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 TMEM104 54868 broad.mit.edu 37 17 72832478 72832478 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72832478G>A uc002jls.4 + 9 1305 c.1143G>A c.(1141-1143)aaG>aaA p.K381K TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.K381K NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 381 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) ACAACTGGAAGACACTCTTCC 0.637000 85 54 0 0 0.014410 0 0 TRA@ 6955 broad.mit.edu 37 14 22111558 22111558 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22111558G>A uc001wbk.3 + 1 162 c.129G>A c.(127-129)gaG>gaA p.E43E Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114. AGCCCACTGAGATGACAGCTA 0.493000 T """ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6""" T-ALL 61 19 0 0 0.007413 0 0 SYCP2L 221711 broad.mit.edu 37 6 10961628 10961628 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:10961628G>A uc003mzo.3 + 26 2642 c.2346G>A c.(2344-2346)aaG>aaA p.K782K SYCP2L_uc010jow.3_Silent_p.K402K NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 782 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ACCTTGAGAAGGAGGTTCTGG 0.383000 53 16 0 0 0.004007 0 0 PCSK5 5125 broad.mit.edu 37 9 78973689 78973689 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:78973689G>A uc004akc.2 + 36 5972 c.5434G>A c.(5434-5436)Gat>Aat p.D1812N NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 629 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGAGTACAGGGATCGGGACTA 0.473000 156 54 0 0 0.014410 0 0 HLA-G 3135 broad.mit.edu 37 6 29796330 29796330 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:29796330C>T uc003nnw.2 + 3 532 c.354C>T c.(352-354)acC>acT p.T118T HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.T90T|HLA-G_uc003raj.3_Silent_p.T123T|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 118 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 GTTCTCACACCCTCCAGTGGA 0.667000 86 16 0 0 0.004007 0 0 NSUN6 221078 broad.mit.edu 37 10 18837064 18837064 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:18837064G>A uc010qcp.1 - 9 1592 c.1174C>T c.(1174-1176)Cct>Tct p.P392S NSUN6_uc001iqb.3_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA. 392 RNA binding|methyltransferase activity endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAAGGCAAGGAAATTTTGTC 0.453000 14 5 0 0 0.001168 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657585 1657585 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:1657585G>A uc002ftk.1 + 9 1310 c.1233G>A c.(1231-1233)gtG>gtA p.V411V SERPINF2_uc010vqr.1_Silent_p.V347V|SERPINF2_uc021tnm.1_Silent_p.V411V NM_000934 NP_001159392 P08697 A2AP_HUMAN Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA. 411 V -> M (in APLID). acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CCTTCAGCGTGAACCGCCCCT 0.652000 50 108 0 0 0.014410 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829338 146829338 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:146829338G>A uc003weu.2 + 8 1600 c.1084_splice c.e8-1 p.G362_splice NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 362 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G362E(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTTTACAGGGAAATTTGAGC 0.433000 HNSCC(39;0.1) 64 38 0 0 0.008740 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23058222 23058222 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:23058222G>A uc003xda.3 - 4 787 c.681C>T c.(679-681)atC>atT p.I227I NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 227 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GGACACACTCGATGTCACTCC 0.587000 110 34 0 0 0.005524 0 0 HLA-F 3134 broad.mit.edu 37 6 29694733 29694733 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:29694733A>T uc003nno.4 + 6 1234 c.1110A>T c.(1108-1110)caA>caT p.Q370H HLA-F_uc011dlx.1_Missense_Mutation_p.Q370H|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript NM_001098479 NP_001091949 P30511 HLAF_HUMAN Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA. 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGCTCTTCCAAGGATATTTGG 0.493000 165 40 0 0 0.007835 0 0 A1CF 29974 broad.mit.edu 37 10 52573757 52573757 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:52573757C>T uc001jjj.3 - 9 1395 c.1207G>A c.(1207-1209)Gca>Aca p.A403T A1CF_uc010qho.2_Missense_Mutation_p.A411T|A1CF_uc010qhn.2_Missense_Mutation_p.A403T|A1CF_uc009xov.3_Missense_Mutation_p.A395T|A1CF_uc001jji.3_Missense_Mutation_p.A395T|A1CF_uc001jjh.3_Missense_Mutation_p.A403T NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 403 Required for nuclear localization. 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 NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCTGTGTATGCCAAATAGCCA 0.483000 48 28 0 0 0.008361 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100480449 100480449 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:100480449T>C uc003huy.3 - 1 360 c.47A>G c.(46-48)gAc>gGc p.D16G RG9MTD2_uc003huz.4_Missense_Mutation_p.D16G|RG9MTD2_uc003hva.4_Missense_Mutation_p.D16G NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA. 16 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) TTGCTTTTTGTCAACATTAGA 0.343000 44 13 0 0 0.020292 0 0 ACTA2 59 broad.mit.edu 37 10 90703574 90703574 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:90703574T>C uc001kfp.3 - 3 465 c.349A>G c.(349-351)Aac>Gac p.N117D STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.N72D|ACTA2_uc001kfq.3_Missense_Mutation_p.N117D|ACTA2_uc010qmz.1_Missense_Mutation_p.N117D NM_001613 NP_001604 P62736 ACTA_HUMAN Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA. 117 N -> T (in AAT6). response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TTCTCCCGGTTGGCCTTGGGG 0.537000 27 25 0 0 0.006320 0 0 PCDH1 5097 broad.mit.edu 37 5 141236975 141236975 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:141236975G>A uc003llp.3 - 3 3278 c.3161C>T c.(3160-3162)tCc>tTc p.S1054F NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ACTGTGCTGGGATGGGTCCTG 0.622000 23 5 0 0 0.001984 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364908 30364908 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:30364908G>A uc002dxr.3 - 3 842 c.589C>T c.(589-591)Cag>Tag p.Q197* CD2BP2_uc002dxs.3_Nonsense_Mutation_p.Q197* NM_001243646 NP_001230575 O95400 CD2B2_HUMAN Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA. 197 assembly of spliceosomal tri-snRNP U5 snRNP|cytoplasm|nucleoplasm protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TCCAGGCGCTGAGGGGAACTG 0.642000 13 11 0 0 0.010729 0 0 GCNT3 9245 broad.mit.edu 37 15 59910965 59910965 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:59910965C>T uc002age.3 + 2 977 c.528C>T c.(526-528)gtC>gtT p.V176V GCNT3_uc002agd.3_Silent_p.V176V|GCNT3_uc021smz.1_Silent_p.V176V NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 176 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAGAGGCGGTCAAAGCAATTA 0.473000 63 30 0 0 0.006320 0 0 ZNF626 199777 broad.mit.edu 37 19 20808398 20808398 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:20808398G>A uc002npb.1 - 3 435 c.285C>T c.(283-285)ttC>ttT p.F95F ZNF626_uc002npc.1_Silent_p.F19F NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CCACTTTTTGGAAAGAATCTT 0.348000 68 16 0 0 0.006122 0 0 LCE1B 353132 broad.mit.edu 37 1 152784987 152784987 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152784987C>T uc001faq.3 + 0 541 c.65C>T c.(64-66)cCc>cTc p.P22L NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 22 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 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) aagtgccctcccaagtgccTC 0.622000 100 34 0 0 0.017118 0 0 NEU2 4759 broad.mit.edu 37 2 233899687 233899687 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:233899687G>A uc010zmn.2 + 1 1063 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 355 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GTGTCTGTACGAAGCCAATGA 0.577000 163 59 0 0 0.014410 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672787 141672787 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:141672787G>A uc003vwx.1 - 0 787 c.703C>T c.(703-705)Cgt>Tgt p.R235C NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 235 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CTGGGGTCACGAGAGTTTCTG 0.498000 42 26 0 0 0.021523 0 0 KIF16B 55614 broad.mit.edu 37 20 16354938 16354938 + Missense_Mutation SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:16354938G>C uc002wpg.2 - 19 3473 c.3314C>G c.(3313-3315)gCt>gGt p.A1105G KIF16B_uc002wpe.1_Missense_Mutation_p.A487G|KIF16B_uc002wpf.1_Missense_Mutation_p.A487G|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Missense_Mutation_p.A1105G NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 1105 Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGATTTTTCAGCACTGACTGG 0.473000 72 29 0 0 0.008361 0 0 EVPL 2125 broad.mit.edu 37 17 74005265 74005265 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:74005265C>T uc010wss.1 - 21 4315 c.4087G>A c.(4087-4089)Gcc>Acc p.A1363T EVPL_uc002jqi.2_Missense_Mutation_p.A1341T|EVPL_uc010wst.1_Missense_Mutation_p.A811T NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1341 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCTTCTGGGCCGCCTCCCGC 0.677000 106 33 0 0 0.017118 0 0 ZAN 7455 broad.mit.edu 37 7 100350369 100350369 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:100350369C>T uc003uwj.3 + 13 2806 c.2641C>T c.(2641-2643)Ccc>Tcc p.P881S ZAN_uc003uwk.3_Missense_Mutation_p.P881S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 881 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACTCACCATCCCCACGGAAAA 0.502000 79 39 0 0 0.021022 0 0 GPR162 27239 broad.mit.edu 37 12 6933632 6933632 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:6933632G>A uc001qqw.1 + 1 1103 c.568G>A c.(568-570)Gga>Aga p.G190R GPR162_uc010sfn.1_Missense_Mutation_p.G190R|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA. 190 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCTACTTGGGGGAATTGTCAT 0.632000 98 24 0 0 0.005443 0 0 TCF23 150921 broad.mit.edu 37 2 27373171 27373171 + Missense_Mutation SNP G A A rs138845716 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:27373171G>A uc010ylg.2 + 1 460 c.403G>A c.(403-405)Gag>Aag p.E135K NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN Homo sapiens transcription factor 23 (TCF23), mRNA. 135 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTCGGCCACGAGTTGCCTGG 0.642000 150 54 0 0 0.014410 0 0 STK33 65975 broad.mit.edu 37 11 8494745 8494745 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:8494745G>A uc001mgi.1 - 1 1223 c.304C>T c.(304-306)Cct>Tct p.P102S STK33_uc001mgj.1_Missense_Mutation_p.P102S|STK33_uc001mgk.1_Missense_Mutation_p.P102S|STK33_uc010rbn.1_Missense_Mutation_p.P61S|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 102 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CTTATGTGAGGAACTTTTCCT 0.393000 94 35 0 0 0.005524 0 0 DEPDC5 9681 broad.mit.edu 37 22 32217490 32217490 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:32217490C>T uc011alu.2 + 22 2075 c.1873C>T c.(1873-1875)Cca>Tca p.P625S DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.P625S|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.P625S|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.P65S|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.2_Intron NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 625 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTGGGTAGGGCCATCCGGAGA 0.532000 103 42 0 0 0.010771 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033087 20033087 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:20033087G>A uc002wrs.3 - 1 415 c.383C>T c.(382-384)tCc>tTc p.S128F C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAACAAACAGGATCTCGGAAC 0.587000 58 57 0 0 0.014410 0 0 CYP11A1 1583 broad.mit.edu 37 15 74635368 74635368 + Missense_Mutation SNP C T T rs6161 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:74635368C>T uc002axt.2 - 4 1095 c.940G>A c.(940-942)Gag>Aag p.E314K CYP11A1_uc002axs.2_Missense_Mutation_p.E156K|CYP11A1_uc010bjm.1_Missense_Mutation_p.E156K|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.E94K NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 314 E -> K (in dbSNP:rs6161). C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding p.E314K(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TTGATGTCCTCGAAGGACATC 0.577000 118 34 0 0 0.019004 0 0 MYO9B 4650 broad.mit.edu 37 19 17267820 17267820 + Missense_Mutation SNP T G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:17267820T>G uc010eak.3 + 6 1453 c.1301T>G c.(1300-1302)gTg>gGg p.V434G MYO9B_uc002nfi.3_Missense_Mutation_p.V434G|MYO9B_uc002nfj.1_Missense_Mutation_p.V434G NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 434 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCACCCGAGGTGCTGGACACC 0.592000 27 10 0 0 0.008291 0 0 RNF17 56163 broad.mit.edu 37 13 25453337 25453337 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:25453337G>A uc001upr.3 + 34 4827 c.4786G>A c.(4786-4788)Gaa>Aaa p.E1596K RNF17_uc010tde.2_Missense_Mutation_p.E1592K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1535K|RNF17_uc010aac.3_Missense_Mutation_p.E788K|RNF17_uc010aad.3_Missense_Mutation_p.E606K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1596 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCAGCACCAGAACAGATAGT 0.408000 23 13 0 0 0.003163 0 0 SLFN11 91607 broad.mit.edu 37 17 33687322 33687322 + Missense_Mutation SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33687322G>C uc002hjg.4 - 2 1385 c.1138C>G c.(1138-1140)Cca>Gca p.P380A SLFN11_uc010ctr.3_Missense_Mutation_p.P380A|SLFN11_uc010ctp.3_Missense_Mutation_p.P380A|SLFN11_uc010ctq.3_Missense_Mutation_p.P380A|SLFN11_uc002hjh.4_Missense_Mutation_p.P380A NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 380 nucleus ATP binding p.P380T(2) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGTACACTGGTCTGCTAAGG 0.393000 79 4 0 0 0.014758 0 0 PAX5 5079 broad.mit.edu 37 9 36882077 36882077 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:36882077G>A uc003zzo.1 - 7 1384 c.936C>T c.(934-936)ctC>ctT p.L312L PAX5_uc011lpt.1_Silent_p.L108L|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Silent_p.L269L|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.L269L|PAX5_uc011lqa.1_Silent_p.L204L|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Silent_p.L312L NM_016734 NP_057953 Q02548 PAX5_HUMAN Homo sapiens paired box 5 (PAX5), mRNA. 312 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22)|p.L312>?(2) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGTACCCGGGGAGGGTCGTGC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 11 8 0 0 0.006214 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232524 193232524 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:193232524G>A uc003ftd.3 - 1 305 c.197C>T c.(196-198)tCc>tTc p.S66F ATP13A4_uc003fte.1_Missense_Mutation_p.S66F|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 66 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCTTGCAAGGAACATGGGAC 0.512000 105 36 0 0 0.005524 0 0 PCSK5 5125 broad.mit.edu 37 9 78911597 78911597 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:78911597G>A uc004akc.2 + 26 3877 c.3339G>A c.(3337-3339)agG>agA p.R1113R NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 816 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTTGTGTGAGGAAATGTGGTC 0.488000 23 15 0 0 0.004990 0 0 IRF7 3665 broad.mit.edu 37 11 612716 612716 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:612716A>G uc001lqg.3 - 8 1890 c.1480T>C c.(1480-1482)Tgc>Cgc p.C494R IRF7_uc009ycb.3_Missense_Mutation_p.C375R|IRF7_uc010qwf.2_Missense_Mutation_p.C480R|IRF7_uc001lqf.3_Missense_Mutation_p.C188R|IRF7_uc010qwg.2_Missense_Mutation_p.C188R|IRF7_uc001lqh.3_Missense_Mutation_p.C481R|IRF7_uc001lqi.3_Missense_Mutation_p.C452R|IRF7_uc010qwh.2_Missense_Mutation_p.C188R NM_004031 NP_004022 Q92985 IRF7_HUMAN Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA. 481 MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.L493L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGACAGGCAGAGGCTGAGG 0.602000 48 20 0 0 0.012319 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336638 42336638 + Missense_Mutation SNP C T T rs142195740 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:42336638C>T uc002igf.4 - 8 918 c.769G>A c.(769-771)Gag>Aag p.E257K SLC4A1_uc021tyc.1_Missense_Mutation_p.E257K NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 257 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACCGGCAGCTCCACCGCCTCC 0.652000 31 15 0 0 0.003163 0 0 CUX1 1523 broad.mit.edu 37 7 101882657 101882657 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:101882657C>T uc003uys.4 + 22 3840 c.3713C>T c.(3712-3714)tCt>tTt p.S1238F CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.S1227F NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1227 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAACCGCCCTCTGTCGGCACC 0.662000 24 14 0 0 0.004990 0 0 CDYL 9425 broad.mit.edu 37 6 4735069 4735069 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:4735069C>T uc003mwi.3 + 2 308 c.177C>T c.(175-177)ccC>ccT p.P59P NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA. 59 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGCAGCCTCCCGCTTTACAGG 0.552000 53 34 0 0 0.013726 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K 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.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 76 34 3.62531e-18 3.71101e-18 0.019004 1 0 PEG3 5178 broad.mit.edu 37 19 57325354 57325354 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57325354C>T uc002qnu.2 - 6 4807 c.4456G>A c.(4456-4458)Gga>Aga p.G1486R PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1457R|PEG3_uc002qnv.2_Missense_Mutation_p.G1486R|PEG3_uc002qnw.2_Missense_Mutation_p.G1362R|PEG3_uc002qnx.2_Missense_Mutation_p.G1360R|PEG3_uc010etr.2_Missense_Mutation_p.G1486R NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1486 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTCAATTCCCACACCGTCA 0.502000 101 39 0 0 0.006230 0 0 SNTG2 54221 broad.mit.edu 37 2 1243537 1243537 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:1243537C>T uc002qwq.3 + 10 1006 c.877C>T c.(877-879)Cct>Tct p.P293S SNTG2_uc010ewi.3_Missense_Mutation_p.P166S NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 293 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATGCTGCTCTCCTTCCGACCA 0.478000 16 7 0 0 0.003080 0 0 ERGIC1 57222 broad.mit.edu 37 5 172336721 172336721 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:172336721C>T uc003mbw.4 + 3 401 c.207C>T c.(205-207)atC>atT p.I69I ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Silent_p.I24I NM_001031711 NP_001026881 Q969X5 ERGI1_HUMAN Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA. 69 ER to Golgi vesicle-mediated transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTGGCAAGATCGACGTCAGTC 0.522000 82 27 0 0 0.010818 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837257 12837257 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12837257G>A uc001aui.3 + 2 994 c.967G>A c.(967-969)Gag>Aag p.E323K NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 323 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCTAAAAGAGCTAGACCT 0.572000 110 56 0 0 0.014410 0 0 IGSF10 285313 broad.mit.edu 37 3 151166599 151166599 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:151166599C>T uc011bod.2 - 3 1170 c.1170G>A c.(1168-1170)agG>agA p.R390R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 390 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAAGTGGCTCCTTTCTAGTA 0.413000 24 11 0 0 0.008291 0 0 LARS 51520 broad.mit.edu 37 5 145523002 145523002 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145523002C>T uc003lnx.1 - 18 2088 c.1850G>A c.(1849-1851)gGa>gAa p.G617E LARS_uc011dbq.1_Missense_Mutation_p.G571E|LARS_uc011dbr.1_Missense_Mutation_p.G563E|LARS_uc011dbs.1_Missense_Mutation_p.G590E NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 617 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding p.H616Y(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTCTGCCTGTCCATGCAAGTT 0.418000 185 69 0 0 0.014410 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22165256 22165256 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:22165256G>A uc003svg.3 - 24 2356 c.2043C>T c.(2041-2043)gtC>gtT p.V681V NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 531 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCAGGGTTCGGACAGTGTCTG 0.468000 79 35 0 0 0.005524 0 0 MYH15 22989 broad.mit.edu 37 3 108127247 108127247 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:108127247C>T uc003dxa.1 - 32 4617 c.4560G>A c.(4558-4560)gaG>gaA p.E1520E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1520 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GATTAGAAATCTCTTCTGGAG 0.418000 40 22 0 0 0.014323 0 0 MCTP1 79772 broad.mit.edu 37 5 94353169 94353169 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:94353169C>T uc003kkx.2 - 1 740 c.740G>A c.(739-741)gGa>gAa p.G247E MCTP1_uc003kkv.2_Missense_Mutation_p.G26E|MCTP1_uc003kkw.2_Missense_Mutation_p.G26E|MCTP1_uc003kkz.2_Intron NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 247 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATTACTGGTTCCAGCAGTGTT 0.378000 46 30 0 0 0.008361 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576105 11576105 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:11576105C>T uc001ash.4 + 5 1774 c.1636C>T c.(1636-1638)Cac>Tac p.H546Y PTCHD2_uc001asi.1_Missense_Mutation_p.H546Y NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 546 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCAGGCCACCCACCTGGAAGA 0.592000 27 14 0 0 0.016723 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646705 80646705 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:80646705G>A uc010ysh.2 + 7 1274 c.1269G>A c.(1267-1269)gaG>gaA p.E423E CTNNA2_uc010yse.2_Silent_p.E423E|CTNNA2_uc010ysf.2_Silent_p.E423E|CTNNA2_uc010ysg.2_Silent_p.E423E|CTNNA2_uc010ysi.2_Silent_p.E55E NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 423 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TTTTCCGTGAGCATGCCAACA 0.443000 47 24 0 0 0.008361 0 0 TCHH 7062 broad.mit.edu 37 1 152085305 152085305 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152085305C>T uc009wne.1 - 2 660 c.388G>A c.(388-390)Gaa>Aaa p.E130K TCHH_uc001ezp.2_Missense_Mutation_p.E130K NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 130 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTTCTTCTTCCAGTTGTCTG 0.552000 236 78 0 0 0.014410 0 0 CEP89 84902 broad.mit.edu 37 19 33406264 33406264 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:33406264G>A uc002nty.3 - 13 1633 c.1544C>T c.(1543-1545)tCa>tTa p.S515L CEP89_uc002ntx.3_Missense_Mutation_p.S268L|CEP89_uc010edg.3_Non-coding_Transcript NM_032816 NP_116205 Q96ST8 CEP89_HUMAN Homo sapiens centrosomal protein 89kDa (CEP89), mRNA. 515 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 ATTCACAATTGATTTATGAAC 0.393000 60 24 0 0 0.004656 0 0 MEOX1 4222 broad.mit.edu 37 17 41738450 41738450 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:41738450C>T uc002idz.3 - 0 482 c.453G>A c.(451-453)cgG>cgA p.R151R MEOX1_uc002iea.3_Silent_p.R151R|MEOX1_uc002ieb.3_Silent_p.R36R NM_004527 NP_001035091 P50221 MEOX1_HUMAN Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA. 151 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) TCTCCTTTCTCCGCCTGGATG 0.577000 190 72 0 0 0.014410 0 0 OR13C9 286362 broad.mit.edu 37 9 107379675 107379675 + Missense_Mutation SNP C T T rs143297558 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:107379675C>T uc011lvr.2 - 0 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TCCAAGTCATCTGAATTAAGT 0.398000 76 29 0 0 0.009535 0 0 MYH4 4622 broad.mit.edu 37 17 10351428 10351428 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:10351428C>T uc002gmn.3 - 33 4783 c.4672G>A c.(4672-4674)Gaa>Aaa p.E1558K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1558 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGCCTTCTTCATGCTCAAGA 0.333000 29 40 0 0 0.006230 0 0 RYR1 6261 broad.mit.edu 37 19 38980829 38980829 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:38980829C>T uc002oit.3 + 35 6058 c.5928C>T c.(5926-5928)cgC>cgT p.R1976R RYR1_uc002oiu.3_Silent_p.R1976R NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1976 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCGGAGCCGCTATGGCCTCC 0.602000 34 11 0 0 0.013537 0 0 TTLL10 254173 broad.mit.edu 37 1 1119384 1119384 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:1119384G>A uc001acy.2 + 11 1324 c.1173G>A c.(1171-1173)atG>atA p.M391I TTLL10_uc010nyg.1_Missense_Mutation_p.M391I|TTLL10_uc001acz.2_Missense_Mutation_p.M318I NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA. 391 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCCTACATGATCTTCTTTG 0.592000 184 93 0 0 0.014410 0 0 LOC644669 644669 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323347T>C uc002ktd.1 - 2 c.112A>G Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. CCAATAAAAGTGGTGTGTGGC 0.303000 9 3 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179408103 179408103 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179408103G>A uc021vsy.1 - 295 89118 c.88893C>T c.(88891-88893)gtC>gtT p.V29631V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V23326V|TTN_uc021vta.1_Silent_p.V23259V|TTN_uc021vtb.1_Silent_p.V23134V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30558 Ig-like 135. 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) GCACTTCTGAGACCAGTACTG 0.458000 37 11 0 0 0.008291 0 0 XKR6 286046 broad.mit.edu 37 8 10756279 10756279 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:10756279G>A uc003wtk.1 - 2 1136 c.1109C>T c.(1108-1110)tCc>tTc p.S370F NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 370 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GATCACTCGGGATGAGATGGT 0.537000 85 35 0 0 0.019004 0 0 SARDH 1757 broad.mit.edu 37 9 136597638 136597638 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:136597638C>T uc004cep.4 - 2 551 c.417G>A c.(415-417)gaG>gaA p.E139E SARDH_uc004ceo.3_Silent_p.E139E|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Silent_p.E139E NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 139 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCCGTCTCCTCCTCCAGCT 0.672000 136 40 0 0 0.009718 0 0 KRT9 3857 broad.mit.edu 37 17 39726149 39726149 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39726149G>A uc002hxe.4 - 2 910 c.844C>T c.(844-846)Cag>Tag p.Q282* JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 282 Coil 1B.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) AGCTCCTCCTGCAGAGTCTCA 0.552000 158 58 0 0 0.014410 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453084 100453084 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:100453084G>A uc001tgq.3 - 13 2200 c.1971C>T c.(1969-1971)ttC>ttT p.F657F UHRF1BP1L_uc001tgp.3_Silent_p.F307F NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 657 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CATGTCTCTGGAAAATTGGAT 0.308000 15 19 0 0 0.007413 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432834 104432834 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:104432834G>A uc004bbp.2 - 2 2461 c.1860C>T c.(1858-1860)ctC>ctT p.L620L GRIN3A_uc004bbq.1_Silent_p.L620L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 620 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCCCTCTCAGGAGATCACCCA 0.498000 44 27 0 0 0.006320 0 0 OR51S1 119692 broad.mit.edu 37 11 4869499 4869499 + Silent SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4869499A>G uc010qyo.2 - 0 940 c.940T>C c.(940-942)Ttg>Ctg p.L314L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGCTGCAACCTGTTGAGT 0.453000 45 23 0 0 0.016522 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830321 130830321 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:130830321C>T uc001uik.3 + 3 485 c.214C>T c.(214-216)Cag>Tag p.Q72* PIWIL1_uc001uij.2_Nonsense_Mutation_p.Q72* NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 72 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGCTGGATTTCAGGAGTTATC 0.373000 25 12 0 0 0.013537 0 0 VPS13C 54832 broad.mit.edu 37 15 62207918 62207918 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:62207918C>T uc002agz.3 - 60 8450 c.8359G>A c.(8359-8361)Gaa>Aaa p.E2787K VPS13C_uc002aha.3_Missense_Mutation_p.E2744K|VPS13C_uc002ahb.2_Missense_Mutation_p.E2787K|VPS13C_uc002ahc.2_Missense_Mutation_p.E2744K|VPS13C_uc002ahd.1_Missense_Mutation_p.E164K NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 2787 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAATATCTTCTGAACGATAC 0.393000 41 13 0 0 0.016723 0 0 COL28A1 340267 broad.mit.edu 37 7 7571504 7571504 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:7571504G>A uc003src.1 - 2 273 c.156C>T c.(154-156)atC>atT p.I52I COL28A1_uc011jxe.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 52 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGCTGTCCACGATGAAGACAA 0.363000 23 19 0 0 0.016522 0 0 KERA 11081 broad.mit.edu 37 12 91449444 91449444 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:91449444C>T uc001tbl.3 - 1 1234 c.615G>A c.(613-615)agG>agA p.R205R NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 205 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GAGGCATATTCCTCAGGGCAT 0.368000 39 33 0 0 0.015359 0 0 IL7R 3575 broad.mit.edu 37 5 35876446 35876446 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:35876446G>A uc003jjs.3 + 7 1327 c.1238G>A c.(1237-1239)aGc>aAc p.S413N IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 413 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ACTACAAACAGCACGCTGCCC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 34 16 0 0 0.003163 0 0 MAGEA12 4111 broad.mit.edu 37 X 151896121 151896121 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:151896121G>A uc004fgb.3 - 3 c.658C>T P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCTTGCCCGGGAATTACTGGC 0.493000 7 3 0 0 0.004672 0 0 ACTN2 88 broad.mit.edu 37 1 236902833 236902833 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:236902833G>A uc001hyf.2 + 10 1311 c.1107_splice c.e10+1 p.S369_splice ACTN2_uc001hyg.2_Splice_Site_p.S161_splice|ACTN2_uc009xgi.1_Splice_Site_p.S369_splice|ACTN2_uc010pxu.1_Intron NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 369 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GATGGTGTCGGTGAGTAGCAA 0.582000 37 10 0 0 0.006214 0 0 AK302879 0 broad.mit.edu 37 15 76074470 76074470 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:76074470A>G uc010umm.1 + 7 649 c.572A>G c.(571-573)cAg>cGg p.Q191R DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 77 10 0 0 0.010504 0 0 XIRP2 129446 broad.mit.edu 37 2 168101126 168101126 + Missense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168101126A>C uc002udx.3 + 8 3313 c.3224A>C c.(3223-3225)gAa>gCa p.E1075A XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E900A|XIRP2_uc010fpq.3_Missense_Mutation_p.E853A|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 900 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTGGAAGAAACAGAAAGT 0.348000 15 7 0 0 0.001984 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106093514 106093514 + Missense_Mutation SNP T G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:106093514T>G uc004emo.3 + 11 2262 c.2097T>G c.(2095-2097)gaT>gaG p.D699E MORC4_uc004emp.4_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 699 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTAAAGATGATGCTGAAGCTG 0.373000 28 24 0 0 0.021523 0 0 MMP20 9313 broad.mit.edu 37 11 102480670 102480670 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:102480670G>A uc001phc.3 - 3 628 c.615C>T c.(613-615)ttC>ttT p.F205F NM_004771 NP_004762 O60882 MMP20_HUMAN Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. 205 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CAGCATTGTCGAAATGTGTAT 0.473000 55 14 0 0 0.007413 0 0 RASAL2 9462 broad.mit.edu 37 1 178412129 178412129 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:178412129C>T uc001glq.3 + 7 2011 c.1247C>T c.(1246-1248)cCa>cTa p.P416L RASAL2_uc001glr.3_Missense_Mutation_p.P268L NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 268 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AAGTGGTATCCAGTGAGTACA 0.418000 34 33 0 0 0.012213 0 0 SCN11A 11280 broad.mit.edu 37 3 38949448 38949448 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38949448G>A uc021wvy.1 - 9 1664 c.1465C>T c.(1465-1467)Caa>Taa p.Q489* NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 489 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACCTTTTTTTGGCAATCTTCA 0.383000 49 22 0 0 0.018920 0 0 FAM70B 348013 broad.mit.edu 37 13 114472075 114472075 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:114472075G>A uc001vuh.3 + 2 221 c.194G>A c.(193-195)gGc>gAc p.G65D NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 65 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) TTTTAGCTCGGCTTTGGATCT 0.433000 59 31 0 0 0.012213 0 0 FAM75C1 441452 broad.mit.edu 37 9 90537259 90537259 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:90537259C>T uc010mqi.3 + 3 2466 c.2437C>T c.(2437-2439)Ccc>Tcc p.P813S FAM75C1_uc004apq.4_Missense_Mutation_p.P796S|DQ578031_uc022bjg.1_5'Flank NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. ACCCACAGTCCCCTTGGGAAC 0.562000 66 22 0 0 0.010818 0 0 PION 54103 broad.mit.edu 37 7 77010632 77010632 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:77010632C>T uc003ugf.3 - 7 645 c.566G>A c.(565-567)gGa>gAa p.G189E PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 189 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding p.G189V(2)|p.G189G(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACTCTATTTCCATCTTCTTG 0.284000 27 13 0 0 0.004007 0 0 PAX4 5078 broad.mit.edu 37 7 127253841 127253841 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:127253841G>A uc010lld.1 - 3 713 c.507C>T c.(505-507)ttC>ttT p.F169F PAX4_uc003vmf.2_Silent_p.F167F|PAX4_uc003vmg.1_Silent_p.F169F|PAX4_uc003vmh.3_Silent_p.F167F NM_006193 NP_006184 O43316 PAX4_HUMAN Homo sapiens paired box 4 (PAX4), mRNA. 177 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGCTTGGGGAGAAGATAGTCC 0.612000 71 36 0 0 0.005524 0 0 EPPK1 83481 broad.mit.edu 37 8 144944041 144944041 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144944041C>T uc003zaa.1 - 0 3394 c.3381G>A c.(3379-3381)caG>caA p.Q1127Q NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1127 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCTCTGGACCTGCTCCTCGG 0.672000 7 6 0 0 0.003080 0 0 MYO3B 140469 broad.mit.edu 37 2 171238569 171238569 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:171238569G>A uc002ufy.3 + 9 1158 c.1015G>A c.(1015-1017)Gct>Act p.A339T MYO3B_uc002ufv.3_Missense_Mutation_p.A326T|MYO3B_uc010fqb.1_Missense_Mutation_p.A339T|MYO3B_uc002ufz.3_Missense_Mutation_p.A339T|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.A326T|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 339 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTGGAAGATGCTGAAAAATA 0.363000 32 10 0 0 0.013537 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681030 176681030 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:176681030C>T uc001gkz.3 + 11 4875 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1237 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGGTTTCCCTGTGTTGCCA 0.453000 75 22 0 0 0.014323 0 0 LNPEP 4012 broad.mit.edu 37 5 96333773 96333773 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:96333773C>T uc003kmv.1 + 7 2091 c.1577C>T c.