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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NISCH 11188 broad.mit.edu 37 3 52526404 52526404 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:52526404C>T uc003ded.4 + 20 4555 c.4421C>T c.(4420-4422)cCc>cTc p.P1474L NISCH_uc003dee.4_Missense_Mutation_p.P963L|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1474 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GTGTTTGTCCCCAGTGCTGAG 0.652000 68 33 0 0 0.0024448 0 0 EDIL3 10085 broad.mit.edu 37 5 83362376 83362376 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:83362376G>A uc003kio.1 - 6 1120 c.701C>T c.(700-702)gCc>gTc p.A234V EDIL3_uc003kip.1_Missense_Mutation_p.A224V|EDIL3_uc011ctt.1_Missense_Mutation_p.A11V NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 234 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) AATCCTCTTGGCTCCTTGGGT 0.373000 42 24 0 0 0.000586117 0 0 DPPA2 151871 broad.mit.edu 37 3 109027921 109027921 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:109027921G>A uc003dxo.3 - 4 595 c.348C>T c.(346-348)atC>atT p.I116I NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 116 SAP. nucleus nucleic acid binding p.I116I(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GATAAACTTCGATTTTCTTAG 0.408000 98 47 0 0 0.000781405 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48565258 48565258 + Missense_Mutation SNP G C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:48565258G>C uc010xzd.2 - 13 1621 c.1284C>G c.(1282-1284)ttC>ttG p.F428L PLA2G4C_uc002phw.3_Missense_Mutation_p.F353L|PLA2G4C_uc010elr.3_Missense_Mutation_p.F418L|PLA2G4C_uc002phx.3_Missense_Mutation_p.F418L NM_001159322 NP_001152794 Q9UP65 PA24C_HUMAN Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA. 418 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CGATTACCTCGAAAGGATCTC 0.627000 43 52 0 0 0.000781405 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17191054 17191054 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:17191054G>A uc001mmq.4 - 0 300 c.235C>T c.(235-237)Cct>Tct p.P79S PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.P79S|PIK3C2A_uc009ygv.1_Missense_Mutation_p.P79S NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 79 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TCTGATTCAGGAAACACCATG 0.393000 95 37 0 0 0.000692331 0 0 A1CF 29974 broad.mit.edu 37 10 52603882 52603882 + Splice_Site SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:52603882C>T uc001jjj.3 - 4 288 c.100_splice c.e4-1 p.E34_splice A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 34 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.E42K(2)|p.E34K(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGTCCATTTTCCTGCAAATCC 0.413000 45 28 0 0 0.00209593 0 0 DIEXF 27042 broad.mit.edu 37 1 210001462 210001462 + Missense_Mutation SNP A T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:210001462A>T uc001hhr.2 + 0 151 c.54A>T c.(52-54)aaA>aaT p.K18N DIEXF_uc009xcu.2_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA. 18 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CCCTAACTAAAAAGCAGAAGA 0.547000 OREG0014221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 24 0 0 0.000878237 0 0 CNOT6 57472 broad.mit.edu 37 5 179994990 179994990 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:179994990G>A uc003mlx.3 + 8 1363 c.1014G>A c.(1012-1014)tcG>tcA p.S338S CNOT6_uc010jld.3_Silent_p.S338S|CNOT6_uc010jle.3_Silent_p.S333S NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 338 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GGAAGGAATCGATTGAAATGC 0.413000 41 19 0 0 0.000586117 0 0 PHKA1 5255 broad.mit.edu 37 X 71870282 71870282 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:71870282G>A uc004eax.4 - 12 1583 c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C PHKA1_uc004eay.4_Missense_Mutation_p.R428C|PHKA1_uc011mqi.2_Missense_Mutation_p.R428C NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 428 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GAAAACCTGCGATTCAGGGGA 0.383000 10 13 0 0 0.000422831 0 0 RASSF3 283349 broad.mit.edu 37 12 65088620 65088621 + Silent DNP CC TT TT TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:65088620_65088621CC>TT uc001ssd.3 + 4 765_766 c.645_646CC>TT c.(643-648)aacctg>aaTTtg p.215_216NL>NL RASSF3_uc009zqn.3_Non-coding_Transcript|RASSF3_uc001sse.3_Silent_p.145_146NL>NL NM_178169 NP_835463 Q86WH2 RASF3_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA. 215 SARAH. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) AGCTGCAGAACCTGAAGAGGCG 0.540000 15 18 0 0 6.4e-05 0 0 KCNU1 157855 broad.mit.edu 37 8 36673164 36673164 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:36673164G>A uc010lvw.3 + 8 1041 c.954G>A c.(952-954)aaG>aaA p.K318K KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 318 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) TTGCTAACAAGAGGAAATACA 0.299000 22 24 0 0 0.000878237 0 0 PRSS16 10279 broad.mit.edu 37 6 27216928 27216928 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:27216928G>A uc003nja.3 + 3 402 c.387G>A c.(385-387)ctG>ctA p.L129L PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.L19L|PRSS16_uc010jqr.1_Silent_p.L19L|PRSS16_uc003njd.3_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 129 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGATAAGCCTGGAACACAGAT 0.597000 50 27 0 0 0.00106085 0 0 OR1F1 4992 broad.mit.edu 37 16 3254944 3254944 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr16:3254944G>A uc010uwu.2 + 0 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TCCACAAAGGGAAGGTGGAAA 0.512000 128 55 0 0 0.000781405 0 0 ALOX5 240 broad.mit.edu 37 10 45878120 45878120 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:45878120G>A uc001jce.3 + 1 439 c.340G>A c.(340-342)Gat>Aat p.D114N ALOX5_uc009xmt.3_Missense_Mutation_p.D114N|ALOX5_uc010qfg.2_Missense_Mutation_p.D114N|ALOX5_uc021ppr.1_Missense_Mutation_p.D114N NM_000698 NP_000689 P09917 LOX5_HUMAN Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA. 114 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGTCCTGAGGGATGGACGCGG 0.582000 13 4 0 0 0.00024832 0 0 DACH1 1602 broad.mit.edu 37 13 72063185 72063185 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:72063185G>A uc021rkj.1 - 6 2095 c.1672C>T c.(1672-1674)Cct>Tct p.P558S DACH1_uc021rkk.1_Missense_Mutation_p.P410S|DACH1_uc021rkl.1_Missense_Mutation_p.P356S NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 608 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AACAGAAAAGGAGATGGAAAA 0.478000 117 49 0 0 0.000781405 0 0 LRRC19 64922 broad.mit.edu 37 9 26995832 26995832 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:26995832C>T uc003zqh.3 - 4 911 c.800G>A c.(799-801)gGa>gAa p.G267E IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA. 267 integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) CCAACTTTTTCCAAGAGGTTC 0.338000 26 11 0 0 0.000978159 0 0 CACNA1B 774 broad.mit.edu 37 9 140972591 140972591 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:140972591G>A uc004cog.3 + 34 5114 c.4969G>A c.(4969-4971)Gag>Aag p.E1657K CACNA1B_uc022bqn.1_Missense_Mutation_p.E1657K|CACNA1B_uc004coi.3_Missense_Mutation_p.E871K|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.E14K NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1659 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.E1659*(2)|p.E23*(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCCTGGCACGAGATCATGCT 0.607000 16 10 0 0 0.000673444 0 0 PDE1C 5137 broad.mit.edu 37 7 31887623 31887623 + Missense_Mutation SNP C A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:31887623C>A uc003tcm.2 - 8 1400 c.939G>T c.(937-939)gaG>gaT p.E313D PDE1C_uc003tcn.1_Missense_Mutation_p.E313D|PDE1C_uc003tco.2_Missense_Mutation_p.E373D|PDE1C_uc003tcr.3_Missense_Mutation_p.E313D|PDE1C_uc003tcs.3_Missense_Mutation_p.E313D NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 313 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TATTCATTTCCTCGTCATCTT 0.413000 64 35 3.11337e-16 1.75973e-15 0.00283554 1 0 TEX13A 56157 broad.mit.edu 37 X 104464200 104464200 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:104464200G>A uc004ema.3 - 3 782 c.670C>T c.(670-672)Ccc>Tcc p.P224S IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.S226S NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN Homo sapiens testis expressed 13A (TEX13A), mRNA. 226 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TCCACGTGGGGGAACTGGGTC 0.612000 8 12 0 0 0.000978159 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118335 118335 + RNA SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrGL000205.1:118335G>A uc002kgk.4 + 0 c.1713G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTGGCTCCAGGAGGACTTCTG 0.542000 28 4 0 0 0.000602214 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54596844 54596844 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:54596844G>A uc003dhf.3 + 5 610 c.562G>A c.(562-564)Ggg>Agg p.G188R CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G94R|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 188 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AATTGTCAATGGGGTTTATTG 0.408000 17 8 0 0 0.000157383 0 0 LCE1C 353133 broad.mit.edu 37 1 152777800 152777800 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:152777800C>T uc021ozi.1 - 0 155 c.155G>A c.(154-156)tGt>tAt p.C52Y LCE1C_uc001fap.1_Missense_Mutation_p.C52Y NM_178351 NP_848128 Q5T751 LCE1C_HUMAN Homo sapiens late cornified envelope 1C (LCE1C), mRNA. 52 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGGAGCCACAGCAGCCTCC 0.657000 50 20 0 0 0.00188189 0 0 VAV3 10451 broad.mit.edu 37 1 108315413 108315413 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:108315413C>T uc001dvk.1 - 4 553 c.499G>A c.(499-501)Gat>Aat p.D167N VAV3_uc010ouw.1_Missense_Mutation_p.D167N|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.D167N NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. 167 B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCACCTTCATCTTCCCCATAA 0.358000 49 30 0 0 0.000692331 0 0 HERC2 8924 broad.mit.edu 37 15 28408339 28408339 + Silent SNP C A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:28408339C>A uc001zbj.3 - 68 10753 c.10647G>T c.