.S132Y NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 132 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 TTGTGCCTCAGAAGTTAGGGG 0.413000 8 34 1.76689e-08 2.52087e-08 0.058154 1 0 USP6NL 9712 broad.mit.edu 37 10 11505366 11505366 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:11505366C>A ENST00000379237.1 - 15 1955 c.1561G>T c.(1561-1563)Ggt>Tgt p.G521C USP6NL_ENST00000277575.5_Missense_Mutation_p.G538C NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 521 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TCGGCAGGACCTGGGACGGTA 0.597000 25 73 9.80776e-20 1.84978e-19 0.116897 1 0 VPS13D 55187 broad.mit.edu 37 1 12445382 12445382 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:12445382G>A ENST00000358136.3 + 59 11564 c.11434G>A c.(11434-11436)Gaa>Aaa p.E3812K VPS13D_ENST00000356315.4_Missense_Mutation_p.E3787K|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3811 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCCTGTCACCGAACAAGAGCT 0.363000 3 50 0 0 0.115264 0 0 OR5L1 219437 broad.mit.edu 37 11 55579086 55579086 + Silent SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55579086G>C ENST00000333973.2 + 1 233 c.144G>C c.(142-144)ctG>ctC p.L48L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGATTGCACTGATTCAGGTCA 0.478000 39 148 0 0 0.086207 0 0 ECEL1 9427 broad.mit.edu 37 2 233345520 233345520 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:233345520A>T ENST00000304546.1 - 16 2269 c.2059T>A c.(2059-2061)Tat>Aat p.Y687N ECEL1_ENST00000409941.1_Missense_Mutation_p.Y685N NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 687 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CACTTCTGATAGGCCTGGGGA 0.617000 5 2 0 0 0.014758 0 0 DIDO1 11083 broad.mit.edu 37 20 61528110 61528110 + Silent SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:61528110T>A ENST00000266070.4 - 7 2152 c.1827A>T c.(1825-1827)tcA>tcT p.S609S DIDO1_ENST00000395340.1_Silent_p.S609S|DIDO1_ENST00000395343.1_Silent_p.S609S|DIDO1_ENST00000395335.2_Silent_p.S609S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 609 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCCTGGCAGCTGAAGCACCAC 0.632000 8 26 0 0 0.047766 0 0 GRHL2 79977 broad.mit.edu 37 8 102570665 102570665 + Missense_Mutation SNP T T A rs140106332 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:102570665T>A ENST00000251808.3 + 4 641 c.303T>A c.(301-303)agT>agA p.S101R GRHL2_ENST00000395927.1_Missense_Mutation_p.S85R NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 101 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGGCACCAGTGAAGCCCAGA 0.453000 26 119 0 0 0.125774 0 0 FAM135B 51059 broad.mit.edu 37 8 139163755 139163755 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:139163755G>T ENST00000395297.1 - 13 3133 c.2963C>A c.(2962-2964)aCt>aAt p.T988N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 988 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATGGGTCACAGTGGGGCACAC 0.493000 HNSCC(54;0.14) 37 68 4.11147e-13 6.82154e-13 0.064281 1 0 FLG2 388698 broad.mit.edu 37 1 152325628 152325628 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:152325628C>A ENST00000388718.5 - 3 4706 c.4634G>T c.(4633-4635)gGa>gTa p.G1545V FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1545 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGTCTGTCCATGAGTAAT 0.488000 81 133 1.26373e-49 2.51228e-49 0.139131 1 0 BNIP3P1 319138 broad.mit.edu 37 14 28733910 28733910 + RNA SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:28733910C>G ENST00000550043.1 + 0 315 GCTGGACGCACAGCATGAGTC 0.478000 9 34 0 0 0.058154 0 0 AMACR 23600 broad.mit.edu 37 5 33989444 33989444 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:33989444C>A ENST00000335606.6 - 5 991 c.903G>T c.(901-903)gaG>gaT p.E301D AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.E286D|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.E301D NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 301 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 GAACAACCTCCTCAAAAGTCA 0.512000 13 114 2.31682e-05 2.835e-05 0.132662 1 0 SCN9A 6335 broad.mit.edu 37 2 167168245 167168245 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:167168245C>A ENST00000375387.4 - 2 362 c.22G>T c.(22-24)Gga>Tga p.G8* SCN9A_ENST00000409435.1_Nonsense_Mutation_p.G8*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.G8*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.G8* Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 8 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCTGAGGTCCTGGGGGAGGC 0.403000 22 80 3.5997e-14 6.15762e-14 0.069288 1 0 COL15A1 1306 broad.mit.edu 37 9 101767203 101767203 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:101767203A>T ENST00000375001.3 + 9 1647 c.1224A>T c.(1222-1224)ttA>ttT p.L408F NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 408 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AAGAGCGTTTAGCAGCAACAG 0.597000 35 143 0 0 0.086207 0 0 UST 10090 broad.mit.edu 37 6 149208153 149208153 + Silent SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:149208153A>T ENST00000367463.4 + 2 382 c.279A>T c.(277-279)ccA>ccT p.P93P NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 93 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ACCATGGACCACCTCCTAGTA 0.368000 25 62 0 0 0.050027 0 0 LPAR2 9170 broad.mit.edu 37 19 19737528 19737528 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:19737528T>C ENST00000542587.1 - 5 1468 c.566A>G c.(565-567)tAt>tGt p.Y189C LPAR2_ENST00000407877.3_Missense_Mutation_p.Y189C|LPAR2_ENST00000586703.1_Missense_Mutation_p.Y189C Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 189 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GACGGCCAAATAGGAGCGGCT 0.657000 3 6 0 0 0.009096 0 0 LAMB1 3912 broad.mit.edu 37 7 107601760 107601760 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:107601760G>T ENST00000393561.1 - 15 2256 c.2072C>A c.(2071-2073)cCt>cAt p.P691H LAMB1_ENST00000222399.6_Missense_Mutation_p.P667H|LAMB1_ENST00000393560.1_Missense_Mutation_p.P667H P07942 LAMB1_HUMAN laminin, beta 1 667 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCGGCCGAGGAAGGACGAC 0.473000 13 42 6.94344e-10 1.05184e-09 0.038395 1 0 NRXN1 9378 broad.mit.edu 37 2 50758512 50758512 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:50758512C>A ENST00000404971.1 - 12 3659 c.2320G>T c.(2320-2322)Gtc>Ttc p.V774F NRXN1_ENST00000401669.2_Missense_Mutation_p.V734F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V726F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.V726F|NRXN1_ENST00000406859.3_Missense_Mutation_p.V734F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V734F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 734 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTATGCATGACTACGGGGAGC 0.463000 7 27 8.12818e-05 9.66043e-05 0.029380 1 0 FMN1 342184 broad.mit.edu 37 15 33446150 33446150 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:33446150C>A ENST00000559047.1 - 1 965 c.966G>T c.(964-966)aaG>aaT p.K322N FMN1_ENST00000320930.7_Missense_Mutation_p.K322N|FMN1_ENST00000561249.1_Missense_Mutation_p.K322N Q68DA7 FMN1_HUMAN formin 1 322 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CAGGTTTCTGCTTGCAAGTCC 0.498000 3 21 0.115264 0.119226 0.115264 1 0 XIRP2 129446 broad.mit.edu 37 2 168102985 168102985 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:168102985C>A ENST00000409195.1 + 9 5172 c.5083C>A c.(5083-5085)Ctt>Att p.L1695I XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1473I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1695I|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1520 actin cytoskeleton organization cell junction actin binding p.L1695F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTATTGTCTTCTTCATGAAAA 0.333000 20 55 1.55795e-14 2.6999e-14 0.062417 1 0 TRBV5-1 28614 broad.mit.edu 37 7 142021269 142021269 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:142021269C>A ENST00000390381.3 + 0 558 CTGGTCGATTCTCAGGGCGCC 0.532000 9 29 5.4927e-09 8.09837e-09 0.047766 1 0 LAMB1 3912 broad.mit.edu 37 7 107601761 107601761 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:107601761G>T ENST00000393561.1 - 15 2255 c.2071C>A c.(2071-2073)Cct>Act p.P691T LAMB1_ENST00000222399.6_Missense_Mutation_p.P667T|LAMB1_ENST00000393560.1_Missense_Mutation_p.P667T P07942 LAMB1_HUMAN laminin, beta 1 667 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCGGCCGAGGAAGGACGACA 0.473000 13 44 9.16793e-09 1.32805e-08 0.033300 1 0 FAM135B 51059 broad.mit.edu 37 8 139164945 139164945 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:139164945C>A ENST00000395297.1 - 13 1943 c.1773G>T c.(1771-1773)ggG>ggT p.G591G NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 591 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTTGCTTAGCCCAGTCCTGT 0.458000 HNSCC(54;0.14) 46 122 1.35964e-18 2.53544e-18 0.139131 1 0 GRB14 2888 broad.mit.edu 37 2 165365355 165365355 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:165365355C>G ENST00000263915.3 - 7 1362 c.824G>C c.(823-825)cGg>cCg p.R275P GRB14_ENST00000543549.1_Missense_Mutation_p.R188P NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 275 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CTGCAAATGCCGCGGTTCCTT 0.323000 9 49 0 0 0.047766 0 0 GPR22 2845 broad.mit.edu 37 7 107115572 107115572 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:107115572C>A ENST00000304402.4 + 3 2410 c.1067C>A c.(1066-1068)gCt>gAt p.A356D COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 356 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TTAGTCATGGCTTATGGAACA 0.313000 12 38 9.31168e-06 1.16749e-05 0.105934 1 0 ALG14 199857 broad.mit.edu 37 1 95530454 95530454 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:95530454G>C ENST00000370205.4 - 2 302 c.256C>G c.(256-258)Cta>Gta p.L86V RP11-313A24.1_ENST00000451611.1_RNA|ALG14_ENST00000495856.1_5'UTR NM_144988.3 NP_659425.1 Q96F25 ALG14_HUMAN ALG14, UDP-N-acetylglucosaminyltransferase subunit 86 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) GCTCGATCTAGTTCAAAAGAA 0.368000 25 111 0 0 0.116897 0 0 PDS5A 23244 broad.mit.edu 37 4 39839659 39839659 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:39839659G>C ENST00000303538.8 - 32 4366 c.3827C>G c.(3826-3828)tCt>tGt p.S1276C NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 1276 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CTGAGATTCAGACTTGGGTCG 0.493000 5 29 0 0 0.021553 0 0 ECHDC3 79746 broad.mit.edu 37 10 11797576 11797576 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:11797576G>T ENST00000379215.4 + 4 771 c.560G>T c.(559-561)gGg>gTg p.G187V ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969.2 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 187 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 TCTACCCCTGGGGTTGCCTTG 0.592000 6 16 5.4927e-09 8.09837e-09 0.047766 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291494 141291494 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:141291494C>G ENST00000247452.3 - 3 627 c.280G>C c.(280-282)Ggt>Cgt p.G94R NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 94 Ser-rich. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) tgggaaggaccctgtggagga 0.557000 HNSCC(46;0.14) 19 63 0 0 0.043863 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130460824 130460824 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:130460824G>T ENST00000529410.1 + 25 2748 c.2269G>T c.(2269-2271)Ggc>Tgc p.G757C L3MBTL3_ENST00000526019.1_Missense_Mutation_p.G732C|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.G757C|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.G757C|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.G732C|RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.G732C Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 757 SAM. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.I748_G757del(1) cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CATTAAACTGGGCCCTGCTCT 0.358000 9 20 0.0581538 0.060818 0.058154 1 0 PRRC2C 23215 broad.mit.edu 37 1 171509980 171509980 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:171509980C>T ENST00000367742.3 + 16 3617 c.3375C>T c.(3373-3375)aaC>aaT p.N1125N PRRC2C_ENST00000338920.4_Silent_p.N1123N|PRRC2C_ENST00000426496.2_Silent_p.N1123N|PRRC2C_ENST00000392078.3_Silent_p.N1125N Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1123 protein C-terminus binding AGACTGTAAACCAACAGACTA 0.448000 12 47 0 0 0.105934 0 0 LMO7 4008 broad.mit.edu 37 13 76414562 76414562 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:76414562G>T ENST00000357063.3 + 23 4929 c.3669G>T c.(3667-3669)tgG>tgT p.W1223C LMO7_ENST00000377534.3_Missense_Mutation_p.W1223C|LMO7_ENST00000526202.1_Missense_Mutation_p.W815C|LMO7_ENST00000321797.8_Missense_Mutation_p.W938C|LMO7_ENST00000465261.2_Missense_Mutation_p.W938C|LMO7_ENST00000341547.4_Missense_Mutation_p.W889C Q8WWI1 LMO7_HUMAN LIM domain 7 1223 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CGAGTCGCTGGGTGTGGGATC 0.527000 8 30 4.68919e-08 6.53525e-08 0.069234 1 0 PTPRD 5789 broad.mit.edu 37 9 8500934 8500934 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:8500934T>G ENST00000381196.4 - 21 2491 c.1948A>C c.(1948-1950)Act>Cct p.T650P PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T650P|PTPRD_ENST00000360074.4_Missense_Mutation_p.T637P|PTPRD_ENST00000540109.1_Missense_Mutation_p.T650P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T637P NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 650 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCCACTGCAGTGTACTTGATG 0.438000 TSP Lung(15;0.13) 22 90 0 0 0.099896 0 0 DDR2 4921 broad.mit.edu 37 1 162745633 162745633 + Splice_Site SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:162745633G>C ENST00000367922.2 + 16 2486 c.2048_splice c.e16+1 p.S683_splice DDR2_ENST00000367921.3_Splice_Site_p.S683_splice NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 683 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CGCACTGTCAGGTAAACAAGC 0.478000 57 87 0 0 0.139131 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233451 56233451 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:56233451G>T ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA CGAGAAGAACGTGAAGAAAAA 0.507000 3 10 0.00909568 0.00971184 0.009096 1 0 CCDC180 100499483 broad.mit.edu 37 9 100136836 100136836 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:100136836C>T ENST00000375202.2 + 49 6096 c.4744C>T c.(4744-4746)Ccc>Tcc p.P1582S CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.P1582S|CCDC180_ENST00000357054.1_Missense_Mutation_p.P1527S|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 GATGGAGCCCCCCAAACAGAA 0.517000 5 24 0 0 0.021553 0 0 IQGAP1 8826 broad.mit.edu 37 15 91035818 91035818 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:91035818C>T ENST00000268182.5 + 35 4627 c.4503C>T c.(4501-4503)gcC>gcT p.A1501A IQGAP1_ENST00000560738.1_Silent_p.A929A NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1501 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GGAGAAAGGCCGAACTAGTGA 0.403000 9 70 0 0 0.080935 0 0 XIST 7503 broad.mit.edu 37 X 73062373 73062373 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:73062373C>A ENST00000429829.1 - 0 10215 NR_001564.2 TAGTTCAGGCCTGCTTTTCAT 0.398000 3 2 0.00024832 0.0002884 0.009096 1 0 PXDNL 137902 broad.mit.edu 37 8 52366079 52366079 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:52366079C>A ENST00000356297.4 - 10 1349 c.1249_splice c.e10+1 p.A417_splice PXDNL_ENST00000543296.1_Splice_Site_p.A417_splice NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 417 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTCCCATACCTTGTACAATT 0.393000 4 24 5.9392e-07 7.8166e-07 0.021553 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502493 90502493 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:90502493G>A ENST00000325643.5 + 4 3157 c.3091G>A c.(3091-3093)Gat>Aat p.D1031N NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AAGGGCTGAAGATGCCCTGCA 0.592000 15 43 0 0 0.132662 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101811 46101811 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:46101811G>T ENST00000391617.1 - 1 267 c.228C>A c.(226-228)tgC>tgA p.C76* TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 76 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 AGGAAGGCTGGCAGCACCCAG 0.647000 12 19 1.56452e-12 2.55102e-12 0.043863 1 0 THBS4 7060 broad.mit.edu 37 5 79366218 79366218 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:79366218C>A ENST00000350881.2 + 11 1627 c.1437C>A c.