(1576-1578)tCa>tTa p.S526L LNPEP_uc003kmw.1_Missense_Mutation_p.S512L NM_005575 NP_787116 Q9UIQ6 LCAP_HUMAN Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. 526 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TCCTTAAATTCATCTCATCCA 0.294000 62 18 0 0 0.004990 0 0 XDH 7498 broad.mit.edu 37 2 31571809 31571809 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31571809G>A uc002rnv.1 - 26 3086 c.3007C>T c.(3007-3009)Ccc>Tcc p.P1003S NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1003 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) AACTTGGTGGGAATTATGCAC 0.388000 20 11 0 0 0.013537 0 0 LRFN2 57497 broad.mit.edu 37 6 40400344 40400344 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:40400344C>T uc003oph.1 - 1 974 c.509G>A c.(508-510)cGa>cAa p.R170Q NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 170 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GACCATGCGTCGCACGGAGTC 0.602000 79 19 0 0 0.010504 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C G G rs3874227 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:25161397C>G uc001upm.3 + 7 c.921C>G TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. TGAAACATCTCTACAACTGGA 0.343000 37 3 0 0 0.014758 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651708 84651708 + Missense_Mutation SNP G A A rs146998252 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:84651708G>A uc002bjz.4 + 20 3552 c.3328G>A c.(3328-3330)Gga>Aga p.G1110R ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1110R NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1110 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CATGGAAACCGGAGAGGTCAG 0.498000 67 22 0 0 0.012319 0 0 ZNF594 84622 broad.mit.edu 37 17 5085600 5085600 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:5085600G>A uc010cla.1 - 1 2108 c.1952C>T c.(1951-1953)cCc>cTc p.P651L ZNF594_uc021tol.1_Missense_Mutation_p.P651L NM_032530 NP_115919 Q96JF6 ZN594_HUMAN Homo sapiens zinc finger protein 594 (ZNF594), mRNA. 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K650N(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACATTCATAGGGTTTCTCTCC 0.423000 37 45 0 0 0.013114 0 0 CST1 1469 broad.mit.edu 37 20 23729758 23729758 + Silent SNP C T T rs146690838 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:23729758C>T uc002wtp.3 - 1 308 c.237G>A c.(235-237)ggG>ggA p.G79G NM_001898 NP_001889 P01037 CYTN_HUMAN Homo sapiens cystatin SN (CST1), mRNA. 79 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) AATTCACCCCCCCAACGGTCT 0.567000 210 61 0 0 0.014410 0 0 TMEM211 255349 broad.mit.edu 37 22 25331525 25331525 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:25331525G>A uc003abk.1 - 2 190 c.165C>T c.(163-165)atC>atT p.I55I NM_001001663 NP_001001663 Q6ICI0 TM211_HUMAN Homo sapiens transmembrane protein 211 (TMEM211), mRNA. 126 integral to membrane p.I55I(2) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 AGGCAAGGCCGATTGGGAAAA 0.517000 44 18 0 0 0.006122 0 0 HIP1 3092 broad.mit.edu 37 7 75174474 75174474 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:75174474G>A uc003uds.2 - 25 2617 c.2572C>T c.(2572-2574)Cct>Tct p.P858S HIP1_uc011kfz.2_Missense_Mutation_p.P807S NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 858 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.P860A(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AACTCTTTAGGGGATGCTGTA 0.413000 T PDGFRB CMML 110 41 0 0 0.014410 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518408 7518408 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:7518408C>T uc002mgi.3 + 6 1600 c.1347C>T c.(1345-1347)atC>atT p.I449I ARHGEF18_uc010xjm.1_Silent_p.I291I|ARHGEF18_uc002mgh.3_Silent_p.I291I|ARHGEF18_uc002mgj.1_Silent_p.I92I NM_001130955 NP_056133 Q6ZSZ5 ARHGI_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA. 449 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) TCAAAGATATCATCTCACAAG 0.507000 49 29 0 0 0.009535 0 0 C9orf163 158055 broad.mit.edu 37 9 139379493 139379493 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:139379493C>T uc004chy.3 + 0 1547 c.593C>T c.(592-594)tCc>tTc p.S198F SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank NM_152571 NP_689784 Q8N9P6 CI163_HUMAN Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA. 198 protein binding kidney(1)|lung(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) ACCCTGTGGTCCCACCGGGGT 0.607000 OREG0019617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 4 0 0 0.009096 0 0 HCN4 10021 broad.mit.edu 37 15 73636054 73636054 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:73636054G>A uc002avp.3 - 1 1875 c.881C>T c.(880-882)cCc>cTc p.P294L NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 294 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GACAATCCAGGGTGTGGTGTT 0.502000 55 17 0 0 0.004007 0 0 VPS13D 55187 broad.mit.edu 37 1 12368579 12368579 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12368579G>A uc001atv.3 + 26 6672 c.6531G>A c.(6529-6531)aaG>aaA p.K2177K VPS13D_uc001atw.3_Silent_p.K2177K|VPS13D_uc001atx.3_Silent_p.K1365K|VPS13D_uc001aty.1_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2177 protein localization p.S2176L(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATACTCGAAGGCACCAGAGG 0.502000 130 48 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 215848664 215848664 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:215848664C>T uc001hku.1 - 62 12976 c.12589G>A c.(12589-12591)Gga>Aga p.G4197R NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4197 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGCTTTTCCCTCGAAGCAT 0.418000 HNSCC(13;0.011) 160 20 0 0 0.008871 0 0 DYM 54808 broad.mit.edu 37 18 46645158 46645158 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:46645158G>A uc002ldi.1 - 14 2067 c.1702C>T c.(1702-1704)Cga>Tga p.R568* DYM_uc010xdf.1_Nonsense_Mutation_p.R378*|DYM_uc002ldj.3_Nonsense_Mutation_p.R390* NM_017653 NP_060123 Q7RTS9 DYM_HUMAN Homo sapiens dymeclin (DYM), mRNA. 568 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGATGAGTTCGAAATTGTTCA 0.358000 17 10 0 0 0.010729 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535728 124535728 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:124535728C>T uc004bln.3 + 11 2906 c.2837C>T c.(2836-2838)tCc>tTc p.S946F DAB2IP_uc004blo.3_Missense_Mutation_p.S850F|DAB2IP_uc004blp.3_Missense_Mutation_p.S379F NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 974 Pro-rich. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 TCCTCTTCCTCCAAGGGGGAC 0.657000 9 7 0 0 0.003080 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433453 140433453 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140433453G>A uc003lik.1 + 0 2475 c.2398G>A c.(2398-2400)Gat>Aat p.D800N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 800 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D800E(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAAATTCTGATAGGAATAA 0.443000 65 37 0 0 0.019004 0 0 MUC16 94025 broad.mit.edu 37 19 9059777 9059777 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9059777C>T uc002mkp.3 - 2 27873 c.27669G>A c.(27667-27669)ctG>ctA p.L9223L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9225 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCATCTCCAGTTTCTCTG 0.463000 68 28 0 0 0.006320 0 0 FZD5 7855 broad.mit.edu 37 2 208632177 208632177 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:208632177G>A uc021vvr.1 - 0 1287 c.1287C>T c.(1285-1287)atC>atT p.I429I FZD5_uc002vcj.3_Silent_p.I429I NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 429 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) TGACGCTGCGGATGCGGAAGA 0.647000 30 11 0 0 0.008291 0 0 CRB1 23418 broad.mit.edu 37 1 197404165 197404165 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:197404165G>A uc001gtz.3 + 8 3381 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1058 Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.E1058K(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGACAACGAAACACCTTT 0.443000 112 26 0 0 0.007291 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231166 42231166 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42231166C>T uc002orl.3 + 8 2160 c.2039C>T c.(2038-2040)tCt>tTt p.S680F CEACAM5_uc002orj.1_Missense_Mutation_p.S679F NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 680 anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCTGGAACTTCTCCTGGTCTC 0.498000 324 154 0 0 0.014410 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41049459 41049459 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:41049459C>T uc003jmj.4 - 13 1914 c.1424G>A c.(1423-1425)aGa>aAa p.R475K HEATR7B2_uc003jmi.4_Missense_Mutation_p.R30K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 475 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AATCAGAATTCTGATGATACT 0.478000 22 9 0 0 0.004482 0 0 ZNF18 7566 broad.mit.edu 37 17 11894356 11894356 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:11894356G>A uc002gng.1 - 4 1117 c.512C>T c.(511-513)tCc>tTc p.S171F ZNF18_uc002gnh.1_Missense_Mutation_p.S171F|ZNF18_uc002gni.1_Missense_Mutation_p.S171F NM_144680 NP_653281 P17022 ZNF18_HUMAN Homo sapiens zinc finger protein 18 (ZNF18), mRNA. 171 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) AGGCCCTGAGGATGAATTCTC 0.522000 84 153 0 0 0.014410 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120372 38120372 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:38120372C>T uc003atr.3 + 6 2080 c.1809C>T c.(1807-1809)gcC>gcT p.A603A TRIOBP_uc003atu.3_Silent_p.A431A|TRIOBP_uc003atq.1_Silent_p.A603A|TRIOBP_uc003ats.1_Silent_p.A431A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 603 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCCTGTGCCCAGCGGGACA 0.587000 227 14 0 0 0.003163 0 0 INSRR 3645 broad.mit.edu 37 1 156813996 156813996 + Silent SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:156813996A>C uc010pht.2 - 14 3113 c.2814T>G c.(2812-2814)gcT>gcG p.A938A NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 938 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AACCAAGGGCAGCAAGAACGA 0.587000 72 16 0 0 0.006122 0 0 KLHL4 56062 broad.mit.edu 37 X 86887333 86887333 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:86887333G>A uc004efa.2 + 6 1630 c.1448G>A c.(1447-1449)gGa>gAa p.G483E KLHL4_uc004efb.2_Missense_Mutation_p.G483E NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 483 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTCGTGGGAGGAAGAGACGGT 0.448000 17 14 0 0 0.016723 0 0 MYO18B 84700 broad.mit.edu 37 22 26242175 26242175 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26242175G>A uc003abz.1 + 18 3727 c.3477G>A c.(3475-3477)atG>atA p.M1159I MYO18B_uc003aca.1_Missense_Mutation_p.M1040I|MYO18B_uc010guy.1_Missense_Mutation_p.M1041I|MYO18B_uc010guz.1_Missense_Mutation_p.M1040I|MYO18B_uc011aka.1_Missense_Mutation_p.M313I|MYO18B_uc011akb.1_Missense_Mutation_p.M672I NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1159 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGAGCCGCATGGTGAGGAGGA 0.662000 31 13 0 0 0.004007 0 0 SV2C 22987 broad.mit.edu 37 5 75427754 75427754 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:75427754C>T uc003kei.1 + 1 313 c.179C>T c.(178-180)cCg>cTg p.P60L NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 60 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.P60Q(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GACTACTACCCGGCTGGAGAA 0.493000 43 23 0 0 0.018920 0 0 SCAND3 114821 broad.mit.edu 37 6 28540378 28540378 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:28540378C>T uc003nlo.3 - 3 3906 c.3288G>A c.(3286-3288)gtG>gtA p.V1096V NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1096 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ctgtccaattcacatctttaa 0.363000 57 18 0 0 0.004990 0 0 MKLN1 4289 broad.mit.edu 37 7 131149126 131149126 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:131149126C>T uc011kpm.2 + 13 1811 c.1747C>T c.(1747-1749)Cca>Tca p.P583S MKLN1_uc011kpl.2_Missense_Mutation_p.P560S|MKLN1_uc010lmh.2_Missense_Mutation_p.P583S|MKLN1_uc003vqs.3_Missense_Mutation_p.P376S|MKLN1_uc003vqu.3_Missense_Mutation_p.P73S NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA. 583 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) AGAACCATGTCCAAGGTTTGC 0.408000 26 7 0 0 0.006214 0 0 NT5C3 51251 broad.mit.edu 37 7 33063712 33063712 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:33063712C>T uc003tdk.3 - 2 338 c.261G>A c.(259-261)acG>acA p.T87T AVL9_uc011kai.2_Intron|NT5C3_uc022abo.1_Silent_p.T36T|NT5C3_uc003tdi.3_Silent_p.T48T|NT5C3_uc003tdj.3_Silent_p.T48T NM_001002010 NP_001159590 Q9H0P0 5NT3_HUMAN Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA. 87 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(11;0.0894) TATCAAAGTCCGTTATTATCT 0.348000 16 5 0 0 0.014758 0 0 SCRIB 23513 broad.mit.edu 37 8 144873582 144873582 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144873582G>A uc003yzp.1 - 34 4731 c.4724C>T c.(4723-4725)tCc>tTc p.S1575F SCRIB_uc003yzn.1_Missense_Mutation_p.S308F|SCRIB_uc003yzo.1_Missense_Mutation_p.S1600F NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1575 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGGTTCCAGGGACCTCAACTC 0.672000 12 4 0 0 0.009096 0 0 NFASC 23114 broad.mit.edu 37 1 204949559 204949559 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204949559C>T uc010prc.2 + 18 2468 c.939C>T c.(937-939)atC>atT p.I313I NFASC_uc001hbj.3_Silent_p.I746I|NFASC_uc010pra.2_Silent_p.I742I|NFASC_uc001hbi.3_Silent_p.I742I|NFASC_uc010prb.2_Silent_p.I757I|NFASC_uc001hbk.1_Silent_p.I552I|NFASC_uc001hbl.2_5'Flank O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 746 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACATGGAGATCACGTGGACGG 0.602000 13 15 0 0 0.004007 0 0 DDIT4L 115265 broad.mit.edu 37 4 101109086 101109086 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:101109086C>T uc003hvq.3 - 2 575 c.330G>A c.(328-330)gtG>gtA p.V110V NM_145244 NP_660287 Q96D03 DDT4L_HUMAN Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA. 110 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TTTCCAAGTTCACGTGCATAA 0.463000 38 14 0 0 0.016723 0 0 C3AR1 719 broad.mit.edu 37 12 8212250 8212250 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:8212250G>A uc001qtv.1 - 1 624 c.532C>T c.(532-534)Ctc>Ttc p.L178F C3AR1_uc021quj.1_Missense_Mutation_p.L178F NM_004054 NP_004045 Q16581 C3AR_HUMAN Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA. 178 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GAGCTGGAGAGACCAAATTTG 0.418000 52 51 0 0 0.014410 0 0 MYO7B 4648 broad.mit.edu 37 2 128327441 128327441 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:128327441C>T uc002top.3 + 5 601 c.548C>T c.(547-549)tCg>tTg p.S183L NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 183 Myosin head-like. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGCCAGCATTCGTGGATTGAG 0.632000 19 16 0 0 0.003163 0 0 BACH1 571 broad.mit.edu 37 21 30693751 30693751 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:30693751C>T uc002ynk.3 + 1 393 c.150C>T c.(148-150)tcC>tcT p.S50S BACH1_uc002ynj.3_Silent_p.S50S|BACH1_uc002ynl.2_Non-coding_Transcript NM_206866 NP_996749 O14867 BACH1_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA. 50 BTB. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CTCACCGGTCCGTGCTGGCGG 0.527000 60 19 0 0 0.010504 0 0 ZNF98 148198 broad.mit.edu 37 19 22575475 22575475 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:22575475C>T uc002nqt.2 - 3 684 c.562G>A c.(562-564)Gaa>Aaa p.E188K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AATGACTTTTCACATTCTTTA 0.308000 6 5 0 0 0.001984 0 0 C11orf70 85016 broad.mit.edu 37 11 101946634 101946634 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:101946634G>A uc001pgp.3 + 4 499 c.466G>A c.(466-468)Gaa>Aaa p.E156K C11orf70_uc001pgo.3_Silent_p.*100*|C11orf70_uc001pgq.3_Missense_Mutation_p.E118K NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 156 p.E118*(1) breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGAAAAATATGAAATATTCAG 0.343000 36 17 0 0 0.010504 0 0 OR51F2 119694 broad.mit.edu 37 11 4842868 4842868 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4842868C>T uc010qyn.2 + 0 253 c.253C>T c.(253-255)Ctg>Ttg p.L85L NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCACAGACCTGAGCTTGTC 0.473000 102 42 0 0 0.006999 0 0 LTBP3 4054 broad.mit.edu 37 11 65315176 65315177 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:65315176_65315177CC>TT uc001oej.3 - 12 2231_2232 c.1962_1963GG>AA c.(1960-1965)gggggg>ggAAgg p.G655R LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Missense_Mutation_p.G85R|LTBP3_uc010roi.2_Missense_Mutation_p.G538R|LTBP3_uc001oei.3_Missense_Mutation_p.G655R|LTBP3_uc010roj.2_Missense_Mutation_p.G356R|LTBP3_uc010rok.1_Missense_Mutation_p.G566R NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. 655 Cys-rich.|EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CACGAGCGCCCCCCGGCGCCCA 0.738000 14 9 0 0 0.004672 0 0 DMXL1 1657 broad.mit.edu 37 5 118487677 118487677 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:118487677C>T uc010jcl.1 + 18 4829 c.4648C>T c.(4648-4650)Cat>Tat p.H1550Y DMXL1_uc003ksd.2_Missense_Mutation_p.H1550Y|DMXL1_uc021ycw.1_Missense_Mutation_p.H1377Y NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1550 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) TGTTCGACTCCATACCTTTCT 0.373000 58 17 0 0 0.012319 0 0 GRK4 2868 broad.mit.edu 37 4 3031062 3031062 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:3031062G>A uc003ggn.1 + 11 1650 c.1195G>A c.(1195-1197)Gat>Aat p.D399N GRK4_uc003ggo.1_Missense_Mutation_p.D399N|GRK4_uc003ggp.1_Missense_Mutation_p.D367N|GRK4_uc003ggq.1_Missense_Mutation_p.D367N NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 399 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAGGAGGTCGATCAAAGAAT 0.438000 30 14 0 0 0.003163 0 0 MYO5C 55930 broad.mit.edu 37 15 52498025 52498025 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:52498025G>A uc010bff.3 - 36 4687 c.4525C>T c.(4525-4527)Caa>Taa p.Q1509* MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1509 Dilute. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ATTATCGGTTGGATATTCTTT 0.284000 27 12 0 0 0.013537 0 0 CD5 921 broad.mit.edu 37 11 60886998 60886998 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:60886998G>A uc009ynk.3 + 4 859 c.756G>A c.(754-756)agG>agA p.R252R NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 252 SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) ATTGCTTCAGGAAAATCAAGC 0.572000 34 16 0 0 0.006122 0 0 TMEM161B 153396 broad.mit.edu 37 5 87564666 87564666 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:87564666G>A uc003kjc.3 - 1 1 c.-124_splice c.e1-1 TMEM161B_uc011cty.2_Splice_Site|TMEM161B_uc010jax.3_Splice_Site|TMEM161B_uc011ctz.1_Splice_Site|TMEM161B-AS1_uc003kjd.3_5'Flank|TMEM161B-AS1_uc021ybc.1_5'Flank|TMEM161B-AS1_uc021ybd.1_5'Flank|TMEM161B-AS1_uc003kje.3_5'Flank NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN Homo sapiens transmembrane protein 161B (TMEM161B), mRNA. integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) CGGCTCTGCCGGAAGTTGTGC 0.622000 7 4 0 0 0.009096 0 0 CSMD2 114784 broad.mit.edu 37 1 34208985 34208985 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:34208985C>T uc001bxm.1 - 13 2246 c.2069G>A c.(2068-2070)gGa>gAa p.G690E CSMD2_uc001bxn.1_Missense_Mutation_p.G650E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 650 Sushi 4. 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) AAGCTGGTTTCCTGAGAAGGT 0.587000 43 31 0 0 0.009535 0 0 TFAMP1 260341 broad.mit.edu 37 7 1654682 1654682 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:1654682G>A uc003slb.3 + 0 c.577G>A Homo sapiens transcription factor A, mitochondrial pseudogene 1 (TFAMP1), non-coding RNA. ACACTGCTTGGAAAACCAAAA 0.358000 13 5 0 0 0.001984 0 0 PDE8A 5151 broad.mit.edu 37 15 85669540 85669540 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:85669540C>T uc002blh.3 + 19 2377 c.2188C>T c.(2188-2190)Ccc>Tcc p.P730S PDE8A_uc021stv.1_Missense_Mutation_p.P658S|PDE8A_uc002bli.3_Missense_Mutation_p.P684S|PDE8A_uc010bnc.3_Missense_Mutation_p.P483S|PDE8A_uc010bnd.3_Missense_Mutation_p.P483S|PDE8A_uc002blj.3_Missense_Mutation_p.P350S|PDE8A_uc002blk.3_Missense_Mutation_p.P350S|PDE8A_uc002bll.3_Missense_Mutation_p.P82S NM_002605 NP_001230066 O60658 PDE8A_HUMAN Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA. 730 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGTGTCCAATCCCTGCCGACC 0.448000 57 51 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188595 140188595 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140188595C>T uc003lhi.2 + 0 1924 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S608L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S608L NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 621 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTACGAGCTG 0.677000 63 22 0 0 0.014323 0 0 MICAL2 9645 broad.mit.edu 37 11 12225819 12225819 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:12225819C>T uc001mjz.3 + 3 575 c.287C>T c.(286-288)cCc>cTc p.P96L MICAL2_uc010rch.1_Missense_Mutation_p.P96L|MICAL2_uc001mjy.3_Missense_Mutation_p.P96L|MICAL2_uc001mka.3_Missense_Mutation_p.P96L|MICAL2_uc010rci.2_Missense_Mutation_p.P96L|MICAL2_uc001mkb.3_Missense_Mutation_p.P96L|MICAL2_uc001mkc.3_Missense_Mutation_p.P96L NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 96 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.P96P(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GGGGGAGGACCCTGTGGCTTG 0.557000 35 8 0 0 0.016723 0 0 TMTC4 84899 broad.mit.edu 37 13 101289912 101289912 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:101289912G>A uc001vot.3 - 8 1192 c.879C>T c.(877-879)acC>acT p.T293T TMTC4_uc001vou.3_Silent_p.T274T|TMTC4_uc010tja.2_Silent_p.T163T|TMTC4_uc001vov.1_Silent_p.T19T|TMTC4_uc001vow.1_Silent_p.T57T NM_032813 NP_001073137 Q5T4D3 TMTC4_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA. 274 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGTGAGCAGGGTCATTCTGA 0.607000 77 27 0 0 0.009535 0 0 DSC1 1823 broad.mit.edu 37 18 28712551 28712551 + Missense_Mutation SNP C T T rs147041330 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28712551C>T uc002kwn.3 - 13 2480 c.2218G>A c.(2218-2220)Gga>Aga p.G740R DSC1_uc002kwm.3_Missense_Mutation_p.G740R NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 740 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.G740G(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCTCCAGGTCCTTCAGTATTT 0.343000 76 18 0 0 0.008871 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784275 8784275 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:8784275G>A uc002glt.3 - 17 2509 c.2442C>T c.(2440-2442)ccC>ccT p.P814P PIK3R5_uc010vuz.2_Silent_p.P814P|PIK3R5_uc021tqc.1_Silent_p.P428P|PIK3R5_uc010cob.2_Silent_p.P428P|PIK3R5_uc010coa.2_Silent_p.P428P|PIK3R5_uc002glu.4_Silent_p.P428P NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 814 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 ACACAGCAAAGGGGCAGCTGT 0.567000 38 64 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 216373145 216373145 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:216373145G>A uc001hku.1 - 16 4022 c.3635C>T c.(3634-3636)cCa>cTa p.P1212L USH2A_uc001hkv.3_Missense_Mutation_p.P1212L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1212 Fibronectin type-III 2. P -> L (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.V1211F(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTGGCAAATGGAACCAGATT 0.498000 HNSCC(13;0.011) 90 39 0 0 0.007835 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001293 13001293 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:13001293C>T uc001auq.2 - 2 476 c.390G>A c.(388-390)agG>agA p.R130R PRAMEF6_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN Homo sapiens PRAME family member 6 (PRAMEF6), mRNA. 130 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGTTTTGTTCCTCTTGGCAT 0.498000 697 98 0 0 0.014410 0 0 FEM1A 55527 broad.mit.edu 37 19 4793311 4793311 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:4793311C>T uc002mbf.3 + 0 1584 c.1445C>T c.(1444-1446)cCc>cTc p.P482L AK126532_uc002mbg.1_Non-coding_Transcript NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA. 482 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CTGCAGCTGCCCAGGGAGCCC 0.657000 49 29 0 0 0.008361 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794283 21794283 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:21794283C>T uc001wag.3 + 15 2661 c.2661C>T c.(2659-2661)ggC>ggT p.G887G RPGRIP1_uc001wah.3_Silent_p.G529G|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Silent_p.G362G|RPGRIP1_uc010aim.3_Silent_p.G270G|RPGRIP1_uc001wal.3_Silent_p.G246G|RPGRIP1_uc001wam.3_Silent_p.G204G NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 887 C2. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CGTATCTTGGCCGAGCCCGAG 0.483000 23 10 0 0 0.008291 0 0 NAT2 10 broad.mit.edu 37 8 18257576 18257576 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:18257576G>A uc022asl.1 + 0 63 c.63G>A c.(61-63)ttG>ttA p.L21L NAT2_uc003wyw.1_Silent_p.L21L NM_000015 NP_000006 P11245 ARY2_HUMAN Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA. 21 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity p.L21F(2) kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AATTGGACTTGGAAACATTAA 0.398000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 83 39 0 0 0.021022 0 0 PCNXL2 80003 broad.mit.edu 37 1 233275579 233275579 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233275579G>A uc001hvl.2 - 19 3775 c.3540C>T c.(3538-3540)ttC>ttT p.F1180F PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1180 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGAGTCTTTCGAACCACATTA 0.323000 13 29 0 0 0.015359 0 0 SREBF2 6721 broad.mit.edu 37 22 42269900 42269900 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:42269900G>T uc003bbi.3 + 4 1135 c.966G>T c.(964-966)caG>caT p.Q322H bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 322 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GAGTCAAGCAGCTTGAGCCCC 0.498000 23 18 1.99824e-07 2.03346e-07 0.004990 1 0 FAM75A6 389730 broad.mit.edu 37 9 43625310 43625310 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:43625310G>T uc011lrb.2 - 3 3406 c.3377C>A c.(3376-3378)aCt>aAt p.T1126N NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 1126 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 AAGTTGAGGAGTCCTCAATCC 0.468000 121 60 9.4237e-28 9.68082e-28 0.014410 1 0 SEPHS2 22928 broad.mit.edu 37 16 30456450 30456450 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:30456450C>T uc021tgl.1 - 0 775 c.599G>A c.(598-600)cGg>cAg p.R200Q SEPHS2_uc002dyh.1_Missense_Mutation_p.R143Q NM_012248 Q99611 SPS2_HUMAN Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA. 200 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 AGCCGCATCCCGAAAGCCTTT 0.522000 76 36 0 0 0.006999 0 0 MEOX2 4223 broad.mit.edu 37 7 15666406 15666406 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:15666406C>T uc003stc.3 - 1 936 c.655G>A c.(655-657)Gag>Aag p.E219K NM_005924 NP_005915 P50222 MEOX2_HUMAN Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA. 219 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) ACTGCTATCTCGTATCGCCTC 0.418000 64 25 0 0 0.007291 0 0 PEG3 5178 broad.mit.edu 37 19 57328195 57328195 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57328195C>T uc002qnu.2 - 6 1966 c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E510K|PEG3_uc002qnv.2_Missense_Mutation_p.E539K|PEG3_uc002qnw.2_Missense_Mutation_p.E415K|PEG3_uc002qnx.2_Missense_Mutation_p.E413K|PEG3_uc010etr.2_Missense_Mutation_p.E539K NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 539 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCACATTCCTGATTCTTA 0.443000 98 34 0 0 0.005524 0 0 TMEM108 66000 broad.mit.edu 37 3 133098997 133098997 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:133098997G>A uc003epi.3 + 3 712 c.442G>A c.(442-444)Ggg>Agg p.G148R TMEM108_uc003eph.3_Missense_Mutation_p.G148R|TMEM108_uc003epj.1_Missense_Mutation_p.G148R|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 148 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AAAGCCACCGGGGGCCACCAG 0.701000 16 9 0 0 0.006214 0 0 DNAH7 56171 broad.mit.edu 37 2 196788411 196788411 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:196788411G>A uc002utj.4 - 22 3834 c.3733C>T c.(3733-3735)Cat>Tat p.H1245Y NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1245 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTCTAGCATGGACATCCAGT 0.413000 40 9 0 0 0.004482 0 0 MKL1 57591 broad.mit.edu 37 22 40819553 40819553 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:40819553G>A uc003ayv.1 - 5 821 c.614C>T c.(613-615)cCc>cTc p.P205L MKL1_uc010gyf.1_Intron|MKL1_uc003ayw.1_Missense_Mutation_p.P205L|MKL1_uc010gye.1_Missense_Mutation_p.P205L NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 205 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 AATGAGTGTGGGGGTGGACTT 0.572000 T RBM15 acute megakaryocytic leukemia 39 15 0 0 0.003163 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171384 171384 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:171384C>T uc003jak.2 + 13 2857 c.2807C>T c.(2806-2808)cCc>cTc p.P936L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 936 DH. 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) CTGCTGCGGCCCGTGCAGCGT 0.687000 16 4 0 0 0.001984 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914071 39914071 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:39914071G>A uc010xuz.2 + 17 2702 c.2377G>A c.(2377-2379)Gat>Aat p.D793N PLEKHG2_uc010xuy.2_Missense_Mutation_p.D734N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.D571N NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 793 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.A792V(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GATCCTGGAGGATTCGGATCT 0.647000 8 3 0 0 0.004672 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164380 12164380 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:12164380C>T uc003nac.3 + 8 8022 c.7843C>T c.(7843-7845)Ctg>Ttg p.L2615L 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. 2615 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) AAAAAAAGTTCTGAATCCACC 0.542000 52 20 0 0 0.012319 0 0 PXDNL 137902 broad.mit.edu 37 8 52567284 52567284 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:52567284C>T uc003xqu.4 - 1 302 c.201G>A c.(199-201)ggG>ggA p.G67G NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 67 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGAAGGCGCTCCCTGGAATTT 0.373000 35 16 0 0 0.004990 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427331 27427331 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:27427331G>A uc010eyv.1 - 9 1325 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* SLC5A6_uc002rjd.3_Nonsense_Mutation_p.Q335* NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 335 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CTTCTCACCTGGTCTGGGGCT 0.592000 48 14 0 0 0.020292 0 0 C10orf113 387638 broad.mit.edu 37 10 21414888 21414888 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:21414888G>A uc001iqm.3 - 1 383 c.332C>T c.(331-333)cCa>cTa p.P111L NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 111 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 CCAGTTGCCTGGATCTGGTTC 0.537000 44 19 0 0 0.008871 0 0 SLC4A11 83959 broad.mit.edu 37 20 3208477 3208477 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:3208477C>T uc010zqe.2 - 19 2838 c.2713G>A c.(2713-2715)Gaa>Aaa p.E905K SLC4A11_uc002wig.3_Missense_Mutation_p.E878K|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.E862K NM_001174090 NP_001167561 Q8NBS3 S4A11_HUMAN Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA. 878 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TACTTGGCTTCAATGATTCGG 0.627000 40 16 0 0 0.006122 0 0 VWA3B 200403 broad.mit.edu 37 2 98914416 98914416 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:98914416C>T uc002syo.3 + 23 3468 c.3204C>T c.(3202-3204)ttC>ttT p.F1068F VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.F725F|VWA3B_uc002syp.1_Silent_p.F460F|VWA3B_uc002syq.1_Silent_p.F344F|VWA3B_uc002syr.1_Silent_p.F385F|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 1068 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGGTGGGCTTCAGTTACGGAG 0.537000 53 25 0 0 0.004656 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101575017 101575017 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:101575017C>T uc003knm.3 - 11 2239 c.1952G>A c.(1951-1953)gGa>gAa p.G651E NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 651 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TCCTTTAATTCCACAATCATT 0.333000 43 22 0 0 0.014323 0 0 TRHR 7201 broad.mit.edu 37 8 110131511 110131511 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:110131511A>G uc003ymz.4 + 1 1113 c.1024A>G c.(1024-1026)Aca>Gca p.T342A NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 342 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.T342K(1)|p.P341L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GCAGAAGCCAACAGAGAAACC 0.463000 88 33 0 0 0.010818 0 0 UNC5CL 222643 broad.mit.edu 37 6 41002663 41002663 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:41002663C>T uc003opi.3 - 1 250 c.151G>A c.(151-153)Gaa>Aaa p.E51K UNC5CL_uc010jxe.1_Missense_Mutation_p.E51K NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA. 51 signal transduction cytoplasm|integral to membrane p.E50*(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GACACTGGTTCCTCTTGACCA 0.592000 73 22 0 0 0.014323 0 0 RANBP17 64901 broad.mit.edu 37 5 170667962 170667962 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:170667962C>T uc003mba.3 + 22 2595 c.2453C>T c.(2452-2454)tCa>tTa p.S818L RANBP17_uc003mbb.3_Missense_Mutation_p.S143L|RANBP17_uc003mbd.3_Missense_Mutation_p.S181L|RANBP17_uc010jjs.3_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 818 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGAGCCTCTCAAAAGATCAG 0.413000 T TRD@ ALL 78 34 0 0 0.019004 0 0 KCNB1 3745 broad.mit.edu 37 20 47990100 47990100 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:47990100G>A uc002xur.1 - 1 2163 c.1997C>T c.(1996-1998)cCt>cTt p.P666L KCNB1_uc002xus.1_Missense_Mutation_p.P666L NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 666 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGCTTCAAAGGGTTGTTAGT 0.547000 81 23 0 0 0.018920 0 0 SLFN13 146857 broad.mit.edu 37 17 33771717 33771717 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33771717G>A uc002hjk.1 - 0 1313 c.983C>T c.