(10645-10647)gtG>gtT p.V3549V NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3549 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAGGTCTACCACCACACGAG 0.597000 47 23 3.5997e-14 2.02483e-13 0.00229938 1 0 KCNC2 3747 broad.mit.edu 37 12 75445031 75445031 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:75445031C>T uc001sxg.1 - 2 1298 c.754G>A c.(754-756)Gaa>Aaa p.E252K KCNC2_uc009zry.3_Missense_Mutation_p.E252K|KCNC2_uc001sxe.3_Missense_Mutation_p.E252K|KCNC2_uc001sxf.3_Missense_Mutation_p.E252K|KCNC2_uc010stw.1_Missense_Mutation_p.E252K NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 252 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TTGAAAGCTTCATGTGTTTCC 0.343000 13 13 0 0 0.00136819 0 0 FAM214A 56204 broad.mit.edu 37 15 52970206 52970206 + Silent SNP G T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:52970206G>T uc002acg.4 - 1 166 c.13C>A c.(13-15)Cga>Aga p.R5R FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_5'UTR NM_019600 NP_062546 Q32MH5 K1370_HUMAN Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA. 5 CATTTACCTCGGTCTGGCTTC 0.453000 51 25 6.38683e-12 3.5754e-11 0.001512 1 0 TSPEAR 54084 broad.mit.edu 37 21 45929254 45929254 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr21:45929254C>T uc002zfe.1 - 9 1648 c.1582G>A c.(1582-1584)Gac>Aac p.D528N TSPEAR_uc010gpv.1_Missense_Mutation_p.D460N NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 528 cell adhesion extracellular region structural molecule activity p.D528N(4) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ACCTCCCAGTCTGCAGCACCG 0.602000 13 6 0 0 0.000157383 0 0 CARD11 84433 broad.mit.edu 37 7 2979560 2979560 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:2979560G>A uc003smv.3 - 5 1021 c.687C>T c.(685-687)atC>atT p.I229I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 229 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTAGCTGATCGATCTGAAATA 0.498000 Mis DLBCL 54 51 0 0 0.000781405 0 0 WDHD1 11169 broad.mit.edu 37 14 55475343 55475343 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr14:55475343G>A uc001xbm.2 - 4 526 c.436C>T c.(436-438)Cct>Tct p.P146S WDHD1_uc001xbn.2_Missense_Mutation_p.P23S NM_007086 NP_009017 O75717 WDHD1_HUMAN Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA. 146 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 ATGTCCTTAGGATCAAAGGAA 0.318000 76 35 0 0 0.00170553 0 0 FBXO10 26267 broad.mit.edu 37 9 37541670 37541670 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:37541670G>A uc004aac.3 - 1 224 c.144C>T c.(142-144)gcC>gcT p.A48A FBXO10_uc004aab.3_Silent_p.A32A|FBXO10_uc004aad.3_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 32 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GTTCATACCAGGCCCTGCATA 0.627000 26 8 0 0 0.000274275 0 0 OR11A1 26531 broad.mit.edu 37 6 29395290 29395290 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:29395290C>T uc003nmg.3 - 0 220 c.129G>A c.(127-129)ggG>ggA p.G43G NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 TCAGCATATTCCCTATGATGA 0.403000 39 16 0 0 0.000422831 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538044 27538044 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:27538044C>T uc001its.2 - 0 3192 c.1349G>A c.(1348-1350)cGa>cAa p.R450Q Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA. AGTCAGTTTTCGATGCAGAGT 0.498000 85 56 0 0 0.000781405 0 0 IGHE 3497 broad.mit.edu 37 14 106068010 106068010 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr14:106068010G>A uc001yrw.1 - 1 110 c.98C>T c.(97-99)cCc>cTc p.P33L abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_5'UTR|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; GGCATTGGAGGGAATGTTTTT 0.627000 11 3 0 0 0.000602214 0 0 CTNNA3 29119 broad.mit.edu 37 10 67680226 67680226 + Missense_Mutation SNP C T T rs138237676 TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:67680226C>T uc009xpn.1 - 17 2673 c.2550G>A c.(2548-2550)atG>atA p.M850I CTNNA3_uc001jmw.2_Missense_Mutation_p.M850I NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 850 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CAGGAGCCTTCATTCTCCACA 0.478000 73 44 0 0 0.000781405 0 0 POLI 11201 broad.mit.edu 37 18 51810326 51810326 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr18:51810326C>T uc002lfj.4 + 6 1078 c.1010C>T c.(1009-1011)tCa>tTa p.S337L POLI_uc010xds.2_Missense_Mutation_p.S258L|POLI_uc002lfk.4_Missense_Mutation_p.S234L|POLI_uc010dpg.3_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 337 S -> T (in Ref. 4; CAB66605). DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAAAAATGTTCATCTGAAGTT 0.284000 DNA polymerases (catalytic subunits) 17 6 0 0 0.00198382 0 0 CSMD2 114784 broad.mit.edu 37 1 34180213 34180213 + Nonsense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:34180213C>T uc001bxm.1 - 20 3557 c.3380G>A c.(3379-3381)tGg>tAg p.W1127* CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1087* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1087 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGCGAGCTCCACAGGCGCCG 0.592000 139 54 0 0 0.000781405 0 0 ITGAE 3682 broad.mit.edu 37 17 3656589 3656589 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:3656589C>T uc002fwo.4 - 13 1762 c.1663G>A c.(1663-1665)Gag>Aag p.E555K NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 555 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CCCACCTGCTCGCTGAGACGG 0.572000 12 4 0 0 0.00024832 0 0 AHR 196 broad.mit.edu 37 7 17379647 17379647 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:17379647C>T uc011jxz.1 + 9 2811 c.2198C>T c.(2197-2199)tCt>tTt p.S733F NM_001621 NP_001612 P35869 AHR_HUMAN Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. 733 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCCACTACTTCTAGTTTAGAA 0.393000 62 35 0 0 0.00283554 0 0 CDAN1 146059 broad.mit.edu 37 15 43028535 43028535 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:43028535G>A uc001zql.3 - 1 651 c.534C>T c.(532-534)ttC>ttT p.F178F CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 178 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTACGGGAGGGAACTCCTCCA 0.667000 14 11 0 0 0.000978159 0 0 DTNA 1837 broad.mit.edu 37 18 32398137 32398137 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr18:32398137C>T uc010dmn.1 + 6 720 c.719C>T c.(718-720)cCg>cTg p.P240L DTNA_uc002kxu.2_Missense_Mutation_p.P240L|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.P240L|DTNA_uc002kxw.2_Missense_Mutation_p.P240L|DTNA_uc002kxx.2_Missense_Mutation_p.P240L|DTNA_uc002kxz.2_Missense_Mutation_p.P240L|DTNA_uc002kxy.2_Missense_Mutation_p.P240L|DTNA_uc010dmj.3_Missense_Mutation_p.P240L|DTNA_uc002kyb.4_Missense_Mutation_p.P240L|DTNA_uc010dml.3_Missense_Mutation_p.P240L|DTNA_uc010dmm.3_Missense_Mutation_p.P240L|DTNA_uc010xby.1_5'UTR|DTNA_uc021uiq.1_5'UTR|DTNA_uc021uir.1_5'UTR|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 240 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GTCTTCCATCCGGTTGAGTGT 0.448000 64 24 0 0 0.000878237 0 0 C12orf77 196415 broad.mit.edu 37 12 25149189 25149189 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:25149189G>A uc001rgf.3 - 1 293 c.88C>T c.(88-90)Ctg>Ttg p.L30L NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA. 30 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 AGTGGATCCAGAATTTGAATA 0.438000 73 20 0 0 0.00188189 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:39305619G>T uc002hwb.3 - 0 436 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA. 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(4) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 15 4 0.00024832 0.00137694 0.00024832 1 0 IFNAR2 3455 broad.mit.edu 37 21 34617374 34617374 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr21:34617374C>T uc002yrd.3 + 3 544 c.216C>T c.(214-216)atC>atT p.I72I IFNAR2_uc002yrb.3_Silent_p.I72I|IFNAR2_uc002yrc.3_Silent_p.I72I|IFNAR2_uc002yre.3_Silent_p.I72I|IFNAR2_uc002yrf.3_Silent_p.I72I NM_207585 NP_997468 P48551 INAR2_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA. 72 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TGTATACAATCATGAGGTTGG 0.373000 49 25 0 0 0.001512 0 0 TKTL2 84076 broad.mit.edu 37 4 164394478 164394478 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:164394478C>T uc003iqp.4 - 0 570 c.409G>A c.(409-411)Gct>Act p.A137T NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 137 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAGTATAAGCCATTCCACAT 0.537000 63 22 0 0 0.00047179 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566726 45566726 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr18:45566726G>A uc010dnv.3 - 2 1255 c.819C>T c.(817-819)ttC>ttT p.F273F ZBTB7C_uc002ldb.3_Silent_p.F251F|ZBTB7C_uc010dnu.3_Silent_p.F260F|ZBTB7C_uc010dnw.3_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 251 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGTCCGGGGCGAATGGAGACA 0.597000 20 13 0 0 0.00185496 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130284706 130284707 + Missense_Mutation DNP GG AA AA TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:130284706_130284707GG>AA uc001qgg.4 - 4 1643_1644 c.1285_1286CC>TT c.(1285-1287)cct>TTt p.P429F ADAMTS8_uc001qgf.3_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 429 Peptidase M12B. YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806). negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGCCGCAGCAGGGGCATCCAGG 0.644000 16 8 0 0 6.4e-05 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443553 5443553 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:5443553C>T uc010qzd.2 + 0 213 c.123C>T c.(121-123)atC>atT p.I41I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATCTCCATCATGGGCAATA 0.547000 110 37 0 0 0.00111076 0 0 FASLG 356 broad.mit.edu 37 1 172628641 172628641 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:172628641G>A uc001gis.3 + 0 457 c.300G>A c.