(1435-1437)gcC>gcA p.A479A THBS4_ENST00000511733.1_Silent_p.A388A|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 479 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CATGCTCTGCCAGGAACTGTA 0.517000 12 41 2.27111e-07 3.07459e-07 0.093190 1 0 PIK3C3 5289 broad.mit.edu 37 18 39609346 39609346 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:39609346G>A ENST00000262039.4 + 15 1734 c.1648G>A c.(1648-1650)Gat>Aat p.D550N PIK3C3_ENST00000593098.1_Missense_Mutation_p.D35N|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D487N NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 550 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GACATTTGTAGATCGGTTGGT 0.408000 TSP Lung(28;0.18) 10 38 0 0 0.069234 0 0 GTF2H2C 728340 broad.mit.edu 37 5 68875649 68875649 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:68875649C>G ENST00000510979.1 + 11 910 c.715C>G c.(715-717)Cct>Gct p.P239A GTF2H2C_ENST00000380729.3_Missense_Mutation_p.P239A|GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.P182A NM_001098728.1 NP_001092198.1 Q6P1K8 T2H2L_HUMAN general transcription factor IIH, polypeptide 2C 239 DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(1)|lung(1) 2 TCTTAGTCCTCCTCCTGCTAG 0.353000 4 147 0 0 0.014758 0 0 KDR 3791 broad.mit.edu 37 4 55972029 55972029 + Missense_Mutation SNP C C T rs55716939 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:55972029C>T ENST00000263923.4 - 12 1910 c.1615G>A c.(1615-1617)Gga>Aga p.G539R NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 539 Ig-like C2-type 5. G -> R (in dbSNP:rs55716939). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACCCTCTCTCCTCTCCCGACT 0.473000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 69 265 0 0 0.139131 0 0 COL3A1 1281 broad.mit.edu 37 2 189875505 189875505 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:189875505G>T ENST00000304636.3 + 50 4313 c.4143G>T c.(4141-4143)caG>caT p.Q1381H COL3A1_ENST00000317840.5_Missense_Mutation_p.Q1078H NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1381 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACATGGATCAGGCCAGTGGAA 0.458000 11 23 0.000673444 0.00076339 0.069234 1 0 MAGEB10 139422 broad.mit.edu 37 X 27840394 27840394 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:27840394C>A ENST00000356790.2 + 3 1216 c.971C>A c.(970-972)gCc>gAc p.A324D NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 324 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 AGAGTTGCAGCCAAGGCTCGC 0.488000 3 4 3.59834e-05 4.35484e-05 0.021553 1 0 OR4C16 219428 broad.mit.edu 37 11 55340087 55340087 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:55340087C>A ENST00000314634.3 + 1 484 c.484C>A c.(484-486)Ctg>Atg p.L162M NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L162M(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTTTCTTGCCCTGAGTTTGCC 0.473000 28 82 4.43304e-23 8.63138e-23 0.116897 1 0 OR6W1P 89883 broad.mit.edu 37 7 142760166 142760166 + RNA SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:142760166G>C ENST00000496192.1 - 0 360 NR_002140.1 central_nervous_system(1)|endometrium(2)|lung(1)|skin(1) 5 AGATGGCCACGTAGCGATCAA 0.547000 3 11 0 0 0.014758 0 0 ENG 2022 broad.mit.edu 37 9 130587196 130587196 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:130587196G>T ENST00000344849.3 - 7 1154 c.874C>A c.(874-876)Ctc>Atc p.L292I ENG_ENST00000373203.4_Missense_Mutation_p.L292I|ENG_ENST00000480266.1_5'UTR P17813 EGLN_HUMAN endoglin 292 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GTGTCTGGGAGCTTGAAGCCA 0.557000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 5 28 8.12818e-05 9.66043e-05 0.029380 1 0 ZNF618 114991 broad.mit.edu 37 9 116731397 116731397 + Splice_Site SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:116731397G>T ENST00000288466.7 + 2 133 c.33_splice c.e2-1 p.A12_splice ZNF618_ENST00000374126.5_Splice_Site_p.A12_splice NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TCTTTTGCAGGCTGACGGAGC 0.557000 15 30 2.62699e-14 4.50535e-14 0.132662 1 0 OR4D1 26689 broad.mit.edu 37 17 56232771 56232771 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:56232771T>G ENST00000268912.5 + 1 278 c.257T>G c.(256-258)cTc>cGc p.L86R NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 GTGGACTTCCTCCATGAGACC 0.517000 35 129 0 0 0.117977 0 0 SMPD4 55627 broad.mit.edu 37 2 130911008 130911008 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:130911008G>A ENST00000409031.1 - 18 3174 c.2026C>T c.(2026-2028)Ctc>Ttc p.L676F SMPD4_ENST00000431183.2_Missense_Mutation_p.L574F|SMPD4_ENST00000453750.1_Missense_Mutation_p.L425F|SMPD4_ENST00000351288.6_Missense_Mutation_p.L647F|SMPD4_ENST00000339679.7_Missense_Mutation_p.L534F|SMPD4_ENST00000452225.2_Missense_Mutation_p.L417F|SMPD4_ENST00000443958.2_Missense_Mutation_p.L340F|SMPD4_ENST00000426662.2_Missense_Mutation_p.L312F NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 637 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AACTGCCTGAGCTGCGCTTCG 0.572000 4 9 0 0 0.014758 0 0 ITGA8 8516 broad.mit.edu 37 10 15714633 15714633 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:15714633G>A ENST00000378076.3 - 7 1145 c.792C>T c.(790-792)gaC>gaT p.D264D NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 264 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CAAGGTAACTGTCATCATAGG 0.418000 15 81 0 0 0.146539 0 0 PARG 8505 broad.mit.edu 37 10 51130443 51130443 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:51130443C>A ENST00000402038.3 - 2 145 c.146G>T c.(145-147)aGc>aTc p.S49I NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 534 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) CTCCCACCGGCTCCCCGCAGT 0.423000 8 14 0.00448238 0.00491281 0.047766 1 0 SLC25A36 55186 broad.mit.edu 37 3 140678316 140678316 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:140678316A>G ENST00000446041.2 + 3 443 c.218A>G c.(217-219)gAa>gGa p.E73G SLC25A36_ENST00000453248.2_Intron|SLC25A36_ENST00000507429.1_Missense_Mutation_p.E73G|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000324194.6_Missense_Mutation_p.E73G NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 73 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GTGATCTTGGAAAAAGAAGGG 0.343000 3 7 0 0 0.115264 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 5 47 0 0 0.029380 0 0 ZNF438 220929 broad.mit.edu 37 10 31134132 31134132 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:31134132C>A ENST00000538351.1 - 8 2852 c.2098G>T c.(2098-2100)Gga>Tga p.G700* ZNF438_ENST00000413025.1_Nonsense_Mutation_p.G749*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.G313*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.G749*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.G749*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.G739*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.G739*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.G749*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.G739* NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TTGTTGGTTCCTGACTGGGGT 0.532000 28 64 1.32181e-22 2.55113e-22 0.125774 1 0 LRP1B 53353 broad.mit.edu 37 2 141819716 141819716 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:141819716G>T ENST00000389484.3 - 8 2111 c.1140C>A c.(1138-1140)gtC>gtA p.V380V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 380 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAATTTGTTGACTAGGTCTA 0.433000 TSP Lung(27;0.18) 14 72 2.31682e-05 2.835e-05 0.132662 1 0 AP1B1 162 broad.mit.edu 37 22 29735017 29735017 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr22:29735017C>A ENST00000357586.2 - 16 2311 c.2125G>T c.(2125-2127)Gtg>Ttg p.V709L AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.V702L|AP1B1_ENST00000356015.2_Missense_Mutation_p.V702L|AP1B1_ENST00000432560.2_Missense_Mutation_p.V702L|AP1B1_ENST00000415447.1_Missense_Mutation_p.V702L|AP1B1_ENST00000405198.1_Missense_Mutation_p.V709L|AP1B1_ENST00000402502.1_Missense_Mutation_p.V702L NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 709 Pro-rich (stalk region). endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGGGTGCCCACGCCACTGGTC 0.572000 11 50 0.00185496 0.00206384 0.105934 1 0 MUC16 94025 broad.mit.edu 37 19 9006659 9006659 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:9006659T>A ENST00000397910.4 - 44 39792 c.39589A>T c.(39589-39591)Agt>Tgt p.S13197C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13199 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCAGAACACTCTCCGTGATG 0.517000 126 405 0 0 0.139131 0 0 THSD7B 80731 broad.mit.edu 37 2 138378217 138378217 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:138378217C>A ENST00000409968.1 + 20 3898 c.3720C>A c.(3718-3720)tgC>tgA p.C1240* THSD7B_ENST00000413152.2_Nonsense_Mutation_p.C1212*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.C1243*|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCATTCCCTGCTTGGTGGAAT 0.468000 37 149 1.15505e-17 2.12992e-17 0.111260 1 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 76 0 0 0.009096 0 0 CENPK 64105 broad.mit.edu 37 5 64824356 64824356 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:64824356C>A ENST00000396679.1 - 9 734 c.520G>T c.(520-522)Gag>Tag p.E174* CENPK_ENST00000242872.3_Nonsense_Mutation_p.E174*|CENPK_ENST00000514814.1_Nonsense_Mutation_p.E174*|CENPK_ENST00000510693.1_Nonsense_Mutation_p.E111*|CENPK_ENST00000508421.1_Nonsense_Mutation_p.E144*|CENPK_ENST00000506282.2_5'UTR NM_022145.4 NP_071428.2 Q9BS16 CENPK_HUMAN centromere protein K 174 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|endometrium(1)|large_intestine(3)|lung(5) 10 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) AAGAGTTTCTCCTTATATTCT 0.279000 6 23 2.7689e-08 3.9335e-08 0.029380 1 0 DYSF 8291 broad.mit.edu 37 2 71747322 71747322 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:71747322C>A ENST00000258104.3 + 10 1198 c.921C>A c.(919-921)acC>acA p.T307T DYSF_ENST00000410041.1_Silent_p.T339T|DYSF_ENST00000409366.1_Silent_p.T308T|DYSF_ENST00000394120.2_Silent_p.T308T|DYSF_ENST00000413539.2_Silent_p.T338T|DYSF_ENST00000409651.1_Silent_p.T339T|DYSF_ENST00000409762.1_Silent_p.T338T|DYSF_ENST00000409744.1_Silent_p.T308T|DYSF_ENST00000409582.3_Silent_p.T338T|DYSF_ENST00000429174.2_Silent_p.T307T|DYSF_ENST00000410020.3_Silent_p.T339T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 307 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACGTGGGCACCATTTACAGAG 0.468000 20 105 6.33239e-15 1.10317e-14 0.055883 1 0 KCNAB2 8514 broad.mit.edu 37 1 6147572 6147572 + Splice_Site SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:6147572G>T ENST00000164247.1 + 8 935 c.e8+1 KCNAB2_ENST00000352527.1_Splice_Site|KCNAB2_ENST00000458166.2_Splice_Site|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Splice_Site|KCNAB2_ENST00000378097.1_Splice_Site|KCNAB2_ENST00000341524.1_Splice_Site|KCNAB2_ENST00000602612.1_Splice_Site|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Splice_Site NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) GGGGCGGAAAGTAGGTGCAAC 0.652000 3 20 0.00024832 0.0002884 0.009096 1 0 CDH26 60437 broad.mit.edu 37 20 58559833 58559833 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:58559833A>G ENST00000348616.4 + 6 981 c.681A>G c.(679-681)atA>atG p.I227M CDH26_ENST00000244047.5_Missense_Mutation_p.I227M NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 227 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GTGGAGAAATACGACTCTCTG 0.388000 11 41 0 0 0.105934 0 0 XRN1 54464 broad.mit.edu 37 3 142090172 142090172 + Splice_Site SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:142090172T>A ENST00000264951.4 - 26 3096 c.e26-2 XRN1_ENST00000392981.2_Splice_Site NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCTGGAGCTCTGGTCAAACAA 0.313000 9 20 0 0 0.080935 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044210 90044210 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:90044210G>T ENST00000462693.1 + 0 161 ATCTCCTTCAGGTCTAGTCAA 0.507000 32 101 4.65686e-17 8.49268e-17 0.064281 1 0 MKNK1 8569 broad.mit.edu 37 1 47037778 47037778 + Silent SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:47037778C>G ENST00000371946.4 - 7 613 c.450G>C c.(448-450)gtG>gtC p.V150V MKNK1_ENST00000341183.5_Silent_p.V150V|MKNK1_ENST00000371944.4_Silent_p.V55V|MKNK1_ENST00000371945.4_Silent_p.V150V|MKNK1_ENST00000428112.2_Silent_p.V150V NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 150 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) CGTCCCGCACCACTCGGCTGG 0.567000 5 30 0 0 0.014758 0 0 CAPN7 23473 broad.mit.edu 37 3 15282982 15282982 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:15282982C>T ENST00000253693.2 + 15 1928 c.1675C>T c.(1675-1677)Cct>Tct p.P559S NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 559 Domain III. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 TAAGCAAGGACCTGTGAAAGA 0.413000 16 42 0 0 0.038395 0 0 RASL12 51285 broad.mit.edu 37 15 65347321 65347321 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:65347321C>A ENST00000220062.4 - 5 993 c.717G>T c.(715-717)aaG>aaT p.K239N RASL12_ENST00000434605.2_Missense_Mutation_p.K228N|RASL12_ENST00000421977.3_Missense_Mutation_p.K220N NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 239 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CGGTGACCAGCTTGGCCTGGG 0.647000 OREG0023189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0.00909568 0.00971184 0.009096 1 0 DNMT3A 1788 broad.mit.edu 37 2 25463556 25463556 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:25463556G>A ENST00000264709.3 - 18 2463 c.2126C>T c.(2125-2127)cCc>cTc p.P709L DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P520L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P709L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P486L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 709 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCATTGCAGGGACTGCCCCC 0.597000 """Mis, F, N, S""" AML 14 86 0 0 0.033300 0 0 ASH1L 55870 broad.mit.edu 37 1 155327184 155327184 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:155327184C>T ENST00000368346.3 - 15 7632 c.6993G>A c.(6991-6993)gaG>gaA p.E2331E ASH1L_ENST00000392403.3_Silent_p.E2326E Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2331 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CACTGGGTTCCTCAGAGAGAT 0.368000 12 86 0 0 0.105934 0 0 DNAH11 8701 broad.mit.edu 37 7 21813389 21813389 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:21813389G>T ENST00000328843.6 + 57 9160 c.9129G>T c.(9127-9129)gtG>gtT p.V3043V DNAH11_ENST00000409508.3_Silent_p.V3036V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3043 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTCAGCCAGTGCACAAAGACT 0.318000 Kartagener syndrome 5 28 0.00116845 0.00130661 0.021553 1 0 ITGAM 3684 broad.mit.edu 37 16 31289293 31289293 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:31289293G>A ENST00000544665.3 + 12 1290 c.1219G>A c.(1219-1221)Gct>Act p.A407T ITGAM_ENST00000287497.8_Missense_Mutation_p.A407T NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 407 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TTCAGGTTATGCTGCCGCCAT 0.612000 8 11 0 0 0.047766 0 0 P2RY10 27334 broad.mit.edu 37 X 78216603 78216603 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:78216603G>C ENST00000171757.2 + 4 866 c.586G>C c.(586-588)Gtc>Ctc p.V196L P2RY10_ENST00000544091.1_Missense_Mutation_p.V196L NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 196 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 AGTTGCGTTGGTCGGGATGAT 0.458000 54 59 0 0 0.139131 0 0 TKTL1 8277 broad.mit.edu 37 X 153539221 153539221 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:153539221T>C ENST00000369915.3 + 4 574 c.385T>C c.(385-387)Tcc>Ccc p.S129P TKTL1_ENST00000369912.2_Missense_Mutation_p.S73P|TKTL1_ENST00000217905.7_Intron NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 129 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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) TGATGGCGAGTCCTCAGAAGG 0.532000 13 45 0 0 0.119110 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77356279 77356279 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:77356279G>T ENST00000282849.5 - 14 2535 c.2117C>A c.(2116-2118)cCc>cAc p.P706H NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 706 Cys-rich. 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 TGGGGAGCAGGGAGTTCCATC 0.393000 13 68 1.52009e-12 2.49084e-12 0.132662 1 0 SREK1IP1 285672 broad.mit.edu 37 5 64020382 64020382 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:64020382G>A ENST00000513458.4 - 5 464 c.297C>T c.(295-297)tcC>tcT p.S99S NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 99 Lys-rich. mRNA processing|RNA splicing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 CCTCTTCAGTGGAACTGGATG 0.294000 7 50 0 0 0.038147 0 0 CPQ 10404 broad.mit.edu 37 8 98078430 98078430 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:98078430G>T ENST00000220763.5 + 7 1457 c.1247G>T c.