(982-984)cCc>cTc p.P328L SLFN13_uc010wch.1_Missense_Mutation_p.P328L|SLFN13_uc002hjl.2_Missense_Mutation_p.P328L|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Missense_Mutation_p.P10L NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 328 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCATGACTTGGGAGCTTCCGA 0.468000 64 28 0 0 0.007291 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323276A>T uc002ktd.1 - 2 c.183T>A Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. ATCAACTGCAATTGCATTTGC 0.308000 10 3 0 0 0.003080 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763161 145763161 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:145763161G>A uc003zds.1 - 7 3113 c.2558C>T c.(2557-2559)aCt>aTt p.T853I ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zdt.1_Intron NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTTCTTCTTAGTGTTTCTTTC 0.552000 81 24 0 0 0.005443 0 0 PDCD4 27250 broad.mit.edu 37 10 112642835 112642835 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:112642835C>T uc001kzh.3 + 3 707 c.421C>T c.(421-423)Cct>Tct p.P141S PDCD4_uc001kzg.3_Missense_Mutation_p.P130S|PDCD4_uc010qre.2_Missense_Mutation_p.P127S NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA. 141 apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent cytosol|nucleus RNA binding|protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTGAAAGATCCTAACTATGA 0.383000 30 27 0 0 0.006320 0 0 GPR179 440435 broad.mit.edu 37 17 36483885 36483885 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:36483885C>T uc002hpz.3 - 10 5588 c.5567G>A c.(5566-5568)gGa>gAa p.G1856E NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 1856 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TACGTCTTCTCCCAGGGAAGT 0.498000 102 45 0 0 0.014410 0 0 KIAA0319 9856 broad.mit.edu 37 6 24556956 24556956 + Splice_Site SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:24556956A>G uc011djo.2 - 18 3235 c.2735_splice c.e18-1 p.G912_splice KIAA0319_uc011djp.2_Splice_Site_p.G867_splice|KIAA0319_uc003neh.1_Splice_Site_p.G912_splice|KIAA0319_uc011djq.1_Splice_Site_p.G903_splice|KIAA0319_uc011djr.1_Splice_Site_p.G912_splice|KIAA0319_uc010jpt.1_Splice_Site_p.G323_splice NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 912 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TCAGAAGGCAACCTGCAAAGA 0.478000 45 8 0 0 0.004482 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454656 234454656 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:234454656G>A uc001hvy.1 + 5 1259 c.1114G>A c.(1114-1116)Gga>Aga p.G372R SLC35F3_uc001hwa.1_Missense_Mutation_p.G303R NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 303 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CATTCCATGGGGAAACCTTTG 0.423000 143 87 0 0 0.014410 0 0 SDK2 54549 broad.mit.edu 37 17 71433893 71433893 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:71433893G>A uc010dfm.3 - 7 985 c.985C>T c.(985-987)Ccc>Tcc p.P329S SDK2_uc010dfn.2_Missense_Mutation_p.P8S NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 329 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCCTGACAGGGGATGTCCACC 0.557000 89 20 0 0 0.014323 0 0 VAV1 7409 broad.mit.edu 37 19 6854012 6854012 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:6854012G>A uc002mfu.1 + 25 2484 c.2387G>A c.(2386-2388)cGa>cAa p.R796Q VAV1_uc010xjh.1_Missense_Mutation_p.R764Q|VAV1_uc010dva.1_Missense_Mutation_p.R774Q|VAV1_uc002mfv.1_Missense_Mutation_p.R741Q NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 796 SH3 2. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity p.A795T(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TTCTGCGCCCGAGACCGATCA 0.547000 102 30 0 0 0.010818 0 0 ESR2 2100 broad.mit.edu 37 14 64749369 64749369 + Missense_Mutation SNP G A A rs141516067 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:64749369G>A uc001xha.1 - 1 803 c.335C>T c.(334-336)tCg>tTg p.S112L ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L NM_001437 NP_001428 Q92731 ESR2_HUMAN Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. 112 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GTGTTCTAGCGATCTTGCTTC 0.448000 26 24 0 0 0.018920 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166750 180166750 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:180166750G>A uc003mmf.1 - 0 309 c.309C>T c.(307-309)atC>atT p.I103I NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCTAGGTAGATGAAGAGCT 0.602000 29 12 0 0 0.013537 0 0 GCM1 8521 broad.mit.edu 37 6 52993247 52993247 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:52993247C>T uc003pbp.3 - 5 1277 c.1068G>A c.(1066-1068)tgG>tgA p.W356* NM_003643 NP_003634 Q9NP62 GCM1_HUMAN Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA. 356 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CTGGATTTGGCCATAATGGGG 0.488000 71 29 0 0 0.012213 0 0 AHCYL2 23382 broad.mit.edu 37 7 129064971 129064971 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:129064971C>T uc011kov.2 + 14 1760 c.1697C>T c.(1696-1698)cCc>cTc p.P566L AHCYL2_uc003vot.3_Missense_Mutation_p.P565L|AHCYL2_uc003vov.3_Missense_Mutation_p.P463L|AHCYL2_uc011kox.2_Missense_Mutation_p.P463L NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA. 566 one-carbon metabolic process adenosylhomocysteinase activity p.P566H(2)|p.P463H(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TACCTGTTGCCCAAGAAGATG 0.448000 43 24 0 0 0.016522 0 0 NXF3 56000 broad.mit.edu 37 X 102334395 102334395 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:102334395C>T uc004eju.3 - 14 1298 c.1227G>A c.(1225-1227)cgG>cgA p.R409R NXF3_uc010noi.1_Silent_p.R259R NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 409 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GCAGCTCCCCCCGAAGGTCTG 0.542000 50 41 0 0 0.006999 0 0 MEGF8 1954 broad.mit.edu 37 19 42860510 42860510 + Missense_Mutation SNP C A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42860510C>A uc002otl.4 + 24 4961 c.4326C>A c.(4324-4326)caC>caA p.H1442Q MEGF8_uc002otm.4_Missense_Mutation_p.H1050Q NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 1509 EGF-like 4. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCTTCCTGCACCGCCTGGGCC 0.652000 23 10 7.03913e-09 7.17163e-09 0.013537 1 0 IGSF10 285313 broad.mit.edu 37 3 151164524 151164524 + Missense_Mutation SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:151164524G>C uc011bod.2 - 3 3245 c.3245C>G c.(3244-3246)cCa>cGa p.P1082R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 1082 cell differentiation|multicellular organismal development|ossification extracellular region p.P1082R(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAGCACTTGGAAAAGACAA 0.488000 77 35 0 0 0.017118 0 0 HPR 3250 broad.mit.edu 37 16 72107798 72107798 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:72107798G>A uc002fby.3 + 1 43 c.13G>A c.(13-15)Gga>Aga p.G5R TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN Homo sapiens haptoglobin-related protein (HPR), mRNA. 5 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity p.L4L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CAGTGACCTGGGAGCTGTCAT 0.512000 100 34 0 0 0.007835 0 0 C1orf114 57821 broad.mit.edu 37 1 169390915 169390915 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:169390915G>A uc001gga.1 - 2 922 c.754C>T c.(754-756)Cct>Tct p.P252S C1orf114_uc001gfz.1_Missense_Mutation_p.P252S|C1orf114_uc009wvq.1_Missense_Mutation_p.P252S|C1orf114_uc001ggb.3_Missense_Mutation_p.P252S|C1orf114_uc001ggc.1_Missense_Mutation_p.P252S NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 252 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) AACTGCTGAGGGTCATTTTCT 0.418000 66 52 0 0 0.014410 0 0 FAM47B 170062 broad.mit.edu 37 X 34961104 34961104 + Silent SNP G A A rs79825675 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:34961104G>A uc004ddi.2 + 0 192 c.156G>A c.(154-156)acG>acA p.T52T NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 52 p.T52T(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TATTTGTGACGGAGGGCATGG 0.552000 28 14 0 0 0.004007 0 0 ZNF569 148266 broad.mit.edu 37 19 37904182 37904182 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:37904182G>A uc002ogj.3 - 8 2382 c.1450C>T c.(1450-1452)Cat>Tat p.H484Y ZNF569_uc002ogh.3_Missense_Mutation_p.H301Y|ZNF569_uc002ogi.3_Missense_Mutation_p.H460Y NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCCCAGTATGAATTCTCTGG 0.358000 27 12 0 0 0.010729 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150440017 150440017 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150440017G>A uc022apw.1 + 5 1542 c.1402G>A c.(1402-1404)Gag>Aag p.E468K GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E264K NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GAGGGAGAACGAGAGTAACTG 0.473000 37 18 0 0 0.010504 0 0 FAM5C 339479 broad.mit.edu 37 1 190424010 190424010 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:190424010C>T uc001gse.1 - 1 243 c.11G>A c.(10-12)cGa>cAa p.R4Q FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 4 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCTCTGCTTCGCCATATCAT 0.463000 29 20 0 0 0.014323 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129946 35129947 + Nonsense_Mutation DNP AC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:35129946_35129947AC>TT uc003teq.1 - 20 2345_2346 c.1238_1239GT>AA c.(1237-1239)tgt>tAA p.C413* DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. TTCTCACAACACACCATGCCTC 0.322000 102 33 0 0 0.004672 0 0 OR9K2 441639 broad.mit.edu 37 12 55524101 55524101 + Silent SNP T A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:55524101T>A uc010spe.2 + 0 549 c.549T>A c.(547-549)atT>atA p.I183I NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 GCTCAGTTATTCAGACTAGCA 0.453000 35 36 0 0 0.019004 0 0 FAM83C 128876 broad.mit.edu 37 20 33875226 33875226 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:33875226G>A uc021wck.1 - 3 1474 c.1356C>T c.(1354-1356)ctC>ctT p.L452L EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L107L NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 452 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGAACTGGAGGAGGGGCCGGG 0.642000 24 20 0 0 0.012319 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161734 57161734 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57161734C>T uc001cyk.4 + 5 761 c.690C>T c.(688-690)gtC>gtT p.V230V NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 230 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GAGGGGGTGTCTTTTATATCC 0.448000 197 86 0 0 0.014410 0 0 POTEC 388468 broad.mit.edu 37 18 14543062 14543062 + Silent SNP A G G rs45469106 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:14543062A>G uc010dln.3 - 0 538 c.84T>C c.(82-84)ttT>ttC p.F28F POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 28 F -> C (in dbSNP:rs45626231). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGCGGTGGTGAAACCACTTGC 0.547000 115 5 0 0 0.006214 0 0 FLNB 2317 broad.mit.edu 37 3 58139289 58139289 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:58139289G>A uc003djj.2 + 38 6720 c.6555G>A c.(6553-6555)gtG>gtA p.V2185V FLNB_uc010hne.2_Silent_p.V2216V|FLNB_uc003djk.2_Silent_p.V2174V|FLNB_uc010hnf.2_Silent_p.V2161V|FLNB_uc003djl.2_Silent_p.V2005V|FLNB_uc003djm.2_Silent_p.V1992V|FLNB_uc010hng.1_Non-coding_Transcript NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2185 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGTTCACCGTGGGGCCACTTG 0.662000 28 28 0 0 0.005443 0 0 UNC80 285175 broad.mit.edu 37 2 210658531 210658531 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:210658531G>A uc010zjc.1 + 6 966 c.886G>A c.(886-888)Gat>Aat p.D296N UNC80_uc021vvx.1_Missense_Mutation_p.D296N|UNC80_uc002vdj.1_Missense_Mutation_p.D296N NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA. 296 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 AAACTCCTTTGATGGAAGTCT 0.493000 28 21 0 0 0.010504 0 0 FBXO18 84893 broad.mit.edu 37 10 5948180 5948180 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:5948180C>T uc001iit.3 + 3 595 c.491C>T c.(490-492)tCa>tTa p.S164L FBXO18_uc001iir.3_Missense_Mutation_p.S39L|FBXO18_uc001iis.3_Missense_Mutation_p.S113L|FBXO18_uc009xig.3_Missense_Mutation_p.S39L NM_032807 NP_835363 Q8NFZ0 FBX18_HUMAN Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA. 113 F-box. DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GGGCCGGGCTCACCAGGGTCT 0.602000 36 20 0 0 0.012319 0 0 OR13C5 138799 broad.mit.edu 37 9 107360783 107360783 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:107360783C>T uc011lvp.2 - 0 912 c.912G>A c.(910-912)aaG>aaA p.K304K NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TTACTGCCTCCTTCACATCCT 0.333000 42 15 0 0 0.003163 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 51 17 0 0 0.004007 0 0 SMURF2 64750 broad.mit.edu 37 17 62553739 62553739 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62553739G>A uc002jep.1 - 12 1806 c.1418C>T c.(1417-1419)tCt>tTt p.S473F SMURF2_uc002jeq.1_Missense_Mutation_p.S232F|SMURF2_uc002jer.1_Missense_Mutation_p.S232F NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA. 473 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex SMAD binding|identical protein binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ATTAACTGCAGAATCAGGATT 0.308000 60 30 0 0 0.009535 0 0 NLRP3 114548 broad.mit.edu 37 1 247587738 247587738 + Silent SNP C T T rs104895401 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:247587738C>T uc001icr.3 + 4 1131 c.993C>T c.(991-993)ctC>ctT p.L331L NLRP3_uc001ics.3_Silent_p.L331L|NLRP3_uc001icu.3_Silent_p.L331L|NLRP3_uc001icw.3_Silent_p.L331L|NLRP3_uc001icv.3_Silent_p.L331L|NLRP3_uc010pyw.2_Silent_p.L329L|NLRP3_uc001ict.1_Silent_p.L329L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 331 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L331L(2) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGACATTCTCCTGAGCAGCC 0.582000 102 30 0 0 0.007291 0 0 NLRP12 91662 broad.mit.edu 37 19 54327215 54327215 + Silent SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:54327215A>G uc002qcj.4 - 0 434 c.214T>C c.(214-216)Ttg>Ctg p.L72L NLRP12_uc002qch.4_Silent_p.L72L|NLRP12_uc002qci.4_Silent_p.L72L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L72L NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 72 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGAGAGCCAACCTCCAGGCC 0.617000 100 54 0 0 0.014410 0 0 NT5C1A 84618 broad.mit.edu 37 1 40126934 40126934 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:40126934C>T uc001cdq.1 - 5 557 c.557_splice c.e5-1 p.G186_splice NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA. 186 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCTGCGATCCCTAGGCAGA 0.607000 25 9 0 0 0.006214 0 0 GPA33 10223 broad.mit.edu 37 1 167059496 167059496 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:167059496C>T uc001gea.1 - 0 373 c.29G>A c.(28-30)tGg>tAg p.W10* NM_005814 NP_005805 Q99795 GPA33_HUMAN Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA. 10 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACAGAGTGTCCACAACACAGG 0.572000 43 18 0 0 0.016522 0 0 CCDC164 92749 broad.mit.edu 37 2 26677552 26677552 + Missense_Mutation SNP C T T rs139106371 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:26677552C>T uc002rhg.2 + 14 2031 c.1957C>T c.(1957-1959)Cgt>Tgt p.R653C NM_145038 NP_659475 Q96MC2 CC164_HUMAN Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA. 653 cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1) 35 GAAGAATGTGCGTGACAACTC 0.587000 84 6 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9084779 9084779 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9084779C>T uc002mkp.3 - 0 7240 c.7036G>A c.(7036-7038)Gaa>Aaa p.E2346K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2346 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGTAGTTTCATTATCCAGT 0.463000 23 12 0 0 0.016723 0 0 CLTCL1 8218 broad.mit.edu 37 22 19184075 19184075 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:19184075G>A uc021wle.1 - 24 4041 c.3966C>T c.(3964-3966)atC>atT p.I1322I CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.I1322I|CLTCL1_uc011agw.1_Silent_p.I1301I|CLTCL1_uc011agt.2_Silent_p.I113I|CLTCL1_uc011agu.2_Silent_p.I113I|CLTCL1_uc010grm.1_Silent_p.I82I|CLTCL1_uc002zpd.1_Silent_p.I229I|CLTCL1_uc002zpe.2_3'UTR NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1322 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TGGAGTAGAGGATGGCCAGCT 0.557000 T ? ALCL 14 8 0 0 0.004482 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300123 23300123 + RNA SNP T G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:23300123T>G uc001yvq.2 - 3 c.1382A>C HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA. CTTCAAATCCTGGGCTCGAAG 0.617000 15 5 0 0 0.001168 0 0 MYPN 84665 broad.mit.edu 37 10 69926172 69926172 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:69926172C>T uc001jnm.4 + 10 1907 c.1722C>T c.(1720-1722)ccC>ccT p.P574P MYPN_uc001jnl.1_Silent_p.P574P|MYPN_uc001jnn.4_Silent_p.P299P|MYPN_uc001jno.4_Silent_p.P574P|MYPN_uc009xps.3_Silent_p.P574P|MYPN_uc009xpt.3_Silent_p.P574P|MYPN_uc010qit.2_Silent_p.P280P|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 574 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AACAACCCCCCAAACCCAAAC 0.577000 17 12 0 0 0.013537 0 0 PXDNL 137902 broad.mit.edu 37 8 52387578 52387578 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:52387578G>A uc003xqu.4 - 6 749 c.648C>T c.(646-648)ctC>ctT p.L216L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 216 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACGCCCATGGAGTCTCCTGG 0.483000 10 5 0 0 0.014758 0 0 CD163L1 283316 broad.mit.edu 37 12 7528442 7528442 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:7528442C>T uc010sge.2 - 9 2596 c.2570G>A c.(2569-2571)gGa>gAa p.G857E CD163L1_uc001qsy.3_Missense_Mutation_p.G847E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 847 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.G847V(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAAGTGATCTCCCACAGAAAG 0.463000 84 21 0 0 0.014323 0 0 PHKA2 5256 broad.mit.edu 37 X 18936813 18936813 + Missense_Mutation SNP C A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:18936813C>A uc004cyv.4 - 18 2553 c.2123G>T c.(2122-2124)gGt>gTt p.G708V NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 708 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) AACTTCCAAACCCTTTGCTTT 0.403000 23 21 2.98393e-07 3.02941e-07 0.016522 1 0 ALPK3 57538 broad.mit.edu 37 15 85383474 85383474 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:85383474G>A uc002ble.3 + 4 1737 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 524 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GAAAGATGAGGAATCCAAGCA 0.552000 50 19 0 0 0.007413 0 0 PRR23B 389151 broad.mit.edu 37 3 138738775 138738775 + Silent SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:138738775A>T uc003esy.1 - 0 994 c.729T>A c.(727-729)ggT>ggA p.G243G NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 243 Pro-rich. p.G243S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCGTGGGGACCTGGACTCC 0.657000 27 12 0 0 0.020292 0 0 ANXA3 306 broad.mit.edu 37 4 79507487 79507487 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:79507487C>T uc003hld.3 + 5 696 c.386C>T c.(385-387)tCt>tTt p.S129F NM_005139 NP_005130 P12429 ANXA3_HUMAN Homo sapiens annexin A3 (ANXA3), mRNA. 129 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AAGGATATCTCTCAAGCCTAT 0.383000 38 12 0 0 0.016723 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375832 93375832 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:93375832G>A uc022bjs.1 - 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F DIRAS2_uc004aqx.1_Missense_Mutation_p.S93F NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA. 93 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTCCTCCAAGGACTGTCGGCT 0.582000 83 33 0 0 0.010818 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436926 72436926 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72436926C>T uc002jkp.3 + 1 1657 c.1146C>T c.(1144-1146)ttC>ttT p.F382F GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.F349F|GPRC5C_uc002jkt.3_Silent_p.F337F|GPRC5C_uc002jku.3_5'Flank NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA. 337 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 AGAGCATGTTCGTGGAGAACA 0.582000 42 24 0 0 0.004656 0 0 MUC16 94025 broad.mit.edu 37 19 9070263 9070263 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9070263G>A uc002mkp.3 - 2 17387 c.17183C>T c.(17182-17184)tCt>tTt p.S5728F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5730 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCATGTCCAGAAATGGAGGT 0.498000 59 30 0 0 0.007291 0 0 POU5F1P3 642559 broad.mit.edu 37 12 8287126 8287126 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:8287126C>T uc010sgi.2 - 0 323 c.322G>A c.(322-324)Gat>Aat p.D108N CLEC4A_uc001qtz.1_Intron|CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron|POU5F1P3_uc010sgj.1_Non-coding_Transcript Homo sapiens POU class 5 homeobox 1 pseudogene 3 (POU5F1P3), non-coding RNA. GAGGCCCCATCGGAGTTGCTC 0.642000 17 15 0 0 0.004007 0 0 CAPN13 92291 broad.mit.edu 37 2 30954249 30954249 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:30954249G>A uc021vfn.1 - 19 1976 c.1944C>T c.(1942-1944)ctC>ctT p.L648L CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.L644L NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 648 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CATCCTTAGAGAGGTTGCGGA 0.557000 19 8 0 0 0.004482 0 0 UNC79 57578 broad.mit.edu 37 14 94173080 94173080 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:94173080C>T uc001ybv.1 + 47 7356 c.7273C>T c.(7273-7275)Cag>Tag p.Q2425* UNC79_uc001ybs.1_Nonsense_Mutation_p.Q2403* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2580 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTTCGCCTCCAGGCTATTCA 0.587000 35 23 0 0 0.021523 0 0 MUC16 94025 broad.mit.edu 37 19 8999468 8999468 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8999468C>T uc002mkp.3 - 55 40911 c.40707G>A c.(40705-40707)tgG>tgA p.W13569* MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Nonsense_Mutation_p.W386*|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13571 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTCAGCTCCCAGTATAGCT 0.577000 186 62 0 0 0.014410 0 0 CD163L1 283316 broad.mit.edu 37 12 7528513 7528513 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:7528513A>T uc010sge.2 - 9 2525 c.2499T>A c.(2497-2499)gaT>gaA p.D833E CD163L1_uc001qsy.3_Missense_Mutation_p.D823E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 823 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GAAGAGAGAAATCAGAATCAC 0.488000 76 10 0 0 0.013537 0 0 MGA 23269 broad.mit.edu 37 15 41961893 41961893 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:41961893C>T uc010ucy.2 + 1 982 c.801C>T c.(799-801)ccC>ccT p.P267P MGA_uc001zog.1_Silent_p.P267P|MGA_uc010ucz.2_Silent_p.P267P NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 267 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATAATAAGCCCCAGAGAGATG 0.428000 19 7 0 0 0.001984 0 0 C18orf34 374864 broad.mit.edu 37 18 30804860 30804860 + Missense_Mutation SNP C T T rs112779048 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:30804860C>T uc010xbr.1 - 15 1839 c.1697G>A c.(1696-1698)cGg>cAg p.R566Q C18orf34_uc010dme.1_Missense_Mutation_p.R80Q|C18orf34_uc002kxn.2_Missense_Mutation_p.R566Q|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.R566Q|C18orf34_uc002kxp.3_Missense_Mutation_p.R566Q NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 566 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 AAGCTCTTTCCGCTCAAGTGC 0.358000 44 20 0 0 0.016522 0 0 DSCAM 1826 broad.mit.edu 37 21 41414576 41414576 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:41414576G>A uc002yyq.1 - 31 5860 c.5408C>T c.(5407-5409)tCc>tTc p.S1803F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1803 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACTTTCTGTGGAGACCATGCT 0.542000 46 18 0 0 0.004990 0 0 CHAD 1101 broad.mit.edu 37 17 48546022 48546023 + Missense_Mutation DNP CT TA TA rs138853066 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:48546022_48546023CT>TA uc010dbr.3 - 0 205_206 c.152_153AG>TA c.(151-153)gag>gTA p.E51V ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.E51V|ACSF2_uc010dbt.1_Intron NM_001267 NP_001258 O15335 CHAD_HUMAN Homo sapiens chondroadherin (CHAD), mRNA. 51 LRRNT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCTTGGTCTTCTCTGACACCTT 0.624000 28 9 0 0 0.004672 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077448 79077448 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:79077448C>T uc002jzg.2 + 7 897 c.789C>T c.(787-789)tcC>tcT p.S263S BAIAP2_uc002jyz.4_Silent_p.S263S|BAIAP2_uc002jza.2_Silent_p.S263S|BAIAP2_uc002jzc.2_Silent_p.S263S|BAIAP2_uc002jzb.2_Silent_p.S20S|BAIAP2_uc010wuh.1_Silent_p.S185S|BAIAP2_uc002jzd.2_Silent_p.S263S|BAIAP2_uc002jzf.2_Silent_p.S263S|BAIAP2_uc002jze.2_Silent_p.S296S|BAIAP2_uc002jzh.2_Silent_p.S264S|BAIAP2_uc010wui.2_Silent_p.S126S NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 263 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCTCCAAGTCCAACCTGGTCA 0.697000 37 11 0 0 0.013537 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171375 207171375 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:207171375C>T uc002vbp.2 + 4 2373 c.2123C>T c.(2122-2124)tCt>tTt p.S708F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 708 nucleic acid binding|zinc ion binding p.S708C(3) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTCTGAGTTCTGATTCTCCG 0.408000 36 18 0 0 0.006122 0 0 OR51B5 282763 broad.mit.edu 37 11 5363907 5363907 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5363907G>A uc001map.1 - 0 848 c.848C>T c.(847-849)cCa>cTa p.P283L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.P283L NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCATTAGTGGAGGGAACAG 0.388000 30 10 0 0 0.010729 0 0 GDPD4 220032 broad.mit.edu 37 11 76982221 76982221 + Silent SNP G A A rs139482139 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:76982221G>A uc001oyf.3 - 5 605 c.354C>T c.(352-354)atC>atT p.I118I NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA. 118 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding p.I118I(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 GCCAGAAAAGGATAACCATCA 0.488000 48 11 0 0 0.013537 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275374 98275374 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:98275374G>A uc002syb.2 - 4 616 c.408C>T c.(406-408)gcC>gcT p.A136A NM_005735 NP_005726 P42025 ACTY_HUMAN Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA. 136 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 AGATGAACAGGGCCGGCACGT 0.617000 75 31 0 0 0.010818 0 0 IGFN1 91156 broad.mit.edu 37 1 201195161 201195161 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:201195161G>A uc001gwc.3 + 21 10826 c.10696G>A c.(10696-10698)Gaa>Aaa p.E3566K IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCCGGCCACGAATACCACTT 0.677000 40 11 0 0 0.016723 0 0 CETN1 1068 broad.mit.edu 37 18 580850 580850 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:580850G>A uc002kko.1 + 0 482 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_004066 NP_004057 Q12798 CETN1_HUMAN Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA. 148 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.E148K(2) breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GATGATCGACGAAGCTGATCG 0.537000 35 20 0 0 0.010504 0 0 RTF1 23168 broad.mit.edu 37 15 41745236 41745236 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:41745236C>T uc001zny.3 + 2 459 c.447C>T c.(445-447)gcC>gcT p.A149A NM_015138 NP_055953 Q92541 RTF1_HUMAN Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA. 149 Ser-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AGAGCTCAGCCCCTGAGGAAG 0.517000 33 13 0 0 0.016723 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756665 49756665 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:49756665G>A uc003cxj.3 - 0 574 c.234C>T c.(232-234)ccC>ccT p.P78P RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA. 78 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCAACCAGCCGGGGCGCAGGC 0.677000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 27 0 0 0.007291 0 0 PRDM1 639 broad.mit.edu 37 6 106555230 106555230 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:106555230G>A uc003prd.2 + 6 2581 c.2347G>A c.(2347-2349)Gga>Aga p.G783R PRDM1_uc003pre.3_Missense_Mutation_p.G649R NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 783 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CATGGGGAATGGACTCCTCTC 0.483000 """D, N, Mis, F, S""" DLBCL 25 24 0 0 0.014323 0 0 BOLL 66037 broad.mit.edu 37 2 198636606 198636606 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:198636606C>T uc002uuu.1 - 5 850 c.471G>A c.(469-471)gaG>gaA p.E157E BC021693_uc002uup.3_Non-coding_Transcript|BOLL_uc002uur.2_Silent_p.E157E|BOLL_uc002uus.2_Silent_p.E151E|BOLL_uc002uut.2_Silent_p.E163E|BOLL_uc010zha.1_Silent_p.E42E NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA. 151 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm RNA binding|nucleotide binding|protein binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 CCGAAGTTACCTCTGGAGTAT 0.338000 25 11 0 0 0.010729 0 0 APOB 338 broad.mit.edu 37 2 21235180 21235180 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21235180C>T uc002red.3 - 25 4688 c.4560G>A c.(4558-4560)ctG>ctA p.L1520L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1520 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGTTAAACCTCAGGTTGGACT 0.507000 340 129 0 0 0.014410 0 0 LARS 51520 broad.mit.edu 37 5 145519825 145519825 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145519825C>T uc003lnx.1 - 21 2329 c.2091_splice c.e21-1 p.S697_splice LARS_uc011dbq.1_Splice_Site_p.S651_splice|LARS_uc011dbr.1_Splice_Site_p.S643_splice|LARS_uc011dbs.1_Splice_Site_p.S670_splice NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 697 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CCATTTGTCACTTCACAGATA 0.343000 39 7 0 0 0.001984 0 0 VPS35 55737 broad.mit.edu 37 16 46708511 46708511 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:46708511C>T uc002eef.4 - 8 1075 c.976G>A c.(976-978)Gat>Aat p.D326N VPS35_uc002eed.3_Missense_Mutation_p.D147N|VPS35_uc002eee.3_Missense_Mutation_p.D287N NM_018206 NP_060676 Q96QK1 VPS35_HUMAN Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA. 326 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GAAAATATATCAAAAAGTTTA 0.348000 16 4 0 0 0.001168 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:79650840C>T uc002kbf.3 - 0 115 c.16G>A c.(16-18)Ggg>Agg p.G6R ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA. 6 GTP binding p.G6R(2) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 24 11 0 0 0.013537 0 0 FOLH1 2346 broad.mit.edu 37 11 49227623 49227623 + Silent SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49227623A>G uc001ngy.3 - 1 481 c.220T>C c.(220-222)Tta>Cta p.L74L FOLH1_uc009yly.3_Silent_p.L59L|FOLH1_uc009ylz.3_Silent_p.L59L|FOLH1_uc001ngz.3_Silent_p.L74L|FOLH1_uc009yma.3_5'UTR|FOLH1_uc001nha.3_Silent_p.L59L NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 74 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACTTACTATAAGAACTTCTTG 0.299000 47 23 0 0 0.018920 0 0 PUS7 54517 broad.mit.edu 37 7 105148566 105148566 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:105148566C>T uc010lji.3 - 0 402 c.394G>A c.(394-396)Gaa>Aaa p.E132K PUS7_uc003vcx.3_Missense_Mutation_p.E132K|PUS7_uc003vcy.3_Missense_Mutation_p.E132K|PUS7_uc003vcz.1_Missense_Mutation_p.E132K NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA. 132 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ATGTACCTTTCTTTTAAGATT 0.358000 36 12 0 0 0.010729 0 0 MDGA1 266727 broad.mit.edu 37 6 37631751 37631751 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:37631751G>A uc003onu.1 - 1 1378 c.199C>T c.(199-201)Cga>Tga p.R67* NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 67 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.R67R(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCTGGGGTCGAGGGTGCCCT 0.602000 56 10 0 0 0.010729 0 0 SNX20 124460 broad.mit.edu 37 16 50709816 50709816 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:50709816C>T uc002egk.2 - 2 320 c.147G>A c.(145-147)ctG>ctA p.L49L SNX20_uc010vgp.1_Silent_p.L49L|SNX20_uc002egi.3_Silent_p.L49L|SNX20_uc021thz.1_Non-coding_Transcript NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 49 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 AGTTGGAGCTCAGGCCACTGT 0.562000 64 25 0 0 0.005443 0 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5080058C>T uc010qyw.2 - 0 800 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478000 49 16 0 0 0.004990 0 0 ZNF679 168417 broad.mit.edu 37 7 63720636 63720636 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:63720636C>T uc003tsx.3 + 2 346 c.77C>T c.(76-78)tCt>tTt p.S26F NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F25L(1) endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATAGAATTCTCTCTGGAGGAG 0.418000 51 25 0 0 0.016522 0 0 MAU2 23383 broad.mit.edu 37 19 19466529 19466529 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:19466529C>T uc002nmk.4 + 18 1819 c.1780C>T c.(1780-1782)Cca>Tca p.P594S MAU2_uc002nml.4_Missense_Mutation_p.P199S|MAU2_uc010ecd.3_Missense_Mutation_p.P199S|MAU2_uc010ece.3_Missense_Mutation_p.P170S NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 594 cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 GACAGACGGTCCACCCCCCGT 0.637000 66 30 0 0 0.010818 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573874 18573874 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:18573874G>A uc001rdt.3 + 16 2309 c.2193_splice c.e16-1 p.S731_splice PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.S772_splice|PIK3C2G_uc010sic.2_Splice_Site_p.S550_splice NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 731 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTGTGTATTAGTTTTCCAGAT 0.373000 41 27 0 0 0.009535 0 0 TPO 7173 broad.mit.edu 37 2 1520688 1520688 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:1520688C>T uc002qwr.3 + 14 2638 c.2552C>T c.(2551-2553)tCc>tTc p.S851F TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S851F|TPO_uc002qwx.3_Missense_Mutation_p.S794F|TPO_uc002qwu.3_Missense_Mutation_p.S794F|TPO_uc010yio.2_Missense_Mutation_p.S678F|TPO_uc010yip.2_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 851 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.S851F(2) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACTTGGATCTCCATGTCGCTG 0.572000 38 20 0 0 0.012319 0 0 ATP8B4 79895 broad.mit.edu 37 15 50254215 50254215 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:50254215C>T uc001zxu.3 - 13 1388 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K ATP8B4_uc010ber.3_Missense_Mutation_p.E289K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E289K|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 416 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 breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCATGTACTTCACCTGACAAA 0.269000 19 8 0 0 0.006214 0 0 PEG10 23089 broad.mit.edu 37 7 94293524 94293524 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:94293524C>T uc003uno.3 + 1 1135 c.656C>T c.