(298-300)ggG>ggA p.G100G FASLG_uc001git.3_Silent_p.G100G NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 100 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 TGGGCCTGGGGATGTTTCAGC 0.572000 21 7 0 0 0.000274275 0 0 ARID2 196528 broad.mit.edu 37 12 46123826 46123827 + Splice_Site DNP GG AA AA TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:46123826_46123827GG>AA uc001ros.1 + 2 93 c.93_splice c.e2-1 p.G31_splice ARID2_uc001ror.3_Splice_Site_p.G31_splice|LOC400027_uc001roq.3_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 31 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTCTCCCGCAGGTCGCCTTTTA 0.658000 """N, S, F""" hepatocellular carcinoma 6 10 0 0 6.4e-05 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450450 105450450 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:105450450G>A uc022cca.1 + 0 1025 c.1025G>A c.(1024-1026)aGa>aAa p.R342K MUM1L1_uc004emg.2_Missense_Mutation_p.R342K|MUM1L1_uc004emf.2_Missense_Mutation_p.R342K NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 342 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AATTTTCAGAGACTGGATTTT 0.413000 7 3 0 0 6.4e-05 0 0 EPHA7 2045 broad.mit.edu 37 6 94124440 94124440 + Missense_Mutation SNP A G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:94124440A>G uc003poe.3 - 1 384 c.143T>C c.(142-144)aTt>aCt p.I48T EPHA7_uc003pof.3_Missense_Mutation_p.I48T|EPHA7_uc011eac.2_Missense_Mutation_p.I48T|EPHA7_uc003pog.4_Missense_Mutation_p.I48T NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 48 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGGAGAGGAAATCCACTCCAA 0.353000 41 20 0 0 0.00229938 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449578 85449578 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:85449578G>A uc001tac.3 + 7 1118 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q LRRIQ1_uc021rbo.1_Missense_Mutation_p.R214Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.R311Q NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 336 Glu-rich. p.R336Q(3) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) gaagaaaatcgaaaaagatta 0.328000 6 11 0 0 0.000673444 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481316 142481317 + Missense_Mutation DNP TG CA CA rs140068138 by1000genomes TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:142481316_142481317TG>CA uc011ksq.2 + 2 473_474 c.390_391TG>CA c.(388-393)actgcc>acCAcc p.A131T TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. CTCTGCCCACTGCCCCTCCAGC 0.550000 69 11 0 0 6.4e-05 0 0 C10orf96 374355 broad.mit.edu 37 10 118084575 118084575 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:118084575G>A uc001lck.3 + 1 303 c.52G>A c.(52-54)Gag>Aag p.E18K NM_198515 NP_940917 P0C7W6 CJ096_HUMAN Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA. 18 p.A17A(1) kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3) 18 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) GCATCAGGCGGAGGAGAGTCG 0.517000 33 12 0 0 0.000422831 0 0 SCAMP5 192683 broad.mit.edu 37 15 75309008 75309008 + Missense_Mutation SNP T G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:75309008T>G uc002azn.2 + 3 398 c.211T>G c.(211-213)Ttt>Gtt p.F71V SCAMP5_uc002azl.2_Missense_Mutation_p.F71V|SCAMP5_uc002azm.2_Missense_Mutation_p.F71V|SCAMP5_uc002azk.2_Missense_Mutation_p.F71V|SCAMP5_uc010uly.2_Intron NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 71 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 AGCCACCAACTTTGGCCTCGC 0.597000 57 19 0 0 0.000958276 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922526 5922527 + Missense_Mutation DNP GG AT AT TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:5922526_5922527GG>AT uc003zjq.4 - 7 3685_3686 c.3469_3470CC>AT c.(3469-3471)cca>ATa p.P1157I KIAA2026_uc010mht.3_Missense_Mutation_p.P332I NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN Homo sapiens KIAA2026 (KIAA2026), mRNA. 1157 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AACAGTTCCTGGTGAGTTGACA 0.376000 61 18 0 0 6.4e-05 0 0 LOC644669 644669 broad.mit.edu 37 18 15316743 15316743 + RNA SNP A G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr18:15316743A>G uc002ktd.1 - 4 c.291T>C Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. AGCCTCATCAAGTGTTCCTTC 0.428000 10 3 0 0 0.00116845 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545930 138545930 + Nonsense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:138545930C>T uc011kql.2 - 15 5251 c.5202G>A c.(5200-5202)tgG>tgA p.W1734* KIAA1549_uc011kqi.2_Nonsense_Mutation_p.W518*|KIAA1549_uc011kqk.2_Nonsense_Mutation_p.W518*|KIAA1549_uc011kqj.2_Nonsense_Mutation_p.W1734* NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1734 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AGAAGGACCCCCACTGGGTGG 0.617000 O BRAF pilocytic astrocytoma 37 34 0 0 0.00170553 0 0 PRMT1 3276 broad.mit.edu 37 19 50189399 50189399 + Missense_Mutation SNP C G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:50189399C>G uc010enf.2 + 8 938 c.809C>G c.(808-810)cCg>cGg p.P270R PRMT1_uc021uxu.1_Missense_Mutation_p.P246R|PRMT1_uc002ppe.3_Missense_Mutation_p.P252R|PRMT1_uc021uxv.1_Missense_Mutation_p.P184R|PRMT1_uc010yba.2_Non-coding_Transcript|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA. 251 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) TTCACCTCCCCGTTCTGCCTG 0.592000 17 11 0 0 0.00244969 0 0 DCTN1 1639 broad.mit.edu 37 2 74594835 74594835 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:74594835G>A uc002skx.3 - 17 2490 c.2172C>T c.(2170-2172)atC>atT p.I724I DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I590I|DCTN1_uc002sku.3_Silent_p.I590I|DCTN1_uc002skw.2_Silent_p.I717I|DCTN1_uc010ffd.3_Silent_p.I704I|DCTN1_uc002sky.3_Silent_p.I687I NM_004082 NP_004073 Q14203 DCTN1_HUMAN Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA. 724 G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GATAGTACTTGATGGCCTTGG 0.498000 23 13 0 0 0.000308642 0 0 CFHR1 3078 broad.mit.edu 37 1 196801077 196801077 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:196801077G>A uc001gtn.3 + 5 1055 c.941G>A c.(940-942)cGa>cAa p.R314Q CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R218Q NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 314 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 CACACATTGCGAACAACATGT 0.383000 41 14 0 0 0.000422831 0 0 SORCS3 22986 broad.mit.edu 37 10 107007001 107007001 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:107007001C>T uc001kyi.1 + 21 3244 c.3017C>T c.(3016-3018)tCa>tTa p.S1006L SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1006 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGCTTTTATCATTCTCTCCT 0.458000 22 15 0 0 0.000566183 0 0 MMP27 64066 broad.mit.edu 37 11 102575479 102575479 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:102575479C>T uc001phd.1 - 1 153 c.130G>A c.(130-132)Gaa>Aaa p.E44K NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 44 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CCTTCTATTTCAAGAGAGTAG 0.373000 19 6 0 0 0.00116845 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817824 131817824 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:131817824C>T uc003vra.4 - 30 5802 c.5573G>A c.(5572-5574)gGc>gAc p.G1858D PLXNA4_uc003vqz.4_Missense_Mutation_p.G143D NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1858 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTGTATTTGCCCACATAGGA 0.522000 69 29 0 0 0.00209593 0 0 ZNF233 353355 broad.mit.edu 37 19 44778746 44778746 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:44778746G>A uc021uvi.1 + 4 2039 c.1933G>A c.(1933-1935)Gag>Aag p.E645K ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.E460K|ZNF233_uc002oyz.2_Missense_Mutation_p.E645K NM_001207005 NP_001193934 A6NK53 ZN233_HUMAN Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA. 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) CCATACTGGAGAGAAACCATA 0.428000 19 11 0 0 0.000978159 0 0 FBXO40 51725 broad.mit.edu 37 3 121340500 121340500 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:121340500C>T uc003eeg.2 + 2 434 c.224C>T c.(223-225)tCc>tTc p.S75F NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 75 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TGCCCTCTGTCCATGTCCCGC 0.597000 42 11 0 0 0.000978159 0 0 PHF21B 112885 broad.mit.edu 37 22 45312300 45312300 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr22:45312300G>A uc003bfn.3 - 3 575 c.424C>T c.(424-426)Ccg>Tcg p.P142S PHF21B_uc011aqk.2_Missense_Mutation_p.P130S|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.P142S|PHF21B_uc011aqm.1_Missense_Mutation_p.P130S NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 142 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTGCTCAGCGGAGAGGCGAGG 0.726000 19 16 0 0 0.000422831 0 0 MEF2D 4209 broad.mit.edu 37 1 156444933 156444933 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:156444933G>A uc001fpc.3 - 8 1363 c.973C>T c.(973-975)Ccc>Tcc p.P325S MEF2D_uc001fpb.3_Missense_Mutation_p.P318S|MEF2D_uc001fpd.3_Missense_Mutation_p.P318S|MEF2D_uc009wsa.3_Intron|MEF2D_uc001fpe.1_Missense_Mutation_p.P325S NM_005920 NP_005911 Q14814 MEF2D_HUMAN Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA. 325 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAAGAGAAGGGGAGGCCCTGG 0.562000 54 29 0 0 0.001512 0 0 TTN 7273 broad.mit.edu 37 2 179597628 179597628 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:179597628C>T uc021vsy.1 - 51 12768 c.12543G>A c.(12541-12543)ggG>ggA p.G4181G TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G842G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5108 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) AAGTGAAATTCCCTGCATCAT 0.453000 23 7 0 0 0.000157383 0 0 AKAP11 11215 broad.mit.edu 37 13 42875110 42875110 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:42875110C>T uc001uys.2 + 7 2403 c.2228C>T c.(2227-2229)tCc>tTc p.S743F NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 743 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTCACGTTTTCCCCTTCTTTT 0.418000 40 11 0 0 0.00185496 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163623 12163623 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:12163623G>A uc003nac.3 + 8 7265 c.7086G>A c.