(1246-1248)gGa>gTa p.G416V CPQ_ENST00000529551.1_3'UTR NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 416 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity ATCCAAGCTGGAGTGCCTGGT 0.418000 22 72 1.55469e-16 2.81204e-16 0.083992 1 0 DHX35 60625 broad.mit.edu 37 20 37639012 37639012 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:37639012G>A ENST00000252011.3 + 13 1345 c.1312G>A c.(1312-1314)Gga>Aga p.G438R DHX35_ENST00000373323.4_Missense_Mutation_p.G407R|DHX35_ENST00000373325.2_Missense_Mutation_p.G438R NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 438 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GAAAGCACTAGGAATTGACAA 0.532000 4 33 0 0 0.014758 0 0 RP1L1 94137 broad.mit.edu 37 8 10480614 10480614 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:10480614G>T ENST00000382483.3 - 2 321 c.98C>A c.(97-99)gCc>gAc p.A33D RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 33 intracellular signal transduction p.A33D(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GATCTTCTTGGCTGGCGTGAC 0.642000 8 24 0.000442599 0.000506046 0.058154 1 0 GMDS 2762 broad.mit.edu 37 6 1726733 1726733 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:1726733T>G ENST00000380815.4 - 9 1173 c.904A>C c.(904-906)Aat>Cat p.N302H GMDS_ENST00000530927.1_Missense_Mutation_p.N272H NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 302 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TCATTTTCATTCTTTCCTTCC 0.493000 7 132 0 0 0.038147 0 0 SEPT6 23157 broad.mit.edu 37 X 118774740 118774740 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:118774740C>A ENST00000394610.1 - 6 966 c.702G>T c.(700-702)ccG>ccT p.P234P SEPT6_ENST00000343984.5_Silent_p.P234P|SEPT6_ENST00000394617.2_Silent_p.P264P|SEPT6_ENST00000360156.7_Silent_p.P234P|SEPT6_ENST00000394616.4_Silent_p.P176P|SEPT6_ENST00000354416.3_Silent_p.P234P|SEPT6_ENST00000354228.4_Silent_p.P234P|SEPT6_ENST00000489216.1_Silent_p.P234P NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 234 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TGACAGCAAACGGCAGGTGGG 0.552000 T MLL AML 14 41 5.03518e-11 7.95535e-11 0.043863 1 0 COL5A1 1289 broad.mit.edu 37 9 137622275 137622275 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:137622275G>T ENST00000371817.3 + 7 1532 c.1118G>T c.(1117-1119)gGg>gTg p.G373V NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 373 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAGGCGCTGGGGCCGAAATT 0.607000 5 34 2.0095e-06 2.58308e-06 0.029380 1 0 STAT3 6774 broad.mit.edu 37 17 40481576 40481576 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:40481576T>C ENST00000264657.5 - 13 1541 c.1229A>G c.(1228-1230)cAc>cGc p.H410R STAT3_ENST00000389272.3_Missense_Mutation_p.H312R|STAT3_ENST00000585517.1_Missense_Mutation_p.H410R|STAT3_ENST00000404395.3_Missense_Mutation_p.H410R|STAT3_ENST00000588969.1_Missense_Mutation_p.H410R NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 410 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ACATACCAAGTGTTTGAATTC 0.498000 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 35 0 0 0.058154 0 0 NKX3-1 4824 broad.mit.edu 37 8 23538980 23538980 + Silent SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:23538980T>C ENST00000380871.4 - 2 496 c.459A>G c.(457-459)gaA>gaG p.E153E NKX3-1_ENST00000523261.1_Silent_p.E78E NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 153 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) GGTGGGCCCGTTCAGGGGCCG 0.567000 20 70 0 0 0.062417 0 0 OR6C6 283365 broad.mit.edu 37 12 55688318 55688318 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:55688318G>C ENST00000358433.2 - 1 698 c.699C>G c.(697-699)aaC>aaG p.N233K NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAAATGCTTTGTTCCTTTGCT 0.388000 21 46 0 0 0.062417 0 0 SERPINB2 5055 broad.mit.edu 37 18 61558715 61558715 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:61558715C>A ENST00000457692.1 + 3 370 c.37C>A c.(37-39)Ctc>Atc p.L13I SERPINB2_ENST00000299502.4_Missense_Mutation_p.L13I NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 13 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ACTCTTTGCCCTCAATTTATT 0.458000 20 86 1.2644e-06 1.64447e-06 0.055883 1 0 RPL3L 6123 broad.mit.edu 37 16 2002894 2002894 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:2002894G>A ENST00000268661.7 - 3 440 c.346C>T c.(346-348)Cgc>Tgc p.R116C NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 116 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 TAGAATCGGCGCCGGCACTCA 0.627000 3 18 0 0 0.115264 0 0 CHGB 1114 broad.mit.edu 37 20 5904628 5904628 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:5904628A>G ENST00000378961.4 + 4 2042 c.1838A>G c.(1837-1839)tAc>tGc p.Y613C NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 613 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CTCCTTCACTACAGGAAGAAG 0.537000 9 49 0 0 0.047766 0 0 HFM1 164045 broad.mit.edu 37 1 91851361 91851361 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:91851361C>A ENST00000370425.3 - 5 623 c.525G>T c.(523-525)ggG>ggT p.G175G HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 175 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AATAAGCACTCCCATGTATAT 0.323000 6 32 5.18039e-06 6.59504e-06 0.038147 1 0 ACTR8 93973 broad.mit.edu 37 3 53911340 53911340 + Silent SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:53911340T>A ENST00000335754.3 - 5 685 c.585A>T c.(583-585)ccA>ccT p.P195P ACTR8_ENST00000482349.1_Silent_p.P84P NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 195 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CCCCAGGGCCTGGGTGAATAT 0.423000 15 28 0 0 0.146539 0 0 RXRG 6258 broad.mit.edu 37 1 165376126 165376126 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:165376126C>G ENST00000359842.5 - 9 1469 c.1167G>C c.(1165-1167)gaG>gaC p.E389D NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 389 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GAGTCTCCACCTCAGAGGGGT 0.547000 13 102 0 0 0.105934 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2024090 2024090 + Nonsense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:2024090C>T ENST00000382722.5 - 2 601 c.239G>A c.(238-240)tGg>tAg p.W80* CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W16*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W80*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W16*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W80*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.W80* NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 80 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGTGTCAGCCCATAGCTTCAC 0.522000 7 38 0 0 0.047766 0 0 NDN 4692 broad.mit.edu 37 15 23932081 23932081 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:23932081G>A ENST00000331837.4 - 1 369 c.284C>T c.(283-285)cCg>cTg p.P95L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 95 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CAGCTGCGCCGGGGCTGGCGG 0.677000 Prader-Willi syndrome 7 8 0 0 0.029380 0 0 ZNF165 7718 broad.mit.edu 37 6 28053589 28053589 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:28053589G>T ENST00000377325.1 + 2 887 c.331G>T c.(331-333)Gaa>Taa p.E111* NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 111 SCAN box. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGGGTACATGAACATTACCC 0.522000 7 26 0.0293803 0.030775 0.029380 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951699 130951699 + Missense_Mutation SNP G G C rs148691540 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:130951699G>C ENST00000312988.7 - 4 816 c.716C>G c.(715-717)aCg>aGg p.T239R NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 239 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) CAGGGAGGCCGTGATGGAGGA 0.567000 15 70 0 0 0.132662 0 0 TRPM6 140803 broad.mit.edu 37 9 77353447 77353447 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:77353447C>A ENST00000451710.3 - 35 5901 c.5664G>T c.(5662-5664)cgG>cgT p.R1888R TRPM6_ENST00000376871.3_Silent_p.R721R|TRPM6_ENST00000376872.3_Silent_p.R839R|TRPM6_ENST00000361255.3_Silent_p.R1879R|TRPM6_ENST00000360774.1_Silent_p.R1884R|TRPM6_ENST00000449912.2_Silent_p.R1879R|TRPM6_ENST00000376864.4_Silent_p.R1888R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1884 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGTTATACTTCCGGAACTCCC 0.478000 8 44 2.17888e-05 2.68107e-05 0.058154 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51961204 51961204 + Silent SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:51961204C>G ENST00000321424.3 - 1 504 c.438G>C c.(436-438)ctG>ctC p.L146L SIGLEC8_ENST00000430817.1_Silent_p.L146L|SIGLEC8_ENST00000340550.5_Silent_p.L146L NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 146 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAAACACAGACAGCTGCTTAG 0.532000 19 89 0 0 0.055883 0 0 PARD3B 117583 broad.mit.edu 37 2 206265804 206265804 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:206265804C>T ENST00000406610.2 + 19 2905 c.2698C>T c.(2698-2700)Ctg>Ttg p.L900L PARD3B_ENST00000351153.1_Silent_p.L831L|PARD3B_ENST00000358768.2_Silent_p.L838L|PARD3B_ENST00000349953.3_Silent_p.L900L NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 900 GTLKHGGLR -> WLINFVLIW (in Ref. 4; BAB71623). cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACATGGTGGCCTGAGAGAAGA 0.433000 4 24 0 0 0.014758 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619881 28619881 + Silent SNP A A G rs146871724 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:28619881A>G ENST00000395609.1 - 5 950 c.192T>C c.(190-192)ggT>ggC p.G64G SULT1A1_ENST00000395607.1_Silent_p.G64G|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.G64G|SULT1A1_ENST00000314752.7_Silent_p.G64G P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 64 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 CCAGGTCACCACCCTGGTAGA 0.592000 9 23 0 0 0.047766 0 0 BRCA1 672 broad.mit.edu 37 17 41244214 41244214 + Nonsense_Mutation SNP C C A rs80357701 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:41244214C>A ENST00000309486.4 - 9 3473 c.2446G>T c.(2446-2448)Gaa>Taa p.E816* BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1065*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1112*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1112* NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1112 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTCATATTCTTGCTTTTTT 0.353000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 19 71 2.94398e-08 4.16435e-08 0.043863 1 0 CHRM2 1129 broad.mit.edu 37 7 136700781 136700781 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:136700781T>G ENST00000445907.2 + 3 1697 c.1169T>G c.(1168-1170)tTg>tGg p.L390W CHRM2_ENST00000402486.3_Missense_Mutation_p.L390W|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L390W|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L390W|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L390W|CHRM2_ENST00000453373.1_Missense_Mutation_p.L390W|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 390 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AGGACAATCTTGGCTATTCTG 0.468000 4 112 0 0 0.021553 0 0 OR52A1 23538 broad.mit.edu 37 11 5173456 5173456 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:5173456C>T ENST00000380367.1 - 2 561 c.144G>A c.(142-144)ctG>ctA p.L48L OR52A1_ENST00000328942.1_Silent_p.L48L Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 48 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATGATGCTCAGAAGCAAGG 0.463000 12 33 0 0 0.093190 0 0 CCDC15 80071 broad.mit.edu 37 11 124857980 124857980 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:124857980C>G ENST00000529051.1 + 8 2117 c.1858C>G c.(1858-1860)Cag>Gag p.Q620E CCDC15_ENST00000344762.5_Missense_Mutation_p.Q620E Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 620 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CTCCAACGACCAGAATATTCT 0.398000 38 172 0 0 0.098360 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432054 117432054 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:117432054G>T ENST00000160373.3 - 4 1287 c.1196C>A c.(1195-1197)cCc>cAc p.P399H NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 399 Pro-rich. p.P399L(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGGAAGTGGGGGTGTGCTACT 0.527000 31 114 2.20474e-14 3.80087e-14 0.064281 1 0 HMCN1 83872 broad.mit.edu 37 1 186064378 186064378 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:186064378C>A ENST00000271588.4 + 68 10527 c.10298C>A c.(10297-10299)cCa>cAa p.P3433Q HMCN1_ENST00000367492.2_Missense_Mutation_p.P3433Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3433 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 TATGTAGCACCACCAAATATG 0.368000 13 55 2.27111e-07 3.07459e-07 0.093190 1 0 CRHR1 1394 broad.mit.edu 37 17 43907806 43907806 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:43907806C>A ENST00000314537.5 + 7 804 c.579C>A c.(577-579)gcC>gcA p.A193A CRHR1_ENST00000577353.1_Silent_p.A193A|CRHR1_ENST00000398285.3_Silent_p.A222A|CRHR1_ENST00000352855.5_Silent_p.A153A|CRHR1_ENST00000339069.5_Silent_p.A92A|CRHR1_ENST00000293493.7_Silent_p.A18A NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 222 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGGTGACAGCCGCCTACAACT 0.632000 5 16 2.0095e-06 2.58308e-06 0.029380 1 0 GPR112 139378 broad.mit.edu 37 X 135427080 135427080 + Silent SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:135427080A>C ENST00000394143.1 + 6 1506 c.1215A>C c.(1213-1215)tcA>tcC p.S405S GPR112_ENST00000412101.1_Silent_p.S200S|GPR112_ENST00000394141.1_Silent_p.S200S|GPR112_ENST00000287534.4_Silent_p.S342S|GPR112_ENST00000370652.1_Silent_p.S405S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 405 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTTATTTTCAACTATTGAGT 0.393000 108 241 0 0 0.139131 0 0 LOC100506136 100506136 broad.mit.edu 37 7 96251856 96251856 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:96251856C>A ENST00000606019.1 - 0 689 NR_038948.1 GGGCTTGGTACCTTTGCCTTC 0.433000 7 33 0.000274275 0.000315226 0.047766 1 0 NR0B1 190 broad.mit.edu 37 X 30326995 30326995 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:30326995C>T ENST00000378970.4 - 1 720 c.486G>A c.(484-486)gcG>gcA p.A162A NR0B1_ENST00000453287.1_Silent_p.A162A NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 162 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GTGCCTCGGGCGCTGCCGGAG 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 0 0 0.014758 0 0 FAM19A2 338811 broad.mit.edu 37 12 62148788 62148788 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:62148788C>A ENST00000416284.3 - 3 1708 c.124G>T c.(124-126)Gga>Tga p.G42* FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.G42*|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 42 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TCACAAGTTCCCGTTTTAACA 0.448000 25 13 3.73988e-18 6.93502e-18 0.116897 1 0 CAPSL 133690 broad.mit.edu 37 5 35921095 35921095 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:35921095C>A ENST00000397367.2 - 2 254 c.128G>T c.(127-129)gGa>gTa p.G43V CAPSL_ENST00000397366.1_Missense_Mutation_p.G43V|CAPSL_ENST00000514524.1_Missense_Mutation_p.G43V NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 43 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CCTGCCAAGTCCTTTGATCCC 0.587000 25 140 8.58068e-18 1.58671e-17 0.125774 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881496 228881496 + Silent SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:228881496A>G ENST00000392056.3 - 7 4120 c.4074T>C c.(4072-4074)agT>agC p.S1358S SPHKAP_ENST00000344657.5_Silent_p.S1358S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1358 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAGTTGGCCCACTGCACATCC 0.512000 6 30 0 0 0.021553 0 0 BCL9 607 broad.mit.edu 37 1 147094086 147094086 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:147094086C>G ENST00000234739.3 + 9 3657 c.2917C>G c.(2917-2919)Cct>Gct p.P973A NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 973 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCCCCCACCTCCTACAGCCAG 0.493000 T """IGH@, IGL@""" B-ALL 28 146 0 0 0.125774 0 0 COL15A1 1306 broad.mit.edu 37 9 101804358 101804358 + Nonsense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:101804358T>A ENST00000375001.3 + 24 2966 c.2543T>A c.