(655-657)tCc>tTc p.S219F PEG10_uc011kie.2_Missense_Mutation_p.S295F|PEG10_uc022ahn.1_Missense_Mutation_p.S219F NM_015068 NP_055883 Q86TG7 PEG10_HUMAN Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA. 219 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAGGAGCTCTCCCACCTCGAG 0.592000 76 35 0 0 0.006230 0 0 MFSD1 64747 broad.mit.edu 37 3 158539803 158539803 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:158539803C>T uc003fcl.2 + 10 1178 c.1098C>T c.(1096-1098)tcC>tcT p.S366S MFSD1_uc011bow.2_Silent_p.S327S|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Silent_p.S220S NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA. 317 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTCCCATGTCCCCGGTGTTTG 0.458000 41 23 0 0 0.021523 0 0 ILF3 3609 broad.mit.edu 37 19 10790583 10790583 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:10790583C>T uc002mpn.3 + 7 1156 c.839C>T c.(838-840)gCg>gTg p.A280V ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.A280V|ILF3_uc002mpl.2_Missense_Mutation_p.A280V|ILF3_uc002mpk.2_Missense_Mutation_p.A280V|ILF3_uc002mpo.3_Missense_Mutation_p.A280V|ILF3_uc002mpp.3_Missense_Mutation_p.A101V NM_012218 NP_036350 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA. 280 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GAGTGCCTGGCGTCGGGCATC 0.627000 29 16 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13766229 13766229 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13766229G>A uc003jfd.2 - 58 9999 c.9957C>T c.(9955-9957)atC>atT p.I3319I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3319 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TGATCCGCATGATGAGGTGAG 0.532000 Kartagener syndrome 110 39 0 0 0.013114 0 0 ATP4A 495 broad.mit.edu 37 19 36051759 36051759 + Missense_Mutation SNP T G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:36051759T>G uc002oal.1 - 4 525 c.496A>C c.(496-498)Acc>Ccc p.T166P NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 166 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ATGATGTTGGTGCTCTTGAAT 0.567000 84 47 0 0 0.014410 0 0 SAV1 60485 broad.mit.edu 37 14 51132229 51132229 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:51132229G>A uc001wyh.1 - 1 541 c.203C>T c.(202-204)tCa>tTa p.S68L SAV1_uc021rsy.1_Non-coding_Transcript NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA. 68 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) CTGGTTTCTTGAAACTACATC 0.403000 21 6 0 0 0.001984 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43837663 43837663 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:43837663G>A uc010skx.2 - 15 2221 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 741 Spacer. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCTCCTGCGGGAATCTTTACA 0.373000 61 33 0 0 0.021022 0 0 EPPK1 83481 broad.mit.edu 37 8 144942134 144942134 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144942134C>T uc003zaa.1 - 0 5301 c.5288G>A c.(5287-5289)gGa>gAa p.G1763E NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1763 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGTTTTCTCCTTTCTTTAT 0.537000 42 16 0 0 0.008871 0 0 THEMIS 387357 broad.mit.edu 37 6 128134112 128134112 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:128134112C>T uc011ebt.2 - 3 1823 c.1674G>A c.(1672-1674)ccG>ccA p.P558P THEMIS_uc010kfa.3_Silent_p.P461P|THEMIS_uc021zfa.1_Silent_p.P558P|THEMIS_uc010kfb.3_Silent_p.P523P NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 558 T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGGGGTGTTTCGGAGGGCGAG 0.483000 36 41 0 0 0.006999 0 0 TBC1D17 79735 broad.mit.edu 37 19 50390828 50390828 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:50390828G>A uc002pqo.3 + 13 1839 c.1540G>A c.(1540-1542)Gag>Aag p.E514K TBC1D17_uc010ybg.2_Missense_Mutation_p.E481K|TBC1D17_uc002pqp.3_Missense_Mutation_p.E165K|TBC1D17_uc002pqr.3_Missense_Mutation_p.E165K|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR|MIR4750_uc021uxz.1_5'Flank NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 514 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCGGCTGTGGGAGGTGGGCCA 0.647000 28 13 0 0 0.020292 0 0 FCRL4 83417 broad.mit.edu 37 1 157556241 157556241 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:157556241G>A uc001fqw.3 - 5 988 c.852C>T c.(850-852)atC>atT p.I284I FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 284 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CAGACACAGGGATCCCTATGT 0.602000 55 43 0 0 0.010771 0 0 MRPL32 64983 broad.mit.edu 37 7 42977019 42977019 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:42977019C>T uc003tia.3 + 2 458 c.411C>T c.(409-411)atC>atT p.I137I MRPL32_uc003tib.3_Non-coding_Transcript NM_031903 NP_114109 Q9BYC8 RM32_HUMAN Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA. 137 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 CTGCAGAAATCAGACGACAGA 0.488000 25 13 0 0 0.013537 0 0 PAQR3 152559 broad.mit.edu 37 4 79851443 79851443 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:79851443A>T uc003hlp.1 - 2 589 c.385T>A c.(385-387)Tcc>Acc p.S129T PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.S11T NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA. 129 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 CGATGGCAGGAAAAAAGATGA 0.358000 46 13 0 0 0.004990 0 0 CR1 1378 broad.mit.edu 37 1 207789995 207789995 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:207789995G>A uc001hfy.3 + 32 5527 c.5387G>A c.(5386-5388)gGa>gAa p.G1796E CR1_uc001hfx.3_Missense_Mutation_p.G2246E|CR1_uc021pij.1_Missense_Mutation_p.G1796E NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1796 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATTCCCTATGGAAAAGAAATA 0.468000 138 78 0 0 0.014410 0 0 ANAPC1 64682 broad.mit.edu 37 2 112621364 112621364 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:112621364G>A uc002thi.3 - 8 1187 c.940C>T c.(940-942)Cct>Tct p.P314S NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 314 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.P314L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GAAGTCACAGGGGAATCTCCT 0.493000 32 11 0 0 0.013537 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708999 96708999 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:96708999C>T uc001kka.4 + 4 802 c.777C>T c.(775-777)aaC>aaT p.N259N CYP2C9_uc009xut.3_Silent_p.N259N NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 259 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ACATGAACAACCCTCAGGACT 0.333000 21 14 0 0 0.003163 0 0 OR51F2 119694 broad.mit.edu 37 11 4842792 4842792 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4842792C>T uc010qyn.2 + 0 177 c.177C>T c.(175-177)atC>atT p.I59I NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I59N(1) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCATGATCCTGTTTGTGG 0.488000 127 62 0 0 0.014410 0 0 ADD1 118 broad.mit.edu 37 4 2896428 2896428 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:2896428C>T uc003gfq.3 + 5 899 c.711C>T c.(709-711)gtC>gtT p.V237V ADD1_uc010ico.1_Silent_p.V237V|ADD1_uc003gfo.3_Silent_p.V237V|ADD1_uc003gfp.3_Silent_p.V237V|ADD1_uc003gfr.3_Silent_p.V237V|ADD1_uc003gfs.3_Silent_p.V237V|ADD1_uc003gft.3_Silent_p.V237V|ADD1_uc003gfu.3_5'UTR NM_014189 NP_054908 P35611 ADDA_HUMAN Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA. 237 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding F-actin capping protein complex|cytosol|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding p.V237I(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAAGTGCGTCGTGCACATTC 0.547000 24 7 0 0 0.001984 0 0 LFNG 3955 broad.mit.edu 37 7 2565122 2565122 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:2565122A>T uc003smf.3 + 3 673 c.656A>T c.(655-657)cAc>cTc p.H219L LFNG_uc021zyw.1_Missense_Mutation_p.H148L|LFNG_uc021zyx.1_Missense_Mutation_p.H90L|LFNG_uc003smg.3_Missense_Mutation_p.H219L|MIR4648_uc021zyy.1_5'Flank NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. 219 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) AGCTACCCGCACACGCGGGAC 0.672000 25 10 0 0 0.013537 0 0 NCOA6 23054 broad.mit.edu 37 20 33329993 33329993 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:33329993A>G uc002xav.3 - 11 6638 c.4067T>C c.(4066-4068)cTg>cCg p.L1356P NCOA6_uc002xaw.3_Missense_Mutation_p.L1356P|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.L1356P|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1356 DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGAGAGGCCAGAGTAAGTTT 0.537000 50 56 0 0 0.014410 0 0 C1orf168 199920 broad.mit.edu 37 1 57257889 57257889 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57257889G>A uc001cym.4 - 1 1003 c.597C>T c.(595-597)caC>caT p.H199H C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.H199H NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 199 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGGCCACCACGTGCTTCTGGG 0.478000 102 42 0 0 0.011902 0 0 IKBKE 9641 broad.mit.edu 37 1 206658624 206658624 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:206658624C>T uc001hdz.2 + 14 2175 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* IKBKE_uc001hea.2_Nonsense_Mutation_p.Q448*|IKBKE_uc009xbv.2_Nonsense_Mutation_p.Q533* NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 533 DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GAGCCGGGATCAGGTACATGA 0.567000 56 10 0 0 0.016723 0 0 FIGN 55137 broad.mit.edu 37 2 164466641 164466641 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:164466641G>A uc002uck.1 - 2 2012 c.1701C>T c.(1699-1701)atC>atT p.I567I NM_018086 NP_060556 Q5HY92 FIGN_HUMAN Homo sapiens fidgetin (FIGN), mRNA. 567 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAGAGGCATGGATAATTTTCT 0.478000 36 11 0 0 0.010729 0 0 ODZ1 10178 broad.mit.edu 37 X 123517662 123517662 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:123517662G>A uc010nqy.3 - 29 7183 c.7119C>T c.(7117-7119)ttC>ttT p.F2373F ODZ1_uc011muj.2_Silent_p.F2372F|ODZ1_uc004euj.3_Silent_p.F2366F NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2366 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 ATTTAGTAAGGAAATCATAGA 0.408000 30 27 0 0 0.006320 0 0 FBN3 84467 broad.mit.edu 37 19 8206852 8206852 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8206852G>A uc002mjf.3 - 5 728 c.711C>T c.(709-711)atC>atT p.I237I NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 237 TB 1. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGATATTGGGGATGAAGCCGC 0.627000 36 20 0 0 0.014323 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104512202 104512202 + Silent SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:104512202A>T uc004elz.1 + 4 1431 c.675A>T c.(673-675)cgA>cgT p.R225R NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 225 Ig-like C2-type 2. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGTAAGACGAACAACTGAAT 0.328000 22 11 0 0 0.008291 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170939 207170939 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:207170939C>T uc002vbp.2 + 4 1937 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 563 nucleic acid binding|zinc ion binding p.R563W(3) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACAAAACTTCGGAAGAAGGC 0.438000 24 12 0 0 0.013537 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398197 77398197 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:77398197C>T uc002ffc.4 - 4 1279 c.860G>A c.(859-861)gGa>gAa p.G287E ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 287 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G287E(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTGTGATTTTCCAGCTGATCT 0.488000 55 28 0 0 0.008361 0 0 MYO16 23026 broad.mit.edu 37 13 109707473 109707473 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:109707473G>A uc010agk.2 + 26 3751 c.3129_splice c.e26+1 p.R1043_splice MYO16_uc001vqt.1_Splice_Site_p.R1021_splice|MYO16_uc001vqu.1_Splice_Site_p.R821_splice|MYO16_uc010tjh.1_Splice_Site_p.R533_splice NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1021 Myosin head-like 2. cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCACAACTCAGGGTTAGTGAC 0.303000 29 17 0 0 0.008871 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768199 77768199 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:77768199G>A uc003yau.2 + 9 9429 c.9042G>A c.(9040-9042)gtG>gtA p.V3014V ZFHX4_uc003yaw.1_Silent_p.V2969V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2969 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCTGCGGGGTGAAGTACTCTG 0.478000 HNSCC(33;0.089) 36 12 0 0 0.016723 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228600 57228600 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:57228600C>T uc010lyk.1 - 1 945 c.307G>A c.(307-309)Gaa>Aaa p.E103K SDR16C5_uc003xsy.1_Missense_Mutation_p.E103K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E103K NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 103 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TACACTCCTTCCTTTTGGCTG 0.448000 111 25 0 0 0.007291 0 0 KCNS2 3788 broad.mit.edu 37 8 99441498 99441498 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:99441498G>A uc003yin.3 + 1 1641 c.1291G>A c.(1291-1293)Gac>Aac p.D431N KCNS2_uc022azb.1_Missense_Mutation_p.D431N NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 431 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GCGCAGCTGTGACTTTGGAGA 0.488000 86 54 0 0 0.014410 0 0 GATM 2628 broad.mit.edu 37 15 45660331 45660331 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:45660331G>A uc001zvc.3 - 3 941 c.612C>T c.(610-612)ttC>ttT p.F204F GATM_uc001zvb.3_Silent_p.F75F|GATM_uc010uev.1_Silent_p.F257F NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 204 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CGCCACGGTGGAAGTAGTCTT 0.473000 30 11 0 0 0.013537 0 0 MOV10L1 54456 broad.mit.edu 37 22 50572967 50572967 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:50572967C>T uc003bjj.3 + 14 2061 c.1978C>T c.(1978-1980)Cca>Tca p.P660S MOV10L1_uc003bjk.4_Missense_Mutation_p.P660S|MOV10L1_uc011arp.2_Missense_Mutation_p.P640S|MOV10L1_uc011arq.1_Missense_Mutation_p.P421S|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 660 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGTGTTGTTTCCAGAAGAAAT 0.368000 69 26 0 0 0.004656 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24515510 24515510 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:24515510C>T uc003nef.3 + 5 909 c.881C>T c.(880-882)tCc>tTc p.S294F ALDH5A1_uc003neg.3_Missense_Mutation_p.S281F NM_170740 NP_733936 P51649 SSDH_HUMAN Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 281 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TCCAAAATTTCCTTTACTGGT 0.358000 46 14 0 0 0.016723 0 0 ATP9A 10079 broad.mit.edu 37 20 50287714 50287714 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:50287714G>A uc002xwg.1 - 11 1120 c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C ATP9A_uc010gih.1_Missense_Mutation_p.R238C|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 374 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 breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GTGCTGGAGCGAACCACGGTC 0.552000 45 22 0 0 0.014323 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310192 57310192 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:57310192G>A uc021qjh.1 + 0 79 c.77G>A c.(76-78)gGa>gAa p.G26E NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 26 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAGATGTCAGGAGGTGGAGCC 0.582000 25 12 0 0 0.013537 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428271 54428271 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:54428271C>T uc002iun.1 + 3 377 c.342C>T c.(340-342)ttC>ttT p.F114F NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 114 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACTCTTCCTTCGATGAGGCCT 0.448000 33 24 0 0 0.005443 0 0 UNC5D 137970 broad.mit.edu 37 8 35453116 35453116 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:35453116C>T uc003xjr.2 + 3 839 c.511C>T c.(511-513)Ccc>Tcc p.P171S UNC5D_uc003xjs.2_Missense_Mutation_p.P166S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 171 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGGAAGTTCCCATTGAAGG 0.493000 97 31 0 0 0.017118 0 0 GJB4 127534 broad.mit.edu 37 1 35227260 35227260 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:35227260C>T uc001bxw.4 + 0 405 c.405C>T c.(403-405)ctC>ctT p.L135L GJB4_uc001bxv.1_Silent_p.L135L NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 135 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGCTGAGCCTCATCTTCAAGG 0.602000 34 18 0 0 0.008871 0 0 SALL1 6299 broad.mit.edu 37 16 51175273 51175273 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:51175273G>A uc021tif.1 - 1 891 c.569C>T c.(568-570)tCc>tTc p.S190F SALL1_uc021tid.1_Missense_Mutation_p.S190F|SALL1_uc021tie.1_Missense_Mutation_p.S287F|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 287 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGATAAATGGGAACTTAGCGT 0.507000 77 39 0 0 0.006230 0 0 CACNA1E 777 broad.mit.edu 37 1 181754921 181754921 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:181754921C>T uc009wxt.3 + 42 5947 c.5752C>T c.(5752-5754)Ctg>Ttg p.L1918L CACNA1E_uc001gow.3_Silent_p.L1918L|CACNA1E_uc009wxs.3_Silent_p.L1899L NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1918 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGCCAAAGCCCTGCCTTACCT 0.522000 172 145 0 0 0.014410 0 0 APLNR 187 broad.mit.edu 37 11 57004345 57004345 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:57004345C>T uc001njo.3 - 0 583 c.134G>A c.(133-135)gGc>gAc p.G45D APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 45 integral to plasma membrane G-protein coupled receptor activity p.G45G(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CAGACCGTTGCCCGTGGTGCC 0.597000 73 19 0 0 0.010504 0 0 USP29 57663 broad.mit.edu 37 19 57640569 57640569 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57640569G>A uc002qny.3 + 3 882 c.526G>A c.(526-528)Gat>Aat p.D176N USP29_uc021vci.1_Missense_Mutation_p.D176N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 176 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTATCATCTGATGTACAGAC 0.353000 57 27 0 0 0.005443 0 0 GLDC 2731 broad.mit.edu 37 9 6620207 6620207 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:6620207C>T uc003zkc.3 - 2 640 c.447G>A c.(445-447)cgG>cgA p.R149R NM_000170 NP_000161 P23378 GCSP_HUMAN Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA. 149 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCAGTAAGTTCCGCAAAATCG 0.443000 25 19 0 0 0.008871 0 0 XDH 7498 broad.mit.edu 37 2 31611135 31611135 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31611135C>T uc002rnv.1 - 6 601 c.522G>A c.(520-522)ggG>ggA p.G174G NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 174 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) TTGGATTATTCCCATCTCCTC 0.443000 64 26 0 0 0.008361 0 0 DNAH5 1767 broad.mit.edu 37 5 13781008 13781008 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13781008C>T uc003jfd.2 - 52 8923 c.8881G>A c.(8881-8883)Gga>Aga p.G2961R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2961 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) CTCTGCTTTCCTGATCCGCCC 0.468000 Kartagener syndrome 21 9 0 0 0.004482 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197305 204197305 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204197305C>T uc001hau.3 - 20 3254 c.2937G>A c.(2935-2937)caG>caA p.Q979Q NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 979 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTCTGAGTCCTGGGGCACGT 0.627000 83 20 0 0 0.014323 0 0 DSCAM 1826 broad.mit.edu 37 21 41447132 41447132 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:41447132G>A uc002yyq.1 - 26 5172 c.4720C>T c.(4720-4722)Cct>Tct p.P1574S DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1574 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGAGTGGAGGAATTGTACCT 0.502000 27 11 0 0 0.013537 0 0 COL7A1 1294 broad.mit.edu 37 3 48614163 48614163 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:48614163G>A uc003ctz.2 - 66 5647 c.5646C>T c.(5644-5646)atC>atT p.I1882I NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1882 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGTCCAAGGATACCAGGAG 0.602000 17 3 0 0 0.009096 0 0 LOC441666 441666 broad.mit.edu 37 10 42832122 42832122 + RNA SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:42832122C>T uc010qey.2 - 2 c.1853G>A Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. CAGTAAAAGGCTTTGCCACAT 0.348000 7 3 0 0 0.014758 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050753 84050753 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:84050753G>A uc002fhg.1 - 6 945 c.945C>T c.(943-945)ttC>ttT p.F315F NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA. 315 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACCTCCCCAGGAAGAGCACGA 0.567000 22 16 0 0 0.007413 0 0 CBL 867 broad.mit.edu 37 11 119103163 119103163 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:119103163G>A uc001pwe.3 + 1 339 c.201G>A c.(199-201)gtG>gtA p.V67V NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 67 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TGCAGGTGGTGCGGTTGTGTC 0.403000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 19 16 0 0 0.004990 0 0 LOC440040 440040 broad.mit.edu 37 11 49598212 49598212 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49598212T>C uc010rhy.2 + 1 803 c.325T>C c.(325-327)Tcc>Ccc p.S109P LOC440040_uc009ymb.3_Missense_Mutation_p.S109P Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TTCCTTCTGCTCCAAGAAGCC 0.493000 18 13 0 0 0.016723 0 0 DST 667 broad.mit.edu 37 6 56494203 56494203 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:56494203G>A uc003pcy.4 - 17 2817 c.2709C>T c.(2707-2709)ttC>ttT p.F903F DST_uc021zay.1_Silent_p.F1269F|DST_uc021zax.1_Silent_p.F903F|DST_uc003pdc.4_Silent_p.F903F|DST_uc003pdd.4_Silent_p.F903F NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 1229 SH3. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTAAGGCATGGAATACCTGTC 0.338000 51 14 0 0 0.003163 0 0 SOX13 9580 broad.mit.edu 37 1 204093858 204093858 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204093858C>T uc001ham.3 + 12 2060 c.1465C>T c.(1465-1467)Cct>Tct p.P489S SOX13_uc010pqp.2_Missense_Mutation_p.P488S|SOX13_uc010pqq.2_Missense_Mutation_p.P356S NM_005686 NP_005677 Q9UN79 SOX13_HUMAN Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA. 489 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GGAGAAGTATCCTGACTACAA 0.622000 34 9 0 0 0.006214 0 0 NCOR2 9612 broad.mit.edu 37 12 124826485 124826485 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:124826485G>A uc021rga.1 - 33 5210 c.5093C>T c.(5092-5094)aCc>aTc p.T1698I NCOR2_uc021rgb.1_Missense_Mutation_p.T1682I|NCOR2_uc010tbb.2_Missense_Mutation_p.T1691I|NCOR2_uc010tbc.2_Missense_Mutation_p.T1681I|NCOR2_uc021rgc.1_Missense_Mutation_p.T1681I|NCOR2_uc010tba.2_Missense_Mutation_p.T1699I|NCOR2_uc010tax.2_5'Flank NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1699 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTGCTGCGAGGTGATGTAGTC 0.647000 41 28 0 0 0.013726 0 0 CNGA2 1260 broad.mit.edu 37 X 150906982 150906982 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:150906982G>A uc004fey.1 + 1 251 c.27G>A c.(25-27)aaG>aaA p.K9K NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 9 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) ATGGTGTGAAGAGCTCCCCAG 0.517000 81 45 0 0 0.014410 0 0 FAM83F 113828 broad.mit.edu 37 22 40417711 40417711 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:40417711G>A uc003ayk.1 + 3 1291 c.1197G>A c.(1195-1197)aaG>aaA p.K399K NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 399 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGAGCCAGAAGGATGGCAGGA 0.652000 22 7 0 0 0.001984 0 0 MEGF8 1954 broad.mit.edu 37 19 42840432 42840432 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42840432C>T uc002otl.4 + 5 1813 c.1178C>T c.(1177-1179)tCc>tTc p.S393F MEGF8_uc002otm.4_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 393 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACTGGCCACTCCATGGTGTTC 0.657000 28 11 0 0 0.010729 0 0 WNK2 65268 broad.mit.edu 37 9 96031005 96031005 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:96031005C>T uc004ati.1 + 17 4010 c.4010C>T c.(4009-4011)tCc>tTc p.S1337F WNK2_uc011lud.1_Missense_Mutation_p.S1337F|WNK2_uc004atj.3_Missense_Mutation_p.S1337F|WNK2_uc004atk.3_Missense_Mutation_p.S974F NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1337 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCTCTAAGCTCCCTGCCGCCA 0.627000 22 9 0 0 0.008291 0 0 T 6862 broad.mit.edu 37 6 166571956 166571956 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:166571956G>A uc003qut.1 - 7 1444 c.1158C>T c.(1156-1158)ccC>ccT p.P386P T_uc003quu.1_Silent_p.P385P|T_uc003quv.1_Silent_p.P327P NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 385 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GATGGGTGAGGGGTGTGTAGT 0.711000 Chordoma, Familial Clustering of 28 19 0 0 0.010504 0 0 UBR4 23352 broad.mit.edu 37 1 19439325 19439325 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:19439325C>T uc001bbi.3 - 77 11498 c.11494G>A c.(11494-11496)Gac>Aac p.D3832N UBR4_uc001bbj.1_3'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3832 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGCTGTAGGTCATATTCCAAC 0.463000 211 93 0 0 0.014410 0 0 LY9 4063 broad.mit.edu 37 1 160769730 160769730 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:160769730G>A uc001fwu.3 + 1 362 c.312G>A c.(310-312)ctG>ctA p.L104L LY9_uc001fwt.3_Silent_p.L104L|LY9_uc010pjs.1_Silent_p.L104L|LY9_uc001fwv.3_Silent_p.L104L|LY9_uc001fww.3_Silent_p.L104L|LY9_uc001fwy.1_Silent_p.L6L NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 104 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AAAGCTACCTGGGCCGACTAG 0.448000 67 69 0 0 0.014410 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881295 47881295 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:47881295G>A uc002xui.3 - 4 2356 c.2109C>T c.(2107-2109)ttC>ttT p.F703F NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 703 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTTGCGGCGGAATTCCCGCT 0.522000 128 43 0 0 0.009718 0 0 MAP1A 4130 broad.mit.edu 37 15 43820842 43820842 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:43820842G>A uc001zrt.3 + 3 7638 c.7171G>A c.(7171-7173)Ggg>Agg p.G2391R NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2391 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTGGGAACGTGGGGCCTGGCC 0.667000 13 8 0 0 0.003080 0 0 ENPP7 339221 broad.mit.edu 37 17 77709387 77709387 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:77709387C>T uc002jxa.3 + 2 965 c.945C>T c.(943-945)ttC>ttT p.F315F NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. 315 negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGAGGCGTTCCCCGAGGCCT 0.607000 45 29 0 0 0.006320 0 0 LINC00207 388910 broad.mit.edu 37 22 44966445 44966445 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:44966445G>A uc011aqg.2 + 2 c.235G>A LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA. lung(3) 3 TGAACCAGAGGGGAACACCGT 0.502000 27 4 0 0 0.009096 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42373300 42373300 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:42373300C>T uc001zox.3 - 11 1084 c.989G>A c.(988-990)gGa>gAa p.G330E NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 330 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCGGGCACCTCCTCCTGTGGC 0.602000 45 21 0 0 0.010504 0 0 OR1N2 138882 broad.mit.edu 37 9 125315488 125315488 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:125315488G>A uc011lyx.2 + 0 40 c.40G>A c.(40-42)Ggg>Agg p.G14R NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G14V(1) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CGAACTACAAGGGATGGGAAA 0.453000 69 27 0 0 0.004656 0 0 GPC6 10082 broad.mit.edu 37 13 93879743 93879743 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:93879743C>T uc001vlt.3 + 0 666 c.34C>T c.(34-36)Ctc>Ttc p.L12F GPC6_uc010tig.1_Missense_Mutation_p.L12F NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 12 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GATTCTTCCCCTCTTGGGGCT 0.642000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 31 0 0 0.012213 0 0 OPALIN 93377 broad.mit.edu 37 10 98109564 98109564 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:98109564C>T uc001kmj.3 - 3 531 c.92G>A c.(91-93)gGa>gAa p.G31E OPALIN_uc010qor.2_Missense_Mutation_p.G21E|OPALIN_uc001kmi.3_Missense_Mutation_p.G21E|OPALIN_uc001kmk.3_Missense_Mutation_p.G8E|OPALIN_uc010qos.2_Non-coding_Transcript NM_033207 NP_149984 Q96PE5 OPALI_HUMAN Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA. 31 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CGCCGCTAATCCAAGAGAGGG 0.463000 8 4 0 0 0.003080 0 0 SSPO 23145 broad.mit.edu 37 7 149474280 149474280 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:149474280C>T uc010lpk.3 + 3 324 c.324C>T c.(322-324)gcC>gcT p.A108A SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 108 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGCCCTTGCCAAAGCCAGTC 0.622000 9 4 0 0 0.009096 0 0 RASAL1 8437 broad.mit.edu 37 12 113553068 113553068 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:113553068C>T uc001tun.2 - 12 1305 c.1004_splice c.e12-1 p.M335_splice RASAL1_uc010syp.2_Splice_Site_p.M335_splice|RASAL1_uc001tul.3_Splice_Site_p.M335_splice|RASAL1_uc001tum.2_Splice_Site_p.M335_splice|RASAL1_uc010syq.2_Splice_Site_p.M335_splice|RASAL1_uc001tuo.4_Splice_Site_p.M335_splice|RASAL1_uc010syr.2_Splice_Site_p.M335_splice NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 335 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGTTGGGGTCCACTGGGAGGA 0.562000 55 40 0 0 0.009718 0 0 DHX9 1660 broad.mit.edu 37 1 182845222 182845222 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:182845222C>T uc001gpr.3 + 16 2028 c.1853C>T c.(1852-1854)cCa>cTa p.P618L DHX9_uc001gps.3_Missense_Mutation_p.P404L NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 618 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GAATATGGTCCAGAAACAAGG 0.388000 61 17 0 0 0.004990 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985155 64985156 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:64985155_64985156CC>TT uc021qlg.1 + 2 668_669 c.635_636CC>TT c.(634-636)tcc>tTT p.S212F SLC22A20_uc021qlh.1_5'UTR NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA. 210 ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 AACTCCGTCTCCCTGGTGAGTC 0.649000 22 11 0 0 0.004672 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360938 70360938 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:70360938C>T uc003hek.4 - 0 689 c.642G>A c.(640-642)atG>atA p.M214I UGT2B4_uc011cap.2_Missense_Mutation_p.M78I|UGT2B4_uc003hel.4_Missense_Mutation_p.M214I NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 214 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GCACATAGATCATATTTTTTA 0.358000 34 14 0 0 0.016723 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994858 143994858 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:143994858G>A uc003yxk.1 - 5 967 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 322 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.P322T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCAGCAAGGGAAACGCTGTC 0.632000 Familial Hyperaldosteronism type I 63 22 0 0 0.016522 0 0 LOC441455 441455 broad.mit.edu 37 9 99488637 99488637 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:99488637G>A uc011luo.1 + 0 c.535G>A Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA. GTGCCTTCCTGCACTGAAGCA 0.443000 29 9 0 0 0.004482 0 0 ADCY4 196883 broad.mit.edu 37 14 24787742 24787742 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:24787742G>A uc001wow.3 - 24 3533 c.3114C>T c.(3112-3114)tcC>tcT p.S1038S ADCY4_uc010toh.2_Silent_p.S724S|ADCY4_uc001wox.3_Silent_p.S1038S|ADCY4_uc001woy.3_Silent_p.S1038S NM_001198568 NP_001185497 Q8NFM4 ADCY4_HUMAN Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA. 1038 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TGTAGCCCAGGGACTGTAGGG 0.577000 51 20 0 0 0.014323 0 0 OR4X1 390113 broad.mit.edu 37 11 48285898 48285898 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:48285898C>T uc010rht.2 + 0 486 c.486C>T c.(484-486)ttC>ttT p.F162F NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCCTGATTTTCCAGCTCCCGT 0.562000 36 11 0 0 0.010729 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378643 31378643 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:31378643C>T uc003tch.3 - 1 593 c.240G>A c.(238-240)agG>agA p.R80R NEUROD6_uc022abi.1_Silent_p.R80R NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 80 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L79I(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 TCTTTTTTTTCCTAAGACCCC 0.517000 132 45 0 0 0.014410 0 0 ZNF749 388567 broad.mit.edu 37 19 57956182 57956182 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57956182T>C uc002qoq.2 + 2 1920 c.1666T>C c.(1666-1668)Tat>Cat p.Y556H NM_001023561 NP_001018855 O43361 ZN749_HUMAN Homo sapiens zinc finger protein 749 (ZNF749), mRNA. 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GCCAAGGCCTTATGTGTGTAG 0.453000 47 24 0 0 0.014323 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C T T rs150927973 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:120337285C>T uc001eig.3 - 6 873 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_uc001eif.3_Missense_Mutation_p.E145K NM_001159352 NP_114433 Q9BYZ8 REG4_HUMAN Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA. 145 C-type lectin. extracellular region sugar binding p.E145K(4) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 372 170 0 0 0.014410 0 0 COL7A1 1294 broad.mit.edu 37 3 48621382 48621382 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:48621382G>A uc003ctz.2 - 37 4230 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1410 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGTCCAGGGGGACCCTGGGA 0.647000 31 21 0 0 0.012319 0 0 ZNF883 169834 broad.mit.edu 37 9 115760190 115760190 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:115760190C>T uc011lwy.2 - 4 1589 c.350G>A c.(349-351)aGa>aAa p.R117K NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN Homo sapiens zinc finger protein 883 (ZNF883), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AGTATGGATTCTCTCATGATT 0.383000 32 14 0 0 0.016723 0 0 MCF2 4168 broad.mit.edu 37 X 138670580 138670580 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:138670580C>T uc011mwn.1 - 23 2829 c.2823G>A c.(2821-2823)gtG>gtA p.V941V MCF2_uc004fav.3_Silent_p.V812V|MCF2_uc004fau.3_Silent_p.V796V|MCF2_uc010nsh.2_Silent_p.V796V|MCF2_uc011mwm.2_Silent_p.V757V|MCF2_uc011mwl.2_Silent_p.V773V|MCF2_uc011mwo.1_Silent_p.V872V|MCF2_uc004faw.2_Silent_p.V856V NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 796 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) ACGTCATCTTCACATCTACAT 0.333000 28 17 0 0 0.007413 0 0 VPS13D 55187 broad.mit.edu 37 1 12337566 12337566 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12337566G>A uc001atv.3 + 18 4062 c.3921G>A c.