(7084-7086)aaG>aaA p.K2362K HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 2362 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAGAACAGAAGCAGCAAATAA 0.547000 84 39 0 0 0.00111076 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215763 20215763 + Silent SNP T G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr14:20215763T>G uc010tkt.2 + 0 177 c.177T>G c.(175-177)ccT>ccG p.P59P NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P59L(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCAATCTCCTATGTATTATT 0.413000 183 31 0 0 0.00283554 0 0 NFE2 4778 broad.mit.edu 37 12 54686799 54686799 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:54686799C>T uc009znk.3 - 1 991 c.481G>A c.(481-483)Gag>Aag p.E161K NFE2_uc001sfq.3_Missense_Mutation_p.E161K|NFE2_uc001sfr.4_Missense_Mutation_p.E161K|NFE2_uc009znl.3_Missense_Mutation_p.E161K NM_006163 NP_006154 Q16621 NFE2_HUMAN Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA. 161 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter PML body|actin cytoskeleton|cytoplasm WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TCTGTCCCCTCCAGCTCAAGA 0.562000 38 31 0 0 0.00178596 0 0 HCLS1 3059 broad.mit.edu 37 3 121363721 121363722 + Missense_Mutation DNP CC GT GT TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:121363721_121363722CC>GT uc003eeh.4 - 4 467_468 c.342_343GG>AC c.(340-345)acggat>acACat p.D115H HCLS1_uc011bjj.2_Missense_Mutation_p.D115H|HCLS1_uc011bjk.1_Non-coding_Transcript|HCLS1_uc011bjl.1_Missense_Mutation_p.D115H NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 115 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TTGGCAGCATCCGTCTGAGAAG 0.515000 55 31 0 0 6.4e-05 0 0 POLI 11201 broad.mit.edu 37 18 51810329 51810329 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr18:51810329C>T uc002lfj.4 + 6 1081 c.1013C>T c.(1012-1014)tCt>tTt p.S338F POLI_uc010xds.2_Missense_Mutation_p.S259F|POLI_uc002lfk.4_Missense_Mutation_p.S235F|POLI_uc010dpg.3_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 338 DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAATGTTCATCTGAAGTTGAA 0.284000 DNA polymerases (catalytic subunits) 15 7 0 0 0.000157383 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100591818 100591818 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:100591818G>A uc002bvv.1 - 16 2493 c.2414C>T c.(2413-2415)aCc>aTc p.T805I NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 805 TSP type-1 2. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GCCGCTGTGGGTCCAGATGAA 0.517000 110 47 0 0 0.000781405 0 0 FAM50B 26240 broad.mit.edu 37 6 3850386 3850386 + Missense_Mutation SNP A G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:3850386A>G uc003mvu.3 + 1 453 c.341A>G c.(340-342)aAg>aGg p.K114R FAM50B_uc021ykt.1_Missense_Mutation_p.K114R NM_012135 NP_036267 Q9Y247 FA50B_HUMAN Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA. 114 nucleus p.R113R(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) cGCGAGCGCAAGCGTAAGATC 0.701000 23 3 0 0 0.00024832 0 0 PRDM5 11107 broad.mit.edu 37 4 121742401 121742401 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:121742401C>T uc003idn.3 - 3 650 c.400G>A c.(400-402)Gaa>Aaa p.E134K PRDM5_uc003ido.3_Missense_Mutation_p.E134K|PRDM5_uc010ine.3_Missense_Mutation_p.E134K|PRDM5_uc010inf.3_Missense_Mutation_p.E134K NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN Homo sapiens PR domain containing 5 (PRDM5), mRNA. 134 histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ATTTGCTGTTCTTCCTCCTCA 0.408000 91 33 0 0 0.00283554 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962005 1962005 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr16:1962005G>A uc002cnf.3 - 1 522 c.522C>T c.(520-522)cgC>cgT p.R174R TCRBV20S1_uc021tak.1_Intron NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA. 174 endometrium(2)|lung(2) 4 AGGCCAGGGCGCGGAAGCTGG 0.711000 4 8 0 0 0.000274275 0 0 GRM6 2916 broad.mit.edu 37 5 178409926 178409926 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:178409926G>A uc003mjr.3 - 8 2600 c.2421C>T c.(2419-2421)gcC>gcT p.A807A GRM6_uc003mjq.3_Silent_p.A210A NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 807 A -> V (in dbSNP:rs17078874). detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CAGCTGACTGGGCAGTGCCAA 0.547000 34 17 0 0 0.00188189 0 0 LPA 4018 broad.mit.edu 37 6 161026196 161026196 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:161026196C>T uc003qtl.3 - 18 2947 c.2827G>A c.(2827-2829)Gga>Aga p.G943R NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3451 Kringle 9. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.H942H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTCCATTTCCGTGGTAGCAC 0.463000 250 105 0 0 0.000781405 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7670356 7670356 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:7670356C>T uc002mgu.4 + 1 494 c.393C>T c.(391-393)ccC>ccT p.P131P CAMSAP3_uc002mgv.4_Silent_p.P131P NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 131 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GGCACCAGCCCATTCTCATGG 0.687000 7 12 0 0 0.000978159 0 0 DNAH7 56171 broad.mit.edu 37 2 196664189 196664189 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:196664189G>A uc002utj.4 - 54 10285 c.10184C>T c.(10183-10185)cCa>cTa p.P3395L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3395 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGCAACATTGGAATAACCTA 0.353000 65 32 0 0 0.00058488 0 0 CSPG4 1464 broad.mit.edu 37 15 75981813 75981813 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:75981813G>A uc002baw.3 - 2 1686 c.1593C>T c.(1591-1593)ccC>ccT p.P531P NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 531 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAAGGCATGAGGGCATGGGCA 0.617000 16 13 0 0 0.00136819 0 0 TULP4 56995 broad.mit.edu 37 6 158923932 158923932 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:158923932C>T uc003qrf.3 + 12 4594 c.3237C>T c.(3235-3237)gaC>gaT p.D1079D TULP4_uc003qrg.3_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 1079 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCGCCCGCGACCGCACCGACT 0.687000 49 15 0 0 0.00074312 0 0 NMBR 4829 broad.mit.edu 37 6 142397026 142397026 + Missense_Mutation SNP A G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:142397026A>G uc003qiu.3 - 2 1073 c.932T>C c.(931-933)gTt>gCt p.V311A NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 311 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AAAACTGAGAACCCGGGCAAC 0.443000 25 12 0 0 0.00136819 0 0 CERCAM 51148 broad.mit.edu 37 9 131186760 131186760 + Silent SNP C A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:131186760C>A uc004buz.4 + 4 1031 c.633C>A c.(631-633)ccC>ccA p.P211P CERCAM_uc004buy.1_Silent_p.P133P|CERCAM_uc010mxz.3_Silent_p.P133P|CERCAM_uc010mya.1_Silent_p.P52P NM_016174 NP_057258 Q5T4B2 GT253_HUMAN Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA. 211 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TCCGTGTCCCCATGGTCCACT 0.617000 46 17 1.02788e-11 5.72678e-11 0.000566183 1 0 GRIP2 80852 broad.mit.edu 37 3 14564565 14564565 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:14564565C>T uc021wtn.1 - 6 799 c.799G>A c.(799-801)Ggg>Agg p.G267R GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 170 PDZ 3. synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GACTTGTGCCCATCTTCATGG 0.622000 45 28 0 0 0.00283554 0 0 TTN 7273 broad.mit.edu 37 2 179467243 179467243 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:179467243G>A uc021vsy.1 - 231 47407 c.47182C>T c.(47182-47184)Cca>Tca p.P15728S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P9423S|TTN_uc021vta.1_Missense_Mutation_p.P9356S|TTN_uc021vtb.1_Missense_Mutation_p.P9231S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16655 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) TCTTTGGCTGGAGGTTTCCAT 0.403000 13 6 0 0 0.00198382 0 0 C8orf74 203076 broad.mit.edu 37 8 10555406 10555406 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:10555406C>T uc003wtd.1 + 2 568 c.539C>T c.(538-540)gCc>gTc p.A180V C8orf74_uc003wte.1_Non-coding_Transcript NM_001040032 NP_001035121 Q6P047 CH074_HUMAN Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA. 180 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) CAGAAGCGCGCCGACGTGCTG 0.706000 5 6 0 0 0.00116845 0 0 DNAH9 1770 broad.mit.edu 37 17 11711083 11711084 + Missense_Mutation DNP GG AA AA TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:11711083_11711084GG>AA uc002gne.3 + 43 8523_8524 c.8455_8456GG>AA c.(8455-8457)gga>AAa p.G2819K DNAH9_uc010coo.3_Missense_Mutation_p.G2113K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2819 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTCCCCGCGGGGAAATGCTCTG 0.520000 58 6 0 0 6.4e-05 0 0 ZNF384 171017 broad.mit.edu 37 12 6781567 6781567 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:6781567G>A uc010sfh.2 - 7 1313 c.1043C>T c.(1042-1044)tCc>tTc p.S348F ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA. 348 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 CTGGCAGTAGGAACAGTTGTA 0.652000 T """EWSR1, TAF15 """ ALL 32 15 0 0 0.000308642 0 0 CXorf22 170063 broad.mit.edu 37 X 35993478 35993478 + Nonsense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:35993478G>A uc004ddj.3 + 13 2535 c.2469G>A c.(2467-2469)tgG>tgA p.W823* CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 823 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAAAATTTTGGAAGTAGGGAT 0.294000 9 14 0 0 0.00185496 0 0 PTK6 5753 broad.mit.edu 37 20 62161433 62161433 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr20:62161433G>A uc002yfg.3 - 6 1206 c.1166C>T c.(1165-1167)cCa>cTa p.P389L PTK6_uc011aay.2_Missense_Mutation_p.P288L|PTK6_uc011aaz.1_Missense_Mutation_p.P151L NM_005975 NP_005966 Q13882 PTK6_HUMAN Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA. 389 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) GACAGTACCTGGGTAGGGCAC 0.637000 16 7 0 0 0.000274275 0 0 GPR116 221395 broad.mit.edu 37 6 46826199 46826199 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:46826199C>T uc003oyo.3 - 16 3730 c.3441G>A c.