(2542-2544)tTa>tAa p.L848* NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 848 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GACACTGGTTTACCTGGCTTT 0.418000 26 70 0 0 0.099896 0 0 PTPN14 5784 broad.mit.edu 37 1 214560235 214560235 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:214560235C>A ENST00000366956.5 - 12 1212 c.1018G>T c.(1018-1020)Gtt>Ttt p.V340F PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 340 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGACGTGAACGGGAGGCAGG 0.577000 13 13 3.27435e-08 4.60217e-08 0.119110 1 0 ABCC3 8714 broad.mit.edu 37 17 48742558 48742558 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:48742558G>T ENST00000285238.8 + 11 1463 c.1383G>T c.(1381-1383)ttG>ttT p.L461F ABCC3_ENST00000427699.1_Missense_Mutation_p.L461F NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 461 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCATGGTCTTGCTGATTCCAC 0.587000 30 110 5.91797e-21 1.13228e-20 0.050027 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20563841 20563841 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:20563841C>A ENST00000202677.6 - 20 2702 c.2560G>T c.(2560-2562)Ggc>Tgc p.G854C NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 854 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTGGTACAGCCCAGAGTTGTG 0.448000 14 84 0.00316338 0.0034729 0.132662 1 0 KCNK2 3776 broad.mit.edu 37 1 215259901 215259901 + Silent SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:215259901G>C ENST00000444842.2 + 2 387 c.237G>C c.(235-237)gtG>gtC p.V79V KCNK2_ENST00000391895.2_Silent_p.V75V|KCNK2_ENST00000391894.2_Silent_p.V64V NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 79 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGCCACCGTGTTCAAAGCAT 0.483000 32 82 0 0 0.050027 0 0 FOXG1 2290 broad.mit.edu 37 14 29237372 29237372 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:29237372G>T ENST00000382535.3 + 2 1256 c.887G>T c.(886-888)gGc>gTc p.G296V FOXG1_ENST00000313071.4_Missense_Mutation_p.G296V P55316 FOXG1_HUMAN forkhead box G1 296 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ACCTCCACCGGCCTCACCTTC 0.697000 4 33 0.00116845 0.00130661 0.021553 1 0 TEKT1 83659 broad.mit.edu 37 17 6722663 6722663 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:6722663C>A ENST00000338694.2 - 3 334 c.205G>T c.(205-207)Gaa>Taa p.E69* TEKT1_ENST00000535086.1_Intron NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 69 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) AACTGGACTTCCTCGAGTCTC 0.408000 8 23 5.16669e-11 8.12434e-11 0.080935 1 0 LRRC37BP1 147172 broad.mit.edu 37 17 28964384 28964384 + RNA SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:28964384G>T ENST00000417404.1 + 0 4642 SMURF2P1_ENST00000578265.1_RNA ATTAAATATTGGTTTTTTACT 0.284000 3 9 0.004672 0.00509533 0.115264 1 0 ARR3 407 broad.mit.edu 37 X 69497335 69497335 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:69497335C>A ENST00000374495.3 + 9 663 c.565C>A c.(565-567)Ctg>Atg p.L189M ARR3_ENST00000307959.8_Missense_Mutation_p.L189M P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 189 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 CCGCTTCCTTCTGTCAGCTCA 0.597000 13 5 6.31663e-08 8.72987e-08 0.132662 1 0 FBN3 84467 broad.mit.edu 37 19 8173122 8173122 + Splice_Site SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:8173122G>T ENST00000600128.1 - 37 5033 c.4618_splice c.e37-1 p.T1540_splice FBN3_ENST00000270509.2_Splice_Site_p.T1540_splice|FBN3_ENST00000601739.1_Splice_Site_p.T1540_splice Q75N90 FBN3_HUMAN fibrillin 3 1540 TB 6. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCTGTACTCAGCTGTAAAGGG 0.552000 11 50 3.86212e-05 4.65705e-05 0.069234 1 0 SDK1 221935 broad.mit.edu 37 7 4014040 4014040 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:4014040G>T ENST00000404826.2 + 13 1996 c.1857G>T c.(1855-1857)tcG>tcT p.S619S SDK1_ENST00000389531.3_Silent_p.S619S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 619 Ig-like C2-type 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGACTCCATCGAGCACGTCTA 0.542000 5 28 0.014758 0.0156567 0.014758 1 0 ANKS1B 56899 broad.mit.edu 37 12 99640282 99640282 + Missense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:99640282G>A ENST00000547776.2 - 13 2116 c.2117C>T c.(2116-2118)gCa>gTa p.A706V ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A286V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A706V NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 706 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AAATCCCCCTGCGTTCATAAC 0.443000 101 108 0 0 0.139131 0 0 PPM1L 151742 broad.mit.edu 37 3 160474254 160474254 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:160474254G>T ENST00000498165.1 + 1 259 c.158G>T c.(157-159)cGg>cTg p.R53L PPM1L_ENST00000497343.1_Missense_Mutation_p.R53L NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 53 protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AAGTCCAGCCGGGACGCCGTG 0.567000 29 35 1.06801e-11 1.72866e-11 0.144211 1 0 NID1 4811 broad.mit.edu 37 1 236192968 236192968 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:236192968G>T ENST00000264187.6 - 7 1702 c.1620C>A c.(1618-1620)atC>atA p.I540I NID1_ENST00000366595.3_Silent_p.I540I NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 540 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CATGCTCATCGATGCCGCTGA 0.607000 5 21 1.06961e-07 1.46905e-07 0.038147 1 0 SRCAP 10847 broad.mit.edu 37 16 30747574 30747574 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:30747574G>T ENST00000262518.4 + 32 7168 c.6783G>T c.(6781-6783)aaG>aaT p.K2261N SRCAP_ENST00000395059.2_Missense_Mutation_p.K2199N|SRCAP_ENST00000344771.4_Missense_Mutation_p.K2103N NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2261 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCCAGGCCAAGGCTGAACAGG 0.517000 14 39 6.31663e-08 8.72987e-08 0.132662 1 0 OR5K1 26339 broad.mit.edu 37 3 98189145 98189145 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:98189145C>A ENST00000332650.5 + 1 822 c.725C>A c.(724-726)gCa>gAa p.A242E NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTACCTGTGCATCCCACTTT 0.348000 19 93 8.28177e-16 1.47777e-15 0.043863 1 0 EPRS 2058 broad.mit.edu 37 1 220154103 220154103 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:220154103C>T ENST00000366923.3 - 25 3819 c.3550G>A c.(3550-3552)Gaa>Aaa p.E1184K NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1184 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TATACCTCTTCCGCTGCCTCT 0.383000 9 41 0 0 0.047766 0 0 KCNT2 343450 broad.mit.edu 37 1 196303157 196303157 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:196303157C>A ENST00000367433.5 - 17 1918 c.1817G>T c.(1816-1818)tGt>tTt p.C606F KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.C606F|KCNT2_ENST00000451324.2_Missense_Mutation_p.C217F|KCNT2_ENST00000367431.4_Missense_Mutation_p.C556F Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 606 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGCTGATCTACAGCTTGTATC 0.403000 21 38 1.10923e-09 1.6651e-09 0.076483 1 0 CHD7 55636 broad.mit.edu 37 8 61655383 61655383 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:61655383G>T ENST00000423902.2 + 2 1871 c.1392G>T c.(1390-1392)atG>atT p.M464I CHD7_ENST00000524602.1_Missense_Mutation_p.M464I|CHD7_ENST00000525508.1_Missense_Mutation_p.M464I NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 464 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTATAGGCATGTCCTCGGCAC 0.557000 6 18 3.59834e-05 4.35484e-05 0.021553 1 0 HEPH 9843 broad.mit.edu 37 X 65427076 65427076 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:65427076G>T ENST00000519389.1 + 14 2672 c.2493G>T c.(2491-2493)ctG>ctT p.L831L HEPH_ENST00000419594.1_Silent_p.L588L|HEPH_ENST00000441993.2_Silent_p.L780L|HEPH_ENST00000374727.3_Silent_p.L780L|HEPH_ENST00000336279.5_Silent_p.L510L|HEPH_ENST00000343002.2_Silent_p.L777L Q9BQS7 HEPH_HUMAN hephaestin 777 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGGGCTCCTGGGTTCCAGAT 0.463000 8 35 1.76689e-08 2.52087e-08 0.058154 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255757 15255757 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:15255757C>A ENST00000378116.4 - 8 1836 c.1830G>T c.(1828-1830)gaG>gaT p.E610D NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 610 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GTCTTTCTATCTCAAGCTGCT 0.592000 12 26 0.000308642 0.000354109 0.132662 1 0 DCHS1 8642 broad.mit.edu 37 11 6646566 6646566 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:6646566G>A ENST00000299441.3 - 19 7420 c.7009C>T c.(7009-7011)Ctg>Ttg p.L2337L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2337 Cadherin 22. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAAAGTCCAGGGGCCCCGTG 0.617000 10 39 0 0 0.058154 0 0 SLC5A7 60482 broad.mit.edu 37 2 108614427 108614427 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:108614427C>A ENST00000264047.2 + 5 858 c.582C>A c.(580-582)tgC>tgA p.C194* SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.C194*|SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.C89* NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 194 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) AGCTCTTTTGCATTTTTGTAG 0.413000 37 150 8.16277e-20 1.54835e-19 0.092188 1 0 EDIL3 10085 broad.mit.edu 37 5 83362384 83362384 + Silent SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:83362384G>C ENST00000296591.5 - 7 1111 c.693C>G c.(691-693)acC>acG p.T231T EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.T221T NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 231 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TGGCTCCTTGGGTAATCACAC 0.368000 9 41 0 0 0.047766 0 0 CPED1 79974 broad.mit.edu 37 7 120739999 120739999 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:120739999G>T ENST00000310396.5 + 7 1236 c.769G>T c.(769-771)Gct>Tct p.A257S CPED1_ENST00000423795.1_Missense_Mutation_p.A37S|CPED1_ENST00000450913.2_Missense_Mutation_p.A257S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GACAGTCCTTGCTCCACATGA 0.373000 9 42 3.09899e-07 4.13615e-07 0.047766 1 0 SLIT2 9353 broad.mit.edu 37 4 20530698 20530698 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:20530698A>T ENST00000504154.1 + 16 1841 c.1589A>T c.(1588-1590)cAc>cTc p.H530L SLIT2_ENST00000503837.1_Missense_Mutation_p.H526L|SLIT2_ENST00000503823.1_Missense_Mutation_p.H522L|SLIT2_ENST00000273739.5_Missense_Mutation_p.H534L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 530 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATCCCGGAGCACATTCCCCAG 0.453000 18 66 0 0 0.043863 0 0 COL4A1 1282 broad.mit.edu 37 13 110850855 110850855 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:110850855G>T ENST00000375820.4 - 21 1365 c.1244C>A c.(1243-1245)cCt>cAt p.P415H COL4A1_ENST00000543140.1_Missense_Mutation_p.P415H NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 415 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGAACCAGGAGGACCCGGGAG 0.597000 3 15 0.004672 0.00509533 0.115264 1 0 OR2M5 127059 broad.mit.edu 37 1 248308513 248308513 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:248308513C>T ENST00000366476.1 + 1 64 c.64C>T c.(64-66)Ccc>Tcc p.P22S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CAATCACAGCCCCACCCACAC 0.473000 85 212 0 0 0.139131 0 0 SLC6A5 9152 broad.mit.edu 37 11 20629090 20629090 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:20629090T>C ENST00000525748.1 + 5 1150 c.877T>C c.(877-879)Tat>Cat p.Y293H NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 293 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GATTATTTGCTATACACTTTT 0.443000 37 93 0 0 0.092188 0 0 CYP46A1 10858 broad.mit.edu 37 14 100166397 100166397 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:100166397G>T ENST00000261835.3 + 5 506 c.402G>T c.(400-402)tgG>tgT p.W134C CYP46A1_ENST00000423126.2_Missense_Mutation_p.W37C NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 134 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) ATGAGCGCTGGCACAAGCAGC 0.637000 11 37 9.70103e-10 1.46623e-09 0.069234 1 0 PLCB1 23236 broad.mit.edu 37 20 8769323 8769323 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:8769323G>T ENST00000378641.3 + 29 3707 c.3232G>T c.(3232-3234)Gag>Tag p.E1078* PLCB1_ENST00000338037.6_Nonsense_Mutation_p.E1078*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E1078* NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1078 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAAGAGGCAGGAGAAGATAAC 0.348000 11 33 7.03913e-09 1.02868e-08 0.093190 1 0 LRP1B 53353 broad.mit.edu 37 2 141283517 141283517 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:141283517G>T ENST00000389484.3 - 49 8893 c.7922C>A c.(7921-7923)aCa>aAa p.T2641K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2641 LDL-receptor class A 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATGAACCCTGTGGTTTTCAC 0.383000 TSP Lung(27;0.18) 13 71 6.31663e-08 8.72987e-08 0.132662 1 0 ANK2 287 broad.mit.edu 37 4 114238882 114238882 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:114238882G>T ENST00000357077.4 + 25 2766 c.2713G>T c.(2713-2715)Gac>Tac p.D905Y ANK2_ENST00000264366.6_Missense_Mutation_p.D905Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D114Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D884Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D905Y NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 905 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTTCAGTTCCGACAGGTCTCA 0.537000 13 57 4.93089e-13 8.16062e-13 0.119110 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374199 95374199 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:95374199C>A ENST00000494840.1 - 0 1662 NR_077228.1 ATCTCTGGGACGTTCATGCAC 0.438000 4 16 0.000602214 0.000687355 0.014758 1 0 SLK 9748 broad.mit.edu 37 10 105767963 105767963 + Missense_Mutation SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:105767963T>G ENST00000369755.3 + 12 3178 c.2633T>G c.(2632-2634)aTt>aGt p.I878S SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.I878S NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 878 UVR. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GACCAGGAAATTGAGAATCTA 0.373000 42 118 0 0 0.124865 0 0 TULP1 7287 broad.mit.edu 37 6 35477040 35477040 + Silent SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:35477040A>T ENST00000229771.6 - 8 847 c.768T>A c.(766-768)gcT>gcA p.A256A TULP1_ENST00000322263.4_Silent_p.A203A NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 256 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TTATCACCGTAGCTGCCTCCT 0.572000 47 178 0 0 0.139131 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616393 77616393 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:77616393A>G ENST00000521891.2 + 2 518 c.70A>G c.(70-72)Acg>Gcg p.T24A ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T24A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T24A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T24A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 24 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTATGTGGAACGACACAACT 0.488000 HNSCC(33;0.089) 3 44 0 0 0.029380 0 0 CLDN14 23562 broad.mit.edu 37 21 37833374 37833374 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:37833374G>T ENST00000399137.1 - 3 1486 c.620C>A c.(619-621)aCc>aAc p.T207N CLDN14_ENST00000399139.1_Missense_Mutation_p.T207N|CLDN14_ENST00000342108.2_Missense_Mutation_p.T207N|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.T207N|CLDN14_ENST00000399135.1_Missense_Mutation_p.T207N NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 207 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 GGCAGGTGCGGTGTTTGCAGT 0.647000 3 8 0.00909568 0.00971184 0.009096 1 0 CASC4 113201 broad.mit.edu 37 15 44620906 44620906 + Nonsense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:44620906G>T ENST00000299957.6 + 3 705 c.406G>T c.(406-408)Gaa>Taa p.E136* CASC4_ENST00000360824.3_Nonsense_Mutation_p.E136*|CASC4_ENST00000345795.2_Nonsense_Mutation_p.E136* NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 136 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) GCTTCGTCAGGAATTTCTTCG 0.398000 5 25 0.00116845 0.00130661 0.021553 1 0 ROPN1 54763 broad.mit.edu 37 3 123699418 123699418 + Translation_Start_Site SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:123699418C>T ENST00000184183.4 - 0 251 ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000495093.1_De_novo_Start_InFrame|ROPN1_ENST00000484329.1_De_novo_Start_InFrame|ROPN1_ENST00000459660.1_Intron|ROPN1_ENST00000479867.1_Intron NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 signal transduction cAMP-dependent protein kinase regulator activity lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) caggaggtcacccagcctctg 0.428000 3 10 0 0 0.009096 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458919 19458919 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:19458919G>T ENST00000270570.4 + 8 741 c.655G>T c.