(3919-3921)atG>atA p.M1307I VPS13D_uc001atw.3_Missense_Mutation_p.M1307I|VPS13D_uc001atx.3_Missense_Mutation_p.M495I NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1307 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGTTATCCATGGATGAACTGG 0.418000 54 28 0 0 0.007291 0 0 ZNF662 389114 broad.mit.edu 37 3 42956832 42956832 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:42956832C>T uc003cmk.2 + 3 1531 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F ZNF662_uc003cmi.2_Missense_Mutation_p.L423F|ZNF662_uc003cmj.2_Missense_Mutation_p.L315F NM_001134656 NP_001128128 Q6ZS27 ZN662_HUMAN Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA. 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GATCTCTCACCTTCTTGAACA 0.408000 28 11 0 0 0.008291 0 0 NLRP5 126206 broad.mit.edu 37 19 56515201 56515201 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:56515201C>T uc002qmj.3 + 1 182 c.182C>T c.(181-183)tCc>tTc p.S61F NLRP5_uc002qmi.3_Missense_Mutation_p.S61F NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 61 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCACCTTTTCCAGCTACGGG 0.433000 86 29 0 0 0.009535 0 0 PID1 55022 broad.mit.edu 37 2 229890744 229890744 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:229890744C>T uc002vpr.4 - 2 395 c.357G>A c.(355-357)tgG>tgA p.W119* PID1_uc002vps.4_Nonsense_Mutation_p.W117*|PID1_uc002vpt.4_Nonsense_Mutation_p.W86*|PID1_uc002vpu.4_Nonsense_Mutation_p.W37* NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 119 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGTGCTTCTTCCAGAGCTCAA 0.537000 53 15 0 0 0.004990 0 0 INPP5D 3635 broad.mit.edu 37 2 234078703 234078703 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:234078703T>C uc010zmo.2 + 13 1750 c.1597T>C c.(1597-1599)Ttc>Ctc p.F533L INPP5D_uc010zmp.2_Missense_Mutation_p.F532L NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 562 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CATTCTCCGGTTCCTGGCCCT 0.532000 109 37 0 0 0.010771 0 0 FBLN2 2199 broad.mit.edu 37 3 13660447 13660447 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:13660447G>A uc011avc.2 + 6 2365 c.1983G>A c.(1981-1983)ctG>ctA p.L661L FBLN2_uc011auz.2_Silent_p.L687L|FBLN2_uc011avb.2_Silent_p.L661L|FBLN2_uc011ava.2_Silent_p.L661L NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 661 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCCTGCACTGAAGTCAGAAT 0.602000 18 8 0 0 0.008291 0 0 PXK 54899 broad.mit.edu 37 3 58395265 58395265 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:58395265C>T uc003djz.1 + 14 1414 c.1315C>T c.(1315-1317)Cag>Tag p.Q439* PXK_uc003djx.1_Nonsense_Mutation_p.Q439*|PXK_uc003dka.1_Nonsense_Mutation_p.Q439*|PXK_uc003dkb.1_Nonsense_Mutation_p.Q356*|PXK_uc003dkc.1_Nonsense_Mutation_p.Q422*|PXK_uc011bfe.1_Nonsense_Mutation_p.Q406*|PXK_uc010hnj.1_Nonsense_Mutation_p.Q406*|PXK_uc003dkd.1_Nonsense_Mutation_p.Q302*|PXK_uc010hnk.1_Nonsense_Mutation_p.Q213* NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA. 439 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AAAGATTCACCAGCATCGAAG 0.403000 18 6 0 0 0.003080 0 0 GPR142 350383 broad.mit.edu 37 17 72368061 72368061 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72368061G>A uc021ucp.1 + 3 711 c.702G>A c.(700-702)ctG>ctA p.L234L GPR142_uc010wqy.2_Silent_p.L237L NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 237 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCAACATCCTGGAGTTTGCTG 0.657000 26 9 0 0 0.006214 0 0 TRIM26 7726 broad.mit.edu 37 6 30153703 30153703 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:30153703G>A uc003npr.3 - 8 1779 c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S TRIM26_uc003nps.3_Missense_Mutation_p.P524S|TRIM26_uc003npt.3_Missense_Mutation_p.P524S|TRIM26_uc010jry.3_Missense_Mutation_p.P254S NM_003449 NP_003440 Q12899 TRI26_HUMAN Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA. 524 B30.2/SPRY. DNA binding|zinc ion binding lung(1)|ovary(2) 3 CACAGGAAGGGGACCAGGCGC 0.592000 46 10 0 0 0.008291 0 0 OGDHL 55753 broad.mit.edu 37 10 50944552 50944552 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:50944552G>A uc009xog.3 - 19 2720 c.2686C>T c.(2686-2688)Cgg>Tgg p.R896W OGDHL_uc001jie.3_Missense_Mutation_p.R869W|OGDHL_uc010qgt.2_Missense_Mutation_p.R812W|OGDHL_uc010qgu.2_Missense_Mutation_p.R660W NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 869 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGAATCACCCGCTGGAAGCTG 0.642000 25 17 0 0 0.006122 0 0 KBTBD7 84078 broad.mit.edu 37 13 41766536 41766536 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:41766536G>A uc001uxw.1 - 0 2167 c.1858C>T c.(1858-1860)Cct>Tct p.P620S AK056182_uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA. 620 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGGCAGGAAGGATAAACACGA 0.428000 54 24 0 0 0.014323 0 0 MUC16 94025 broad.mit.edu 37 19 9083416 9083416 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9083416C>T uc002mkp.3 - 0 8603 c.8399G>A c.(8398-8400)gGa>gAa p.G2800E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2800 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTCTGATTCCTCCAGAGCT 0.507000 15 10 0 0 0.006214 0 0 TIAM1 7074 broad.mit.edu 37 21 32496914 32496914 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:32496914G>T uc002yow.1 - 27 4704 c.4232C>A c.(4231-4233)tCc>tAc p.S1411Y TIAM1_uc011adk.1_Missense_Mutation_p.S1411Y|TIAM1_uc011adl.1_Missense_Mutation_p.S1351Y NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1411 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATATTGCTGGGATGAGGGAAG 0.542000 44 14 4.3838e-07 4.4402e-07 0.016723 1 0 IFNAR2 3455 broad.mit.edu 37 21 34668534 34668535 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:34668534_34668535CC>TT uc002yrl.1 + 5 1267_1268 c.856_857CC>TT c.(856-858)cca>TTa p.P286L IFNAR2_uc002yrk.1_Missense_Mutation_p.P284L NM_000628 NP_000619 P48551 INAR2_HUMAN Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA. 0 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) TTTCTCCTTTCCATTGTCGGAT 0.450000 118 32 0 0 0.004672 0 0 DSG4 147409 broad.mit.edu 37 18 28970705 28970705 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28970705G>A uc002kwr.2 + 5 739 c.604G>A c.(604-606)Gag>Aag p.E202K DSG4_uc002kwq.2_Missense_Mutation_p.E202K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 202 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CGTCTCTCAGGAGCCATCAGG 0.408000 27 9 0 0 0.010729 0 0 NDRG4 65009 broad.mit.edu 37 16 58538174 58538174 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:58538174C>T uc002enm.3 + 4 741 c.400C>T c.(400-402)Cag>Tag p.Q134* NDRG4_uc002enk.3_Nonsense_Mutation_p.Q114*|NDRG4_uc010vif.2_Nonsense_Mutation_p.Q114*|NDRG4_uc002eno.3_Nonsense_Mutation_p.Q82*|NDRG4_uc010cdk.3_Nonsense_Mutation_p.Q100*|NDRG4_uc010vig.2_Nonsense_Mutation_p.Q112*|NDRG4_uc010vih.2_Nonsense_Mutation_p.Q27*|NDRG4_uc010vii.2_Nonsense_Mutation_p.Q100*|NDRG4_uc002enp.3_Nonsense_Mutation_p.Q82*|NDRG4_uc002enq.1_5'Flank NM_001130487 NP_075061 Q9ULP0 NDRG4_HUMAN Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA. 82 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 GCAGTTTCCTCAGGGGTAGGT 0.612000 88 42 0 0 0.008740 0 0 FCGBP 8857 broad.mit.edu 37 19 40411717 40411717 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:40411717C>T uc002omp.4 - 6 3919 c.3911G>A c.(3910-3912)cGa>cAa p.R1304Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1304 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACACTGACTCGCCCATTACC 0.627000 82 28 0 0 0.017118 0 0 TMEM53 79639 broad.mit.edu 37 1 45120814 45120814 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:45120814G>A uc001cmc.3 - 2 287 c.251C>T c.(250-252)cCt>cTt p.P84L TMEM53_uc001cmd.3_Missense_Mutation_p.P11L|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN Homo sapiens transmembrane protein 53 (TMEM53), mRNA. 84 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) ACGAAGTGAAGGGATACCCAG 0.552000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 20 0 0 0.008871 0 0 NEK2 4751 broad.mit.edu 37 1 211846988 211846988 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:211846988C>T uc001hir.2 - 2 543 c.392G>A c.(391-393)aGt>aAt p.S131N NEK2_uc021piq.1_Missense_Mutation_p.S131N|NEK2_uc001his.4_Missense_Mutation_p.S131N|NEK2_uc001hit.2_Non-coding_Transcript NM_002497 NP_002488 P51955 NEK2_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA. 131 Protein kinase. G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) ACCACCATCACTTCGTCTGTG 0.458000 112 28 0 0 0.007291 0 0 TINAG 27283 broad.mit.edu 37 6 54173504 54173504 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:54173504C>T uc003pcj.2 + 0 302 c.156C>T c.(154-156)ttC>ttT p.F52F TINAG_uc003pci.3_Silent_p.F52F|TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 52 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.F52F(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAGCCATTTTCCAAGGGCAAT 0.423000 93 47 0 0 0.014410 0 0 TLR4 7099 broad.mit.edu 37 9 120466753 120466753 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:120466753G>A uc004bjz.3 + 0 294 c.3G>A c.(1-3)atG>atA p.M1I TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 1 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATGCCAGGATGATGTCTGCCT 0.602000 32 10 0 0 0.008291 0 0 BPGM 669 broad.mit.edu 37 7 134346748 134346748 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:134346748G>A uc003vrv.3 + 2 1030 c.489G>A c.(487-489)gaG>gaA p.E163E BPGM_uc003vrw.3_Silent_p.E163E NM_199186 NP_954655 P07738 PMGE_HUMAN Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA. 163 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 ATGTTCTGGAGAGACTCCTTC 0.453000 56 16 0 0 0.004990 0 0 OR10G3 26533 broad.mit.edu 37 14 22038755 22038755 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22038755C>T uc010tmb.2 - 0 121 c.121G>A c.(121-123)Gga>Aga p.G41R NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) AGCAGGTTTCCCAGCTGAGTC 0.448000 22 12 0 0 0.010729 0 0 LAD1 3898 broad.mit.edu 37 1 201353961 201353961 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:201353961C>T uc001gwm.3 - 4 1369 c.1134G>A c.(1132-1134)atG>atA p.M378I LAD1_uc009wzu.1_Missense_Mutation_p.M400I NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 378 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCTTGGGTTTCATCTGAAATG 0.527000 64 66 0 0 0.014410 0 0 TDRD6 221400 broad.mit.edu 37 6 46660361 46660361 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46660361C>T uc003oyj.3 + 0 4750 c.4496C>T c.(4495-4497)tCt>tTt p.S1499F TDRD6_uc010jze.3_Missense_Mutation_p.S1499F NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1499 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGTTCAAAGTCTGTTAACAAA 0.358000 48 15 0 0 0.003163 0 0 C7orf58 79974 broad.mit.edu 37 7 120776102 120776102 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:120776102C>T uc003vjq.4 + 13 2104 c.1657C>T c.(1657-1659)Cca>Tca p.P553S C7orf58_uc003vjr.1_Missense_Mutation_p.P553S|C7orf58_uc003vjs.4_Missense_Mutation_p.P553S|C7orf58_uc003vjt.4_Missense_Mutation_p.P333S|C7orf58_uc010lkk.2_Missense_Mutation_p.P333S NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 553 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) aGCTGCAGTTCCACAAATTAA 0.244000 26 5 0 0 0.003080 0 0 SACS 26278 broad.mit.edu 37 13 23912862 23912862 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23912862G>A uc001uon.2 - 9 5742 c.5153C>T c.(5152-5154)tCc>tTc p.S1718F SACS_uc001uoo.2_Missense_Mutation_p.S1571F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1718 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGAAGAGCAGGATTTTTTTTT 0.358000 34 8 0 0 0.004482 0 0 PTPRT 11122 broad.mit.edu 37 20 40710567 40710567 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:40710567G>A uc002xkg.3 - 29 4411 c.4227C>T c.(4225-4227)atC>atT p.I1409I PTPRT_uc010ggj.3_Silent_p.I1428I|PTPRT_uc010ggi.3_Silent_p.I612I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1409 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G1408*(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGTTTTCACGATGTGGAACA 0.502000 82 31 0 0 0.013726 0 0 GPR124 25960 broad.mit.edu 37 8 37692876 37692876 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:37692876C>T uc003xkj.3 + 11 2179 c.1793C>T c.(1792-1794)aCc>aTc p.T598I GPR124_uc010lvy.3_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 598 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CGCTGCACCACCGGGAGGCCC 0.687000 23 9 0 0 0.008291 0 0 KLHL4 56062 broad.mit.edu 37 X 86887330 86887330 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:86887330G>A uc004efa.2 + 6 1627 c.1445G>A c.(1444-1446)gGa>gAa p.G482E KLHL4_uc004efb.2_Missense_Mutation_p.G482E NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 482 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.V481M(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TATGTCGTGGGAGGAAGAGAC 0.448000 17 12 0 0 0.010729 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563237 129563237 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:129563237C>T uc009zyl.1 - 7 2285 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K TMEM132D_uc001uia.2_Missense_Mutation_p.E191K NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 653 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATGGTCTTTTCAGCGAGGATG 0.572000 37 28 0 0 0.008361 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013703 99013703 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:99013703G>A uc004awa.1 - 4 498 c.450C>T c.(448-450)atC>atT p.I150I HSD17B3_uc010msc.1_Silent_p.I150I NM_000197 NP_000188 P37058 DHB3_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA. 150 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AGTCTACCTGGATTTCATCCG 0.488000 20 12 0 0 0.003163 0 0 FADS6 283985 broad.mit.edu 37 17 72877225 72877225 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72877225G>A uc002jmd.1 - 3 711 c.699C>T c.(697-699)caC>caT p.H233H FADS6_uc010wrn.1_Intron NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA. 239 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GGAGGTAGGGGTGGGCCAACA 0.607000 17 18 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179603068 179603068 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179603068C>T uc021vsy.1 - 45 10605 c.10380G>A c.(10378-10380)agG>agA p.R3460R TTN_uc021vsz.1_Silent_p.R4533R|TTN_uc021vta.1_Silent_p.R4466R|TTN_uc021vtb.1_Silent_p.R4341R|TTN_uc002umz.1_Silent_p.R121R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4387 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) GTTCGATTTTCCTCTTGATCA 0.468000 22 10 0 0 0.006214 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985455 140985455 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:140985455C>T uc011mwp.2 + 7 1769 c.1769C>T c.(1768-1770)tCc>tTc p.S590F MAGEC3_uc004fbs.3_Silent_p.I339I|MAGEC3_uc010nsj.3_Silent_p.I339I|MAGEC3_uc022cfh.1_Silent_p.I339I NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 590 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTTTTATCCAAGCTATCC 0.478000 44 36 0 0 0.021022 0 0 ARNTL2 56938 broad.mit.edu 37 12 27573445 27573445 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:27573445G>A uc001rht.2 + 16 2110 c.1891G>A c.(1891-1893)Gac>Aac p.D631N ARNTL2_uc001rhu.2_Missense_Mutation_p.D617N|ARNTL2_uc001rhv.2_Missense_Mutation_p.D583N|ARNTL2_uc001rhw.3_Missense_Mutation_p.D594N|ARNTL2_uc010sjp.2_3'UTR|ARNTL2_uc009zji.2_Missense_Mutation_p.D597N|BC043511_uc001rhx.3_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA. 631 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GGACTTCAGTGACATCCAGTG 0.418000 47 61 0 0 0.014410 0 0 OR10H5 284433 broad.mit.edu 37 19 15905786 15905786 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:15905786C>T uc010xos.2 + 0 928 c.928C>T c.(928-930)Ctc>Ttc p.L310F NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTTCACCAAACTCTTTCCACA 0.478000 24 9 0 0 0.004482 0 0 CD48 962 broad.mit.edu 37 1 160648920 160648920 + Splice_Site SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:160648920G>A uc001fwn.3 - 4 685 c.653_splice c.e4-1 p.A218_splice NM_001778 NP_001769 P09326 CD48_HUMAN Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA. 218 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAAAGGACCGGGCTGAAAGAG 0.468000 76 23 0 0 0.004656 0 0 PTPRF 5792 broad.mit.edu 37 1 44056778 44056778 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:44056778C>T uc001cjr.3 + 8 1425 c.1085C>T c.(1084-1086)cCc>cTc p.P362L PTPRF_uc001cjs.3_Missense_Mutation_p.P362L|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 362 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGGAGGGCCCCTTTCAGGAG 0.622000 69 35 0 0 0.005524 0 0 LAMC2 3918 broad.mit.edu 37 1 183204779 183204779 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:183204779C>T uc001gqa.2 + 15 2684 c.2370C>T c.(2368-2370)ctC>ctT p.L790L LAMC2_uc001gpz.4_Silent_p.L790L|LAMC2_uc010poa.2_Silent_p.L490L NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 790 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AACAAGCCCTCTCACTGGTGC 0.517000 OREG0014042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 19 0 0 0.014323 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664527 50664527 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:50664527T>C uc003bkb.1 - 8 2297 c.1785A>G c.(1783-1785)atA>atG p.I595M TUBGCP6_uc010har.1_Missense_Mutation_p.I595M|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA. 595 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGCAGACGTATATGTCGTGGG 0.557000 149 52 0 0 0.014410 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769665 112769665 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:112769665G>A uc003kqm.2 - 0 1064 c.872C>T c.(871-873)tCc>tTc p.S291F MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 291 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) AGTTCCCCGGGAACTCTCCCC 0.632000 26 16 0 0 0.004990 0 0 OR4K13 390433 broad.mit.edu 37 14 20502527 20502527 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20502527G>A uc010tkz.2 - 0 391 c.391C>T c.(391-393)Cat>Tat p.H131Y NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTCATGTAATGGAGGGGTTTG 0.468000 69 28 0 0 0.005443 0 0 MFN2 9927 broad.mit.edu 37 1 12066609 12066609 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12066609C>T uc001atn.4 + 15 2184 c.1731C>T c.(1729-1731)atC>atT p.I577I MFN2_uc009vni.3_Silent_p.I577I NM_014874 NP_055689 O95140 MFN2_HUMAN Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 577 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGCGTCCCATCCCTCTGACGC 0.597000 51 11 0 0 0.013537 0 0 ACTA1 58 broad.mit.edu 37 1 229568416 229568416 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:229568416G>A uc001htm.3 - 2 446 c.341C>T c.(340-342)cCc>cTc p.P114L NM_001100 NP_001091 P68133 ACTS_HUMAN Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA. 114 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GTTGGCCTTGGGATTGAGGGG 0.612000 160 51 0 0 0.014410 0 0 ICOSLG 23308 broad.mit.edu 37 21 45656889 45656889 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:45656889G>A uc010gpp.1 - 2 401 c.267C>T c.(265-267)gcC>gcT p.A89A ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A89A|ICOSLG_uc011afc.2_5'UTR NM_015259 NP_056074 O75144 ICOSL_HUMAN Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA. 89 Ig-like V-type. B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GCAGCATGCCGGCCGGTGACA 0.602000 55 21 0 0 0.016522 0 0 TGM3 7053 broad.mit.edu 37 20 2308917 2308917 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2308917C>T uc002wfx.4 + 8 1336 c.1239C>T c.(1237-1239)tcC>tcT p.S413S NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 413 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GGAAGAATTCCGTGAACAGTC 0.537000 74 15 0 0 0.003163 0 0 FAT3 120114 broad.mit.edu 37 11 92087445 92087445 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:92087445C>T uc001pdj.4 + 0 2184 c.2167C>T c.(2167-2169)Cca>Tca p.P723S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 723 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAGACAGGGACCATATTTTGA 0.398000 TCGA Ovarian(4;0.039) 399 157 0 0 0.014410 0 0 OSBPL10 114884 broad.mit.edu 37 3 31725152 31725152 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:31725152G>A uc021wuu.1 - 7 2371 c.1700C>T c.(1699-1701)tCc>tTc p.S567F OSBPL10_uc003ceu.1_Missense_Mutation_p.S324F|OSBPL10_uc011axf.2_Missense_Mutation_p.S503F NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA. 567 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GACCCCCACGGACATGCCCAT 0.478000 101 37 0 0 0.007835 0 0 ENAM 10117 broad.mit.edu 37 4 71508384 71508384 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71508384G>A uc011caw.1 + 8 1522 c.1241G>A c.(1240-1242)gGa>gAa p.G414E NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 414 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CACCCTGTAGGAACTACTGTT 0.458000 58 33 0 0 0.010818 0 0 CLCN1 1180 broad.mit.edu 37 7 143028368 143028368 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:143028368C>T uc003wcr.1 + 8 1110 c.1023C>T c.(1021-1023)ttC>ttT p.F341F CLCN1_uc011ktc.1_Silent_p.F3F NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 341 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GAATGGATTTCCCCTTTGACC 0.507000 86 25 0 0 0.007291 0 0 GH1 2688 broad.mit.edu 37 17 61995482 61995482 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:61995482G>A uc002jdj.3 - 2 248 c.186C>T c.(184-186)atC>atT p.I62I GH1_uc002jdi.3_Intron|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.I62I NM_000515 NP_000506 P01241 SOMA_HUMAN Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA. 62 JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GTTCCTTTGGGATATAGGCTT 0.517000 167 63 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3241875 3241875 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:3241875C>T uc004crg.4 - 4 2008 c.1851G>A c.(1849-1851)agG>agA p.R617R NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 617 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATTAATTATCCTTCTGTTTG 0.443000 20 17 0 0 0.006122 0 0 RGPD4 285190 broad.mit.edu 37 2 108488640 108488640 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:108488640C>T uc010ywk.2 + 19 4262 c.4180C>T c.(4180-4182)Cgt>Tgt p.R1394C RGPD4_uc002tdu.3_Missense_Mutation_p.R581C|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1394 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TAAGCAAGTTCGTATAGTGAT 0.358000 224 101 0 0 0.014410 0 0 ZNF578 147660 broad.mit.edu 37 19 53014213 53014213 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:53014213C>T uc002pzp.4 + 5 823 c.579C>T c.(577-579)tcC>tcT p.S193S NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTCAACATCCCAAAGAATTT 0.368000 64 34 0 0 0.015359 0 0 VWA5A 4013 broad.mit.edu 37 11 124007781 124007781 + Missense_Mutation SNP G A A rs143375060 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:124007781G>A uc001pzu.3 + 14 1894 c.1685G>A c.(1684-1686)aGg>aAg p.R562K VWA5A_uc001pzt.3_Missense_Mutation_p.R562K NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 562 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ATGGGCCTCAGGGAGACTCCA 0.453000 35 27 0 0 0.006320 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758729 62758729 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:62758729C>T uc011kdj.2 - 1 149 c.81G>A c.(79-81)ctG>ctA p.L27L Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA. GCCATTCCTCCAGAGAGAATT 0.428000 37 14 0 0 0.020292 0 0 C7orf58 79974 broad.mit.edu 37 7 120768439 120768439 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:120768439G>A uc003vjq.4 + 10 1753 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K C7orf58_uc003vjr.1_Missense_Mutation_p.E436K|C7orf58_uc003vjs.4_Missense_Mutation_p.E436K|C7orf58_uc003vjt.4_Missense_Mutation_p.E216K|C7orf58_uc010lkk.2_Missense_Mutation_p.E216K NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 436 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) AATACAGGGTGAAAACTATCA 0.358000 48 25 0 0 0.004656 0 0 C1orf168 199920 broad.mit.edu 37 1 57258104 57258104 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57258104C>T uc001cym.4 - 1 788 c.382G>A c.(382-384)Gaa>Aaa p.E128K C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E128K NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 128 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATTACTTTTTCCTTAGTGATT 0.428000 94 53 0 0 0.014410 0 0 OSMR 9180 broad.mit.edu 37 5 38881857 38881857 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:38881857G>A uc003jln.2 + 3 811 c.409G>A c.(409-411)Gaa>Aaa p.E137K OSMR_uc003jlm.2_Missense_Mutation_p.E137K NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 137 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.E136D(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTCCTGGGAGGAAGTCAGTGG 0.418000 82 30 0 0 0.019004 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962911 69962911 + Missense_Mutation SNP G A A rs146308452 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:69962911G>A uc003heg.4 + 0 719 c.673G>A c.(673-675)Gaa>Aaa p.E225K UGT2B7_uc010ihq.3_Missense_Mutation_p.E225K NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 225 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E225K(2) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTTTTGGTTCGAAATATTTGA 0.318000 45 23 0 0 0.012319 0 0 CARM1 10498 broad.mit.edu 37 19 11024645 11024645 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:11024645C>T uc002mpz.3 + 5 888 c.762C>T c.(760-762)atC>atT p.I254I CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Silent_p.I37I NM_199141 NP_954592 Q86X55 CARM1_HUMAN Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA. 254 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGGACATCATCATCTCGGAGC 0.607000 29 10 0 0 0.006214 0 0 LTBP2 4053 broad.mit.edu 37 14 75022267 75022267 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:75022267G>A uc001xqa.3 - 3 1347 c.960C>T c.(958-960)ggC>ggT p.G320G NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 320 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCTGCTCAAGGCCTGGTCCCG 0.647000 31 31 0 0 0.012213 0 0 AKR1C4 1109 broad.mit.edu 37 10 5254973 5254973 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:5254973C>T uc001ihw.2 + 6 730 c.697C>T c.(697-699)Cca>Tca p.P233S NM_001818 NP_001809 P17516 AK1C4_HUMAN Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA. 233 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CCCAAACTCCCCAGTTCTTTT 0.512000 26 12 0 0 0.016723 0 0 LRWD1 222229 broad.mit.edu 37 7 102108588 102108588 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:102108588C>T uc003uzn.3 + 5 896 c.758C>T c.(757-759)tCg>tTg p.S253L NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA. 253 DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCCTCCCCGTCGGCCCAGGTG 0.687000 11 7 0 0 0.001984 0 0 PDZD4 57595 broad.mit.edu 37 X 153073826 153073826 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:153073826G>A uc004fja.1 - 1 535 c.285C>T c.(283-285)gtC>gtT p.V95V PDZD4_uc004fiy.1_Silent_p.V14V|PDZD4_uc004fiz.1_Silent_p.V95V|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 95 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCAGGATGACCATGGGCG 0.667000 24 15 0 0 0.004007 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131203 52131203 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52131203G>A uc002pxe.3 - 4 1020 c.881C>T c.(880-882)tCc>tTc p.S294F NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 294 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CCCGGTATTGGAGATGGGGGT 0.622000 70 29 0 0 0.008361 0 0 PGM2 55276 broad.mit.edu 37 4 37836258 37836258 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:37836258G>A uc011byb.1 + 2 341 c.268G>A c.(268-270)Gaa>Aaa p.E90K PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron NM_018290 NP_060760 Q96G03 PGM2_HUMAN Homo sapiens phosphoglucomutase 2 (PGM2), mRNA. 90 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CAGATACCTGGAAAAACAATT 0.343000 84 33 0 0 0.017118 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84872130 84872130 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:84872130C>T uc010voh.1 + 1 256 c.29C>T c.(28-30)cCc>cTc p.P10L CRISPLD2_uc010vog.1_Missense_Mutation_p.P10L|CRISPLD2_uc002fik.4_Missense_Mutation_p.P10L|CRISPLD2_uc002fil.2_Missense_Mutation_p.P10L|CRISPLD2_uc002fim.2_Missense_Mutation_p.P10L|CRISPLD2_uc002fin.4_Missense_Mutation_p.P10L NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA. 10 extracellular region|transport vesicle p.P10S(1) endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GGTGTCATCCCCTTGGGGCTG 0.617000 88 54 0 0 0.014410 0 0 TCR-alpha 0 broad.mit.edu 37 14 22788987 22788987 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22788987C>T uc001wdr.2 + 1 252 c.200C>T c.(199-201)tCc>tTc p.S67F TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69. GGCATTGTTTCCTTGTTTATG 0.463000 17 10 0 0 0.010729 0 0 C22orf42 150297 broad.mit.edu 37 22 32554976 32554976 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:32554976G>A uc003amd.3 - 0 268 c.227C>T c.(226-228)tCc>tTc p.S76F NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA. 76 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 TTTACCTTTGGACATCTTCAG 0.547000 131 43 0 0 0.013114 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072195 17072195 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:17072195C>T uc002zlp.1 - 0 1506 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 416 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAAGCCATTTCTGTGGCCCCA 0.542000 33 20 0 0 0.010504 0 0 OR4A47 403253 broad.mit.edu 37 11 48511046 48511046 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:48511046C>T uc010rhx.2 + 0 702 c.702C>T c.(700-702)gcC>gcT p.A234A NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GGCAAAAAGCCCTCTCAACCT 0.433000 78 39 0 0 0.019004 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47230265 47230265 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:47230265C>T uc002ion.2 + 3 696 c.637C>T c.(637-639)Cca>Tca p.P213S B4GALNT2_uc010wlt.1_Missense_Mutation_p.P127S|B4GALNT2_uc010wlu.1_Missense_Mutation_p.P153S NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 213 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGTTCCCATCCCAGGTAAGTA 0.592000 16 3 0 0 0.009096 0 0 OR5D13 390142 broad.mit.edu 37 11 55541798 55541798 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:55541798G>A uc010ril.2 + 0 885 c.885G>A c.(883-885)agG>agA p.R295R NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R295R(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACAGCCTTAGGAACAAAGATA 0.348000 32 14 0 0 0.003163 0 0 C12orf53 196500 broad.mit.edu 37 12 6806658 6806658 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:6806658G>A uc021quc.1 - 2 657 c.318C>T c.(316-318)atC>atT p.I106I C12orf53_uc001qqf.2_Silent_p.I106I|C12orf53_uc001qqg.2_Silent_p.I106I NM_001244015 NP_001230944 Q8IYJ0 CL053_HUMAN Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA. 106 integral to membrane kidney(2)|large_intestine(1)|lung(3) 6 GACCCCACACGATAGCCCAGG 0.622000 19 11 0 0 0.008291 0 0 ALMS1 7840 broad.mit.edu 37 2 73680499 73680499 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:73680499C>T uc002sje.1 + 7 6953 c.6842C>T c.(6841-6843)cCc>cTc p.P2281L ALMS1_uc002sjf.1_Missense_Mutation_p.P2239L|ALMS1_uc002sjg.3_Missense_Mutation_p.P1669L|ALMS1_uc002sjh.1_Missense_Mutation_p.P1669L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 2281 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTTCCTGCTCCCCTTGCCCGT 0.398000 24 14 0 0 0.016723 0 0 LMAN2 10960 broad.mit.edu 37 5 176765561 176765561 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176765561G>A uc003mge.3 - 2 598 c.361C>T c.(361-363)Cac>Tac p.H121Y NM_006816 NP_006807 Q12907 LMAN2_HUMAN Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA. 121 L-type lectin-like. protein transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane metal ion binding|sugar binding p.V120I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGTGCCGTGGACTTTGAAG 0.622000 129 61 0 0 0.014410 0 0 CLPS 1208 broad.mit.edu 37 6 35765054 35765054 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:35765054G>A uc003ole.2 - 0 68 c.12C>T c.(10-12)atC>atT p.I4I CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Silent_p.I4I NM_001832 NP_001823 P04118 COL_HUMAN Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA. 4 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GGAGGATCAGGATCTTCTCCA 0.607000 87 17 0 0 0.007413 0 0 CEP85L 387119 broad.mit.edu 37 6 118801628 118801628 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:118801628G>A uc003pya.2 - 9 1870 c.1803C>T c.(1801-1803)ccC>ccT p.P601P CEP85L_uc003pxz.2_Silent_p.P598P NM_001178035 NP_001171506 Q5SZL2 CF204_HUMAN Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA. 598 centrosome CATCTAACATGGGAAGGCGGA 0.338000 30 21 0 0 0.012319 0 0 SHMT2 6472 broad.mit.edu 37 12 57626237 57626237 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:57626237C>T uc001snf.2 + 6 801 c.595_splice c.e6-1 p.P199_splice SHMT2_uc001snh.2_Splice_Site_p.P201_splice|SHMT2_uc009zpk.2_Intron|SHMT2_uc001sng.2_Splice_Site_p.P95_splice|SHMT2_uc001sni.2_Splice_Site_p.P178_splice|SHMT2_uc010srg.2_Splice_Site_p.P208_splice|SHMT2_uc010srh.2_Splice_Site_p.P178_splice|SHMT2_uc001snj.2_Missense_Mutation_p.P103L|SHMT2_uc010sri.2_Splice_Site_p.P178_splice|SHMT2_uc001snk.2_Missense_Mutation_p.P103L|SHMT2_uc010srj.2_5'Flank NM_005412 NP_001159831 P34897 GLYM_HUMAN Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 199 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCTGTCCAGCCCAAAACTGGC 0.587000 48 42 0 0 0.009718 0 0 CCDC158 339965 broad.mit.edu 37 4 77324342 77324342 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:77324342C>T uc003hkb.4 - 1 172 c.19G>A c.(19-21)Gaa>Aaa p.E7K CCDC158_uc003hkd.3_Missense_Mutation_p.E7K NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 7 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTATTTGATTCCCAAGCTTTT 0.323000 30 12 0 0 0.003163 0 0 THSD1 55901 broad.mit.edu 37 13 52971369 52971369 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:52971369G>A uc001vgo.3 - 2 1564 c.1019C>T c.(1018-1020)aCa>aTa p.T340I THSD1_uc001vgp.3_Missense_Mutation_p.T340I|THSD1_uc010tgz.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 340 TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATACAAACCTGTATTTCTCTG 0.313000 40 14 0 0 0.004007 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025567 203025567 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:203025567C>T uc009xaj.3 + 22 2546 c.2546C>T c.(2545-2547)cCt>cTt p.P849L PPFIA4_uc010pqf.2_Missense_Mutation_p.P431L|PPFIA4_uc001gyz.3_Missense_Mutation_p.P218L|PPFIA4_uc001gza.3_Missense_Mutation_p.P218L|PPFIA4_uc001gzb.1_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 218 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACTTCTCCTCCTTCCTCACCC 0.567000 34 32 0 0 0.013726 0 0 CHP2 63928 broad.mit.edu 37 16 23768523 23768523 + Splice_Site SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:23768523T>C uc002dmb.1 + 6 838 c.415_splice c.e6-1 p.V139_splice NM_022097 NP_071380 O43745 CHP2_HUMAN Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA. 139 EF-hand 3. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) ATCTCTCAGGTTCTCCGTCTG 0.557000 44 14 0 0 0.003163 0 0 TMC2 117532 broad.mit.edu 37 20 2552872 2552872 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2552872G>A uc002wgf.1 + 4 617 c.602G>A c.