(3439-3441)ctG>ctA p.L1147L GPR116_uc011dwj.1_Silent_p.L702L|GPR116_uc011dwk.1_Silent_p.L576L|GPR116_uc003oyp.3_Silent_p.L1005L|GPR116_uc003oyq.3_Silent_p.L1147L|GPR116_uc010jzi.1_Silent_p.L819L NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1147 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGGTGGCTCCCAGCGTGATGA 0.562000 27 17 0 0 0.000422831 0 0 NRG1 3084 broad.mit.edu 37 8 32453417 32453417 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:32453417G>A uc003xiv.2 + 1 689 c.172G>A c.(172-174)Gaa>Aaa p.E58K NRG1_uc022ats.1_Missense_Mutation_p.E37K|NRG1_uc003xip.3_Missense_Mutation_p.E273K|NRG1_uc003xir.3_Missense_Mutation_p.E58K|NRG1_uc010lvl.3_Missense_Mutation_p.E58K|NRG1_uc010lvm.3_Missense_Mutation_p.E58K|NRG1_uc010lvn.3_Missense_Mutation_p.E58K|NRG1_uc003xis.3_Missense_Mutation_p.E58K|NRG1_uc011lbf.1_Missense_Mutation_p.E58K|NRG1_uc010lvo.2_Missense_Mutation_p.E58K|NRG1_uc003xiu.2_Missense_Mutation_p.E58K|NRG1_uc003xiw.2_Missense_Mutation_p.E58K|NRG1_uc003xit.2_Missense_Mutation_p.E58K|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.E24K|NRG1_uc010lvq.2_Missense_Mutation_p.E17K NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 58 Ig-like C2-type. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCTTCGGTGTGAAACCAGTTC 0.383000 41 51 0 0 0.000781405 0 0 XDH 7498 broad.mit.edu 37 2 31606641 31606641 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:31606641G>A uc002rnv.1 - 9 945 c.866C>T c.(865-867)tCg>tTg p.S289L NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 289 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATGTTCTACCGAATTCAGCTC 0.502000 23 14 0 0 0.000308642 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558309 113558309 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:113558309G>A uc010ljy.1 - 0 774 c.743C>T c.(742-744)cCt>cTt p.P248L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 248 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTGTCTGTTAGGAACTTCTTT 0.303000 122 80 0 0 0.000781405 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229045 8229045 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:8229045C>T uc003gkv.4 + 11 1725 c.1624C>T c.(1624-1626)Cgc>Tgc p.R542C SH3TC1_uc003gkw.4_Missense_Mutation_p.R466C|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 542 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCTGACTGGGCGCCTGGCACA 0.687000 9 4 0 0 0.00024832 0 0 EFHC2 80258 broad.mit.edu 37 X 44109653 44109653 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:44109653G>A uc004dgb.4 - 4 734 c.645C>T c.(643-645)tcC>tcT p.S215S EFHC2_uc022bvg.1_5'UTR NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA. 215 calcium ion binding p.E214K(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 GGGTGTCGAGGGATTCGTAGG 0.438000 7 18 0 0 0.00152264 0 0 SREK1 140890 broad.mit.edu 37 5 65473474 65473474 + Silent SNP T C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:65473474T>C uc003jun.3 + 10 1833 c.1713T>C c.(1711-1713)agT>agC p.S571S SREK1_uc010iwy.3_Silent_p.S454S|SREK1_uc003juo.3_Silent_p.S455S NM_001077199 NP_631907 Q8WXA9 SREK1_HUMAN Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA. 455 RNA splicing|mRNA processing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 AGAAGAACAGTACTTCACTTA 0.408000 51 34 0 0 0.00128727 0 0 KCNH5 27133 broad.mit.edu 37 14 63316439 63316439 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr14:63316439G>A uc001xfx.3 - 7 1552 c.1501C>T c.(1501-1503)Ctt>Ttt p.L501F KCNH5_uc001xfy.3_Missense_Mutation_p.L501F|KCNH5_uc001xfz.1_Missense_Mutation_p.L443F NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 501 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CGCTCACTAAGGCCTTTTGGG 0.378000 52 24 0 0 0.00047179 0 0 PLAA 9373 broad.mit.edu 37 9 26919485 26919485 + Missense_Mutation SNP G C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:26919485G>C uc003zqd.3 - 8 1665 c.1240C>G c.(1240-1242)Cca>Gca p.P414A PLAA_uc003zqe.2_Missense_Mutation_p.P414A NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN Homo sapiens phospholipase A2-activating protein (PLAA), mRNA. 414 PFU. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TTATATGATGGTCCACCTTCA 0.313000 227 7 0 0 0.000274275 0 0 abParts 0 broad.mit.edu 37 14 106518841 106518841 + RNA SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr14:106518841G>A uc021ser.1 - 2194 c.39213C>T Parts of antibodies, mostly variable regions. ACCCAGCTCAGCCCCAATTCC 0.488000 123 59 0 0 0.000781405 0 0 C6orf118 168090 broad.mit.edu 37 6 165715219 165715219 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:165715219G>A uc003qum.4 - 1 628 c.592C>T c.(592-594)Cgg>Tgg p.R198W C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 198 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TAGTGGTGCCGGTCCCTGGTG 0.632000 55 5 0 0 0.00198382 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488779 20488779 + RNA SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr15:20488779G>A uc001ytf.1 + 1 c.262G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. CAAGATTTTGGGAGAGACCTC 0.413000 123 10 0 0 0.00136819 0 0 KLHL20 27252 broad.mit.edu 37 1 173703100 173703100 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:173703100C>T uc001gjc.3 + 2 451 c.272C>T c.(271-273)cCc>cTc p.P91L KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.P73L|KLHL20_uc001gjd.3_Missense_Mutation_p.P91L NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA. 91 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GCCTGTAGTCCCTACTTCCGA 0.478000 48 24 0 0 0.00047179 0 0 DUSP16 80824 broad.mit.edu 37 12 12629826 12629826 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:12629826C>T uc001rao.2 - 6 2702 c.1939G>A c.(1939-1941)Ggg>Agg p.G647R DUSP16_uc001ran.2_Missense_Mutation_p.G499R NM_030640 NP_085143 Q9BY84 DUS16_HUMAN Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA. 647 MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CCCACTTTCCCCAGCTCTTCC 0.453000 134 48 0 0 0.000781405 0 0 PLA2G6 8398 broad.mit.edu 37 22 38536174 38536174 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr22:38536174G>A uc003auy.1 - 4 748 c.612C>T c.(610-612)ctC>ctT p.L204L PLA2G6_uc003auz.1_Silent_p.L204L|PLA2G6_uc003ava.1_Silent_p.L204L|PLA2G6_uc003avb.2_Silent_p.L204L|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 204 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TCCTTCCAAGGAGCTGATGAA 0.572000 31 16 0 0 0.000958276 0 0 NRK 203447 broad.mit.edu 37 X 105142685 105142685 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:105142685C>T uc004emd.3 + 7 992 c.689C>T c.(688-690)cCa>cTa p.P230L NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 230 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GATGAGGACCCAAGACGCTCC 0.408000 HNSCC(51;0.14) 2 7 0 0 0.00198382 0 0 LEPR 3953 broad.mit.edu 37 1 66083654 66083654 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:66083654C>T uc001dci.3 + 15 2609 c.2220C>T c.(2218-2220)atC>atT p.I740I LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 740 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CAGTAAATATCGTGCAGTCAC 0.303000 24 17 0 0 0.000422831 0 0 GDA 9615 broad.mit.edu 37 9 74856202 74856202 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:74856202G>A uc004air.3 + 10 1332 c.1123G>A c.(1123-1125)Gga>Aga p.G375R GDA_uc011lse.2_Missense_Mutation_p.G301R|GDA_uc004aiq.3_Missense_Mutation_p.G375R|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G301R|GDA_uc004ais.3_Missense_Mutation_p.G297R NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 375 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AGCTACTCTTGGAGGAAGCCA 0.383000 25 12 0 0 0.00185496 0 0 RPTOR 57521 broad.mit.edu 37 17 78599568 78599568 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:78599568C>T uc002jyt.1 + 1 1045 c.240C>T c.(238-240)ccC>ccT p.P80P RPTOR_uc002jys.3_Silent_p.P80P|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.P80P NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 80 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 AGACCACGCCCTGTGCACGCT 0.567000 48 39 0 0 0.00285205 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143495 143495 + Splice_Site SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:143495G>A uc003jak.2 + 3 670 c.620_splice c.e3-1 p.G207_splice NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 207 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTCTCCGCAGGGACCCGAGAC 0.632000 48 34 0 0 0.000953801 0 0 ZNF208 7757 broad.mit.edu 37 19 22155201 22155201 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:22155201G>A uc021urr.1 - 3 2784 c.2635C>T c.(2635-2637)Cat>Tat p.H879Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTTCTTATGATAACTAAGG 0.363000 25 30 0 0 0.00178596 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368473 18368473 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:18368473G>A uc010ebn.2 - 3 3837 c.3621C>T c.(3619-3621)ttC>ttT p.F1207F PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.F1020F|KIAA1683_uc010xqe.1_Silent_p.F974F|KIAA1683_uc010xqf.1_Non-coding_Transcript NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGCCATCCTGGAACCAGCTTC 0.667000 22 30 0 0 0.0024448 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:129116038C>T uc003eme.1 - 0 c.760G>A RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA. lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 102 6 0 0 0.000274275 0 0 PCLO 27445 broad.mit.edu 37 7 82546012 82546012 + Nonsense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:82546012G>A uc003uhx.2 - 6 11579 c.11290C>T c.(11290-11292)Cag>Tag p.Q3764* PCLO_uc003uhv.2_Nonsense_Mutation_p.Q3764*|PCLO_uc010lec.3_Nonsense_Mutation_p.Q729* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3695 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 TCTATGTCCTGGAGAATCTTG 0.453000 40 28 0 0 0.00127121 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300629 103300629 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:103300629G>A uc002tca.3 + 4 1401 c.1259G>A c.