(655-657)Gca>Tca p.A219S SLC47A1_ENST00000542886.1_Missense_Mutation_p.G186V|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.A196S|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A219S|SLC47A1_ENST00000395585.1_Missense_Mutation_p.A219S NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 219 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CTCTGCACTGGCAAACTTGAT 0.532000 11 41 0.000978159 0.00110691 0.080935 1 0 CUTC 51076 broad.mit.edu 37 10 101514311 101514311 + Silent SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:101514311A>T ENST00000370476.5 + 8 756 c.627A>T c.(625-627)ctA>ctT p.L209L NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 209 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) ACAGAAATCTACAAAGGATCC 0.368000 65 166 0 0 0.139131 0 0 ZFAT 57623 broad.mit.edu 37 8 135533236 135533236 + Nonsense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:135533236T>A ENST00000520727.1 - 14 3387 c.3088A>T c.(3088-3090)Aag>Tag p.K1030* ZFAT_ENST00000520356.1_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.K980*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.K1042*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.K1030*|ZFAT_ENST00000517307.1_5'UTR NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1042 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) ACAGGACACTTCAAACCACCT 0.408000 9 121 0 0 0.080935 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70415730 70415730 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:70415730G>T ENST00000393640.4 - 6 3022 c.915C>A c.(913-915)ggC>ggA p.G305G RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.G305G Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 305 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) GGTGCCAGTTGCCCCGGCTGT 0.692000 5 28 0.0293803 0.030775 0.029380 1 0 COL19A1 1310 broad.mit.edu 37 6 70916851 70916851 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:70916851C>A ENST00000322773.4 + 51 3404 c.3301_splice c.e51-1 p.A1101_splice COL19A1_ENST00000393344.1_Splice_Site_p.A723_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1101 Triple-helical region 6 (COL6). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ATGTCGTTAGCTCTGGGTTTG 0.512000 15 55 1.52009e-12 2.49084e-12 0.132662 1 0 C6orf15 29113 broad.mit.edu 37 6 31080013 31080013 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:31080013C>A ENST00000259870.3 - 2 126 c.123G>T c.(121-123)ggG>ggT p.G41G NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 41 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GCAAGTTGGTCCCCAAGTTTT 0.567000 28 84 1.88708e-17 3.47014e-17 0.134883 1 0 DST 667 broad.mit.edu 37 6 56418432 56418432 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:56418432T>C ENST00000370754.5 - 61 15064 c.15065A>G c.(15064-15066)cAg>cGg p.Q5022R DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q4518R|DST_ENST00000421834.2_Missense_Mutation_p.Q2756R|DST_ENST00000361203.3_Missense_Mutation_p.Q4842R|DST_ENST00000370769.4_Missense_Mutation_p.Q4844R|DST_ENST00000244364.6_Missense_Mutation_p.Q2430R|DST_ENST00000370788.2_Missense_Mutation_p.Q2756R Q03001 DYST_HUMAN dystonin 4842 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACAGGCCGACTGAAGGTGCTG 0.328000 7 24 0 0 0.029380 0 0 UNC13A 23025 broad.mit.edu 37 19 17728601 17728601 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:17728601C>A ENST00000428389.2 - 42 4731 c.4732G>T c.(4732-4734)Gac>Tac p.D1578Y UNC13A_ENST00000252773.7_Missense_Mutation_p.D1490Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1490Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1465Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1463Y|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1490Y Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1490 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GATTGCAGGTCCGGGCTCTTC 0.597000 10 24 1.58986e-06 2.05967e-06 0.069234 1 0 MCHR2 84539 broad.mit.edu 37 6 100368931 100368931 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:100368931G>T ENST00000281806.2 - 6 1222 c.908C>A c.(907-909)cCt>cAt p.P303H MCHR2_ENST00000445970.1_Missense_Mutation_p.P303H|MCHR2_ENST00000369212.1_Missense_Mutation_p.P303H NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 303 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTAGAGAAAAGGGTTAATGCT 0.453000 33 75 1.26612e-14 2.19992e-14 0.059317 1 0 KCNU1 157855 broad.mit.edu 37 8 36780061 36780061 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:36780061C>T ENST00000399881.3 + 24 2687 c.2650C>T c.(2650-2652)Ctc>Ttc p.L884F NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 884 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GGAAGGGTCCCTCCAAGAAAC 0.458000 15 41 0 0 0.146539 0 0 DNAH12 201625 broad.mit.edu 37 3 57494913 57494913 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:57494913C>A ENST00000351747.2 - 6 676 c.496G>T c.(496-498)Gtt>Ttt p.V166F DNAH12_ENST00000311202.6_Missense_Mutation_p.V166F|DNAH12_ENST00000389536.4_Missense_Mutation_p.V166F NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 166 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AGCGATTTAACTGGTGGTTTC 0.308000 10 43 1.08611e-07 1.48862e-07 0.080935 1 0 KCNB1 3745 broad.mit.edu 37 20 47991190 47991190 + Nonsense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:47991190G>A ENST00000371741.4 - 2 1073 c.907C>T c.(907-909)Cga>Tga p.R303* NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 303 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.R303*(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGGAGAATTCGCATGATGCGG 0.532000 6 55 0 0 0.029380 0 0 GRM8 2918 broad.mit.edu 37 7 126544739 126544739 + Splice_Site SNP T T G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:126544739T>G ENST00000339582.2 - 4 1536 c.e4-2 GRM8_ENST00000480995.1_Splice_Site|GRM8_ENST00000405249.1_Splice_Site|GRM8_ENST00000358373.3_Splice_Site|GRM8_ENST00000444921.2_Splice_Site O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AAACACCACCTATTTAAAAAA 0.358000 HNSCC(24;0.065) 10 32 0 0 0.080935 0 0 CNTN5 53942 broad.mit.edu 37 11 100095485 100095485 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:100095485G>T ENST00000524871.1 + 16 2236 c.1946G>T c.(1945-1947)gGc>gTc p.G649V CNTN5_ENST00000528682.1_Missense_Mutation_p.G649V|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.G649V|CNTN5_ENST00000418526.2_Missense_Mutation_p.G575V|CNTN5_ENST00000527185.1_Missense_Mutation_p.G649V NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 649 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGGAGATATGGCTGCAGGGTA 0.453000 15 47 3.41278e-10 5.24191e-10 0.033300 1 0 NLRP4 147945 broad.mit.edu 37 19 56370504 56370504 + Missense_Mutation SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:56370504A>C ENST00000301295.6 + 3 2167 c.1745A>C c.(1744-1746)gAc>gCc p.D582A NLRP4_ENST00000346986.5_Missense_Mutation_p.D582A|NLRP4_ENST00000587891.1_Missense_Mutation_p.D507A NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 582 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CATATTATTGACAACGTGGAC 0.413000 10 30 0 0 0.080935 0 0 MLLT3 4300 broad.mit.edu 37 9 20413948 20413948 + Missense_Mutation SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:20413948T>C ENST00000380338.4 - 5 1182 c.896A>G c.(895-897)aAa>aGa p.K299R MLLT3_ENST00000429426.2_Missense_Mutation_p.K296R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GCTACTCTTTTTCCTTTTTTT 0.388000 T MLL ALL 25 65 0 0 0.108266 0 0 BAGE2 85319 broad.mit.edu 37 21 11039062 11039062 + RNA SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:11039062A>G ENST00000470054.1 - 0 1141 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAATCCAGTAGAAAGTTCAG 0.398000 11 234 0 0 0.105934 0 0 CUBN 8029 broad.mit.edu 37 10 17024634 17024634 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:17024634T>A ENST00000377833.4 - 31 4609 c.4544A>T c.(4543-4545)cAg>cTg p.Q1515L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1515 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTGGGAGCCTGGAAAATCCC 0.433000 9 53 0 0 0.047766 0 0 GFRA3 2676 broad.mit.edu 37 5 137589488 137589488 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:137589488G>A ENST00000274721.3 - 6 1237 c.991C>T c.(991-993)Ctg>Ttg p.L331L GFRA3_ENST00000378362.3_Silent_p.L300L NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 331 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AACCCTTCCAGCATTTCACAC 0.572000 7 15 0 0 0.069234 0 0 CORO6 84940 broad.mit.edu 37 17 27943986 27943986 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:27943986G>T ENST00000345068.5 - 7 1041 c.828C>A c.(826-828)ccC>ccA p.P276P CORO6_ENST00000580212.1_Silent_p.P236P|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Silent_p.P276P|CORO6_ENST00000456796.3_Silent_p.P42P|CORO6_ENST00000445145.2_Silent_p.P276P|CORO6_ENST00000388767.3_Silent_p.P276P Q6QEF8 CORO6_HUMAN coronin 6 276 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 TGCTGGAGTCGGGATCGTAAA 0.627000 10 35 5.16669e-11 8.12434e-11 0.080935 1 0 PSPH 5723 broad.mit.edu 37 7 56085062 56085062 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:56085062T>A ENST00000395471.3 - 6 1091 c.286A>T c.(286-288)Agt>Tgt p.S96C PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.S96C P78330 SERB_HUMAN phosphoserine phosphatase 96 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGTAGGCGACTTACCAGCTCC 0.363000 3 14 0 0 0.021553 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366585 40366585 + Missense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:40366585G>C ENST00000406785.1 - 7 2582 c.2393C>G c.(2392-2394)tCt>tGt p.S798C SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S829C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S798C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S826C|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S829C|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S798C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S834C|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S834C|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S798C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S798C P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 834 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGCAGTCACAGAATCTTTCAG 0.473000 16 54 0 0 0.132662 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063605 58063605 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:58063605A>T ENST00000339762.6 - 1 10 c.11T>A c.(10-12)cTa>cAa p.L4Q SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATCCAAGAGTAGTTCATCCAT 0.463000 9 12 0 0 0.069234 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163806 32163806 + RNA SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:32163806G>C ENST00000564145.1 - 0 28 TGTGGGTGATGGAGCGGAGCT 0.532000 10 43 0 0 0.093190 0 0 ITIH4 3700 broad.mit.edu 37 3 52854649 52854649 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:52854649C>A ENST00000266041.4 - 13 1928 c.1832G>T c.(1831-1833)gGc>gTc p.G611V ITIH4_ENST00000434759.3_Missense_Mutation_p.G523V|ITIH4_ENST00000346281.5_Missense_Mutation_p.G611V|ITIH4_ENST00000406595.1_Missense_Mutation_p.G611V|ITIH4_ENST00000485816.1_Missense_Mutation_p.G611V NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 611 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACACCCACCGCCTTCCATGGG 0.552000 OREG0015616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 0.00116845 0.00130661 0.021553 1 0 GLG1 2734 broad.mit.edu 37 16 74530506 74530506 + Nonsense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:74530506C>A ENST00000422840.2 - 5 810 c.811G>T c.(811-813)Gag>Tag p.E271* GLG1_ENST00000205061.5_Nonsense_Mutation_p.E271*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.E260* NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 271 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGGCCTTTCTCCAAGCATGAT 0.403000 15 102 9.16793e-09 1.32805e-08 0.033300 1 0 SARS 6301 broad.mit.edu 37 1 109766604 109766604 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:109766604A>T ENST00000369923.4 + 2 152 c.141A>T c.(139-141)agA>agT p.R47S SARS_ENST00000234677.2_Missense_Mutation_p.R47S P49591 SYSC_HUMAN seryl-tRNA synthetase 47 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TCCTAGGTAGATTTCGGGCAG 0.383000 19 106 0 0 0.076483 0 0 OLFM3 118427 broad.mit.edu 37 1 102270053 102270053 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:102270053C>A ENST00000370103.4 - 6 1331 c.1118G>T c.(1117-1119)aGt>aTt p.S373I OLFM3_ENST00000338858.5_Missense_Mutation_p.S393I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 393 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTCCCCTGCACTTCTCTTGGG 0.463000 19 78 1.01871e-10 1.57567e-10 0.049695 1 0 MYH15 22989 broad.mit.edu 37 3 108112926 108112926 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:108112926C>A ENST00000273353.3 - 37 5327 c.5271G>T c.(5269-5271)gtG>gtT p.V1757V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1757 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GACACTCCTGCACCACCTCTT 0.512000 11 87 1.05317e-09 1.58815e-09 0.119110 1 0 DNAH11 8701 broad.mit.edu 37 7 21678642 21678642 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:21678642G>T ENST00000328843.6 + 28 4949 c.4918G>T c.(4918-4920)Gat>Tat p.D1640Y DNAH11_ENST00000409508.3_Missense_Mutation_p.D1635Y Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1640 Stem (By similarity). D -> G (in dbSNP:rs17144835). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTCTTCTGCTGATTTACTTGA 0.393000 Kartagener syndrome 24 87 4.87955e-14 8.24047e-14 0.108266 1 0 DYNC2LI1 51626 broad.mit.edu 37 2 44016839 44016839 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:44016839C>G ENST00000398823.2 + 5 374 c.299C>G c.(298-300)cCc>cGc p.P100R DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.P100R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.P100R|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000260605.8_Missense_Mutation_p.P100R Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 100 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATCAGCATACCCATCACAGGT 0.423000 14 59 0 0 0.049695 0 0 ALPK1 80216 broad.mit.edu 37 4 113345153 113345153 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:113345153G>T ENST00000458497.1 + 6 808 c.529G>T c.(529-531)Gca>Tca p.A177S ALPK1_ENST00000177648.9_Missense_Mutation_p.A177S|ALPK1_ENST00000504176.2_Missense_Mutation_p.A99S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 177 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAACAATGGAGCAACGGGTGA 0.378000 15 84 0.00121646 0.00135801 0.049695 1 0 LPHN3 23284 broad.mit.edu 37 4 62598825 62598825 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:62598825C>A ENST00000512091.1 + 7 1495 c.748C>A c.(748-750)Cat>Aat p.H250N LPHN3_ENST00000509896.1_Missense_Mutation_p.H318N|LPHN3_ENST00000507164.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514157.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506746.1_Missense_Mutation_p.H318N|LPHN3_ENST00000508946.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506700.1_Missense_Mutation_p.H250N|LPHN3_ENST00000504896.1_Missense_Mutation_p.H250N|LPHN3_ENST00000511324.1_Missense_Mutation_p.H318N|LPHN3_ENST00000507625.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514996.1_Missense_Mutation_p.H250N|LPHN3_ENST00000508693.1_Missense_Mutation_p.H318N|LPHN3_ENST00000514591.1_Missense_Mutation_p.H250N|LPHN3_ENST00000506720.1_Missense_Mutation_p.H318N|LPHN3_ENST00000545650.1_Missense_Mutation_p.H250N Q9HAR2 LPHN3_HUMAN latrophilin 3 250 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGCCAATTACCATGATACCTC 0.438000 9 22 3.09899e-07 4.13615e-07 0.047766 1 0 PLS3 5358 broad.mit.edu 37 X 114879350 114879350 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:114879350G>T ENST00000420625.2 + 11 1327 c.1193G>T c.(1192-1194)cGt>cTt p.R398L PLS3_ENST00000543070.1_5'UTR|PLS3_ENST00000539310.1_Missense_Mutation_p.R353L|PLS3_ENST00000355899.3_Missense_Mutation_p.R398L|PLS3_ENST00000537301.1_Missense_Mutation_p.R385L|PLS3_ENST00000289290.3_Missense_Mutation_p.R362L NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 398 Actin-binding 2.|CH 3. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GGAGAAACTCGTGAAGAAAGA 0.348000 17 30 2.94398e-08 4.16435e-08 0.043863 1 0 NLRP4 147945 broad.mit.edu 37 19 56369278 56369278 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:56369278G>T ENST00000301295.6 + 3 941 c.519G>T c.