(601-603)gGg>gAg p.G201E TMC2_uc002wgg.1_Missense_Mutation_p.G185E|TMC2_uc010zpw.1_Missense_Mutation_p.G33E|TMC2_uc010zpx.1_Missense_Mutation_p.G32E NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 201 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTGGGAAAGGGGAAAGGCAAG 0.488000 91 12 0 0 0.013537 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188753 50188753 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:50188753C>T uc009zlk.2 - 7 3092 c.2890G>A c.(2890-2892)Gag>Aag p.E964K NCKAP5L_uc001rvc.3_Missense_Mutation_p.E168K|NCKAP5L_uc001rvb.2_Missense_Mutation_p.E557K NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 960 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TTGAGGCTCTCGGCCTCCAGC 0.672000 3 4 0 0 0.009096 0 0 DNAH8 1769 broad.mit.edu 37 6 38840746 38840746 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:38840746C>T uc021yzh.1 + 50 7411 c.7302C>T c.(7300-7302)tcC>tcT p.S2434S DNAH8_uc003ooe.2_Silent_p.S2217S NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTTAAATTCCGTTTTGGATG 0.378000 90 20 0 0 0.018920 0 0 C1orf198 84886 broad.mit.edu 37 1 230979542 230979542 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:230979542G>A uc001hub.3 - 2 529 c.485C>T c.(484-486)tCc>tTc p.S162F C1orf198_uc009xfh.2_Missense_Mutation_p.S32F|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.S124F NM_032800 NP_001129967 Q9H425 CA198_HUMAN Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA. 162 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GAGGGCCTGGGAGCCCTGGGA 0.627000 187 95 0 0 0.014410 0 0 ABCB1 5243 broad.mit.edu 37 7 87179824 87179824 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:87179824C>T uc003uiz.2 - 11 1677 c.1184G>A c.(1183-1185)aGa>aAa p.R395K ABCB1_uc011khc.2_Missense_Mutation_p.R331K NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 395 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTGAACATTTCTGAATTCCAA 0.313000 55 18 0 0 0.008871 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905704 139905704 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:139905704C>T uc003lfs.2 + 25 4770 c.4616C>T c.(4615-4617)cCc>cTc p.P1539L ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1539L|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P1019L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P278L|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P177L|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1539 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACAACTCCCAGCACCAAT 0.413000 106 50 0 0 0.014410 0 0 GPR98 84059 broad.mit.edu 37 5 90459687 90459687 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:90459687G>A uc003kju.3 + 89 18987 c.18891G>A c.(18889-18891)agG>agA p.R6297R GPR98_uc003kjt.3_Silent_p.R4003R|GPR98_uc003kjw.3_Silent_p.R1958R|GPR98_uc003kjx.3_Silent_p.R325R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 6297 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.R6297M(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGAGCTCAGGAGGATACCCA 0.502000 10 5 0 0 0.001984 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769189 15769189 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:15769189G>A uc010xok.2 + 9 1281 c.1231G>A c.(1231-1233)Ggc>Agc p.G411S CYP4F3_uc010xol.2_Missense_Mutation_p.G411S|CYP4F3_uc002nbj.3_Missense_Mutation_p.G411S|CYP4F3_uc010xom.2_Missense_Mutation_p.G262S|CYP4F3_uc002nbk.3_Missense_Mutation_p.G411S|CYP4F3_uc010xon.2_Missense_Mutation_p.G121S NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 411 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCTCCCAGACGGCCGGGTCAT 0.642000 55 23 0 0 0.012319 0 0 RELN 5649 broad.mit.edu 37 7 103126741 103126741 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:103126741C>T uc022ajr.1 - 60 10046 c.9886G>A c.(9886-9888)Ggg>Agg p.G3296R RELN_uc022ajq.1_Missense_Mutation_p.G3296R|RELN_uc010liz.3_Missense_Mutation_p.G3296R|RN7SK_uc022ajs.1_5'Flank NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 3296 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCAGCTGCCCACAGCCACTT 0.512000 62 24 0 0 0.006320 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744139 70744139 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:70744139C>T uc003xyl.3 - 1 1477 c.770G>A c.(769-771)gGa>gAa p.G257E SLCO5A1_uc010lzb.3_Missense_Mutation_p.G257E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G257E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G257E NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 257 integral to membrane|plasma membrane transporter activity p.G257E(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTGATTATTTCCTCCCGAGTC 0.547000 39 20 0 0 0.014323 0 0 PTEN 5728 broad.mit.edu 37 10 89720876 89720876 + Splice_Site SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:89720876G>C uc001kfb.3 + 8 2058 c.1026_splice c.e8+1 p.K342_splice PTEN_uc021pvw.1_Splice_Site NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 342 C2 tensin-type. K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type). T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAATTTTAAGGTCAGTTAAAT 0.323000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 38 3 0 0 0.009096 0 0 GPC4 2239 broad.mit.edu 37 X 132439837 132439837 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:132439837C>T uc004exc.1 - 5 1330 c.1118G>A c.(1117-1119)cGc>cAc p.R373H GPC4_uc011mvg.1_Missense_Mutation_p.R303H NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 373 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.E372K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) TGTGGTTGGGCGTTCCTCGGG 0.537000 132 106 0 0 0.014410 0 0 ABCC11 85320 broad.mit.edu 37 16 48244997 48244997 + Silent SNP G A A rs139456533 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:48244997G>A uc002eff.1 - 9 1820 c.1470C>T c.(1468-1470)atC>atT p.I490I ABCC11_uc002efg.1_Silent_p.I490I|ABCC11_uc002efh.1_Silent_p.I490I|ABCC11_uc010vgk.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 490 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCCCATTGACGATCCCGGGAC 0.577000 83 39 0 0 0.007835 0 0 ALG3 10195 broad.mit.edu 37 3 183962422 183962422 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:183962422G>A uc003fne.2 - 4 724 c.693C>T c.(691-693)gcC>gcT p.A231A ALG3_uc011brc.1_Silent_p.A196A|ALG3_uc011brd.1_Silent_p.A175A|ALG3_uc011bre.1_Silent_p.A183A NM_005787 NP_005778 Q92685 ALG3_HUMAN Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA. 231 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTTGGGGAGGGCCCCACGGA 0.552000 14 5 0 0 0.001168 0 0 PARD3 56288 broad.mit.edu 37 10 34688294 34688294 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:34688294C>T uc010qej.2 - 6 1184 c.854G>A c.(853-855)gGa>gAa p.G285E PARD3_uc010qep.2_Missense_Mutation_p.G241E|PARD3_uc010qeq.2_Missense_Mutation_p.G241E|PARD3_uc010qek.2_Missense_Mutation_p.G285E|PARD3_uc010qel.2_Missense_Mutation_p.G285E|PARD3_uc010qem.2_Missense_Mutation_p.G285E|PARD3_uc010qen.2_Missense_Mutation_p.G285E|PARD3_uc010qeo.2_Missense_Mutation_p.G285E|PARD3_uc001ixo.2_Missense_Mutation_p.G15E|PARD3_uc001ixr.2_Missense_Mutation_p.G285E|PARD3_uc001ixq.2_Missense_Mutation_p.G285E|PARD3_uc001ixp.2_Missense_Mutation_p.G285E|PARD3_uc001ixt.1_Missense_Mutation_p.G106E|PARD3_uc001ixu.2_Missense_Mutation_p.G241E NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 285 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TACGTGGATTCCCAGAGGCCC 0.438000 93 37 0 0 0.013114 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008216 32008216 + Missense_Mutation SNP G A A rs150804717 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:32008216G>A uc003nze.2 + 7 1080 c.973G>A c.(973-975)Gaa>Aaa p.E325K CYP21A2_uc003nzf.2_Missense_Mutation_p.E295K NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 324 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GCTAGACCACGAACTGGGCCC 0.682000 268 57 0 0 0.014410 0 0 CSH2 1443 broad.mit.edu 37 17 61949558 61949558 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:61949558C>T uc002jch.3 - 4 697 c.582G>A c.(580-582)aaG>aaA p.K194K CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.K99K NM_020991 NP_066271 P01243 CSH_HUMAN Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA. 194 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 TGTCCATGTCCTTCCTGAAGC 0.562000 106 45 0 0 0.014410 0 0 MEP1A 4224 broad.mit.edu 37 6 46806867 46806867 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46806867G>A uc011dwh.1 + 12 2327 c.2319G>A c.(2317-2319)agG>agA p.R773R MEP1A_uc010jzh.1_Silent_p.R745R|MEP1A_uc011dwg.1_Silent_p.R467R|MEP1A_uc011dwi.1_Silent_p.R645R NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 745 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AAAGGCCAAGGAAGTGACCTG 0.557000 49 18 0 0 0.007413 0 0 CA1 759 broad.mit.edu 37 8 86244781 86244781 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:86244781C>T uc022axc.1 - 5 530 c.451_splice c.e5-1 p.V151_splice CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Splice_Site_p.V151_splice|CA1_uc022axd.1_Splice_Site_p.V151_splice|CA1_uc010mae.2_Splice_Site_p.V151_splice|CA1_uc003ydi.3_Splice_Site_p.V151_splice NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 151 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GCCTCACCAACCTGGAGATTT 0.328000 33 8 0 0 0.006214 0 0 C8A 731 broad.mit.edu 37 1 57333298 57333298 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57333298G>A uc001cyo.2 + 1 226 c.94G>A c.(94-96)Gct>Act p.A32T NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 32 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAGACGGGCAGCTACACCCGC 0.463000 25 7 0 0 0.001984 0 0 RPL18 6141 broad.mit.edu 37 19 49120620 49120620 + Silent SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:49120620A>G uc002pjq.1 - 2 184 c.151T>C c.(151-153)Ttg>Ctg p.L51L RPL18_uc010xzs.1_Silent_p.L51L|RPL18_uc021uwv.1_Silent_p.L51L|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank NM_000979 NP_000970 Q07020 RL18_HUMAN Homo sapiens ribosomal protein L18 (RPL18), mRNA. 51 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome cervix(1)|kidney(2) 3 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154) CTCATAAACAACCTCTTCAAC 0.567000 133 55 0 0 0.014410 0 0 SRGAP2 23380 broad.mit.edu 37 1 206634486 206634486 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:206634486C>T uc001hdy.3 + 19 2677 c.2676C>T c.(2674-2676)ccC>ccT p.P892P SRGAP2_uc010pru.2_Silent_p.P891P NM_015326 NP_056141 O75044 FNBP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA. 979 Ser-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CCTTGGAGCCCCTCAAAACCT 0.622000 39 10 0 0 0.008291 0 0 VWA7 80737 broad.mit.edu 37 6 31742374 31742374 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:31742374C>T uc011dog.2 - 4 878 c.640G>A c.(640-642)Gag>Aag p.E214K VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 214 extracellular region CAGCTCAACTCCTCGCAATCG 0.577000 293 79 0 0 0.014410 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125856726 125856726 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:125856726C>T uc003eim.1 - 9 1344 c.1154G>A c.(1153-1155)gGg>gAg p.G385E ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.G284E|ALDH1L1_uc003eio.3_Missense_Mutation_p.G87E|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G411E NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 385 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATGAAGTCCCCAAAGGTGGA 0.557000 48 22 0 0 0.012319 0 0 OLFML3 56944 broad.mit.edu 37 1 114524268 114524269 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:114524268_114524269CC>TT uc001eer.1 + 2 1207_1208 c.1098_1099CC>TT c.(1096-1101)ccccgc>ccTTgc p.R367C OLFML3_uc001ees.1_Missense_Mutation_p.R347C|OLFML3_uc001eet.1_Missense_Mutation_p.R223C NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN Homo sapiens olfactomedin-like 3 (OLFML3), mRNA. 367 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTATTTTCCCCGCAGATATGG 0.584000 43 15 0 0 0.004672 0 0 LILRB4 11006 broad.mit.edu 37 19 55179409 55179409 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:55179409C>T uc002qgp.3 + 11 1648 c.1286C>T c.(1285-1287)cCa>cTa p.P429L LILRB4_uc002qgq.3_Missense_Mutation_p.P428L|LILRB4_uc010ert.3_Missense_Mutation_p.P470L|LILRB4_uc010eru.3_Missense_Mutation_p.P459L NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 429 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGCCTCCTCCATCCCAGGAA 0.617000 79 29 0 0 0.010818 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645922 19645922 + Missense_Mutation SNP G A A rs146746671 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:19645922G>A uc002gwk.3 - 1 1030 c.767C>T c.(766-768)cCc>cTc p.P256L ALDH3A1_uc010cqu.3_Missense_Mutation_p.P139L|ALDH3A1_uc010vzd.2_Missense_Mutation_p.P139L|ALDH3A1_uc002gwj.3_Missense_Mutation_p.P139L|ALDH3A1_uc010cqv.3_Missense_Mutation_p.P139L|ALDH3A1_uc002gwl.1_Missense_Mutation_p.P66L P30838 AL3A1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA. 139 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CAGCTCCGAGGGCTTGAGGAC 0.617000 38 25 0 0 0.018920 0 0 MUC16 94025 broad.mit.edu 37 19 8976783 8976783 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8976783C>T uc002mkp.3 - 72 42487 c.42283G>A c.(42283-42285)Ggc>Agc p.G14095S MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G895S|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14126 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAGCTGAGCCCTTGCCCATA 0.567000 28 11 0 0 0.008291 0 0 SF3B4 10262 broad.mit.edu 37 1 149895856 149895856 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:149895856G>A uc001etk.2 - 4 1457 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_005850 NP_005841 Q15427 SF3B4_HUMAN Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA. 322 U12-type spliceosomal complex|nucleoplasm RNA binding|nucleotide binding|protein binding p.P322H(1) endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCAGCGTGGGGATGTCCTAAG 0.582000 20 3 0 0 0.001168 0 0 EMR1 2015 broad.mit.edu 37 19 6901952 6901952 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:6901952A>G uc002mfw.3 + 5 619 c.581A>G c.(580-582)aAc>aGc p.N194S EMR1_uc010dvc.3_Missense_Mutation_p.N194S|EMR1_uc010dvb.3_Missense_Mutation_p.N142S|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 194 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ACTGTTGGAAACTACTCTTGT 0.483000 201 70 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 8993392 8993392 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8993392C>T uc002mkp.3 - 65 41901 c.41697G>A c.(41695-41697)agG>agA p.R13899R MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.R716R|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13902 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTCCCTGTCCAGTG 0.562000 133 50 0 0 0.014410 0 0 SLMAP 7871 broad.mit.edu 37 3 57882648 57882648 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:57882648C>T uc003dje.1 + 14 1644 c.1439C>T c.(1438-1440)tCc>tTc p.S480F SLMAP_uc003djc.1_Missense_Mutation_p.S476F|SLMAP_uc003djd.1_Missense_Mutation_p.S463F|SLMAP_uc003djf.1_Missense_Mutation_p.S442F|SLMAP_uc003djg.1_Missense_Mutation_p.S74F|SLMAP_uc011bez.1_Missense_Mutation_p.S14F|SLMAP_uc011bfa.1_Missense_Mutation_p.S14F|SLMAP_uc003djh.3_Missense_Mutation_p.S14F|SLMAP_uc003dji.1_Missense_Mutation_p.S14F|SLMAP_uc011bfb.1_Missense_Mutation_p.S14F|SLMAP_uc011bfc.1_Missense_Mutation_p.S14F NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN Homo sapiens sarcolemma associated protein (SLMAP), mRNA. 480 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GCCAAAGTGTCCCTTTTAAAA 0.343000 59 24 0 0 0.021523 0 0 C2orf55 343990 broad.mit.edu 37 2 99454685 99454685 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:99454685G>A uc002szf.1 - 2 430 c.136C>T c.(136-138)Ccg>Tcg p.P46S NM_207362 NP_997245 Q6NV74 CB055_HUMAN Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA. 46 NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 GTGGACGACGGCGATTCTTTT 0.403000 24 11 0 0 0.010729 0 0 CABS1 85438 broad.mit.edu 37 4 71201408 71201408 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71201408C>T uc003hff.3 + 0 738 c.652C>T c.(652-654)Cct>Tct p.P218S CABS1_uc021xoz.1_Missense_Mutation_p.P218S NM_033122 NP_149113 Q96KC9 CABS1_HUMAN Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA. 218 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGCTGAAATCCCTCCTGCTCC 0.423000 37 10 0 0 0.006214 0 0 YSK4 80122 broad.mit.edu 37 2 135743584 135743584 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:135743584G>A uc002tue.1 - 6 2889 c.2858C>T c.(2857-2859)tCc>tTc p.S953F YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S840F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.S681F|YSK4_uc002tui.4_Missense_Mutation_p.S970F NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 953 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) AATTTCTTGGGAAATTGAATT 0.308000 24 13 0 0 0.020292 0 0 KIF26A 26153 broad.mit.edu 37 14 104642925 104642925 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:104642925C>T uc001yos.4 + 11 3800 c.3800C>T c.(3799-3801)tCc>tTc p.S1267F NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 1267 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) ACACTTGGCTCCCCCCGGCTG 0.697000 21 17 0 0 0.004990 0 0 GRIA3 2892 broad.mit.edu 37 X 122459949 122459949 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:122459949G>A uc004etq.4 + 3 873 c.581G>A c.(580-582)gGa>gAa p.G194E GRIA3_uc004etr.4_Missense_Mutation_p.G194E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G178E NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 194 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AGGTCTGTGGGAAACATAAAG 0.443000 18 10 0 0 0.006214 0 0 TSKS 60385 broad.mit.edu 37 19 50245250 50245250 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:50245250G>A uc002ppm.3 - 8 1400 c.1389C>T c.(1387-1389)tcC>tcT p.S463S NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA. 463 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCTGCTGCAGGGACTCCGTAG 0.627000 38 14 0 0 0.004007 0 0 NSUN7 79730 broad.mit.edu 37 4 40778268 40778268 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:40778268G>A uc003gvj.4 + 6 1523 c.1028G>A c.(1027-1029)gGa>gAa p.G343E NSUN7_uc003gvi.4_Missense_Mutation_p.G343E NM_024677 NP_078953 Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA. NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 ACAAAAATAGGATGTAAAAGT 0.264000 38 14 0 0 0.004990 0 0 CNTN5 53942 broad.mit.edu 37 11 99827607 99827607 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:99827607C>T uc001pga.3 + 7 1247 c.743C>T c.(742-744)tCc>tTc p.S248F CNTN5_uc009ywv.2_Missense_Mutation_p.S248F|CNTN5_uc001pfz.3_Missense_Mutation_p.S248F|CNTN5_uc021qpb.1_Missense_Mutation_p.S248F|CNTN5_uc021qpc.1_Missense_Mutation_p.S174F NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 248 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CGGTTCATCTCCCAGGAGACA 0.423000 43 15 0 0 0.007413 0 0 TTYH1 57348 broad.mit.edu 37 19 54940485 54940485 + Splice_Site SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:54940485G>C uc002qfr.3 + 6 857 c.735_splice c.e6-1 p.V245_splice TTYH1_uc010yey.2_Splice_Site_p.V294_splice|TTYH1_uc002qfq.3_Splice_Site_p.V245_splice|TTYH1_uc002qft.3_Splice_Site_p.V245_splice|TTYH1_uc002qfu.1_Splice_Site_p.V157_splice NM_001005367 NP_001005367 Q9H313 TTYH1_HUMAN Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA. 245 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CCCACTCTAGGATGACAGTCA 0.642000 71 30 0 0 0.010818 0 0 ADRBK2 157 broad.mit.edu 37 22 26107084 26107084 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26107084C>T uc003abx.4 + 16 1592 c.1445C>T c.(1444-1446)gCc>gTc p.A482V ADRBK2_uc003abw.2_Missense_Mutation_p.A369V|ADRBK2_uc003aby.4_Non-coding_Transcript NM_005160 NP_005151 P35626 ARBK2_HUMAN Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA. 482 AGC-kinase C-terminal. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) GCTGCTGATGCCTTTGATATT 0.413000 37 14 0 0 0.004990 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379952 131379952 + Silent SNP C T T rs146418243 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:131379952C>T uc004bvl.4 + 40 5518 c.5376C>T c.(5374-5376)taC>taT p.Y1792Y SPTAN1_uc004bvm.4_Silent_p.Y1797Y|SPTAN1_uc004bvn.4_Silent_p.Y1772Y NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 1792 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAGAGGACTACGGCCGGGACC 0.587000 49 23 0 0 0.014323 0 0 FAM131B 9715 broad.mit.edu 37 7 143053691 143053691 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:143053691G>A uc010lpa.3 - 6 1179 c.1035C>T c.(1033-1035)tcC>tcT p.S345S FAM131B_uc010loz.3_Silent_p.S285S|FAM131B_uc003wct.3_Silent_p.S317S|FAM131B_uc003wcu.4_Silent_p.S317S NM_001031690 NP_055505 Q86XD5 F131B_HUMAN Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA. 317 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GCACACCTGAGGATGTGACGT 0.592000 101 34 0 0 0.013726 0 0 OVGP1 5016 broad.mit.edu 37 1 111963975 111963975 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:111963975C>T uc001eba.3 - 7 882 c.826G>A c.(826-828)Ggg>Agg p.G276R OVGP1_uc001eaz.3_Missense_Mutation_p.G238R|OVGP1_uc010owb.2_Intron NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 276 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GCCTGCAACCCATTCTTAGAG 0.502000 109 41 0 0 0.009718 0 0 KRT81 3887 broad.mit.edu 37 12 52681839 52681839 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:52681839C>T uc001sab.3 - 4 879 c.829G>A c.(829-831)Gag>Aag p.E277K KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron NM_002281 NP_002272 Q14533 KRT81_HUMAN Homo sapiens keratin 81 (KRT81), mRNA. 277 Coil 2.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTTAATCTCGGCAATGATG 0.587000 39 25 0 0 0.018920 0 0 OR1B1 347169 broad.mit.edu 37 9 125390894 125390894 + Silent SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:125390894G>C uc011lyz.2 - 0 921 c.921C>G c.(919-921)ctC>ctG p.L307L NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 GCAGCCTGCAGAGTGCACCCT 0.473000 33 24 0 0 0.021523 0 0 PSD 5662 broad.mit.edu 37 10 104176318 104176318 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:104176318G>A uc001kvg.1 - 1 1005 c.478C>T c.(478-480)Ccc>Tcc p.P160S PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.P160S|PSD_uc001kvi.1_Missense_Mutation_p.P160S|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 160 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCTCTGGCGGGGAGTGGGTCT 0.657000 6 4 0 0 0.014758 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419995 19419995 + RNA SNP C G G rs78291036 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:19419995C>G uc010tcj.1 - 0 c.26115G>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GAACTAAGAACAGTTAGATAA 0.294000 51 18 0 0 0.007413 0 0 PLA2G7 7941 broad.mit.edu 37 6 46678293 46678293 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46678293C>T uc010jzf.3 - 7 1035 c.766G>A c.(766-768)Gaa>Aaa p.E256K PLA2G7_uc021zae.1_Missense_Mutation_p.E256K|PLA2G7_uc011dwd.1_Missense_Mutation_p.E211K|PLA2G7_uc011dwe.1_Missense_Mutation_p.E129K NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 256 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTCAGTTGTTCCATATCAAAC 0.328000 62 14 0 0 0.016723 0 0 POU6F2 11281 broad.mit.edu 37 7 39379543 39379543 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:39379543C>T uc003thb.2 + 5 957 c.814C>T c.(814-816)Ccc>Tcc p.P272S POU6F2_uc022acb.1_Missense_Mutation_p.P272S|POU6F2_uc010kxo.3_Missense_Mutation_p.P264S NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 272 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gagctccagccccCCGCAGAA 0.622000 46 19 0 0 0.008871 0 0 LOC644669 644669 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323340A>G uc002ktd.1 - 2 c.119T>C Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. CTTATGGCCAATAAAAGTGGT 0.299000 10 3 0 0 0.009096 0 0 PDGFB 5155 broad.mit.edu 37 22 39627771 39627771 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:39627771G>A uc003axf.3 - 3 1301 c.312C>T c.(310-312)ttC>ttT p.F104F PDGFB_uc003axe.3_Silent_p.F89F NM_002608 NP_002599 P01127 PDGFB_HUMAN Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA. 104 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GGGAGATCTCGAACACCTCGG 0.647000 T COL1A1 DFSP 15 3 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34109108 34109108 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:34109108G>A uc001zhi.3 + 74 10618 c.10548G>A c.(10546-10548)tgG>tgA p.W3516* RYR3_uc010bar.3_Nonsense_Mutation_p.W3511* NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3516 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.I3516M(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGAGATTTTGGATAGAAACAG 0.458000 16 6 0 0 0.001984 0 0 MC2R 4158 broad.mit.edu 37 18 13884968 13884968 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:13884968G>A uc002ksp.1 - 1 727 c.550C>T c.(550-552)Ctg>Ttg p.L184L MC2R_uc021uhs.1_Silent_p.L184L NM_000529 NP_000520 Q01718 ACTHR_HUMAN Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA. 184 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) ACCAGCATCAGCGGGAACAGC 0.562000 59 15 0 0 0.020292 0 0 AQR 9716 broad.mit.edu 37 15 35202393 35202393 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:35202393G>A uc001ziv.3 - 16 1787 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 536 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACATCTGCACGAACTCGGGTT 0.448000 97 39 0 0 0.009718 0 0 NTRK3 4916 broad.mit.edu 37 15 88476264 88476264 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:88476264C>T uc002bme.2 - 15 2174 c.1868G>A c.(1867-1869)gGa>gAa p.G623E NTRK3_uc002bmh.2_Missense_Mutation_p.G615E|NTRK3_uc002bmf.2_Missense_Mutation_p.G623E|NTRK3_uc021sua.1_Missense_Mutation_p.G615E|NTRK3_uc010upl.1_Missense_Mutation_p.G525E|NTRK3_uc010bnh.1_Missense_Mutation_p.G615E NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 623 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTCAGGTCTCCATGCTTCAT 0.522000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 30 30 0 0 0.008361 0 0 IGSF11 152404 broad.mit.edu 37 3 118644973 118644973 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:118644973G>A uc003ebw.3 - 3 802 c.555C>T c.(553-555)ctC>ctT p.L185L IGSF11_uc011biv.2_Silent_p.L185L|IGSF11_uc003ebx.3_Silent_p.L185L|IGSF11_uc003eby.3_Silent_p.L184L|IGSF11_uc003ebz.3_Silent_p.L184L|IGSF11_uc010hqs.3_Silent_p.L184L NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA. 185 Ig-like C2-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAGGTAGTTTGAGGGTATTGT 0.408000 38 15 0 0 0.004990 0 0 OR8K3 219473 broad.mit.edu 37 11 56086282 56086282 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:56086282C>T uc010rjf.2 + 0 500 c.500C>T c.(499-501)tCc>tTc p.S167F NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTTACTTTATCCTTCTGTGGC 0.373000 57 23 0 0 0.021523 0 0 KDR 3791 broad.mit.edu 37 4 55968659 55968659 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:55968659C>T uc003has.3 - 13 2306 c.2004G>A c.(2002-2004)acG>acA p.T668T KDR_uc003hat.1_Silent_p.T668T NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 668 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.T668M(1)|p.T668K(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCCTGTGATCGTGGGTGCCA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 37 10 0 0 0.013537 0 0 LAMB3 3914 broad.mit.edu 37 1 209803960 209803960 + Splice_Site SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:209803960T>C uc001hhg.3 - 8 1333 c.943_splice c.e8+1 p.R315_splice LAMB3_uc009xco.3_Splice_Site_p.R315_splice|LAMB3_uc001hhh.3_Splice_Site_p.R315_splice|LAMB3_uc010psl.1_Splice_Site|LAMB3_uc009xcp.1_Missense_Mutation_p.S251G NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 315 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGCTCCTACTTTGGCATTCA 0.612000 77 20 0 0 0.014323 0 0 DNAJB3 414061 broad.mit.edu 37 2 234652280 234652280 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:234652280C>T uc002vuz.3 - 0 382 c.283G>A c.(283-285)Gac>Aac p.D95N UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA. 95 protein folding heat shock protein binding|unfolded protein binding TCGGCTGGGTCGCGGAAGCTG 0.627000 91 35 0 0 0.005524 0 0 EMR3 84658 broad.mit.edu 37 19 14765866 14765866 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:14765866C>T uc002mzi.4 - 5 653 c.505G>A c.(505-507)Gaa>Aaa p.E169K EMR3_uc010dzp.3_Missense_Mutation_p.E117K|EMR3_uc010xnv.2_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 169 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ACTTTCGATTCCACATCCCGG 0.408000 65 35 0 0 0.015359 0 0 MUC13 56667 broad.mit.edu 37 3 124641140 124641140 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:124641140G>A uc003ehq.2 - 3 684 c.645C>T c.(643-645)ttC>ttT p.F215F NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 215 SEA. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TCTTCCCAGGGAATACCTTTC 0.338000 26 15 0 0 0.003163 0 0 LOC644669 644669 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323336G>A uc002ktd.1 - 2 c.123C>T Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. TTTCCTTATGGCCAATAAAAG 0.289000 10 3 0 0 0.014758 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355734 16355734 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:16355734G>A uc001axu.3 + 11 1247 c.1167G>A c.(1165-1167)tgG>tgA p.W389* CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Nonsense_Mutation_p.W346*|CLCNKA_uc001axv.3_Nonsense_Mutation_p.W389*|CLCNKA_uc010obx.1_Nonsense_Mutation_p.W36*|CLCNKA_uc010oby.1_Missense_Mutation_p.G119R|CLCNKA_uc021ogl.1_Nonsense_Mutation_p.W36* NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 389 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACCTTTGGTGGGAATGGTACC 0.627000 75 30 0 0 0.008361 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355224 38355224 + Silent SNP C A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38355224C>A uc003cib.2 + 6 1243 c.1170C>A c.(1168-1170)acC>acA p.T390T SLC22A14_uc010hhc.1_Silent_p.T390T|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 390 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCAGGTTTACCGTCAGTTACA 0.577000 62 29 1.13719e-10 1.16133e-10 0.008361 1 0 RABEP2 79874 broad.mit.edu 37 16 28925708 28925708 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:28925708G>A uc002drq.3 - 4 791 c.743C>T c.(742-744)tCc>tTc p.S248F NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.S177F|RABEP2_uc010byn.3_Missense_Mutation_p.S248F|RABEP2_uc002drr.3_Missense_Mutation_p.S248F NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA. 248 endocytosis|protein transport early endosome GTPase activator activity|growth factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TTGGGGCAGGGAGGAGCTGCT 0.672000 34 10 0 0 0.010729 0 0 ZAN 7455 broad.mit.edu 37 7 100346076 100346076 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:100346076G>A uc003uwj.3 + 10 1397 c.1232G>A c.(1231-1233)gGa>gAa p.G411E ZAN_uc003uwk.3_Missense_Mutation_p.G411E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 411 MAM 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGCCCTGCGGGAGGTTTCCCT 0.592000 12 6 0 0 0.001984 0 0 ELTD1 64123 broad.mit.edu 37 1 79357242 79357242 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:79357242G>A uc001diq.4 - 13 2133 c.1977C>T c.(1975-1977)ttC>ttT p.F659F NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 659 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATAAAAAAATGAACATCCCCT 0.398000 29 12 0 0 0.016723 0 0 CEACAM16 388551 broad.mit.edu 37 19 45208946 45208946 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:45208946C>T uc010xxd.2 + 4 954 c.748C>T c.(748-750)Ctg>Ttg p.L250L NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 250 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GTCCCTCACCCTGTGGTGCGT 0.602000 300 141 0 0 0.014410 0 0 MLL3 58508 broad.mit.edu 37 7 151841956 151841956 + Missense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:151841956A>C uc003wla.3 - 54 14404 c.14185T>G c.(14185-14187)Tta>Gta p.L4729V MLL3_uc003wkz.3_Missense_Mutation_p.L3843V|MLL3_uc003wkx.3_Missense_Mutation_p.L887V|MLL3_uc003wky.3_Missense_Mutation_p.L2289V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4729 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GTGCTGTTTAAGGTGTGAGGC 0.423000 N medulloblastoma 27 10 0 0 0.008291 0 0 BCAR1 9564 broad.mit.edu 37 16 75268868 75268868 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:75268868G>A uc002fdv.3 - 4 2075 c.1929C>T c.(1927-1929)ttC>ttT p.F643F BCAR1_uc002fdt.3_Silent_p.F96F|BCAR1_uc002fdu.3_Silent_p.F433F|BCAR1_uc010vna.2_Silent_p.F641F|BCAR1_uc010cgu.3_Silent_p.F661F|BCAR1_uc010vnb.2_Silent_p.F689F|BCAR1_uc002fdw.3_Silent_p.F643F|BCAR1_uc010vnc.2_Silent_p.F495F|BCAR1_uc010vnd.2_Silent_p.F661F|BCAR1_uc002fdx.3_Silent_p.F661F NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 643 B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGAGGTGAACTTAGGGG 0.662000 51 26 0 0 0.007291 0 0 SPDYC 387778 broad.mit.edu 37 11 64939939 64939939 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:64939939G>A uc010rnz.2 + 4 379 c.379G>A c.(379-381)Ggc>Agc p.G127S NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA. 127 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GGACCTGGAGGGCCCCAAATG 0.557000 113 44 0 0 0.014410 0 0 NFIA 4774 broad.mit.edu 37 1 61554224 61554224 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:61554224G>A uc010oos.2 + 2 648 c.566G>A c.(565-567)aGt>aAt p.S189N NFIA_uc001czy.3_Missense_Mutation_p.S136N|NFIA_uc001czw.3_Missense_Mutation_p.S144N|NFIA_uc001czv.3_Missense_Mutation_p.S144N NM_001145512 NP_001138984 Q12857 NFIA_HUMAN Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA. 144 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 CCGCTGGAAAGTACTGATGGC 0.473000 74 32 0 0 0.012213 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367791 145367791 + Missense_Mutation SNP G A A rs78046651 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:145367791G>A uc021oul.1 + 82 10422 c.10387G>A c.(10387-10389)Ggg>Agg p.G3463R NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3463 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aagaaaagaaggggaagaaga 0.433000 39 22 0 0 0.021523 0 0 XIRP2 129446 broad.mit.edu 37 2 168104432 168104432 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168104432A>G uc002udx.3 + 8 6619 c.6530A>G c.(6529-6531)gAc>gGc p.D2177G XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2002G|XIRP2_uc010fpq.3_Missense_Mutation_p.D1955G|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2002 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAACTTACGACCTTTCAGGG 0.368000 32 14 0 0 0.006122 0 0 ERN1 2081 broad.mit.edu 37 17 62132152 62132152 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62132152G>A uc002jdz.2 - 13 1822 c.1709C>T c.(1708-1710)tCc>tTc p.S570F NM_001433 NP_001424 O75460 ERN1_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA. 570 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGGACAGAAGGAAATTTTCCC 0.488000 6 7 0 0 0.001984 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G A A rs150520281 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:21817457G>A uc010vbl.1 - 6 603 c.106C>T c.