(1258-1260)cGg>cAg p.R420Q NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 420 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.R420R(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AATAGGTTCCGGACCATTCCC 0.453000 59 25 0 0 0.000878237 0 0 DCLK1 9201 broad.mit.edu 37 13 36396997 36396997 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:36396997C>T uc001uvf.3 - 10 1706 c.1423G>A c.(1423-1425)Gat>Aat p.D475N MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.D168N|DCLK1_uc010teh.2_Missense_Mutation_p.D168N|DCLK1_uc010abk.3_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA. 475 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTAATGGCATCAAAAAGGTCT 0.522000 45 19 0 0 0.00188189 0 0 NLRP1 22861 broad.mit.edu 37 17 5433872 5433872 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:5433872G>A uc002gci.3 - 11 4004 c.3449C>T c.(3448-3450)cCt>cTt p.P1150L NLRP1_uc002gcg.1_Missense_Mutation_p.P1154L|NLRP1_uc002gch.4_Missense_Mutation_p.P1150L|NLRP1_uc002gck.3_Missense_Mutation_p.P1150L|NLRP1_uc002gcj.3_Missense_Mutation_p.P1120L|NLRP1_uc002gcl.3_Missense_Mutation_p.P1120L|NLRP1_uc010clh.3_Missense_Mutation_p.P1150L NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 1150 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTCCAGCAGAGGCCCTGCCAC 0.547000 51 6 0 0 0.00116845 0 0 ABCG1 9619 broad.mit.edu 37 21 43693533 43693533 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr21:43693533G>A uc011aev.2 + 3 632 c.558G>A c.(556-558)caG>caA p.Q186Q ABCG1_uc002zam.3_Silent_p.Q153Q|ABCG1_uc002zan.3_Silent_p.Q177Q|ABCG1_uc002zao.3_Silent_p.Q172Q|ABCG1_uc002zap.3_Silent_p.Q175Q|ABCG1_uc002zaq.3_Silent_p.Q175Q|ABCG1_uc002zar.3_Silent_p.Q186Q NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 175 ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TCACTGTGCAGGAGGCCATGA 0.667000 17 8 0 0 0.000157383 0 0 DMBT1 1755 broad.mit.edu 37 10 124395534 124395534 + Nonsense_Mutation SNP T A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:124395534T>A uc001lgk.1 + 49 6295 c.6189T>A c.(6187-6189)taT>taA p.Y2063* DMBT1_uc001lgl.1_Nonsense_Mutation_p.Y2053*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.Y1435*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.Y2063*|DMBT1_uc021qag.1_Nonsense_Mutation_p.Y2053*|DMBT1_uc021qah.1_Nonsense_Mutation_p.Y1435*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.Y2062*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.Y783*|DMBT1_uc009yab.1_Nonsense_Mutation_p.Y766*|DMBT1_uc009yac.1_Nonsense_Mutation_p.Y357* NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2063 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACTATGATTATATTGAAGTTT 0.512000 42 19 0 0 0.00188189 0 0 MMRN1 22915 broad.mit.edu 37 4 90856667 90856667 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:90856667G>A uc003hst.3 + 5 1907 c.1836G>A c.(1834-1836)gaG>gaA p.E612E MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Silent_p.E354E NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 612 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) ACACAGAAGAGAATTTACATG 0.338000 49 28 0 0 0.000720815 0 0 RP1 6101 broad.mit.edu 37 8 55538676 55538676 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:55538676C>T uc003xsd.1 + 3 2382 c.2234C>T c.(2233-2235)tCc>tTc p.S745F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 745 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTTTTTGTTCCAAAAGTAAT 0.323000 35 15 0 0 0.000308642 0 0 SYK 6850 broad.mit.edu 37 9 93650807 93650807 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:93650807G>A uc004aqz.3 + 12 1938 c.1733G>A c.(1732-1734)gGa>gAa p.G578E SYK_uc004ara.3_Missense_Mutation_p.G555E|SYK_uc004arb.3_Missense_Mutation_p.G555E|SYK_uc004arc.3_Missense_Mutation_p.G578E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 578 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGGATGAAAGGAAGTGAAGTC 0.433000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 11 6 0 0 0.00198382 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + Missense_Mutation SNP G A A rs143538588 by1000genomes TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:142482242G>A uc011ksq.2 + 4 705 c.622G>A c.(622-624)Gga>Aga p.G208R TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. GGTCTGCAATGGACAGCTTCA 0.493000 78 6 0 0 0.000157383 0 0 ATAD2 29028 broad.mit.edu 37 8 124349897 124349897 + Nonsense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:124349897G>A uc003yqh.4 - 20 3127 c.3019C>T c.(3019-3021)Cga>Tga p.R1007* ATAD2_uc011lii.2_Nonsense_Mutation_p.R798*|ATAD2_uc003yqi.4_Non-coding_Transcript NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 1007 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTAAACACTCGGAATCGCTTG 0.358000 55 19 0 0 0.00047179 0 0 CLVS1 157807 broad.mit.edu 37 8 62289219 62289219 + Missense_Mutation SNP G A A rs143211270 by1000genomes TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:62289219G>A uc003xuh.3 + 2 835 c.511G>A c.(511-513)Gaa>Aaa p.E171K CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 171 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.E171K(2) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGTCCTAATCGAAGATCCGGA 0.438000 55 42 0 0 0.000781405 0 0 DIP2C 22982 broad.mit.edu 37 10 409183 409183 + Missense_Mutation SNP T C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr10:409183T>C uc001ifp.3 - 20 2636 c.2546A>G c.(2545-2547)gAc>gGc p.D849G DIP2C_uc009xhi.1_Missense_Mutation_p.D235G|DIP2C_uc010pzz.1_Missense_Mutation_p.D170G NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 849 nucleus catalytic activity|transcription factor binding p.P848T(1) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TTCCGTGGAGTCAGGCCTCTG 0.627000 19 7 0 0 0.000157383 0 0 CHERP 10523 broad.mit.edu 37 19 16630054 16630054 + Silent SNP A T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:16630054A>T uc002nei.1 - 16 2741 c.2667T>A c.(2665-2667)gcT>gcA p.A889A MED26_uc002nee.2_Non-coding_Transcript|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Silent_p.A428A NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 889 G-patch. RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GGTCATCCAGAGCCACGCCCA 0.622000 27 26 0 0 0.00106085 0 0 USP31 57478 broad.mit.edu 37 16 23080670 23080670 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr16:23080670G>A uc002dll.3 - 15 2756 c.2756C>T c.(2755-2757)tCt>tTt p.S919F USP31_uc002dlk.3_Missense_Mutation_p.S191F|USP31_uc010vca.2_Missense_Mutation_p.S222F|USP31_uc010bxm.3_Missense_Mutation_p.S207F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 919 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GTAACTGCTAGAAAGGTTCCG 0.547000 44 17 0 0 0.00074312 0 0 F5 2153 broad.mit.edu 37 1 169511711 169511711 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:169511711C>T uc001ggg.1 - 12 2762 c.2617G>A c.(2617-2619)Gat>Aat p.D873N NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 873 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCTGCTTGATCTCTTTCTACC 0.463000 111 55 0 0 0.000781405 0 0 COL14A1 7373 broad.mit.edu 37 8 121357691 121357691 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:121357691C>T uc003yox.3 + 44 5231 c.4966C>T c.(4966-4968)Cct>Tct p.P1656S COL14A1_uc003yoz.3_Missense_Mutation_p.P621S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1656 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCAAGGGCCTCCTGGGGAGCC 0.622000 57 19 0 0 0.00121646 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220072749 220072749 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:220072749C>T uc002vka.3 + 3 595 c.423C>T c.(421-423)acC>acT p.T141T ZFAND2B_uc010zkt.2_Silent_p.T141T|ZFAND2B_uc010fwd.1_Silent_p.T141T|ZFAND2B_uc002vjz.1_Silent_p.T141T|ZFAND2B_uc002vkb.1_Silent_p.T32T NM_138802 NP_620157 Q8WV99 ZFN2B_HUMAN Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA. 141 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCACCCAACCAGCCGGGCAG 0.512000 63 25 0 0 0.00106085 0 0 DNAH6 1768 broad.mit.edu 37 2 84806744 84806744 + Missense_Mutation SNP C T T rs142042706 TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:84806744C>T uc010fgb.3 + 13 2307 c.2170C>T c.(2170-2172)Cca>Tca p.P724S DNAH6_uc002soo.3_Missense_Mutation_p.P303S|DNAH6_uc002sop.3_Missense_Mutation_p.P303S NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 724 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TGAGTTTGTTCCAACTACTAC 0.343000 33 15 0 0 0.00244969 0 0 NOMO1 23420 broad.mit.edu 37 16 14973913 14973914 + Missense_Mutation DNP CC TT TT TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr16:14973913_14973914CC>TT uc002dcv.3 + 23 2865_2866 c.2799_2800CC>TT c.(2797-2802)ttccgg>ttTTgg p.R934W NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 934 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TGAAGGAGTTCCGGTTTGAGCC 0.525000 115 31 0 0 6.4e-05 0 0 BPGM 669 broad.mit.edu 37 7 134363713 134363713 + Missense_Mutation SNP A G G rs11769006 TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:134363713A>G uc003vrv.3 + 3 1251 c.710A>G c.(709-711)gAc>gGc p.D237G BPGM_uc003vrw.3_Missense_Mutation_p.D237G NM_199186 NP_954655 P07738 PMGE_HUMAN Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA. 237 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 TTCCTGGGTGACCAAGAGGCG 0.428000 175 71 0 0 0.000781405 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439748 145439748 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:145439748C>T uc003lnt.3 + 8 2113 c.1875C>T c.(1873-1875)atC>atT p.I625I SH3RF2_uc011dbl.1_Silent_p.I625I|SH3RF2_uc011dbm.1_Silent_p.I110I|SH3RF2_uc003lnu.3_Silent_p.I116I|SH3RF2_uc011dbn.1_Silent_p.I116I|SH3RF2_uc011dbo.2_Silent_p.I82I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 625 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCATCCATCCTGGTGAAAC 0.522000 69 22 0 0 0.000878237 0 0 TRIML1 339976 broad.mit.edu 37 4 189065256 189065256 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:189065256G>A uc003izm.1 + 4 940 c.825G>A c.