(517-519)tcG>tcT p.S173S NLRP4_ENST00000346986.5_Silent_p.S173S|NLRP4_ENST00000587891.1_Silent_p.S98S NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 173 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGGCCTGGTCGGACAACAAGA 0.493000 15 46 2.31682e-05 2.835e-05 0.132662 1 0 CDH10 1008 broad.mit.edu 37 5 24491817 24491817 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:24491817G>A ENST00000264463.4 - 11 2251 c.1744C>T c.(1744-1746)Ctg>Ttg p.L582L CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 582 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CGAATGGTCAGTGTGCCTGTG 0.498000 HNSCC(23;0.051) 9 59 0 0 0.058154 0 0 MYH4 4622 broad.mit.edu 37 17 10352228 10352228 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:10352228T>A ENST00000255381.2 - 31 4428 c.4318A>T c.(4318-4320)Aat>Tat p.N1440Y CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1440 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CAGGCAGCATTAGATCGTTCC 0.443000 7 26 0 0 0.038147 0 0 CTNND2 1501 broad.mit.edu 37 5 11199628 11199628 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:11199628C>A ENST00000304623.8 - 11 2096 c.1907G>T c.(1906-1908)gGt>gTt p.G636V CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G203V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G636V|CTNND2_ENST00000511377.1_Missense_Mutation_p.G545V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G299V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 636 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGGATGCCACCACAGTTTTT 0.473000 39 233 3.77016e-25 7.40607e-25 0.131918 1 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 4 393 0 0 0.038147 0 0 GNB1 2782 broad.mit.edu 37 1 1721833 1721833 + Splice_Site SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:1721833C>G ENST00000378609.4 - 9 1031 c.e9+1 NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) CCCAGACTCACGCAAATGGCA 0.517000 3 17 0 0 0.014758 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33630991 33630991 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:33630991G>T ENST00000504830.1 - 13 2251 c.1916C>A c.(1915-1917)cCc>cAc p.P639H ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 639 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCCATCTATGGGTCGGCAGTA 0.473000 HNSCC(64;0.19) 54 89 3.00063e-23 5.85963e-23 0.139131 1 0 RGPD4 285190 broad.mit.edu 37 2 108487652 108487652 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:108487652G>T ENST00000408999.3 + 20 3269 c.3192G>T c.(3190-3192)ggG>ggT p.G1064G RGPD4_ENST00000354986.4_Silent_p.G1064G NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1064 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ATTCACAGGGGGTAAAACTAT 0.393000 58 226 4.49795e-14 7.65461e-14 0.139131 1 0 A4GNT 51146 broad.mit.edu 37 3 137850093 137850093 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:137850093C>T ENST00000236709.3 - 2 207 c.6G>A c.(4-6)cgG>cgA p.R2R NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 2 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GGAGCTCCTTCCGCATGTCCT 0.473000 25 67 0 0 0.116897 0 0 ALPK1 80216 broad.mit.edu 37 4 113351753 113351753 + Silent SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:113351753G>A ENST00000458497.1 + 11 1329 c.1050G>A c.(1048-1050)gaG>gaA p.E350E ALPK1_ENST00000177648.9_Silent_p.E350E|ALPK1_ENST00000504176.2_Silent_p.E272E NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 350 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GAAAACAGGAGCTTCACAGCT 0.502000 7 40 0 0 0.029380 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530959 140530959 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:140530959G>T ENST00000231136.1 + 1 1121 c.1121G>T c.(1120-1122)gGa>gTa p.G374V PCDHB6_ENST00000543635.1_Missense_Mutation_p.G238V NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 374 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGACTCTGGACATAACCAA 0.458000 32 70 8.4185e-14 1.41448e-13 0.050027 1 0 MKRN3 7681 broad.mit.edu 37 15 23811385 23811385 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:23811385G>T ENST00000314520.3 + 1 932 c.456G>T c.(454-456)ccG>ccT p.P152P MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 152 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCGAGCCCCCGACTCAGGAAG 0.637000 4 3 0.00909568 0.00971184 0.009096 1 0 ZC2HC1C 79696 broad.mit.edu 37 14 75537689 75537689 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:75537689C>A ENST00000524913.1 + 2 902 c.413C>A c.(412-414)gCg>gAg p.A138E ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.A138E|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.A138E NM_024643.2 NP_078919.2 Q53FD0 F164C_HUMAN zinc finger, C2HC-type containing 1C 138 GTGGACCGGGCGTTCCCATTG 0.522000 63 216 2.32099e-22 4.46655e-22 0.139131 1 0 PCDHB11 56125 broad.mit.edu 37 5 140581476 140581476 + Missense_Mutation SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:140581476C>T ENST00000354757.3 + 1 2129 c.2129C>T c.(2128-2130)gCg>gTg p.A710V PCDHB11_ENST00000536699.1_Missense_Mutation_p.A345V NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 710 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTCGTGGCGGTGCGGCTG 0.687000 24 26 0 0 0.064281 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012669 153012669 + Nonsense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:153012669G>A ENST00000368757.1 - 2 434 c.154C>T c.(154-156)Cag>Tag p.Q52* SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q52*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q52*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q52* P22532 SPR2D_HUMAN small proline-rich protein 2D 52 keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGATATTTCTGCTGGCACTGC 0.582000 76 141 0 0 0.139131 0 0 FCRL5 83416 broad.mit.edu 37 1 157512672 157512672 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:157512672T>A ENST00000361835.3 - 6 1257 c.1100A>T c.(1099-1101)aAg>aTg p.K367M FCRL5_ENST00000368190.3_Missense_Mutation_p.K367M|FCRL5_ENST00000368191.3_Missense_Mutation_p.K282M|FCRL5_ENST00000368189.3_Missense_Mutation_p.K367M|FCRL5_ENST00000356953.4_Missense_Mutation_p.K367M NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 367 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCTCACAGCCTTACTGGGCTT 0.562000 25 129 0 0 0.144211 0 0 RBM47 54502 broad.mit.edu 37 4 40440354 40440354 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:40440354C>G ENST00000319592.4 - 4 1266 c.557G>C c.(556-558)aGc>aCc p.S186T RBM47_ENST00000295971.7_Missense_Mutation_p.S186T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.S186T|RBM47_ENST00000514014.1_Missense_Mutation_p.S148T|RBM47_ENST00000381793.2_Missense_Mutation_p.S186T A0AV96 RBM47_HUMAN RNA binding motif protein 47 186 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GTCGGCCGCGCTGGCGTAGAC 0.637000 8 26 0 0 0.069234 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717205 222717205 + Silent SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:222717205C>G ENST00000343410.6 - 2 706 c.648G>C c.(646-648)ctG>ctC p.L216L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 216 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CGGGGTTCCTCAGCCCGTTGG 0.622000 19 25 0 0 0.055883 0 0 OR2S2 56656 broad.mit.edu 37 9 35957691 35957691 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:35957691C>A ENST00000341959.2 - 1 460 c.405G>T c.(403-405)gtG>gtT p.V135V NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TGCTCATGATCACGGAGTACC 0.557000 13 65 1.5739e-10 2.42872e-10 0.146539 1 0 KRT1 3848 broad.mit.edu 37 12 53071142 53071142 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:53071142G>T ENST00000252244.3 - 5 1144 c.1086C>A c.(1084-1086)gcC>gcA p.A362A NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 362 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TGCTCTTCTGGGCTATATCCT 0.507000 34 32 9.04072e-19 1.69067e-18 0.059317 1 0 PIAS2 9063 broad.mit.edu 37 18 44416466 44416466 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:44416466C>A ENST00000585916.1 - 9 1055 c.1056G>T c.(1054-1056)agG>agT p.R352S PIAS2_ENST00000324794.7_Missense_Mutation_p.R352S|PIAS2_ENST00000545673.1_Missense_Mutation_p.R62S NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 352 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 GGATTGTCAGCCTCATTTTTC 0.433000 18 87 1.01871e-10 1.57567e-10 0.049695 1 0 GNAI2 2771 broad.mit.edu 37 3 50289130 50289130 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:50289130G>T ENST00000266027.5 + 1 25 c.25G>T c.(25-27)Gcc>Tcc p.A9S GNAI2_ENST00000451956.1_Intron|GNAI2_ENST00000536647.1_Intron|GNAI2_ENST00000440628.1_Intron|GNAI2_ENST00000491100.1_Intron|GNAI2_ENST00000313601.6_Intron|GNAI2_ENST00000422163.1_Intron P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 0 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) GCATCTTCCTGCCAGCTCTGC 0.587000 3 7 0.115264 0.119226 0.115264 1 0 SLTM 79811 broad.mit.edu 37 15 59179173 59179173 + Splice_Site SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:59179173C>A ENST00000380516.2 - 19 2923 c.e19+1 SLTM_ENST00000536328.1_Splice_Site NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCAGCACTTACCTGTGATCCA 0.542000 11 28 1.5842e-08 2.28983e-08 0.105934 1 0 RASSF9 9182 broad.mit.edu 37 12 86198702 86198702 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:86198702C>A ENST00000361228.3 - 2 1454 c.1086G>T c.(1084-1086)aaG>aaT p.K362N NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 362 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AATTGAATTCCTTGGCCAGGA 0.408000 32 161 8.88839e-20 1.68118e-19 0.045705 1 0 OR8J1 219477 broad.mit.edu 37 11 56127956 56127956 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:56127956C>A ENST00000303039.3 + 1 266 c.234C>A c.(232-234)gcC>gcA p.A78A NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A78>?(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) CTGTCATTGCCCCTAAAATGC 0.418000 20 86 1.9806e-07 2.69231e-07 0.069288 1 0 AGAP2 116986 broad.mit.edu 37 12 58126272 58126272 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:58126272G>T ENST00000257897.3 - 7 785 c.700C>A c.(700-702)Cgc>Agc p.R234S AGAP2_ENST00000547588.1_Missense_Mutation_p.R570S NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 570 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TGCTGCTTGCGCAAGGTCACC 0.597000 3 3 0.00024832 0.0002884 0.009096 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215843 140215843 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:140215843G>T ENST00000525929.1 + 1 1875 c.1875G>T c.(1873-1875)ggG>ggT p.G625G PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.G625G|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGCGTGGGGCTGTACACTG 0.637000 15 25 2.4624e-09 3.67141e-09 0.049695 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98469658 98469658 + Silent SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:98469658C>A ENST00000339364.5 - 2 215 c.96G>T c.(94-96)ctG>ctT p.L32L NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 32 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GCCGACTGGACAGGAACAGGG 0.612000 6 33 3.59834e-05 4.35484e-05 0.021553 1 0 SOX6 55553 broad.mit.edu 37 11 16340026 16340026 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:16340026C>A ENST00000352083.6 - 3 488 c.411G>T c.(409-411)aaG>aaT p.K137N SOX6_ENST00000528252.1_Missense_Mutation_p.K137N|SOX6_ENST00000527619.1_Missense_Mutation_p.K140N|SOX6_ENST00000396356.3_Missense_Mutation_p.K137N|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.K137N|SOX6_ENST00000316399.6_Missense_Mutation_p.K137N P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 137 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CCTCAAGCTTCTTCTGTTTCA 0.468000 32 72 6.84511e-11 1.06874e-10 0.059317 1 0 GPR22 2845 broad.mit.edu 37 7 107115574 107115574 + Missense_Mutation SNP T T A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:107115574T>A ENST00000304402.4 + 3 2412 c.1069T>A c.(1069-1071)Tat>Aat p.Y357N COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 357 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 AGTCATGGCTTATGGAACAAC 0.313000 12 39 0 0 0.105934 0 0 TPO 7173 broad.mit.edu 37 2 1488506 1488506 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:1488506G>T ENST00000345913.4 + 9 1568 c.1477G>T c.(1477-1479)Ggc>Tgc p.G493C TPO_ENST00000349624.3_Missense_Mutation_p.G320C|TPO_ENST00000382198.1_Missense_Mutation_p.G320C|TPO_ENST00000337415.3_Missense_Mutation_p.G493C|TPO_ENST00000346956.3_Missense_Mutation_p.G493C|TPO_ENST00000382201.3_Missense_Mutation_p.G493C|TPO_ENST00000329066.4_Missense_Mutation_p.G493C|TPO_ENST00000497517.2_3'UTR NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 493 G -> S (in TDH2A). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTTCCGCTTCGGCCATGCCAC 0.652000 5 14 5.68852e-11 8.90261e-11 0.047766 1 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143677 61143677 + RNA SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:61143677C>A ENST00000475015.1 - 0 661 C20orf166-AS1_ENST00000412495.1_RNA CCCGGCAATGCAGCCCCCTCC 0.677000 3 8 0.115264 0.119226 0.115264 1 0 OR2M3 127062 broad.mit.edu 37 1 248367276 248367276 + Missense_Mutation SNP A A G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:248367276A>G ENST00000456743.1 + 1 945 c.907A>G c.(907-909)Aag>Gag p.K303E NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) AGCATTCATGAAGATCTTAGG 0.423000 74 142 0 0 0.139131 0 0 SETBP1 26040 broad.mit.edu 37 18 42531910 42531910 + Missense_Mutation SNP A A T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:42531910A>T ENST00000282030.5 + 4 2901 c.2605A>T c.(2605-2607)Agc>Tgc p.S869C NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 869 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCCCAGCGACAGCGGCATTGG 0.562000 Schinzel-Giedion syndrome 13 42 0 0 0.105934 0 0 CDC20B 166979 broad.mit.edu 37 5 54420757 54420757 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:54420757C>G ENST00000296733.1 - 9 1263 c.1089G>C c.(1087-1089)tgG>tgC p.W363C CDC20B_ENST00000322374.6_Missense_Mutation_p.W363C|CDC20B_ENST00000381375.2_Missense_Mutation_p.W363C|CDC20B_ENST00000334206.5_3'UTR NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 363 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CATCCGGTGACCACTTCAGAG 0.572000 37 82 0 0 0.092188 0 0 POLE 5426 broad.mit.edu 37 12 133250242 133250242 + Silent SNP C C T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:133250242C>T ENST00000320574.5 - 13 1321 c.1278G>A c.(1276-1278)gcG>gcA p.A426A POLE_ENST00000535270.1_Silent_p.A399A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 426 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTTGGCGGCCGCCTTGAGAT 0.587000 DNA polymerases (catalytic subunits) 29 138 0 0 0.131918 0 0 RP11-154H17.1 0 broad.mit.edu 37 1 5653436 5653437 + RNA DEL TC TC - rs112755593 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:5653436_5653437delTC ENST00000413887.1 - 0 155 AAGGAGGGATTCTCTCTCTCTC 0.584 3 3 --- --- --- --- LOC284632 284632 broad.mit.edu 37 1 24529628 24529644 + RNA DEL CCCTGCTGCCCACACAC CCCTGCTGCCCACACAC - rs141439997 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:24529628_24529644delCCCTGCTGCCCACACAC ENST00000439059.2 + 0 288 NR_027087.2 GCCCACACATCCCTGCTGCCCACACACCCCTGCTGCC 0.618 2 4 --- --- --- --- LINC00466 199899 broad.mit.edu 37 1 63728558 63728558 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:63728558delT ENST00000455304.2 - 0 191 gtcatatgcctgtagtcacag 0.498 2 4 --- --- --- --- MGC27382 149047 broad.mit.edu 37 1 78744312 78744312 + RNA DEL T T - rs11336496 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:78744312delT ENST00000436742.1 + 0 1342 acccaggATCttttttttttt 0.498 2 4 --- --- --- --- LOC100129620 100129620 broad.mit.edu 37 1 99591854 99591854 + RNA DEL A A - rs148649607 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:99591854delA ENST00000425113.1 + 0 370 NR_033940.1 gtgtagtttcaattttctgca 0.313 3 3 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142640886 142640886 + RNA DEL T T - rs111783433 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:142640886delT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA tttgaaataattttttatagg 0.383 5 2 --- --- --- --- SPRR3 6707 broad.mit.edu 37 1 152975813 152975836 + In_Frame_Del DEL ACACCAAGGTCCCTGAACCAGGCA ACACCAAGGTCCCTGAACCAGGCA - rs1970328 byFrequency TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA ENST00000331860.3 + 3 467_490 c.317_340delACACCAAGGTCCCTGAACCAGGCA c.