(106-108)Ctg>Ttg p.L36L LOC23117_uc021tel.1_Intron Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA. CTTACATCCAGCTTGAGTAGT 0.259000 11 3 0 0 0.004672 0 0 CABYR 26256 broad.mit.edu 37 18 21735932 21735932 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:21735932C>T uc002kux.3 + 3 619 c.467C>T c.(466-468)cCa>cTa p.P156L CABYR_uc021uig.1_Missense_Mutation_p.P138L|CABYR_uc010xbb.1_Missense_Mutation_p.P58L|CABYR_uc002kuy.3_Missense_Mutation_p.P156L|CABYR_uc002kuz.3_Missense_Mutation_p.P156L|CABYR_uc002kva.3_Missense_Mutation_p.P138L|CABYR_uc002kvb.3_Missense_Mutation_p.P58L|CABYR_uc002kvc.3_Missense_Mutation_p.P156L|CABYR_uc010dlw.3_Non-coding_Transcript NM_012189 NP_036321 O75952 CABYR_HUMAN Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA. 156 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CCCTCATCACCACCTCCAACA 0.507000 72 26 0 0 0.005443 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584677 72584677 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72584677C>T uc002jkz.2 - 1 381 c.352G>A c.(352-354)Gtc>Atc p.V118I C17orf77_uc002jla.1_Intron NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA. 118 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 TGAACTTTGACCCCAAGATCA 0.483000 73 25 0 0 0.021523 0 0 CACNA1B 774 broad.mit.edu 37 9 141016070 141016070 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:141016070C>T uc004cog.3 + 45 6778 c.6633C>T c.(6631-6633)ttC>ttT p.F2211F CACNA1B_uc022bqn.1_Intron|CACNA1B_uc004coi.3_Silent_p.F1425F NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2213 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.I2211>?(1) 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) CCATCCACTTCGCCGGGGCTC 0.706000 26 9 0 0 0.006214 0 0 CXorf21 80231 broad.mit.edu 37 X 30577862 30577862 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:30577862G>A uc022bui.1 - 0 611 c.611C>T c.(610-612)cCt>cTt p.P204L CXorf21_uc004dcg.2_Missense_Mutation_p.P204L NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 204 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 ATTAGAAATAGGATTCTGCAT 0.423000 51 34 0 0 0.021022 0 0 ZNF224 7767 broad.mit.edu 37 19 44610703 44610703 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:44610703C>T uc002oyh.2 + 5 707 c.390C>T c.(388-390)ttC>ttT p.F130F LOC100379224_uc002oyi.3_Non-coding_Transcript NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN Homo sapiens zinc finger protein 224 (ZNF224), mRNA. 130 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AAGGTGATTTCCCCTGCCAGA 0.433000 45 19 0 0 0.007413 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16855861 16855861 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:16855861G>A uc002gqs.1 - 1 111 c.98C>T c.(97-99)tCc>tTc p.S33F TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron NM_012452 NP_036584 O14836 TR13B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. 33 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 TTCGGGGCAGGATCTCATAGC 0.617000 IgA Deficiency, Selective 28 11 0 0 0.010729 0 0 ITGB6 3694 broad.mit.edu 37 2 160964243 160964243 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:160964243G>A uc002ubh.2 - 13 2230 c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C ITGB6_uc010fou.2_Missense_Mutation_p.R739C|ITGB6_uc010zcq.1_Missense_Mutation_p.R697C|ITGB6_uc010fov.1_Missense_Mutation_p.R739C NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 739 Interaction with HAX1. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACTTCTTTACGATCATGAAAT 0.458000 62 23 0 0 0.018920 0 0 CDH8 1006 broad.mit.edu 37 16 61851459 61851459 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:61851459G>A uc002eog.2 - 6 2156 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y CDH8_uc002eoh.3_Missense_Mutation_p.H170Y NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 401 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCATTTTCATGAACTTCAAGT 0.453000 42 18 0 0 0.007413 0 0 KCNN3 3782 broad.mit.edu 37 1 154744721 154744721 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154744721G>A uc021pah.1 - 2 1492 c.1178C>T c.(1177-1179)tCc>tTc p.S393F KCNN3_uc001ffo.3_Missense_Mutation_p.S88F|KCNN3_uc001ffp.3_Missense_Mutation_p.S393F|KCNN3_uc009wox.1_Missense_Mutation_p.S393F NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 398 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGTGTGTAGGAGAAGGCCAG 0.607000 37 8 0 0 0.006214 0 0 VSIG4 11326 broad.mit.edu 37 X 65259822 65259822 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:65259822G>A uc004dwh.2 - 0 146 c.19C>T c.(19-21)Ctg>Ttg p.L7L VSIG4_uc004dwi.2_Silent_p.L7L|VSIG4_uc004dwj.3_Silent_p.L7L|VSIG4_uc011moy.2_Silent_p.L7L NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA. 7 complement activation, alternative pathway integral to membrane protein binding p.G6C(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGAGTAGCAGGCCCAGTAAG 0.562000 14 20 0 0 0.004656 0 0 CADM3 57863 broad.mit.edu 37 1 159169545 159169545 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:159169545C>T uc001ftl.2 + 7 1136 c.957C>T c.(955-957)ccC>ccT p.P319P CADM3_uc001ftk.2_Silent_p.P353P|LOC100131825_uc001ftm.2_Intron NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 319 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TTCCAGACCCCAGTCCGGTGC 0.537000 69 19 0 0 0.018920 0 0 USP11 8237 broad.mit.edu 37 X 47103918 47103918 + Silent SNP C T T rs137968498 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:47103918C>T uc004dhp.3 + 13 1941 c.1941C>T c.(1939-1941)aaC>aaT p.N647N USP11_uc004dhq.3_Silent_p.N374N NM_004651 NP_004642 P51784 UBP11_HUMAN Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA. 647 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CCAAACCCAACTCAGATGATG 0.547000 23 17 0 0 0.010504 0 0 NUP210L 91181 broad.mit.edu 37 1 154026785 154026785 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154026785C>T uc001fdw.3 - 24 3474 c.3402G>A c.(3400-3402)ggG>ggA p.G1134G NUP210L_uc009woq.3_Silent_p.G43G|NUP210L_uc010peh.2_Silent_p.G1134G NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 1134 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAACAATCTTCCCTGTAACTT 0.473000 45 31 0 0 0.009535 0 0 LAMA3 3909 broad.mit.edu 37 18 21526119 21526119 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:21526119C>T uc002kuq.3 + 69 9308 c.9222C>T c.(9220-9222)ggC>ggT p.G3074G LAMA3_uc002kur.3_Silent_p.G3018G|LAMA3_uc002kus.4_Silent_p.G1465G|LAMA3_uc002kut.4_Silent_p.G1409G NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3074 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTGTTTGGCCATGATGGGG 0.443000 87 16 0 0 0.006122 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311384 180311384 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:180311384G>A uc002unn.4 - 6 1388 c.784C>T c.(784-786)Ccc>Tcc p.P262S ZNF385B_uc002unj.3_Missense_Mutation_p.P160S|ZNF385B_uc002unl.3_Missense_Mutation_p.P159S|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P186S NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 262 nucleus nucleic acid binding|zinc ion binding p.S261A(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTCTTGGAGGGAGAAGTGGCT 0.463000 67 35 0 0 0.021022 0 0 ITGA4 3676 broad.mit.edu 37 2 182360652 182360652 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:182360652C>T uc002unu.3 + 13 2291 c.1528C>T c.(1528-1530)Cca>Tca p.P510S ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 510 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CAAGGAAGTTCCAGGTTACAT 0.423000 60 18 0 0 0.008871 0 0 ERO1L 30001 broad.mit.edu 37 14 53118997 53118997 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:53118997G>A uc001wzv.3 - 12 1305 c.1085C>T c.(1084-1086)tCa>tTa p.S362L NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA. 362 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor p.N361D(1) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) AGCAAAAAATGAATTCTCATC 0.279000 52 19 0 0 0.010504 0 0 KAT2A 2648 broad.mit.edu 37 17 40271325 40271325 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:40271325G>A uc002hyx.2 - 5 1071 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 337 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCTCCACTCGGAACTTTTCCA 0.567000 87 46 0 0 0.014410 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088187 17088187 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:17088187G>A uc002nfb.3 - 14 1922 c.1890C>T c.(1888-1890)ttC>ttT p.F630F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 583 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGGTTTTCGAAGAAGGTCT 0.612000 56 38 0 0 0.006230 0 0 PROL1 58503 broad.mit.edu 37 4 71275451 71275451 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71275451C>T uc003hfi.3 + 2 580 c.406C>T c.(406-408)Cct>Tct p.P136S NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 136 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TATTTACCTTCCTATCTCTAA 0.438000 65 30 0 0 0.008361 0 0 LGR6 59352 broad.mit.edu 37 1 202283943 202283943 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:202283943G>A uc001gxu.3 + 16 1581 c.1581G>A c.(1579-1581)ctG>ctA p.L527L LGR6_uc001gxv.3_Silent_p.L475L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L388L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 527 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ACCAGGACCTGGATGAGCTCC 0.562000 46 35 0 0 0.021022 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411703 105411703 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:105411703G>A uc010axc.1 - 6 10205 c.10085C>T c.(10084-10086)tCt>tTt p.S3362F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3262F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3362 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGGTCCACAGAAGGGAGCTG 0.672000 103 80 0 0 0.014410 0 0 POP4 10775 broad.mit.edu 37 19 30106215 30106215 + Silent SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:30106215G>T uc002nsf.2 + 6 647 c.591G>T c.(589-591)ggG>ggT p.G197G POP4_uc002nsg.2_Silent_p.G116G NM_006627 NP_006618 O95707 RPP29_HUMAN Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA. 197 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex RNA binding|identical protein binding|ribonuclease P activity breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) ACATTTACGGGAGCAAATTCC 0.418000 30 13 4.3838e-07 4.4402e-07 0.016723 1 0 APOB 338 broad.mit.edu 37 2 21252650 21252650 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21252650C>T uc002red.3 - 11 1606 c.1478G>A c.(1477-1479)gGa>gAa p.G493E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 493 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCCATATTTCCAATGACCTG 0.428000 441 165 0 0 0.014410 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511738 233511738 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233511738G>A uc001hvt.4 + 6 2013 c.1752G>A c.(1750-1752)agG>agA p.R584R KIAA1804_uc001hvu.4_Silent_p.R30R NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 584 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) ATGTAAAAAGGAATTTTAAGA 0.348000 46 9 0 0 0.006214 0 0 SLFN13 146857 broad.mit.edu 37 17 33770934 33770934 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33770934G>A uc002hjk.1 - 1 1402 c.1072C>T c.(1072-1074)Cct>Tct p.P358S SLFN13_uc010wch.1_Missense_Mutation_p.P358S|SLFN13_uc002hjl.2_Missense_Mutation_p.P358S|SLFN13_uc002hjm.2_Missense_Mutation_p.P27S|SLFN13_uc010ctt.2_Missense_Mutation_p.P40S NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 358 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGTCTGGAGGAAACTCTGAA 0.393000 22 17 0 0 0.004990 0 0 NUP210L 91181 broad.mit.edu 37 1 154090314 154090314 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154090314C>T uc001fdw.3 - 11 1579 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.E503K NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 503 integral to membrane p.E503D(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACCACTGTTTCATTAGAAGAA 0.408000 41 43 0 0 0.011902 0 0 TARS2 80222 broad.mit.edu 37 1 150471505 150471505 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:150471505G>A uc001euq.3 + 11 1541 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.E430K|TARS2_uc009wlt.3_Missense_Mutation_p.E138K|TARS2_uc009wls.3_Missense_Mutation_p.E382K NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 512 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGACCAGGCCGAACAGGTGAG 0.562000 118 35 0 0 0.017118 0 0 TRPM6 140803 broad.mit.edu 37 9 77407591 77407591 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:77407591C>T uc004ajl.1 - 18 2725 c.2487G>A c.(2485-2487)agG>agA p.R829R TRPM6_uc004ajk.1_Silent_p.R824R|TRPM6_uc022bib.1_Silent_p.R824R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 829 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CATAGACTTTCCTGGTCCACG 0.398000 30 6 0 0 0.001984 0 0 KCNK1 3775 broad.mit.edu 37 1 233807082 233807082 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233807082C>T uc010pxo.1 + 2 985 c.817C>T c.(817-819)Ctg>Ttg p.L273L NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 273 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) ACTCCATGAGCTGAAAAAATT 0.443000 94 16 0 0 0.003163 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763562 92763562 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:92763562C>T uc003umh.1 - 4 2939 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K SAMD9L_uc003umj.1_Missense_Mutation_p.E575K|SAMD9L_uc003umi.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E575K|SAMD9L_uc003umk.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E575K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E575K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 575 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AACATATTTTCCATTCCTTTG 0.358000 48 22 0 0 0.014323 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862608 25862608 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:25862608C>T uc003nfk.4 - 2 266 c.156G>A c.(154-156)acG>acA p.T52T SLC17A3_uc003nfi.4_Silent_p.T52T|SLC17A3_uc011djz.1_Silent_p.T52T|SLC17A3_uc011dka.1_Silent_p.T52T NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 52 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TTTGTGCTATCGTTGTGAAAT 0.413000 74 18 0 0 0.008871 0 0 HAUS5 23354 broad.mit.edu 37 19 36109915 36109915 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:36109915C>T uc002oam.1 + 12 1194 c.1143C>T c.(1141-1143)gcC>gcT p.A381A NM_015302 NP_056117 O94927 HAUS5_HUMAN Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA. 381 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGCTACAGGCCAAACAGCAGC 0.632000 33 15 0 0 0.004007 0 0 LOC642846 642846 broad.mit.edu 37 12 9463786 9463786 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:9463786G>A uc001qvp.2 + 11 c.1012G>A LOC642846_uc010sgp.1_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. GTGGTTTCTGGAGGGGTGGTC 0.622000 33 25 0 0 0.007291 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795495 142795495 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:142795495C>T uc004fbz.3 - 1 937 c.183G>A c.(181-183)acG>acA p.T61T NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 61 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AATTTATTTTCGTATGCTTCC 0.443000 58 58 0 0 0.014410 0 0 FAM83B 222584 broad.mit.edu 37 6 54805757 54805757 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:54805757G>A uc003pck.3 + 4 2104 c.1988G>A c.(1987-1989)cGa>cAa p.R663Q NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 663 p.R662S(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAAAAGGCGAAGTTTCCCG 0.343000 59 23 0 0 0.004656 0 0 LCE2C 353140 broad.mit.edu 37 1 152648614 152648614 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152648614C>T uc021ozc.1 + 0 123 c.123C>T c.(121-123)ttC>ttT p.F41F LCE2C_uc001fah.3_Silent_p.F41F NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN Homo sapiens late cornified envelope 2C (LCE2C), mRNA. 41 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCATGTTTCCCTGCAGTCT 0.627000 99 80 0 0 0.014410 0 0 PTGFR 5737 broad.mit.edu 37 1 79002193 79002193 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:79002193C>T uc001din.3 + 2 1167 c.901C>T c.(901-903)Cct>Tct p.P301S PTGFR_uc001dim.3_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 301 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AATCTTAGATCCTTGGGTATA 0.393000 48 22 0 0 0.014323 0 0 OR8D2 283160 broad.mit.edu 37 11 124189235 124189235 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:124189235G>A uc010sah.2 - 0 859 c.859C>T c.(859-861)Cct>Tct p.P287S NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAGATTAGAGGATTCAGCATG 0.433000 62 48 0 0 0.014410 0 0 MERTK 10461 broad.mit.edu 37 2 112786409 112786409 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:112786409G>A uc002thk.1 + 18 3090 c.2968G>A c.(2968-2970)Gac>Aac p.D990N MERTK_uc002thl.1_Missense_Mutation_p.D814N NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 990 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTTTGCTGACGACTCCTCAGA 0.507000 51 17 0 0 0.006122 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698526 103698526 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:103698526G>A uc001vpy.4 - 5 1601 c.1004C>T c.(1003-1005)tCg>tTg p.S335L NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 335 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTATAAAACGATGACTCTGG 0.373000 33 22 0 0 0.018920 0 0 PPP2R3B 28227 broad.mit.edu 37 X 299624 299624 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:299624G>A uc004cpg.3 - 10 1623 c.1359C>T c.(1357-1359)atC>atT p.I453I PPP2R3B_uc004cpf.3_Silent_p.I54I NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 453 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGCAGCGTGATCTTCCCTG 0.607000 52 38 0 0 0.006999 0 0 GPATCH2 55105 broad.mit.edu 37 1 217784256 217784256 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:217784256G>A uc001hlf.1 - 3 1089 c.993C>T c.(991-993)ccC>ccT p.P331P GPATCH2_uc001hlg.4_Silent_p.P331P NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN Homo sapiens G patch domain containing 2 (GPATCH2), mRNA. 331 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GTGACATAAGGGGAAAAGAAC 0.438000 81 11 0 0 0.010729 0 0 IL18RAP 8807 broad.mit.edu 37 2 103059758 103059758 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:103059758G>A uc002tbx.3 + 7 1379 c.895G>A c.(895-897)Gaa>Aaa p.E299K IL18RAP_uc010fiz.3_Missense_Mutation_p.E157K NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 299 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCTAGAGTGGGAAGTCTCAGT 0.393000 38 24 0 0 0.018920 0 0 CTR9 9646 broad.mit.edu 37 11 10787958 10787958 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:10787958G>A uc001mja.3 + 12 1756 c.1607G>A c.(1606-1608)cGc>cAc p.R536H NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 536 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GGCTATTTGCGCCTAGGAGCC 0.308000 59 15 0 0 0.004007 0 0 SLC47A1 55244 broad.mit.edu 37 17 19480675 19480675 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:19480675G>A uc002gvx.3 + 16 1608 c.1522G>A c.(1522-1524)Gat>Aat p.D508N SLC47A1_uc002gvy.1_Missense_Mutation_p.D508N|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Missense_Mutation_p.D206N|SLC47A1_uc010cqq.1_Missense_Mutation_p.D254N|SLC47A1_uc010vza.1_Missense_Mutation_p.D220N|SLC47A1_uc010vzb.1_Missense_Mutation_p.D183N|SLC47A1_uc010vzc.1_Missense_Mutation_p.D180N NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 508 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TTTAACGAACGATGTTGGAAA 0.443000 88 31 0 0 0.009535 0 0 CNKSR3 154043 broad.mit.edu 37 6 154533966 154533966 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:154533966C>T uc021zhc.1 - 18 2363 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.E29K|CNKSR3_uc003qpw.3_Missense_Mutation_p.E159K|CNKSR3_uc003qpx.3_Missense_Mutation_p.E158K|CNKSR3_uc010kjh.3_Missense_Mutation_p.E159K|CNKSR3_uc021zhd.1_Missense_Mutation_p.E203K|CNKSR3_uc021zhe.1_Missense_Mutation_p.E133K NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN Homo sapiens CNKSR family member 3 (CNKSR3), mRNA. 0 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TCTGGATCTTCCTGTTCACTT 0.418000 7 6 0 0 0.001168 0 0 COL5A3 50509 broad.mit.edu 37 19 10092784 10092784 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:10092784C>T uc002mmq.1 - 31 2503 c.2417G>A c.(2416-2418)gGa>gAa p.G806E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 806 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCGGGAAATCCAATAGATCC 0.537000 26 9 0 0 0.006214 0 0 KCNN4 3783 broad.mit.edu 37 19 44276176 44276176 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:44276176G>A uc002oxl.3 - 3 1191 c.795C>T c.(793-795)atC>atT p.I265I NM_002250 NP_002241 O15554 KCNN4_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA. 265 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) ACAGGCAGACGATCTTGCCCC 0.557000 53 23 0 0 0.004656 0 0 STAG3 10734 broad.mit.edu 37 7 99797259 99797259 + Missense_Mutation SNP G C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:99797259G>C uc003utx.1 + 15 1824 c.1669G>C c.(1669-1671)Ggg>Cgg p.G557R STAG3_uc010lgs.1_Missense_Mutation_p.G345R|STAG3_uc011kjk.1_Missense_Mutation_p.G499R|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 557 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGGGTCACTGGGAGGAAGGT 0.582000 13 6 0 0 0.003080 0 0 PRSS36 146547 broad.mit.edu 37 16 31152904 31152904 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:31152904G>A uc002ebd.3 - 11 1846 c.1787C>T c.(1786-1788)cCa>cTa p.P596L PRSS36_uc010vff.2_Missense_Mutation_p.P371L|PRSS36_uc010vfg.2_Missense_Mutation_p.P591L|PRSS36_uc010vfh.2_Missense_Mutation_p.P596L NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 596 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GACCCCCACTGGAGCAGCCTC 0.682000 34 23 0 0 0.014323 0 0 LOC100509575 100509575 broad.mit.edu 37 X 47978993 47978993 + RNA SNP G A A rs77470044 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:47978993G>A uc022bvt.1 + 6 c.616G>A NM_001205103 B7Z813 B7Z813_HUMAN Homo sapiens putative protein SSX6-like (LOC100509575), mRNA. regulation of transcription, DNA-dependent intracellular nucleic acid binding AGAGATCAGCGACCCTGAGGA 0.498000 167 155 0 0 0.014410 0 0 FAM47C 442444 broad.mit.edu 37 X 37029029 37029029 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:37029029C>T uc004ddl.2 + 0 2598 c.2546C>T c.(2545-2547)tCg>tTg p.S849L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 849 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGACACACATCGAGAAAACTC 0.468000 61 39 0 0 0.008740 0 0 DDX41 51428 broad.mit.edu 37 5 176943935 176943935 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176943935C>T uc003mho.3 - 0 33 c.12G>A c.(10-12)tcG>tcA p.S4S DDX41_uc003mhn.3_5'Flank|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA. 4 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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)|Epithelial(233;0.191) GTTCGGGTTCCGACTCCTCCA 0.662000 32 10 0 0 0.008291 0 0 RFFL 117584 broad.mit.edu 37 17 33443910 33443910 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33443910G>A uc010wcd.1 - 2 547 c.291C>T c.(289-291)ttC>ttT p.F97F RFFL_uc002hiq.2_Intron|RFFL_uc002hir.2_Intron|RFFL_uc010wce.1_5'UTR|RFFL_uc002hit.2_Intron|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Intron|RFFL_uc010wcf.1_Intron|RFFL_uc002hiw.1_Non-coding_Transcript|RFFL_uc002hiv.1_Intron|RFFL_uc010ctl.1_Non-coding_Transcript|RFFL_uc010ctm.1_Intron NM_001142571 NP_001136043 Q8WZ73 RFFL_HUMAN Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 6, mRNA. 0 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ctcgttcatcgaaagcattca 0.493000 7 3 0 0 0.004672 0 0 STAB2 55576 broad.mit.edu 37 12 104046342 104046342 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:104046342G>A uc001tjw.3 + 11 1452 c.1266G>A c.(1264-1266)gaG>gaA p.E422E NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 422 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGTAAATGAGCTTTTGGTGG 0.328000 15 9 0 0 0.008291 0 0 POTEC 388468 broad.mit.edu 37 18 14542924 14542924 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:14542924C>T uc010dln.3 - 0 676 c.222G>A c.(220-222)ggG>ggA p.G74G POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 74 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCGTGCCGCTCCCCCTGCAGC 0.567000 236 27 0 0 0.005443 0 0 ASH1L 55870 broad.mit.edu 37 1 155429661 155429661 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:155429661G>A uc009wqq.3 - 3 5493 c.5013C>T c.(5011-5013)tcC>tcT p.S1671S ASH1L_uc001fkt.3_Silent_p.S1671S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 1671 Ser-rich. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGGCCGCTGGGAGGGTTTAT 0.403000 55 27 0 0 0.008361 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063526 48063526 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:48063526C>T uc010bek.3 + 18 3126 c.2766C>T c.(2764-2766)gtC>gtT p.V922V SEMA6D_uc001zvw.3_Silent_p.V860V|SEMA6D_uc001zvy.3_Silent_p.V922V|SEMA6D_uc001zvz.3_Silent_p.V866V|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Silent_p.V860V|SEMA6D_uc001zwc.3_Silent_p.V847V NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA. 922 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CACCTAAAGTCCCTAACCGGG 0.532000 88 26 0 0 0.005443 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047346 75047346 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:75047346G>A uc002ayr.1 + 6 1532 c.1468G>A c.(1468-1470)Gac>Aac p.D490N NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 490 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CGTGAAAGTCGACCTGACCCC 0.602000 73 25 0 0 0.018920 0 0 NFXL1 152518 broad.mit.edu 37 4 47907343 47907343 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:47907343C>T uc010igh.3 - 3 604 c.427G>A c.(427-429)Gag>Aag p.E143K NFXL1_uc003gxp.3_Missense_Mutation_p.E143K|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.E143K NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA. 143 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TTTGTTCGCTCTAATTCACGT 0.348000 56 20 0 0 0.008871 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631965 156631965 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:156631965C>T uc003iov.3 + 6 1184 c.648C>T c.(646-648)ccC>ccT p.P216P GUCY1A3_uc003iou.2_Silent_p.P216P|GUCY1A3_uc010iqc.2_Silent_p.P216P|GUCY1A3_uc010iqd.3_Silent_p.P215P|GUCY1A3_uc003iow.3_Silent_p.P216P|GUCY1A3_uc003iox.3_Silent_p.P216P|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.P216P|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.P216P NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 216 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGATTCTTCCCGGCATCATAA 0.463000 48 22 0 0 0.021523 0 0 RASEF 158158 broad.mit.edu 37 9 85627360 85627360 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:85627360C>T uc004amo.1 - 4 1093 c.832G>A c.(832-834)Gat>Aat p.D278N NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. 278 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm GTP binding|calcium ion binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ATTGATAAATCATAAATTTGT 0.363000 22 6 0 0 0.001984 0 0 ARID4B 51742 broad.mit.edu 37 1 235346091 235346091 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:235346091C>T uc021pks.1 - 19 2520 c.2143G>A c.(2143-2145)Gaa>Aaa p.E715K ARID4B_uc001hwq.3_Missense_Mutation_p.E715K|ARID4B_uc001hwr.3_Missense_Mutation_p.E629K|ARID4B_uc001hws.4_Missense_Mutation_p.E629K|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.E396K NM_001206794 NP_001193723 Q4LE39 ARI4B_HUMAN Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA. 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCACTGTCTTCAGCAGAACTT 0.363000 35 45 0 0 0.014410 0 0 STAC 6769 broad.mit.edu 37 3 36526476 36526476 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:36526476G>A uc003cgh.1 + 3 536 c.497G>A c.(496-498)gGg>gAg p.G166E STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Intron NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 166 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CAGCCAAAGGGGTTTCGGCGT 0.463000 34 14 0 0 0.003163 0 0 CXorf36 79742 broad.mit.edu 37 X 45010966 45010966 + Missense_Mutation SNP C A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:45010966C>A uc004dgg.2 - 4 1308 c.1233G>T c.(1231-1233)agG>agT p.R411S NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA. 411 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 TTCTCAGGGGCCTCAAGATGT 0.532000 52 35 1.22674e-20 1.25723e-20 0.008740 1 0 ATAD2B 54454 broad.mit.edu 37 2 24021187 24021187 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:24021187G>A uc002rek.4 - 18 2757 c.2461C>T c.(2461-2463)Cgt>Tgt p.R821C ATAD2B_uc002rei.4_Missense_Mutation_p.R821C|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA. 821 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAGCTTCACGAAAAATCTAA 0.363000 20 10 0 0 0.008291 0 0 NAV2 89797 broad.mit.edu 37 11 19955584 19955584 + Silent SNP C G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:19955584C>G uc010rdm.2 + 7 2224 c.1863C>G c.(1861-1863)ctC>ctG p.L621L NAV2_uc001mpp.3_Silent_p.L534L|NAV2_uc001mpr.4_Silent_p.L598L|NAV2_uc021qew.1_Silent_p.L598L NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 621 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GCTCAGGACTCCCCCAGCAGA 0.617000 34 17 0 0 0.007413 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418651 105418651 + Missense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:105418651A>C uc010axc.1 - 6 3257 c.3137T>G c.(3136-3138)cTc>cGc p.L1046R AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L946R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1046 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGAATGCTGAGGTCAGTGGT 0.617000 79 55 0 0 0.014410 0 0 ARSA 410 broad.mit.edu 37 22 51065360 51065360 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:51065360G>A uc003bna.4 - 2 590 c.328C>T c.(328-330)Ctg>Ttg p.L110L ARSA_uc021wsd.1_Silent_p.L196L|ARSA_uc021wse.1_Silent_p.L196L|ARSA_uc021wsf.1_Silent_p.L196L|ARSA_uc003bmz.4_Silent_p.L194L|ARSA_uc010hbf.3_3'UTR NM_001085428 NP_001078897 P15289 ARSA_HUMAN Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. 194 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) AGTCCGGGCAGCCAGGGGGGC 0.672000 86 34 0 0 0.013726 0 0 DNAH5 1767 broad.mit.edu 37 5 13839571 13839571 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13839571C>T uc003jfd.2 - 34 5818 c.5776G>A c.(5776-5778)Gaa>Aaa p.E1926K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1926 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TCAGAATCTTCGTTAAAGTAA 0.383000 Kartagener syndrome 50 22 0 0 0.014323 0 0 CYP2S1 29785 broad.mit.edu 37 19 41700509 41700509 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:41700509G>A uc002opw.3 + 1 293 c.238G>A c.(238-240)Gtc>Atc p.V80I CYP2S1_uc010xvx.2_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 80 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GCCTGTGGTGGTCCTGGTTGG 0.627000 39 13 0 0 0.013537 0 0 SPATA21 374955 broad.mit.edu 37 1 16736178 16736178 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:16736178C>T uc001ayn.3 - 5 988 c.505G>A c.(505-507)Ggc>Agc p.G169S SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G146S NM_198546 NP_940948 Q7Z572 SPT21_HUMAN Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA. 169 Pro-rich. calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) AGGGCAGGGCCCAGCAGGACA 0.697000 18 11 0 0 0.016723 0 0 PPM1N 147699 broad.mit.edu 37 19 46003763 46003763 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:46003763G>A uc002pce.3 + 2 1107 c.1107G>A c.(1105-1107)agG>agA p.R369R PPM1N_uc002pcf.3_Silent_p.R51R NM_001080401 NP_001073870 Q8N819 PPM1N_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA. 369 magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 CAGTTTTCAGGACTCTGGCCT 0.582000 16 7 0 0 0.003080 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289353 132289353 + Missense_Mutation SNP C T T rs145934024 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:132289353C>T uc002tta.3 + 3 713 c.661C>T c.(661-663)Cct>Tct p.P221S CCDC74A_uc002ttb.3_Missense_Mutation_p.P155S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P221S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P263S NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 221 p.P221S(2) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGACAAAGTTCCTGGGGTACA 0.577000 22 43 0 0 0.014410 0 0 OR4C13 283092 broad.mit.edu 37 11 49974176 49974176 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49974176G>A uc010rhz.2 + 0 234 c.202G>A c.(202-204)Gat>Aat p.D68N NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTCCTTTATTGATGCCTGCTA 0.438000 174 55 0 0 0.014410 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919569 12919569 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12919569G>A uc001aum.1 + 2 396 c.309G>A c.(307-309)ctG>ctA p.L103L NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 103 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCAAGTGCTGGATTTGCGGG 0.517000 211 101 0 0 0.014410 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11859513 11859513 + Nonsense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:11859513A>C uc002dbk.3 - 12 1749 c.1551T>G c.(1549-1551)taT>taG p.Y517* ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Nonsense_Mutation_p.Y517*|ZC3H7A_uc002dbm.2_Nonsense_Mutation_p.Y427* NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 517 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 AGTGGCCTGAATATCTACATT 0.502000 31 30 0 0 0.008361 0 0 CTU2 348180 broad.mit.edu 37 16 88780099 88780099 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:88780099C>T uc010chz.3 + 8 1179 c.1131C>T c.(1129-1131)ccC>ccT p.P377P CTU2_uc002flm.3_Silent_p.P306P|CTU2_uc002fln.3_Silent_p.P306P|CTU2_uc010cia.3_Silent_p.P219P NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA. 306 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 TGGTGCGGCCCATGCGGGACC 0.647000 70 27 0 0 0.004656 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285397 44285397 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:44285397C>T uc010qfe.1 - 0 469 c.439G>A c.(439-441)Gaa>Aaa p.E147K Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. CCGTACTTTTCAAAGTAGTCT 0.363000 13 15 0 0 0.003163 0 0 NLRC5 84166 broad.mit.edu 37 16 57093400 57093400 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:57093400C>T uc021tiu.1 + 28 4069 c.3942C>T c.(3940-3942)ttC>ttT p.F1314F NLRC5_uc021tiv.1_Silent_p.F1118F|NLRC5_uc021tiw.1_Silent_p.F1088F|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.F201F NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1314 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGCAGAGCTTCCGGATTCACT 0.622000 19 4 0 0 0.009096 0 0 CDH17 1015 broad.mit.edu 37 8 95158288 95158288 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:95158288G>A uc003ygh.2 - 14 2160 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S CDH17_uc011lgo.1_Missense_Mutation_p.P465S|CDH17_uc011lgp.1_Missense_Mutation_p.P679S NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 679 Cadherin 7. integral to membrane calcium ion binding p.P679T(2) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCACTGAGGGGATGGCAGAAG 0.502000 36 11 0 0 0.008291 0 0 MICAL3 57553 broad.mit.edu 37 22 18354649 18354649 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:18354649G>A uc002zng.4 - 16 2735 c.2382C>T c.