(823-825)acG>acA p.T275T TRIML1_uc003izn.1_5'UTR NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 275 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.T275T(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCCGCATCACGGGAATGAAGG 0.527000 20 11 0 0 0.00185496 0 0 C2CD3 26005 broad.mit.edu 37 11 73814461 73814461 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:73814461G>A uc001ouu.2 - 13 2522 c.2295C>T c.(2293-2295)ctC>ctT p.L765L NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 765 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TTCGGTTGGGGAGCACCAAGT 0.438000 39 12 0 0 0.00185496 0 0 OR5B3 441608 broad.mit.edu 37 11 58170715 58170715 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:58170715G>A uc010rkf.2 - 0 168 c.168C>T c.(166-168)ccC>ccT p.P56P NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAAAGTACATGGGATTGTGGA 0.413000 39 21 0 0 0.00188189 0 0 SLC26A7 115111 broad.mit.edu 37 8 92301455 92301455 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr8:92301455G>A uc003yez.3 + 2 524 c.285G>A c.(283-285)atG>atA p.M95I SLC26A7_uc003yex.3_Missense_Mutation_p.M95I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M95I NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 95 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TATTTGGAATGGGACATCATG 0.388000 107 43 0 0 0.000781405 0 0 VCAM1 7412 broad.mit.edu 37 1 101190273 101190273 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:101190273C>T uc001dti.3 + 3 976 c.755C>T c.(754-756)cCa>cTa p.P252L VCAM1_uc010ouj.2_Missense_Mutation_p.P190L|VCAM1_uc001dtj.3_Missense_Mutation_p.P252L NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 252 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GAGGGTCTACCAGCTCCAGAG 0.433000 24 19 0 0 0.00074312 0 0 SLC44A4 80736 broad.mit.edu 37 6 31838420 31838420 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:31838420G>A uc010jti.3 - 10 1063 c.997C>T c.(997-999)Cgg>Tgg p.R333W SLC44A4_uc011dol.2_Missense_Mutation_p.R257W|SLC44A4_uc011dom.2_Missense_Mutation_p.R291W NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 333 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) ATACGAATCCGCTGCCGCAGG 0.622000 95 19 0 0 0.00152264 0 0 SLC22A9 114571 broad.mit.edu 37 11 63177310 63177310 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:63177310G>A uc001nww.3 + 9 1906 c.1638G>A c.(1636-1638)ccG>ccA p.P546P SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 546 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAGAGGATCCGAGAGTGGAAG 0.413000 25 10 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13871029 13871029 + Missense_Mutation SNP A C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:13871029A>C uc003jfd.2 - 23 3723 c.3681T>G c.(3679-3681)agT>agG p.S1227R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1227 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1227G(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTCCATCTCACTCCGGTATT 0.408000 Kartagener syndrome 69 21 0 0 0.00188189 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567282 140567282 + Silent SNP G C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:140567282G>C uc003liw.1 + 0 390 c.390G>C c.(388-390)tcG>tcC p.S130S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 130 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGATCACTCGCCAGTGTTTC 0.428000 48 11 0 0 0.000673444 0 0 ACP2 53 broad.mit.edu 37 11 47264422 47264422 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:47264422C>T uc001nei.3 - 9 1107 c.990G>A c.(988-990)cgG>cgA p.R330R ACP2_uc010rhe.2_Silent_p.R302R|ACP2_uc009ylj.3_Silent_p.R258R|ACP2_uc010rhf.2_Silent_p.R298R|ACP2_uc010rhg.2_Silent_p.R267R|ACP2_uc010rhh.2_Silent_p.R143R|ACP2_uc009ylk.2_Silent_p.R297R|ACP2_uc010rhi.1_Silent_p.R143R NM_001610 NP_001601 P11117 PPAL_HUMAN Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA. 330 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity p.R330Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CACTCTCGTTCCGAAAGTACA 0.642000 19 9 0 0 0.000673444 0 0 LRP1B 53353 broad.mit.edu 37 2 141356370 141356370 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:141356370G>A uc002tvj.1 - 42 7996 c.7024C>T c.(7024-7026)Cca>Tca p.P2342S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2342 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) ATGATACTTGGATGTTGTTCA 0.338000 TSP Lung(27;0.18) 26 17 0 0 0.00229938 0 0 GLIS1 148979 broad.mit.edu 37 1 54059973 54059973 + Missense_Mutation SNP G C C TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:54059973G>C uc001cvr.1 - 2 1170 c.603C>G c.(601-603)gaC>gaG p.D201E NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 201 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CTGCACAGCAGTCCACCCAGC 0.682000 19 6 0 0 0.000157383 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118358 118358 + RNA SNP A G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrGL000205.1:118358A>G uc002kgk.4 + 0 c.1736A>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GCCAGGGAAGACATCATCCCT 0.557000 44 7 0 0 0.000157383 0 0 BPTF 2186 broad.mit.edu 37 17 65916199 65916199 + Nonsense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:65916199C>T uc002jgf.3 + 12 5558 c.5497C>T c.(5497-5499)Cga>Tga p.R1833* BPTF_uc002jge.3_Nonsense_Mutation_p.R1959* NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1959 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding p.R1833Q(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTATGGCATTCGATCTGAATA 0.318000 89 37 0 0 0.00111076 0 0 SNAP91 9892 broad.mit.edu 37 6 84269854 84269854 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr6:84269854G>A uc021zcf.1 - 26 2630 c.2600C>T c.(2599-2601)cCc>cTc p.P867L SNAP91_uc011dzd.2_Missense_Mutation_p.P365L|SNAP91_uc003pka.3_Missense_Mutation_p.P865L|SNAP91_uc011dze.2_Missense_Mutation_p.P865L|SNAP91_uc003pkc.3_Missense_Mutation_p.P837L|SNAP91_uc003pkd.3_Missense_Mutation_p.P560L|SNAP91_uc003pkb.3_Missense_Mutation_p.P776L NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 867 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AGCTCCAAAGGGGGGCCTCAT 0.517000 49 20 0 0 0.00229938 0 0 CFH 3075 broad.mit.edu 37 1 196887394 196887394 + Missense_Mutation SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:196887394G>A uc001gtp.3 + 9 1732 c.1595G>A c.(1594-1596)gGa>gAa p.G532E CFH_uc021pgt.1_Missense_Mutation_p.G155E|CFH_uc009wyy.3_Missense_Mutation_p.G531E|CFH_uc001gto.3_Missense_Mutation_p.G285E NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 884 Sushi 9. complement activation, alternative pathway extracellular space p.G285E(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CAGTTAAAAGGAAAAAGTGAC 0.279000 35 21 0 0 0.00188189 0 0 SULT1E1 6783 broad.mit.edu 37 4 70709918 70709918 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:70709918C>T uc003heo.3 - 6 846 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 245 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TTCATAATTTCGTCTGGCAGT 0.428000 89 35 0 0 0.00111076 0 0 ZNF439 90594 broad.mit.edu 37 19 11977098 11977098 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:11977098C>T uc002mss.3 + 0 255 c.127C>T c.(127-129)Ctc>Ttc p.L43F ZNF439_uc002msr.3_Intron NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN Homo sapiens zinc finger protein 439 (ZNF439), mRNA. 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CCAGAAGAATCTCTACAGGGA 0.448000 61 69 0 0 0.000781405 0 0 ARID2 196528 broad.mit.edu 37 12 46215264 46215264 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr12:46215264C>T uc001ros.1 + 5 699 c.699C>T c.(697-699)ttC>ttT p.F233F ARID2_uc001ror.3_Silent_p.F233F NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 233 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATAGAGACTTCGTTAAGGTAA 0.284000 """N, S, F""" hepatocellular carcinoma 36 41 0 0 0.000781405 0 0 PARP4 143 broad.mit.edu 37 13 25008631 25008631 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:25008631G>A uc001upl.3 - 30 4754 c.4648C>T c.(4648-4650)Ctg>Ttg p.L1550L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1550 L -> P (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494). DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding p.I1549V(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGAAAGCACAGGATACTGTCA 0.403000 45 17 0 0 0.000422831 0 0 RPRD2 23248 broad.mit.edu 37 1 150429989 150429989 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:150429989C>T uc009wlr.3 + 7 1297 c.1096C>T c.(1096-1098)Cgt>Tgt p.R366C RPRD2_uc010pcc.1_Missense_Mutation_p.R340C|RPRD2_uc001eup.4_Missense_Mutation_p.R340C NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 366 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GACAGATAATCGTGATGTGGA 0.428000 148 59 0 0 0.000781405 0 0 MLANA 2315 broad.mit.edu 37 9 5897597 5897597 + Missense_Mutation SNP T G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:5897597T>G uc003zjo.1 + 2 171 c.118T>G c.(118-120)Tta>Gta p.L40V NM_005511 NP_005502 Q16655 MAR1_HUMAN Homo sapiens melan-A (MLANA), mRNA. 40 endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network protein binding p.L40>?(1)|p.L40L(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 8 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103) CCTGGGAGTCTTACTGCTCAT 0.483000 113 4 0 0 0.00116845 0 0 OR1A1 8383 broad.mit.edu 37 17 3119823 3119823 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:3119823C>T uc010vrc.2 + 0 909 c.909C>T c.(907-909)ttC>ttT p.F303F NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GGAAACTCTTCAACAAGAGAA 0.458000 46 19 0 0 0.00121646 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 97 39 0 0 0.00128727 0 0 TLN1 7094 broad.mit.edu 37 9 35714009 35714009 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:35714009G>A uc003zxt.2 - 24 3544 c.3190C>T c.(3190-3192)Cta>Tta p.L1064L NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 1064 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTTCCTGTAGATCTTTCTCT 0.443000 31 16 0 0 0.00121646 0 0 ATP11A 23250 broad.mit.edu 37 13 113485797 113485797 + Missense_Mutation SNP G A A rs141227366 byFrequency TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:113485797G>A uc001vsj.4 + 12 1418 c.1330G>A c.