(316-342)tgc>t p.YTKVPEPGS106del SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 106 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT 0.567 7 183 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 10 328 --- --- --- --- RP1-45C12.1 0 broad.mit.edu 37 1 171201840 171201840 + RNA DEL T T - rs58670836 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:171201840delT ENST00000455124.1 - 0 415 ATGCATTCCATTTTTTTTTTT 0.323 3 3 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177415067 177415068 + RNA INS - - AA rs71567161 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:177415067_177415068insAA ENST00000438575.1 - 0 296 AAAGAAAAAAGAAAAAAAATCA 0.416 7 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188878206 188878206 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:188878206delA ENST00000445072.1 + 0 239 AATGTAACTGAACACAGAACA 0.338 2 4 --- --- --- --- BRINP3 339479 broad.mit.edu 37 1 190195351 190195352 + Frame_Shift_Ins INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:190195351_190195352insT ENST00000367462.3 - 6 1052_1053 c.821_822insA c.(820-822)agafs p.R274fs FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Ins_p.R172fs NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 274 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGTCATTTTCCTTGCAGATAAA 0.450 13 76 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 7 106 --- --- --- --- PROX1-AS1 100505832 broad.mit.edu 37 1 214024139 214024140 + RNA INS - - T rs147903433 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:214024139_214024140insT ENST00000433082.2 - 0 401 PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601744.1_RNA GCTTACTTGGCTTttttttttt 0.337 3 6 --- --- --- --- QRSL1P2 100422330 broad.mit.edu 37 1 222435351 222435352 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:222435351_222435352insT ENST00000416510.1 - 0 167 ATTGGCAACCCTTGGTTTGAAA 0.416 9 29 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227583317 227583317 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr1:227583317delT ENST00000445817.1 + 0 210 TTTGTGAAGGTTAGTGACTAA 0.423 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12439942 12439943 + RNA INS - - G rs13028797 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:12439942_12439943insG ENST00000412294.1 + 0 315 ttttgttttttttttttttttt 0.401 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12466620 12466621 + RNA DEL CA CA - rs72236222 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:12466620_12466621delCA ENST00000412294.1 + 0 412 aacacctgctcacacacacaca 0.480 2 4 --- --- --- --- AC008069.1 0 broad.mit.edu 37 2 16911682 16911682 + RNA DEL T T - rs77881004 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:16911682delT ENST00000448650.1 + 0 56 ATTACCATCATTTTTTTTTTT 0.318 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22272337 22272338 + RNA DEL GT GT - rs76535419 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:22272337_22272338delGT ENST00000450551.1 - 0 200 gttgattagagtgtgtgtgtgt 0.366 5 4 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34108393 34108394 + RNA INS - - A rs144393570 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:34108393_34108394insA ENST00000366209.2 + 0 134 cctttggacttacagtggtttg 0.505 8 7 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48210726 48210727 + RNA INS - - T rs11450002 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:48210726_48210727insT ENST00000447571.1 - 0 441 p.0?(2) AAATTCCAGGATTTTTTAAATA 0.317 5 3 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51591352 51591353 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:51591352_51591353insT ENST00000440698.1 + 0 615 ccaaaccacgatgagataccat 0.391 4 2 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52417107 52417107 + RNA DEL T T - rs35845804 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:52417107delT ENST00000440698.1 + 0 879 tcttcaaaagttgttagggat 0.348 4 2 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60319152 60319153 + RNA DEL CA CA - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:60319152_60319153delCA ENST00000606382.1 - 0 110 TAAATacacgcacacacacaca 0.406 2 4 --- --- --- --- LOC644838 644838 broad.mit.edu 37 2 67413607 67413608 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:67413607_67413608insG ENST00000433133.1 - 0 205 AC023115.2_ENST00000452716.1_lincRNA|AC023115.1_ENST00000594329.1_lincRNA NR_038844.1 GGAGAAGGGTTGGGGGCGTGTC 0.470 2 4 --- --- --- --- LOC150776 150776 broad.mit.edu 37 2 132266282 132266282 + RNA DEL G G - rs74537446 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:132266282delG ENST00000438378.2 + 0 1234 NR_026922.1 GCTGGATGGTGGGAAGCAGAA 0.547 7 7 --- --- --- --- AC074363.1 0 broad.mit.edu 37 2 168290205 168290205 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:168290205delA ENST00000442316.1 + 0 164 AACTGAACAGAAAAAAATGTG 0.284 2 4 --- --- --- --- ZAK 51776 broad.mit.edu 37 2 174086040 174086040 + Frame_Shift_Del DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:174086040delG ENST00000338983.3 + 12 1345 c.1150delG c.(1150-1152)ggfs p.G384fs MLTK_ENST00000375213.3_Intron|MLTK_ENST00000431503.2_Frame_Shift_Del_p.G283fs|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Frame_Shift_Del_p.G384fs|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron NM_133646.2 NP_598407.1 GATGGGCTTTGGGGATATCTT 0.478 10 67 --- --- --- --- AC079613.1 0 broad.mit.edu 37 2 189482962 189482962 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:189482962delT ENST00000431708.1 - 0 465 gctttattcatttttttttca 0.313 2 4 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216518333 216518334 + RNA INS - - G rs66486236 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr2:216518333_216518334insG ENST00000445174.1 - 0 723 AC012668.2_ENST00000417485.2_lincRNA NR_037195.1 CTGAAATAGACTTCAGAAATGT 0.431 4 2 --- --- --- --- AC090044.2 0 broad.mit.edu 37 3 899364 899371 + RNA DEL CTCTCTCT CTCTCTCT - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:899364_899371delCTCTCTCT ENST00000423193.1 + 0 150 GTCCTGTAAActctctctctctctctct 0.462 3 4 --- --- --- --- LINC00620 285375 broad.mit.edu 37 3 13761416 13761417 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:13761416_13761417insT ENST00000419618.1 + 0 409 LINC00620_ENST00000438915.1_RNA NR_027103.1 ttctgttaatctttttttcagc 0.257 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84843597 84843597 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:84843597delG ENST00000484892.1 - 0 1294 NR_033860.1 ataaaaagttggGGACCAGGA 0.338 2 4 --- --- --- --- RP11-457K10.1 0 broad.mit.edu 37 3 109520606 109520607 + RNA DEL TG TG - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:109520606_109520607delTG ENST00000485384.1 + 0 29 tgtgtgtgtttgtgtgtgtgtg 0.391 2 4 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112824700 112824700 + RNA DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:112824700delC ENST00000460707.1 + 0 390 RP11-572M11.4_ENST00000496389.1_RNA ATGCTTCCCTCCCCAGTCCCC 0.453 3 4 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 118100866 118100867 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:118100866_118100867insA ENST00000482142.1 - 0 232 ATTTTTGTATTAAAAAAAAGGC 0.347 3 3 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172990424 172990425 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:172990424_172990425insT ENST00000447709.1 + 0 216 cagctttgttctttttgcagag 0.317 2 4 --- --- --- --- RP11-134F2.2 0 broad.mit.edu 37 3 186371488 186371488 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:186371488delG ENST00000428501.1 - 0 245 RP11-134F2.2_ENST00000455926.1_RNA ccagcactttgggaggctgag 0.507 2 4 --- --- --- --- LOC100507391 100507391 broad.mit.edu 37 3 194445578 194445579 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr3:194445578_194445579insT ENST00000423318.1 + 0 727 NR_037891.1 catgagttcagttttttgtttg 0.480 2 4 --- --- --- --- LINC01085 152742 broad.mit.edu 37 4 14113895 14113896 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:14113895_14113896insA ENST00000502759.1 + 0 210 NR_033931.1 GGAAAAACCTTAAAAAAAAAAA 0.371 2 4 --- --- --- --- LOC101928851 101928851 broad.mit.edu 37 4 58305592 58305593 + RNA INS - - T rs58312088 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:58305592_58305593insT ENST00000510956.1 + 0 544 tgccattcacattttttttttt 0.361 3 2 --- --- --- --- LINC01094 100505702 broad.mit.edu 37 4 79601115 79601116 + RNA INS - - AGC rs61256366 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:79601115_79601116insAGC ENST00000503539.1 + 0 283 NR_038304.1|NR_038307.1 taagaaaaagaaGCAGCAGCAG 0.441 2 4 --- --- --- --- LOC101927849 101927849 broad.mit.edu 37 4 150177651 150177652 + RNA INS - - A rs142469308 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:150177651_150177652insA ENST00000503100.1 + 0 2175 tcagcatttagaaaaaaaaaag 0.421 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190832285 190832286 + RNA DEL GA GA - rs73876003 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr4:190832285_190832286delGA ENST00000511785.1 - 0 231 TATCAATATGGAAAAAAAAAGA 0.327 3 5 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9830718 9830721 + RNA DEL CACA CACA - rs35981977 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:9830718_9830721delCACA ENST00000511616.1 - 0 521 NR_027112.2 CGTGCGCGCGcacacacacacaca 0.412 2 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9874116 9874119 + RNA DEL AAGG AAGG - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:9874116_9874119delAAGG ENST00000511616.1 - 0 521 RP11-447B18.1_ENST00000508097.1_lincRNA NR_027112.2 ggaaggaagaaaggaaggaaggga 0.417 3 4 --- --- --- --- LOC101929505 101929505 broad.mit.edu 37 5 16436373 16436374 + RNA INS - - CCGGCACT rs138065177 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:16436373_16436374insCCGGCACT ENST00000513157.1 - 0 961 actcggcacgcccggcactcgg 0.703 3 3 --- --- --- --- CTD-2306M5.1 0 broad.mit.edu 37 5 25437995 25437996 + RNA DEL CT CT - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:25437995_25437996delCT ENST00000507887.1 - 0 106 TAAACACATACTCTCTCTCTCC 0.322 2 4 --- --- --- --- CTD-2353F22.1 0 broad.mit.edu 37 5 36709463 36709463 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:36709463delA ENST00000512329.1 - 0 63 CTD-2353F22.1_ENST00000508745.1_RNA|CTD-2353F22.1_ENST00000510740.1_RNA GTGATGCCCTAACAGCGTGAG 0.423 2 4 --- --- --- --- OSMR-AS1 101929768 broad.mit.edu 37 5 38786801 38786813 + RNA DEL TCAAGCCATGACT TCAAGCCATGACT - rs71606511 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:38786801_38786813delTCAAGCCATGACT ENST00000514586.1 + 0 67 aagatacagctcaagccatgacttcaagccatg 0.549 3 4 --- --- --- --- LOC101926940 101926940 broad.mit.edu 37 5 39522842 39522843 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:39522842_39522843insG ENST00000604954.1 + 0 141 ggttgtttcttggggggtgtga 0.520 2 4 --- --- --- --- LOC102477328 102477328 broad.mit.edu 37 5 71933056 71933057 + RNA INS - - GAGG TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:71933056_71933057insGAGG ENST00000512573.1 - 0 103 gaaaggaaagagagggagggag 0.525 4 5 --- --- --- --- CTD-3179P9.1 0 broad.mit.edu 37 5 117524256 117524257 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:117524256_117524257insA ENST00000509367.1 + 0 125 ataggtataccaaaggctggga 0.386 2 4 --- --- --- --- CTC-255N20.1 0 broad.mit.edu 37 5 146574054 146574054 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:146574054delG ENST00000504297.1 - 0 322 tgaaggctctgggcagacaag 0.527 2 4 --- --- --- --- AC008691.1 0 broad.mit.edu 37 5 159187447 159187448 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:159187447_159187448insT ENST00000523311.1 - 0 122 tcctagtaatatttttttgtcc 0.450 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162750905 162750906 + RNA DEL AG AG - rs79928240 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:162750905_162750906delAG ENST00000503504.1 - 0 355 RP11-541P9.3_ENST00000458002.2_RNA AGAGGGAATCAGGGGTGTAGGG 0.426 4 2 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173883410 173883411 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr5:173883410_173883411insG ENST00000510234.1 + 0 194 tgccaggggctggggggaaagg 0.460 2 4 --- --- --- --- RP11-716O23.2 0 broad.mit.edu 37 6 11491456 11491457 + RNA DEL TG TG - rs58422600 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:11491456_11491457delTG ENST00000423149.1 + 0 417 gatatgtgcatgtgtgtgtgat 0.416 5 6 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29974192 29974193 + RNA DEL AG AG - rs72236528 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:29974192_29974193delAG ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA CCATCTCCGCAGAGTTTCTCTT 0.634 3 5 --- --- --- --- PBX2 5089 broad.mit.edu 37 6 32157642 32157643 + Frame_Shift_Ins INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:32157642_32157643insC ENST00000375050.4 - 1 320_321 c.50_51insG c.(49-51)gctfs p.A17fs NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 17 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 CCAATCCCAggcccccccggcc 0.797 2 4 --- --- --- --- RP1-261G23.5 0 broad.mit.edu 37 6 43695482 43695483 + RNA INS - - TGAATGAA rs70993412 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:43695482_43695483insTGAATGAA ENST00000424283.1 - 0 174 GATACGTTTGCtgaatgaatga 0.446 4 2 --- --- --- --- CYP39A1 51302 broad.mit.edu 37 6 46607308 46607308 + Frame_Shift_Del DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:46607308delC ENST00000275016.2 - 3 614 c.411delG c.(409-411)ggfs p.G137fs NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 137 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CAGTCAGTTGCCCAGTAAACT 0.373 12 75 --- --- --- --- CLVS2 134829 broad.mit.edu 37 6 123392232 123392233 + RNA INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:123392232_123392233insC ENST00000426074.2 + 0 789_790 actttgcatttccccccaatag 0.406 3 4 --- --- --- --- RP11-69I8.3 0 broad.mit.edu 37 6 132386036 132386036 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr6:132386036delT ENST00000435287.1 + 0 309 AGAAAGGGCATTTTTTTCATA 0.378 2 4 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34623024 34623025 + RNA DEL GT GT - rs60442756 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:34623024_34623025delGT ENST00000419766.1 - 0 160 NR_033664.1|NR_033665.1 GAAGTTTGACgtgtgtgtgtgt 0.396 3 6 --- --- --- --- GS1-124K5.11 0 broad.mit.edu 37 7 65995950 65995951 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:65995950_65995951insA ENST00000449307.2 - 0 2215_2216 actctatctccaaaaaaaaaag 0.574 2 4 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67646471 67646472 + RNA INS - - GG rs71074108 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:67646471_67646472insGG ENST00000446187.1 - 0 444 gaaagaaggaaggaaggaaggg 0.465 3 3 --- --- --- --- RP11-3P22.2 0 broad.mit.edu 37 7 68721028 68721028 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:68721028delT ENST00000435148.1 - 0 590 CCTTTCCTCCTTCTCCCACTG 0.517 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72070344 72070345 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:72070344_72070345insT ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity tgtttgttttgttttttttttt 0.416 3 4 --- --- --- --- LINC-PINT 378805 broad.mit.edu 37 7 130724867 130724867 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr7:130724867delA ENST00000451786.1 - 0 1655 ATAAAAGGGGAAAAAAAAGTA 0.388 2 4 --- --- --- --- CTD-2541M15.1 0 broad.mit.edu 37 8 6507008 6507009 + RNA INS - - G rs111718829 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:6507008_6507009insG ENST00000525186.1 - 0 291 CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA AGGacagaacagtgactatgga 0.480 6 3 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36532615 36532616 + RNA INS - - G rs116156307 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:36532615_36532616insG ENST00000524132.1 - 0 484 gtttggtgtgtgggggggtacg 0.426 3 4 --- --- --- --- LOC102723701 102723701 broad.mit.edu 37 8 37593486 37593487 + Frame_Shift_Ins INS - - A rs112819064 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:37593486_37593487insA ENST00000330539.1 - 2 877_878 c.529_530insT c.(529-531)tctfs p.S177fs ATCAAGGAGAGAAAAAAAAAAA 0.460 2 4 --- --- --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:52733063delT ENST00000360540.5 - 7 1328 c.922delA c.(922-924)tgfs p.M308fs PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.373 7 114 --- --- --- --- RP11-91I20.1 0 broad.mit.edu 37 8 61574013 61574013 + RNA DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:61574013delC ENST00000373384.4 + 0 365 GCATCAGACTCCTTGATTGTA 0.413 2 4 --- --- --- --- LINC01299 286186 broad.mit.edu 37 8 66441972 66441972 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:66441972delT ENST00000520902.1 - 0 2056 NR_033893.1 CCTCTGTGGATTTTTTTTGAC 0.488 2 4 --- --- --- --- CNBD1 168975 broad.mit.edu 37 8 88571817 88571820 + RNA DEL AGAA AGAA - rs3082607 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:88571817_88571820delAGAA ENST00000440763.2 - 0 205 agacacagagagaaagaaagaaag 0.353 2 4 --- --- --- --- LOC101927822 101927822 broad.mit.edu 37 8 134902223 134902223 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:134902223delA ENST00000520149.2 + 0 45 gttaggagttaatgagatagt 0.413 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138976365 138976366 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr8:138976365_138976366insA ENST00000518973.1 - 0 514 gactccatctcaaaaaaaaaaa 0.450 2 4 --- --- --- --- SPATA31A6 389730 broad.mit.edu 37 9 43627843 43627843 + Frame_Shift_Del DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:43627843delG ENST00000332857.6 - 4 872 c.844delC c.(844-846)ggfs p.R282fs SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TCCTGCCACCGGGAGGAGGCA 0.567 36 59 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66460027 66460027 + RNA DEL T T - rs112286776 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr9:66460027delT ENST00000424345.1 + 0 224 ttgggaaggcttttcacatat 0.343 7 17 --- --- --- --- SEC61A2 55176 broad.mit.edu 37 10 12203072 12203077 + In_Frame_Del DEL ATTCTT ATTCTT - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:12203072_12203077delATTCTT ENST00000379033.3 + 9 1200_1205 c.1053_1058delATTCTT c.(1051-1059)gcc>gc p.AFF351del SEC61A2_ENST00000298428.9_In_Frame_Del_p.AFF373del|SEC61A2_ENST00000304267.8_In_Frame_Del_p.AFF373del|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_In_Frame_Del_p.AFF307del NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 373 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GGTCATGTGCATTCTTCTCTAAGACA 0.427 7 70 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38568628 38568628 + RNA DEL G G - rs78671817 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr10:38568628delG ENST00000450980.1 + 0 144 AAACAACCCTGGGAACTGTAA 0.453 2 4 --- --- --- --- OR56B4 196335 broad.mit.edu 37 11 6129094 6129094 + Frame_Shift_Del DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:6129094delG ENST00000316529.3 + 1 181 c.86delG c.(85-87)tgfs p.W29fs NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W29*(1) NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCATGAGTGGCAGCACTGG 0.512 19 105 --- --- --- --- RP11-324J3.1 0 broad.mit.edu 37 11 7245841 7245842 + RNA DEL AG AG - rs71838519 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:7245841_7245842delAG ENST00000534653.1 + 0 75 ggagacagacagagagagagag 0.465 3 5 --- --- --- --- LINC00301 283197 broad.mit.edu 37 11 60411453 60411454 + RNA DEL AC AC - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:60411453_60411454delAC ENST00000320202.4 + 0 320 NR_026946.1 aggccagattacacacacacac 0.361 4 4 --- --- --- --- RP11-807H22.7 0 broad.mit.edu 37 11 71918436 71918436 + RNA DEL A A - rs35124063 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:71918436delA ENST00000378140.3 - 0 195 ATCGCCCattaaaaaaaaaaa 0.488 2 4 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90231320 90231320 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:90231320delT ENST00000562678.1 + 0 43 aagtgggcaattagtactatg 0.299 2 4 --- --- --- --- RP11-644L4.1 0 broad.mit.edu 37 11 95431682 95431683 + RNA INS - - T rs112869793 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:95431682_95431683insT ENST00000545912.1 + 0 125 TTTCTTCATTATTTTTTTCTCT 0.327 3 6 --- --- --- --- RP11-64D24.2 0 broad.mit.edu 37 11 114126756 114126757 + RNA INS - - TG rs77004081 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:114126756_114126757insTG ENST00000544925.1 - 0 56 tttttttttttgttttttttgc 0.342 3 4 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119341682 119341683 + RNA INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr11:119341682_119341683insC ENST00000498979.2 + 0 440 USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA NR_034160.1 TGCTGTGATGGCCCCCCCAATA 0.619 2 4 --- --- --- --- LINC00940 100271702 broad.mit.edu 37 12 2041888 2041889 + RNA INS - - G rs144077843 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:2041888_2041889insG ENST00000418006.1 - 0 121 NR_036546.1 CTGGGTGCTGTGGGGCCAAACC 0.599 7 0 --- --- --- --- LOC102724050 102724050 broad.mit.edu 37 12 54786946 54786947 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:54786946_54786947insA ENST00000550474.1 + 0 47 RP11-753H16.5_ENST00000552785.1_RNA ACTCCAGTATGAAAAACCCTTG 0.535 2 4 --- --- --- --- RP11-956E11.1 0 broad.mit.edu 37 12 69845056 69845057 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:69845056_69845057insA ENST00000549261.1 + 0 219 ccctgtccctcaaaaaaaaaaa 0.426 4 8 --- --- --- --- RP1-34H18.1 0 broad.mit.edu 37 12 77921221 77921222 + RNA INS - - A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:77921221_77921222insA ENST00000550042.1 + 0 574 cagagacacacaaaaaaagaca 0.381 2 4 --- --- --- --- RP11-530C5.1 0 broad.mit.edu 37 12 80153427 80153428 + RNA INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:80153427_80153428insC ENST00000551995.1 + 0 253 atgctatccctccccccctctc 0.470 2 4 --- --- --- --- RP11-474D1.4 0 broad.mit.edu 37 12 130517988 130517989 + RNA INS - - TT rs34078834 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr12:130517988_130517989insTT ENST00000561864.1 - 0 322 ctcaccattgatttttttctta 0.381 3 5 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34092212 34092213 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:34092212_34092213insG ENST00000454681.2 - 0 226 GACTAGAAGTTGGGGGCAGGAA 0.416 2 4 --- --- --- --- UTP14C 9724 broad.mit.edu 37 13 52603472 52603472 + Frame_Shift_Del DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr13:52603472delA ENST00000521776.2 + 2 1265 c.532delA c.(532-534)agfs p.K178fs ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 178 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CAGTGGCTGGAAGGCAAGAAC 0.527 15 94 --- --- --- --- RP11-964E11.2 0 broad.mit.edu 37 14 37126056 37126056 + RNA DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:37126056delC ENST00000555107.1 - 0 258 TCTTGCTTTTCCCACACGCAG 0.562 OREG0022661 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65734544 65734545 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:65734544_65734545insG ENST00000553754.1 - 0 368 GTGTGTGTCGTGGGGGGGACTG 0.460 2 4 --- --- --- --- LINC01146 283587 broad.mit.edu 37 14 88532179 88532179 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:88532179delG ENST00000556033.1 + 0 195 NR_046094.1 AAGTCCTTCTGGAGGTTCACT 0.438 2 4 --- --- --- --- LOC100129345 100129345 broad.mit.edu 37 14 98100747 98100748 + RNA INS - - A rs34515772 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr14:98100747_98100748insA ENST00000355909.3 - 0 625 NR_033943.1 ATGTTTCTATCAAAAAAAAAAA 0.347 3 2 --- --- --- --- LINC00929 503519 broad.mit.edu 37 15 26364297 26364297 + RNA DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:26364297delC ENST00000556159.1 + 0 303 NR_038851.1 CATGCCCCTTCCAGTCAGGCG 0.567 3 4 --- --- --- --- CYP1A1 1543 broad.mit.edu 37 15 75013626 75013627 + Frame_Shift_Del DEL AG AG - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:75013626_75013627delAG ENST00000379727.3 - 5 1277_1278 c.1079_1080delCT c.(1078-1080)tfs p.S360fs CYP1A1_ENST00000564596.1_Frame_Shift_Del_p.S99fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.S360fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.S360fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.S360fs P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 360 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GGGATCTGTCAGAGAGCCGGGG 0.609 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 7 20 --- --- --- --- EFTUD1P1 648809 broad.mit.edu 37 15 84760507 84760507 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr15:84760507delT ENST00000558187.1 + 0 412 TTAGGTACCCttttttttttt 0.478 2 4 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899222 30899223 + Frame_Shift_Ins INS - - G rs150838242 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:30899222_30899223insG ENST00000215115.4 - 6 1632_1633 c.617_618insC c.(616-618)cctfs p.P206fs MIR4519_ENST00000565573.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) TGCGCTTGAGTGGGGGGGCACC 0.619 7 76 --- --- --- --- CTD-3032H12.2 0 broad.mit.edu 37 16 54977542 54977543 + RNA INS - - T rs11414609 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:54977542_54977543insT ENST00000560487.1 + 0 179 GTTTTGTTTTATTTTTTTTTCT 0.351 2 4 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60081049 60081049 + RNA DEL T T - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:60081049delT ENST00000568279.1 + 0 467 Ctttctttccttttttttttt 0.418 2 4 --- --- --- --- RP11-256I9.3 0 broad.mit.edu 37 16 65278007 65278008 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:65278007_65278008insT ENST00000562656.1 + 0 125 CTTTCATTGAGTTTTTCTTCAT 0.351 2 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80191431 80191434 + RNA DEL AGTC AGTC - rs35664269 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr16:80191431_80191434delAGTC ENST00000565050.1 - 0 717 RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.1_ENST00000567851.1_lincRNA cagaggacatagtcagcaagtgtg 0.451 2 4 --- --- --- --- RABEP1 9135 broad.mit.edu 37 17 5250110 5250110 + Frame_Shift_Del DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:5250110delA ENST00000262477.6 + 6 898 c.674delA c.(673-675)gafs p.E225fs RABEP1_ENST00000408982.2_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000341923.6_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000546142.2_Frame_Shift_Del_p.E225fs|RABEP1_ENST00000537505.1_Frame_Shift_Del_p.E182fs NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 225 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 CATTATCTGGAAGCTGAGAAA 0.348 15 31 --- --- --- --- COX10-AS1 100874058 broad.mit.edu 37 17 13709039 13709040 + RNA INS - - AGGA rs12938908 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:13709039_13709040insAGGA ENST00000577798.2 - 0 373 COX10-AS1_ENST00000602743.1_RNA|COX10-AS1_ENST00000582752.2_RNA ggaaggaaggtaggaaggaagg 0.416 8 4 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20867757 20867758 + RNA INS - - CG rs77675313 by1000genomes TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:20867757_20867758insCG ENST00000582583.1 + 0 799 RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-381P6.1_ENST00000581673.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA acacacacacatacacacaAGt 0.431 8 0 --- --- --- --- LRRC37A11P 342666 broad.mit.edu 37 17 37188333 37188334 + RNA INS - - G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:37188333_37188334insG ENST00000425901.2 + 0 2175_2176 NR_033753.2 TCTCCAGACCTGGGGCTTGCCA 0.500 14 64 --- --- --- --- CTD-2033D24.2 0 broad.mit.edu 37 17 53606971 53606972 + RNA DEL AC AC - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:53606971_53606972delAC ENST00000455347.1 - 0 135 tactaaaaatacacacacacac 0.525 4 5 --- --- --- --- SOX9-AS1 400618 broad.mit.edu 37 17 70047870 70047870 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr17:70047870delG ENST00000540802.1 - 0 272 aatttaagatgggatcctgga 0.423 2 4 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22326225 22326226 + RNA DEL AC AC - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:22326225_22326226delAC ENST00000582650.1 + 0 235 Gcacacacagacacacacacac 0.485 2 4 --- --- --- --- AQP4-AS1 147429 broad.mit.edu 37 18 24422701 24422702 + RNA DEL AG AG - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:24422701_24422702delAG ENST00000582605.1 + 0 305 AQP4-AS1_ENST00000579964.1_RNA GGGGTGGGGAagagagagagag 0.431 3 5 --- --- --- --- RP11-879F14.2 0 broad.mit.edu 37 18 59272630 59272632 + RNA DEL AAG AAG - rs12458063 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr18:59272630_59272632delAAG ENST00000587754.1 - 0 192 RP11-879F14.1_ENST00000590968.1_lincRNA aaaaaaaaaaaagaaaaaaaaaa 0.330 2 4 --- --- --- --- ZNF814 730051 broad.mit.edu 37 19 58384768 58384768 + Frame_Shift_Del DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr19:58384768delC ENST00000435989.2 - 3 2224 c.1990delG c.(1990-1992)aafs p.E664fs ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 664 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TTCCCACATTCCCCACACTTA 0.403 12 20 --- --- --- --- IDH3B 3420 broad.mit.edu 37 20 2644634 2644634 + Frame_Shift_Del DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:2644634delC ENST00000380843.4 - 2 84 c.54delG c.(52-54)ggfs p.G18fs IDH3B_ENST00000380851.5_Frame_Shift_Del_p.G18fs|IDH3B_ENST00000488299.1_5'UTR NM_006899.3 NP_008830.2 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 18 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) CCCCAGGGTTCCCGGCGGAGA 0.607 11 43 --- --- --- --- LINC01270 284751 broad.mit.edu 37 20 48910385 48910385 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:48910385delG ENST00000371639.3 + 0 111 NR_034124.1 GCTGGGGGCCGGTGGTGGGCA 0.657 2 4 --- --- --- --- MC3R 4159 broad.mit.edu 37 20 54824146 54824147 + Frame_Shift_Ins INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr20:54824146_54824147insC ENST00000243911.2 + 1 359_360 c.247_248insC c.(247-249)cgafs p.R83fs NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 120 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCTGGCGGTGGCCGACATGCTG 0.559 13 71 --- --- --- --- IGHV1OR21-1 390530 broad.mit.edu 37 21 10862645 10862645 + RNA DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:10862645delG ENST00000559480.1 + 0 24 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGAGGATCCTGTTTTTGGTGG 0.507 15 296 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11031726 11031726 + RNA DEL A A - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:11031726delA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aacctgctacaagagtctact 0.453 4 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11041957 11041963 + RNA DEL AGTTTTG AGTTTTG - rs60976621 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:11041957_11041963delAGTTTTG ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATTTCATATAGTTTTGAGTTTTGAAA 0.309 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11056427 11056427 + RNA DEL G G - rs137953514 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:11056427delG ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) acatatttttggggggtctct 0.303 5 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11084853 11084854 + RNA INS - - A rs3048283 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:11084853_11084854insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCAAATTCTGAAAAAAACAAG 0.455 3 4 --- --- --- --- LINC00189 193629 broad.mit.edu 37 21 30603873 30603873 + RNA DEL T T - rs72218621 TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr21:30603873delT ENST00000420364.1 + 0 767 NR_027072.2 atcacaggtcttttttttttt 0.468 4 2 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20936975 20936976 + Frame_Shift_Ins INS - - C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr22:20936975_20936976insC ENST00000263205.7 + 10 1419_1420 c.1350_1351insC c.(1348-1353)ccccccfs p.PP450fs MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Frame_Shift_Ins_p.PP384fs|MED15_ENST00000425759.2_Frame_Shift_Ins_p.PP299fs|MED15_ENST00000541476.1_Frame_Shift_Ins_p.PP384fs|MED15_ENST00000292733.7_Frame_Shift_Ins_p.PP410fs|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Frame_Shift_Ins_p.PP339fs NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 450 Poly-Pro.|Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CGATGCCCCCTCCCCCCCAGCC 0.728 3 3 --- --- --- --- LARGE 9215 broad.mit.edu 37 22 33602389 33602390 + RNA INS - - T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chr22:33602389_33602390insT ENST00000421232.1 - 0 150 AATTGCATGACTTTTTTTTTCC 0.455 2 4 --- --- --- --- RP11-309M23.1 0 broad.mit.edu 37 X 951194 951197 + RNA DEL TCTC TCTC - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:951194_951197delTCTC ENST00000420865.1 + 0 207 TGGctctctttctctctctctctc 0.574 2 4 --- --- --- --- RP3-410B11.1 0 broad.mit.edu 37 X 17992366 17992366 + RNA DEL C C - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrX:17992366delC ENST00000453902.1 - 0 305 TCTCCTTTTTCCCCAGGTATT 0.433 2 4 --- --- --- --- USP9Y 8287 broad.mit.edu 37 Y 14959240 14959240 + Frame_Shift_Del DEL G G - TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c303c9d-6cda-490d-a64d-21bc40b064f3 5448ca84-dc5f-435d-866b-1d6366803929 g.chrY:14959240delG ENST00000338981.3 + 42 7997 c.7052delG c.(7051-7053)tgfs p.W2351fs USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2351 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GAGGACTCCTGGCAGACTCAC 0.358 15 20 --- --- --- ---