(1330-1332)Ggg>Agg p.G444R ATP11A_uc001vsi.4_Missense_Mutation_p.G444R|ATP11A_uc001vsm.1_Missense_Mutation_p.G320R NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 444 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CATCTGCAACGGGCAGGTCCT 0.587000 23 16 0 0 0.000958276 0 0 SLC2A7 155184 broad.mit.edu 37 1 9074860 9074860 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:9074860C>T uc009vmo.1 - 6 783 c.783G>A c.(781-783)cgG>cgA p.R261R NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 261 R -> Q (in dbSNP:rs12402973). integral to membrane|plasma membrane sugar transmembrane transporter activity p.R261Q(1) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CGCGCTCGGCCCGGGCCTCCG 0.697000 6 6 0 0 0.000157383 0 0 NUP188 23511 broad.mit.edu 37 9 131761586 131761586 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:131761586G>A uc004bws.1 + 32 3673 c.3651G>A c.(3649-3651)aaG>aaA p.K1217K NUP188_uc004bwu.3_Silent_p.K560K NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 1217 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCAAATGAAGGAGATGAAAG 0.582000 OREG0003925 type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 4 0 0 0.000602214 0 0 KLK5 25818 broad.mit.edu 37 19 51451995 51451995 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:51451995G>A uc002pue.3 - 5 845 c.627C>T c.(625-627)atC>atT p.I209I KLK5_uc002puf.3_Silent_p.I209I|KLK5_uc002pug.3_Silent_p.I209I NM_001077491 NP_036559 Q9Y337 KLK5_HUMAN Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA. 209 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TTAGCACGCTGATATTCAAGC 0.512000 15 15 0 0 0.000308642 0 0 TBCEL 219899 broad.mit.edu 37 11 120957608 120957608 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr11:120957608C>T uc001pxo.3 + 7 1283 c.1078C>T c.(1078-1080)Cgt>Tgt p.R360C TBCEL_uc009zay.3_Missense_Mutation_p.R360C|TBCEL_uc001pxp.3_Missense_Mutation_p.R216C|TBCEL_uc001pxq.3_Non-coding_Transcript NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 360 Ubiquitin-like. cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AATGAGCATTCGTCTGGACCA 0.433000 16 5 0 0 0.00116845 0 0 P2RY10 27334 broad.mit.edu 37 X 78216875 78216875 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chrX:78216875C>T uc022bzl.1 + 0 858 c.858C>T c.(856-858)ttC>ttT p.F286F P2RY10_uc004ede.3_Silent_p.F286F|P2RY10_uc004edf.3_Silent_p.F286F NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 286 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 CACTGTATTTCCACCCTTTTT 0.423000 39 83 0 0 0.000781405 0 0 SIDT1 54847 broad.mit.edu 37 3 113286510 113286510 + Silent SNP T G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:113286510T>G uc021xcn.1 + 2 1119 c.468T>G c.(466-468)ggT>ggG p.G156G SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.G156G|SIDT1_uc011big.2_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 156 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CACCCCTGGGTGCTCAGTACA 0.512000 95 33 0 0 0.000692331 0 0 BRD1 23774 broad.mit.edu 37 22 50187931 50187931 + Silent SNP G A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr22:50187931G>A uc011arg.2 - 6 2271 c.2257C>T c.(2257-2259)Ctg>Ttg p.L753L BRD1_uc011arf.2_Silent_p.L299L|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.L704L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.L704L NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 704 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCGGGGTCCAGCAACCTGTCC 0.602000 51 37 0 0 0.000680045 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140725 143140725 + Silent SNP T G G TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr7:143140725T>G uc011ktg.2 + 0 180 c.180T>G c.(178-180)gtT>gtG p.V60V LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 60 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) AGTTATTGGTTAGCCTAGGGG 0.507000 53 38 0 0 0.00170553 0 0 DNAH9 1770 broad.mit.edu 37 17 11790183 11790183 + Silent SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr17:11790183C>T uc002gne.3 + 56 11081 c.11013C>T c.(11011-11013)gcC>gcT p.A3671A DNAH9_uc010coo.3_Silent_p.A2965A|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_Silent_p.A24A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3671 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCAACGAGGCCCGAGAGCACT 0.522000 20 15 0 0 0.000422831 0 0 LIPI 149998 broad.mit.edu 37 21 15561499 15561499 + Silent SNP G A A rs148528170 byFrequency TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr21:15561499G>A uc002yjm.3 - 1 361 c.351C>T c.(349-351)ttC>ttT p.F117F LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F96F|LIPI_uc021whh.1_Silent_p.F96F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F96F|LIPI_uc021whe.1_Silent_p.F96F|LIPI_uc021whf.1_Silent_p.F96F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 96 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.F117F(2) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AAATCCTTACGAAGTTCTGAA 0.368000 31 22 0 0 0.00278032 0 0 PCDH18 54510 broad.mit.edu 37 4 138442323 138442323 + Missense_Mutation SNP C T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr4:138442323C>T uc003ihe.4 - 3 3655 c.3268G>A c.(3268-3270)Gag>Aag p.E1090K PCDH18_uc003ihf.4_Missense_Mutation_p.E1082K|PCDH18_uc011cgz.2_Missense_Mutation_p.E301K|PCDH18_uc003ihg.4_Missense_Mutation_p.E869K|PCDH18_uc011cha.2_Missense_Mutation_p.E270K NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1090 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGGATCTCCTCCATGGCTGGC 0.502000 24 15 0 0 0.00244969 0 0 EPHB2 2048 broad.mit.edu 37 1 23233280 23233281 + Frame_Shift_Del DEL AA - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:23233280_23233281delAA uc009vqj.1 + 10 2111_2112 c.1966_1967delAA c.(1966-1968)aagfs p.K656fs EPHB2_uc001bge.3_Frame_Shift_Del_p.K657fs|EPHB2_uc001bgf.3_Frame_Shift_Del_p.K656fs|EPHB2_uc010odu.2_Frame_Shift_Del_p.K598fs NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 656 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAAGACGCTCAAGTCGGGCTAC 0.589 --- 38 --- --- 12 --- AHDC1 27245 broad.mit.edu 37 1 27874264 27874264 + Frame_Shift_Del DEL G - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:27874264delG uc021ojw.1 - 0 4363 c.4363delC c.(4363-4365)cacfs p.H1455fs AHDC1_uc009vsy.3_Frame_Shift_Del_p.H1455fs|AHDC1_uc009vsz.1_Frame_Shift_Del_p.H1455fs NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 1455 DNA binding p.H1455H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAATCGTAGTGGGGCTGGCCC 0.692 --- 4 --- --- 2 --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr1:226034840_226034842delCTG uc001hpm.2 - 23 2945_2947 c.2323_2325delCAG c.(2323-2325)cagdel p.Q775del NM_014698 NP_055513 O94886 TM63A_HUMAN Homo sapiens transmembrane protein 63A (TMEM63A), mRNA. 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(2) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 --- 157 --- --- 7 --- MRPL33 9553 broad.mit.edu 37 2 27997313 27997313 + Frame_Shift_Del DEL A - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr2:27997313delA uc002rlm.1 + 2 125 c.64delA c.(64-66)agcfs p.S22fs MRPL33_uc002rln.1_Intron NM_004891 NP_004882 O75394 RM33_HUMAN Homo sapiens mitochondrial ribosomal protein L33 (MRPL33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 22 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(172;0.155) GAGAATGGTGAGCGAAGCTGG 0.438 --- 129 --- --- 39 --- PTPRG 5793 broad.mit.edu 37 3 62063933 62063934 + Splice_Site INS - A A TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr3:62063933_62063934insA uc003dlb.3 + 5 1334 c.615_splice c.e5+1 p.Q205_splice PTPRG_uc003dlc.3_Splice_Site_p.Q205_splice NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 205 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATTTTTTCAAGTAAGTTAACAG 0.337 --- 33 --- --- 9 --- DMXL1 1657 broad.mit.edu 37 5 118506200 118506202 + In_Frame_Del DEL CTC - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr5:118506200_118506202delCTC uc010jcl.1 + 23 5895_5897 c.5714_5716delCTC c.(5713-5718)tctcct>tct p.P1906del DMXL1_uc003ksd.2_In_Frame_Del_p.P1906del|DMXL1_uc021ycw.1_In_Frame_Del_p.P1733del NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1906 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAAGACTGTTCTCCTTCTTCTCC 0.379 --- 69 --- --- 28 --- PRUNE2 158471 broad.mit.edu 37 9 79244208 79244208 + Splice_Site DEL T - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr9:79244208delT uc010mpk.3 - 16 9175 c.9051_splice c.e16-1 p.S3017_splice PRUNE2_uc011lsk.2_Splice_Site_p.S266_splice|PRUNE2_uc011lsl.2_Splice_Site_p.S281_splice|PRUNE2_uc011lsm.2_Splice_Site_p.S282_splice|PRUNE2_uc004akj.4_Splice_Site_p.S471_splice|PRUNE2_uc022big.1_Splice_Site NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 3017 CRAL-TRIO. G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AATTTTGAACTAAAAAAAAAA 0.333 --- 9 --- --- 4 --- PCDH17 27253 broad.mit.edu 37 13 58240609 58240610 + Frame_Shift_Ins INS - T T TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr13:58240609_58240610insT uc001vhq.1 + 1 3465_3466 c.2573_2574insT c.(2572-2574)aatfs p.N858fs PCDH17_uc010aec.1_Frame_Shift_Ins_p.N858fs|PCDH17_uc001vhr.1_5'Flank NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 858 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) CAGACAGACAATTTTCCCGCAG 0.401 --- 43 --- --- 16 --- STK11 6794 broad.mit.edu 37 19 1220396 1220403 + Frame_Shift_Del DEL CCTGGAGT - - TCGA-EB-A1NK-01A-11D-A196-08 TCGA-EB-A1NK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4866043-bb1c-4602-889b-58d565b39d37 839c6ed4-8895-41db-a9e4-eae33505bd36 g.chr19:1220396_1220403delCCTGGAGT uc002lrl.1 + 3 1604_1611 c.489_496delCCTGGAGT c.(487-498)ggcctggagtacfs p.G163fs NM_000455 NP_000446 Q15831 STK11_HUMAN Homo sapiens serine/threonine kinase 11 (STK11), mRNA. 163 Protein kinase. DGL -> NDM (in PJS).|G -> D (in testicular tumors; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4)|p.Y156fs*87(4)|p.E165*(3)|p.G52_P179del(1)|p.G163C(1)|p.G163D(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGATTGACGGCCTGGAGTACCTGCATAG 0.649 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) --- 1 --- --- 5 ---