(2380-2382)tgC>tgT p.C794C MICAL3_uc011agl.2_Silent_p.C794C|MICAL3_uc002znh.2_Silent_p.C794C|MICAL3_uc002znj.1_Silent_p.C522C|MICAL3_uc002znk.1_Silent_p.C794C|MICAL3_uc002znl.1_Silent_p.C427C|MICAL3_uc002znm.3_Silent_p.C295C|MICAL3_uc010grf.3_Silent_p.C918C NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 794 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGGTGGTGGCGCAGTACTCGC 0.607000 9 4 0 0 0.001168 0 0 NEK9 91754 broad.mit.edu 37 14 75587839 75587839 + Nonsense_Mutation SNP T A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:75587839T>A uc001xrl.3 - 2 590 c.436A>T c.(436-438)Aag>Tag p.K146* NM_033116 NP_149107 Q8TD19 NEK9_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA. 146 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TCAAACAACTTGTCCTTCTGA 0.363000 22 12 0 0 0.010729 0 0 BC035867 0 broad.mit.edu 37 22 20977008 20977008 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:20977008G>A uc002zsv.3 - 4 c.1527C>T Homo sapiens, clone IMAGE:5171202, mRNA. TCCCAGGGTCGAGAAATTCCA 0.502000 18 6 0 0 0.001984 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001430 52001430 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52001430C>T uc002pwx.1 - 4 1303 c.1247G>A c.(1246-1248)gGg>gAg p.G416E SIGLEC12_uc002pww.1_Missense_Mutation_p.G298E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G143E NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 416 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding p.W415*(1) NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTCAGGCTCCCCCAGGTCCA 0.622000 52 19 0 0 0.008871 0 0 DECR1 1666 broad.mit.edu 37 8 91057137 91057137 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:91057137C>T uc003yek.1 + 7 940 c.799C>T c.(799-801)Ccc>Tcc p.P267S DECR1_uc011lgc.1_Missense_Mutation_p.P258S|DECR1_uc011lgd.1_Non-coding_Transcript NM_001359 NP_001350 Q16698 DECR_HUMAN Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA. 267 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TGGCAGAATTCCCTGTGGTCG 0.423000 95 30 0 0 0.008361 0 0 MYO18B 84700 broad.mit.edu 37 22 26423626 26423626 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26423626G>A uc003abz.1 + 42 7936 c.7686G>A c.(7684-7686)aaG>aaA p.K2562K MYO18B_uc003aca.1_Silent_p.K2443K|MYO18B_uc010guy.1_Silent_p.K2444K|MYO18B_uc010guz.1_Silent_p.K2442K|MYO18B_uc011aka.1_Silent_p.K1716K|MYO18B_uc011akb.1_Silent_p.K2075K|MYO18B_uc010gva.1_Silent_p.K545K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2562 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCATAATGAAGAAATACCTCC 0.567000 18 7 0 0 0.003080 0 0 AK302879 0 broad.mit.edu 37 15 76074431 76074431 + Missense_Mutation SNP C T T rs149323153 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:76074431C>T uc010umm.1 + 7 610 c.533C>T c.(532-534)tCg>tTg p.S178L DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 58 15 0 0 0.010504 0 0 JAG1 182 broad.mit.edu 37 20 10621857 10621857 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:10621857C>T uc002wnw.2 - 23 3468 c.2952G>A c.(2950-2952)agG>agA p.R984R NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 984 Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TATTCAAATTCCTCAATTCAC 0.393000 Alagille Syndrome 53 17 0 0 0.004007 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64538006 64538006 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:64538006G>A uc003jtp.3 - 14 2672 c.1858C>T c.(1858-1860)Cga>Tga p.R620* ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.R241* NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 620 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGTTTCTCTCGAAAATCTCGG 0.378000 41 28 0 0 0.005443 0 0 ANKRD42 338699 broad.mit.edu 37 11 82951905 82951905 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:82951905A>T uc010rsv.1 + 8 1546 c.1124A>T c.(1123-1125)cAt>cTt p.H375L ANKRD42_uc001ozz.1_Missense_Mutation_p.H347L|ANKRD42_uc001paa.3_Missense_Mutation_p.H375L|ANKRD42_uc001pab.1_Missense_Mutation_p.H374L Q8N9B4 ANR42_HUMAN Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA. 347 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TTTATAAGACATGGTGTTGAG 0.378000 60 26 0 0 0.004656 0 0 ACO2 50 broad.mit.edu 37 22 41895859 41895859 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:41895859C>T uc003bac.3 + 1 188 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_001098 NP_001089 Q99798 ACON_HUMAN Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA. 56 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity p.R56H(1) breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TAACATTGTTCGCAAACGGTA 0.542000 131 64 0 0 0.014410 0 0 KIF4B 285643 broad.mit.edu 37 5 154394176 154394176 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:154394176G>A uc010jih.1 + 0 917 c.757G>A c.(757-759)Gaa>Aaa p.E253K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 253 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACCAAGGCTGAAGGGGATCG 0.428000 61 24 0 0 0.018920 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048421 42048421 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:42048421G>A uc001cgz.4 - 3 3261 c.2048C>T c.(2047-2049)cCa>cTa p.P683L HIVEP3_uc001cha.4_Missense_Mutation_p.P683L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 683 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCAGCTTCTGGAGATGTGTG 0.498000 81 38 0 0 0.008740 0 0 MUC16 94025 broad.mit.edu 37 19 9005651 9005651 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9005651C>T uc002mkp.3 - 45 39959 c.39755G>A c.(39754-39756)aGa>aAa p.R13252K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R69K|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13254 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGCTGTCTGTCTAGCCC 0.592000 92 27 0 0 0.007291 0 0 SCRIB 23513 broad.mit.edu 37 8 144895852 144895852 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144895852G>A uc003yzp.1 - 3 408 c.401C>T c.(400-402)gCc>gTc p.A134V SCRIB_uc003yzo.1_Missense_Mutation_p.A134V|MIR937_uc022bck.1_5'Flank NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 134 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATCATTCAGGGCCAGGTGAGC 0.642000 30 17 0 0 0.007413 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367213 234367213 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:234367213G>A uc001hvy.1 + 2 479 c.334G>A c.(334-336)Gcc>Acc p.A112T SLC35F3_uc001hwa.1_Missense_Mutation_p.A43T NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 43 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCAGGCACCGGCCGGGGTGGA 0.736000 31 16 0 0 0.007413 0 0 TCRBV15S1 0 broad.mit.edu 37 7 142364537 142364537 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:142364537C>T uc003vzx.3 + 1 206 c.172C>T c.(172-174)Cca>Tca p.P58S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; TCGACAAGACCCAGGACTGGG 0.453000 24 6 0 0 0.001984 0 0 KRT16 3868 broad.mit.edu 37 17 39767645 39767645 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39767645G>A uc002hxg.4 - 2 862 c.723C>T c.(721-723)atC>atT p.I241I JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 241 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TCAGGCCTTCGATCTGCATCT 0.637000 77 51 0 0 0.014410 0 0 PRPF8 10594 broad.mit.edu 37 17 1558786 1558786 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:1558786G>A uc002fte.3 - 36 5959 c.5845C>T c.(5845-5847)Cgg>Tgg p.R1949W NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1949 Involved in interaction with pre-mRNA 5' splice site. U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ACTTTTGCCCGATCGTTGTTC 0.517000 46 70 0 0 0.014410 0 0 TGM6 343641 broad.mit.edu 37 20 2375937 2375937 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2375937G>A uc002wfy.1 + 2 340 c.279G>A c.(277-279)atG>atA p.M93I TGM6_uc010gal.1_Missense_Mutation_p.M93I NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 93 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGGCTCAGATGGAGAAAACTC 0.612000 31 17 0 0 0.004007 0 0 C21orf59 56683 broad.mit.edu 37 21 33982302 33982302 + Silent SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:33982302T>C uc002ypy.2 - 1 518 c.153A>G c.(151-153)ttA>ttG p.L51L C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Silent_p.L51L|C21orf59_uc002yqc.3_Silent_p.L51L|C21orf59_uc010glx.3_5'UTR|C21orf59_uc002yqb.4_Silent_p.L51L|C21orf59_uc011adr.2_Intron NM_021254 NP_067077 P57076 CU059_HUMAN Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA. 51 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 CATGTTCGGCTAATTCTTCCA 0.403000 26 15 0 0 0.004007 0 0 PPARA 5465 broad.mit.edu 37 22 46614265 46614265 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:46614265C>T uc003bhb.1 + 3 598 c.475C>T c.(475-477)Cac>Tac p.H159Y PPARA_uc003bgw.1_Missense_Mutation_p.H159Y|PPARA_uc003bgx.1_Missense_Mutation_p.H159Y|PPARA_uc010hab.1_Missense_Mutation_p.H159Y|PPARA_uc003bha.3_Missense_Mutation_p.H159Y|PPARA_uc010hac.1_Silent_p.F23F NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 159 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TTGTCGATTTCACAAGTGCCT 0.498000 109 60 0 0 0.014410 0 0 TRPM1 4308 broad.mit.edu 37 15 31294925 31294925 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:31294925G>A uc021sia.1 - 26 4343 c.4029C>T c.(4027-4029)ttC>ttT p.F1343F TRPM1_uc010azy.3_Silent_p.F1211F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1326F|TRPM1_uc001zfm.3_Silent_p.F1304F NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 1304 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCTTTATACGGAAGGAACAGG 0.453000 78 26 0 0 0.005443 0 0 MRPS28 28957 broad.mit.edu 37 8 80831226 80831226 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:80831226G>A uc003ybp.3 - 2 576 c.553C>T c.(553-555)Cat>Tat p.H185Y TPD52_uc010lzr.3_Non-coding_Transcript NM_014018 NP_054737 Q9Y2Q9 RT28_HUMAN Homo sapiens mitochondrial ribosomal protein S28 (MRPS28), nuclear gene encoding mitochondrial protein, mRNA. 185 mitochondrial small ribosomal subunit endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) TATTTTTCATGATGTTCTTCT 0.363000 55 30 0 0 0.019004 0 0 SACS 26278 broad.mit.edu 37 13 23906647 23906647 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23906647G>A uc001uon.2 - 9 11957 c.11368C>T c.(11368-11370)Cag>Tag p.Q3790* SACS_uc001uoo.2_Nonsense_Mutation_p.Q3643*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3790 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCTCGCAACTGAAAACGAAAT 0.383000 39 18 0 0 0.007413 0 0 NBEA 26960 broad.mit.edu 37 13 35684971 35684971 + Missense_Mutation SNP T A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:35684971T>A uc021rid.1 + 12 2392 c.1858T>A c.(1858-1860)Ttg>Atg p.L620M NBEA_uc021ric.1_Missense_Mutation_p.L620M NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 620 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATACACATATTTGTCTGCTGA 0.333000 22 7 0 0 0.003080 0 0 SGCG 6445 broad.mit.edu 37 13 23808834 23808834 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23808834G>A uc001uom.2 + 2 435 c.280G>A c.(280-282)Gaa>Aaa p.E94K SGCG_uc009zzv.2_Missense_Mutation_p.E94K|SGCG_uc009zzw.2_Missense_Mutation_p.E94K NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 94 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GTATGCCAAAGAAATACACTC 0.333000 60 22 0 0 0.016522 0 0 COL21A1 81578 broad.mit.edu 37 6 55932118 55932118 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:55932118C>T uc003pcs.3 - 22 2334 c.2102G>A c.(2101-2103)gGa>gAa p.G701E COL21A1_uc010jzz.3_Missense_Mutation_p.G86E|COL21A1_uc011dxg.2_Intron|COL21A1_uc011dxh.2_Missense_Mutation_p.G86E|COL21A1_uc003pcr.3_Missense_Mutation_p.E59K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 701 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTTGATTTCCTTTGTCCCC 0.299000 32 12 0 0 0.016723 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455134 187455134 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:187455134C>T uc003izd.1 - 1 780 c.762G>A c.(760-762)ctG>ctA p.L254L NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 254 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CAATGAAGTTCAGAGGAGCCC 0.507000 31 47 0 0 0.010771 0 0 LPAR2 9170 broad.mit.edu 37 19 19737823 19737823 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:19737823G>A uc002nnb.4 - 1 410 c.271C>T c.(271-273)Cac>Tac p.H91Y LPAR2_uc002nna.4_Missense_Mutation_p.H91Y|LPAR2_uc002nnc.4_Missense_Mutation_p.H91Y NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA. 91 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GGACCAGTGTGGAACATGAGG 0.652000 13 3 0 0 0.009096 0 0 ZNF831 128611 broad.mit.edu 37 20 57768949 57768949 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:57768949G>A uc002yan.3 + 0 2875 c.2875G>A c.(2875-2877)Gga>Aga p.G959R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 959 intracellular nucleic acid binding|zinc ion binding p.W958C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CATTCCCTGGGGACCAAGGCA 0.592000 93 24 0 0 0.006320 0 0 FAM110B 90362 broad.mit.edu 37 8 59058929 59058929 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:59058929G>A uc022auu.1 + 0 140 c.140G>A c.(139-141)aGg>aAg p.R47K FAM110B_uc003xtj.1_Missense_Mutation_p.R47K NM_147189 NP_671722 Q8TC76 F110B_HUMAN Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA. 47 microtubule organizing center|mitochondrion|nucleus p.K46K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) AACCCCAAGAGGCTCAGCGCC 0.672000 24 10 0 0 0.008291 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915878 39915878 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:39915878G>A uc010xuz.2 + 18 4430 c.4105G>A c.(4105-4107)Gaa>Aaa p.E1369K PLEKHG2_uc010xuy.2_Splice_Site_p.R1191_splice|PLEKHG2_uc002olj.3_Splice_Site_p.E560_splice|PLEKHG2_uc010xva.2_Missense_Mutation_p.E1147K NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 1369 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCCACACAGGAATCTATGGG 0.632000 34 12 0 0 0.013537 0 0 LRRC47 57470 broad.mit.edu 37 1 3699293 3699293 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:3699293G>A uc001akx.1 - 4 1373 c.1345C>T c.(1345-1347)Ccg>Tcg p.P449S NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA. 449 translation RNA binding|phenylalanine-tRNA ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) ACAAGACACGGGTAATTTTCA 0.443000 74 28 0 0 0.007291 0 0 C6orf118 168090 broad.mit.edu 37 6 165706919 165706919 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:165706919G>A uc003qum.4 - 5 1139 c.1103C>T c.(1102-1104)tCt>tTt p.S368F C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 368 p.Q367Q(1) 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) TTCCTTTGCAGACTGCAGCAA 0.453000 72 46 0 0 0.014410 0 0 ARID1B 57492 broad.mit.edu 37 6 157527627 157527627 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:157527627C>T uc003qqp.3 + 18 5313 c.5313C>T c.(5311-5313)ttC>ttT p.F1771F ARID1B_uc003qqo.3_Silent_p.F1784F|ARID1B_uc003qqn.3_Silent_p.F1824F NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1771 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCAGTAAGTTCGACAAGCTGC 0.512000 44 51 0 0 0.014410 0 0 GLYAT 10249 broad.mit.edu 37 11 58491920 58491920 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:58491920G>A uc001nnb.3 - 1 205 c.50C>T c.(49-51)tCc>tTc p.S17F GLYAT_uc001nnc.3_Missense_Mutation_p.S17F NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 17 S -> T (in dbSNP:rs10896818). acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CTTCCTCAAGGATTTCTCCAG 0.448000 120 40 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 68965427 68965427 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:68965427G>A uc003xxv.1 + 8 1066 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K PREX2_uc003xxu.1_Missense_Mutation_p.E347K|PREX2_uc011lez.1_Missense_Mutation_p.E282K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 347 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAAAACACCTGAAGAGAAGCA 0.388000 40 17 0 0 0.004990 0 0 DNAH7 56171 broad.mit.edu 37 2 196746717 196746717 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:196746717C>T uc002utj.4 - 36 5865 c.5764_splice c.e36-1 p.G1922_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1922 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 TTCCTATTCCCTGTTTATAAT 0.338000 15 8 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9083906 9083906 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9083906C>T uc002mkp.3 - 0 8113 c.7909G>A c.(7909-7911)Gga>Aga p.G2637R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2637 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGAAGCTCCAGACAGAGTC 0.478000 26 8 0 0 0.003080 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904374 73904374 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:73904374C>T uc011dyh.2 + 14 2440 c.2093C>T c.(2092-2094)tCa>tTa p.S698L KCNQ5_uc011dyi.2_Missense_Mutation_p.S689L|KCNQ5_uc010kat.3_Missense_Mutation_p.S670L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S679L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S569L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S429L NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 679 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTATCCAGATCAACTAGTGCC 0.478000 44 47 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179444756 179444756 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179444756C>T uc021vsy.1 - 266 59779 c.59554G>A c.(59554-59556)Gag>Aag p.E19852K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13547K|TTN_uc021vta.1_Missense_Mutation_p.E13480K|TTN_uc021vtb.1_Missense_Mutation_p.E13355K|AX746670_uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20779 Ig-like 110. 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) GATTTTCCCTCCTCCAAATTA 0.438000 99 47 0 0 0.014410 0 0 ABCD3 5825 broad.mit.edu 37 1 94956753 94956754 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:94956753_94956754CC>TT uc010oto.2 + 16 1510_1511 c.1408_1409CC>TT c.(1408-1410)cct>TTt p.P470F ABCD3_uc001dqn.4_Missense_Mutation_p.P446F|ABCD3_uc010otp.2_Missense_Mutation_p.P373F|ABCD3_uc009wdr.3_Missense_Mutation_p.P336F|ABCD3_uc001dqo.4_Missense_Mutation_p.P134F NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 446 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TGATCATGTTCCTTTAGCAACG 0.267000 30 15 0 0 0.004672 0 0 MYO3B 140469 broad.mit.edu 37 2 171371487 171371487 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:171371487G>A uc002ufy.3 + 28 3570 c.3427G>A c.(3427-3429)Gga>Aga p.G1143R MYO3B_uc002ufv.3_Missense_Mutation_p.G1130R|MYO3B_uc010fqb.1_Missense_Mutation_p.G1143R|MYO3B_uc002ufz.3_Missense_Mutation_p.G1116R|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 1143 response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AGGTACGAGGGGAAGTGCCGA 0.502000 38 16 0 0 0.006122 0 0 UIMC1 51720 broad.mit.edu 37 5 176396036 176396036 + Silent SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176396036A>G uc021yil.1 - 5 887 c.720T>C c.(718-720)ggT>ggC p.G240G UIMC1_uc021yim.1_Silent_p.G240G|UIMC1_uc021yin.1_Silent_p.G240G|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA. 240 G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex K63-linked polyubiquitin binding|histone binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAAAGCAGAACCCCTCCCAG 0.527000 77 44 0 0 0.014410 0 0 DTX1 1840 broad.mit.edu 37 12 113496249 113496249 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:113496249G>A uc001tuk.1 + 0 588 c.252G>A c.(250-252)caG>caA p.Q84Q NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 84 WWE 1. Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGTTTCGCCAGGACACAGGTG 0.612000 41 31 0 0 0.009535 0 0 TNR 7143 broad.mit.edu 37 1 175328850 175328850 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:175328850C>T uc001gkp.1 - 12 2953 c.2872G>A c.(2872-2874)Gat>Aat p.D958N TNR_uc009wwu.1_Missense_Mutation_p.D958N NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 958 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAATCAGATCCACAGGGTTG 0.463000 26 24 0 0 0.004656 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A G G rs141732548 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:14414855A>G uc002yiy.3 + 1 c.292A>G ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. GCCAATGGCCATGCAGAAGTA 0.448000 62 7 0 0 0.004482 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417482 150417482 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150417482G>A uc003whq.3 + 2 530 c.390G>A c.(388-390)caG>caA p.Q130Q GIMAP1-GIMAP5_uc022apw.1_Silent_p.Q130Q NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. AGGACCAGCAGGCGGTGAGGC 0.657000 43 19 0 0 0.006122 0 0 MPP7 143098 broad.mit.edu 37 10 28409259 28409259 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:28409259C>T uc001iua.1 - 11 1155 c.751G>A c.(751-753)Gaa>Aaa p.E251K MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E251K|MPP7_uc009xla.2_Missense_Mutation_p.E251K|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 251 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGCCCAGCTTCCTTACATGGA 0.383000 72 15 0 0 0.004990 0 0 UGT1A1 54658 broad.mit.edu 37 2 234680923 234680923 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:234680923C>T uc002vuw.3 + 4 1323 c.1323C>T c.(1321-1323)atC>atT p.I441I UGT1A1_uc002vup.3_Silent_p.I437I|UGT1A1_uc002vur.3_Silent_p.I437I|UGT1A1_uc002vus.3_Silent_p.I437I|UGT1A1_uc002vut.3_Silent_p.I437I|UGT1A1_uc002vuu.3_Silent_p.I172I|UGT1A1_uc002vuv.4_Silent_p.I439I|UGT1A1_uc002vux.3_Silent_p.I441I|UGT1A1_uc002vuy.3_Silent_p.I441I|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.I440I NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 440 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AGGAGAACATCATGCGCCTCT 0.537000 37 8 0 0 0.003080 0 0 LEMD3 23592 broad.mit.edu 37 12 65634721 65634721 + Missense_Mutation SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:65634721T>C uc001ssl.2 + 8 2185 c.2159T>C c.(2158-2160)gTt>gCt p.V720A LEMD3_uc009zqo.2_Missense_Mutation_p.V719A NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA. 720 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GATAGAGCTGTTGACTTCCTT 0.408000 15 18 0 0 0.008871 0 0 NLRP11 204801 broad.mit.edu 37 19 56321367 56321367 + Silent SNP G A A rs149856648 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:56321367G>A uc010ygf.2 - 4 1320 c.609C>T c.(607-609)atC>atT p.I203I NLRP11_uc002qlz.3_Silent_p.I104I|NLRP11_uc002qmb.3_Silent_p.I104I|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 203 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AGTCCTTGGCGATTAGCTCAG 0.512000 27 17 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9064452 9064452 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9064452G>A uc002mkp.3 - 2 23198 c.22994C>T c.(22993-22995)tCc>tTc p.S7665F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7667 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCCCATGGAAGTGGTCAT 0.522000 30 13 0 0 0.013537 0 0 FPR3 2359 broad.mit.edu 37 19 52327420 52327420 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52327420G>A uc002pxt.1 + 1 603 c.419G>A c.(418-420)aGt>aAt p.S140N FPR3_uc021uyq.1_Missense_Mutation_p.S140N NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 140 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CGCACCATGAGTCTGGCCAAG 0.488000 34 19 0 0 0.008871 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672569 3672569 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:3672569G>A uc002wja.3 - 15 4311 c.4311C>T c.(4309-4311)atC>atT p.I1437I SIGLEC1_uc002wiz.4_Silent_p.I1437I|SIGLEC1_uc002wjb.1_Silent_p.I76I NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 1437 Ig-like C2-type 14. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCAACCGCCCGATGGTGCTGA 0.592000 81 18 0 0 0.008871 0 0 FAM5B 57795 broad.mit.edu 37 1 177250510 177250510 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:177250510C>T uc001glf.3 + 7 2510 c.2198C>T c.(2197-2199)cCt>cTt p.P733L FAM5B_uc001glg.3_Missense_Mutation_p.P628L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 733 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTTTCTCCACCTGGCAAAGTC 0.542000 88 24 0 0 0.018920 0 0 POF1B 79983 broad.mit.edu 37 X 84634306 84634306 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:84634306C>T uc004eer.2 - 1 300 c.154G>A c.(154-156)Gtg>Atg p.V52M POF1B_uc004ees.3_Missense_Mutation_p.V52M NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 52 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TAGGTCCTCACTCGCTCATAC 0.567000 17 10 0 0 0.008291 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558700 113558700 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:113558700C>T uc010ljy.1 - 0 383 c.352G>A c.(352-354)Gat>Aat p.D118N NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 118 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 TGCATAAGATCTTCTTTTGAA 0.393000 36 15 0 0 0.003163 0 0 DHX36 170506 broad.mit.edu 37 3 154042118 154042118 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:154042118G>A uc003ezy.4 - 0 169 c.88C>T c.(88-90)Cat>Tat p.H30Y DHX36_uc010hvq.3_Missense_Mutation_p.H30Y|DHX36_uc003ezz.4_Missense_Mutation_p.H30Y NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 30 Gly-rich. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTACCTCCATGACCCCCTGCT 0.697000 17 10 0 0 0.008291 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105204 75105204 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:75105204G>A uc002ayt.1 + 0 11 c.9G>A c.(7-9)gcG>gcA p.A3A LMAN1L_uc010bkd.2_Splice_Site|LMAN1L_uc010ulo.1_Splice_Site|LMAN1L_uc010bke.1_Silent_p.A3A NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 3 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGATGCCGGCGGTCAGTGGTC 0.647000 57 45 0 0 0.013114 0 0 KRT12 3859 broad.mit.edu 37 17 39019761 39019761 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39019761G>A uc002hvk.2 - 4 1095 c.1071C>T c.(1069-1071)atC>atT p.I357I NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 357 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ACTGTAGCTCGATCTCCAGGT 0.552000 36 13 0 0 0.020292 0 0 C1orf173 127254 broad.mit.edu 37 1 75038269 75038269 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:75038269C>T uc001dgg.3 - 13 3344 c.3125G>A c.(3124-3126)aGg>aAg p.R1042K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1042 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATCATCTTCCCTATTAGCTTC 0.468000 139 42 0 0 0.010771 0 0 INPP5B 3633 broad.mit.edu 37 1 38343860 38343860 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:38343860C>T uc001ccf.1 - 10 1222 c.1185_splice c.e10+1 p.G395_splice INPP5B_uc009vvk.1_Splice_Site_p.G500_splice|INPP5B_uc001ccg.1_Splice_Site_p.G559_splice|INPP5B_uc010oij.1_Splice_Site NM_005540 NP_005531 P32019 I5P2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA. 639 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGCCACCTACCCCGATGTCAA 0.483000 67 16 0 0 0.003163 0 0 TRRAP 8295 broad.mit.edu 37 7 98609157 98609157 + Splice_Site SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:98609157A>G uc003upp.3 + 71 11504 c.11295_splice c.e71+1 p.K3765_splice TRRAP_uc011kis.2_Splice_Site_p.K3736_splice|TRRAP_uc003upr.3_Splice_Site_p.K3471_splice|TRRAP_uc003ups.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3765 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCAAACTTTAAGGTGGGTCTC 0.622000 53 11 0 0 0.008291 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830144 7830144 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:7830144C>T uc010dvt.3 + 2 322 c.204C>T c.(202-204)atC>atT p.I68I CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.I68I|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.I67I|CLEC4M_uc010xjx.2_Silent_p.I40I|CLEC4M_uc002mhz.3_Silent_p.I68I|CLEC4M_uc002mic.3_Silent_p.I40I|CLEC4M_uc002mia.3_Intron NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 68 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TGGTGGCCATCCTTGTCCAAG 0.622000 71 35 0 0 0.017118 0 0 CNTN5 53942 broad.mit.edu 37 11 100168359 100168359 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:100168359C>T uc001pga.3 + 18 2821 c.2317C>T c.(2317-2319)Ccg>Tcg p.P773S CNTN5_uc001pfz.3_Missense_Mutation_p.P773S|CNTN5_uc021qpb.1_Missense_Mutation_p.P773S|CNTN5_uc021qpc.1_Missense_Mutation_p.P699S|CNTN5_uc010ruk.2_Missense_Mutation_p.P44S NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 773 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCCACAGTTCCGAAGACAGC 0.423000 9 3 0 0 0.004672 0 0 OR2L13 284521 broad.mit.edu 37 1 248263173 248263173 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:248263173C>T uc001ids.3 + 2 833 c.496C>T c.(496-498)Ccc>Tcc p.P166S OR2L13_uc021pmc.1_Missense_Mutation_p.P166S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTCATATTCCCTACTGCAG 0.458000 119 167 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76423064 76423064 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:76423064C>T uc010dhp.2 - 77 12839 c.12714G>A c.(12712-12714)atG>atA p.M4238I DNAH17_uc002jvq.3_Missense_Mutation_p.M523I|DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCAGGATGTTCATTCTTTCAC 0.542000 20 6 0 0 0.003080 0 0 C2orf71 388939 broad.mit.edu 37 2 29293979 29293979 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:29293979G>A uc002rmt.2 - 0 3149 c.3149C>T c.(3148-3150)cCa>cTa p.P1050L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 1050 Pro-rich. response to stimulus|visual perception photoreceptor outer segment p.S1049F(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTGGTGCGGTGGGGAAGTTCG 0.682000 43 24 0 0 0.021523 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795706 69795706 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:69795706C>T uc003hef.2 - 5 1440 c.1409G>A c.(1408-1410)gGa>gAa p.G470E UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 470 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTGCTTGGCTCCTTTGTGGCG 0.488000 80 26 0 0 0.006320 0 0 LRRN1 57633 broad.mit.edu 37 3 3887668 3887668 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:3887668G>A uc003bpt.4 + 1 2104 c.1343G>A c.(1342-1344)cGa>cAa p.R448Q SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.R448Q NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 448 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CTAGACTGTCGAGCCATGGCT 0.453000 51 22 0 0 0.010504 0 0 MAPRE2 10982 broad.mit.edu 37 18 32677441 32677441 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:32677441C>T uc002kyg.3 + 2 462 c.282C>T c.(280-282)ctC>ctT p.L94L MAPRE2_uc010xcb.2_Silent_p.L51L|MAPRE2_uc010xcc.2_Silent_p.L82L|MAPRE2_uc002kyf.2_Silent_p.L94L|MAPRE2_uc002kyh.3_Silent_p.L41L|MAPRE2_uc010xcd.2_Silent_p.L51L NM_014268 NP_001137298 Q15555 MARE2_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA. 94 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 TGGACATGCTCTTCCCTGGCT 0.418000 65 30 0 0 0.010818 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970012 161970012 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:161970012C>T uc010pkq.2 - 4 1267 c.843G>A c.(841-843)caG>caA p.Q281Q OLFML2B_uc001gbu.3_Silent_p.Q280Q NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 280 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGACCTGCCTCTGCAGGGGCC 0.592000 53 32 0 0 0.017118 0 0 DNAJB13 374407 broad.mit.edu 37 11 73681067 73681067 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:73681067A>G uc001ouo.3 + 7 1610 c.859A>G c.(859-861)Aaa>Gaa p.K287E NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 287 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) CCCCACTAAGAAAGGGGATCT 0.547000 120 50 0 0 0.014410 0 0 ZNF516 9658 broad.mit.edu 37 18 74154876 74154876 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:74154876G>A uc021ulp.1 - 2 453 c.135C>T c.(133-135)ttC>ttT p.F45F NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCGAGCTCTGGAAGGGGAAGC 0.662000 17 15 0 0 0.004990 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703610 60703610 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:60703610C>T uc001nqi.3 + 10 2499 c.2306C>T c.(2305-2307)cCt>cTt p.P769L TMEM132A_uc001nqj.3_Missense_Mutation_p.P768L NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 768 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GGGCTGCCCCCTGCCTCCACT 0.721000 22 14 0 0 0.020292 0 0 PM20D1 148811 broad.mit.edu 37 1 205819130 205819130 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:205819130C>T uc001hdj.3 - 0 147 c.71G>A c.(70-72)aGa>aAa p.R24K PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 24 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GCCCATCGATCTGGAGACGGT 0.597000 62 39 0 0 0.011902 0 0 CCBE1 147372 broad.mit.edu 37 18 57103301 57103301 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:57103301C>T uc002lib.3 - 10 1130 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K CCBE1_uc010dpq.3_Missense_Mutation_p.E83K|CCBE1_uc002lia.3_Missense_Mutation_p.E207K NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 354 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) AACACCTTTTCCTGCAGCTCA 0.537000 104 32 0 0 0.019004 0 0 PSG3 5671 broad.mit.edu 37 19 43233381 43233381 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:43233381G>A uc002oue.3 - 4 1269 c.1137C>T c.(1135-1137)ctC>ctT p.L379L PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L379L NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 379 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGGGGATAAAGAGCTTTTGTC 0.463000 190 79 0 0 0.014410 0 0 NAT8B 51471 broad.mit.edu 37 2 73928207 73928207 + Missense_Mutation SNP A G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:73928207A>G uc002sjk.1 - 1 258 c.223T>C c.(223-225)Ttc>Ctc p.F75L NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA. 76 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity TTGGCAAGGAACCACAGGGCA 0.557000 50 19 0 0 0.006122 0 0 PRR23B 389151 broad.mit.edu 37 3 138739084 138739084 + Silent SNP T C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:138739084T>C uc003esy.1 - 0 685 c.420A>G c.(418-420)gaA>gaG p.E140E NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 140 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGCGCAGAATTCCAGCTCGA 0.662000 43 14 0 0 0.020292 0 0 C6 729 broad.mit.edu 37 5 41195920 41195920 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:41195920G>A uc003jmk.2 - 4 771 c.561C>T c.(559-561)atC>atT p.I187I C6_uc003jml.1_Silent_p.I187I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 187 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.P186P(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTACACTAGGGATGGGATTAT 0.428000 63 25 0 0 0.006320 0 0 EHD3 30845 broad.mit.edu 37 2 31472268 31472268 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31472268C>T uc002rnu.3 + 2 1044 c.436C>T c.(436-438)Ctg>Ttg p.L146L EHD3_uc010ymt.2_Silent_p.L146L NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 146 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TAACCCTGTGCTGGAGAGCAT 0.597000 35 14 0 0 0.003163 0 0 RLTPR 146206 broad.mit.edu 37 16 67681857 67681857 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:67681857G>A uc002etn.3 + 12 1187 c.1067G>A c.(1066-1068)aGt>aAt p.S356N RLTPR_uc010cel.1_Missense_Mutation_p.S356N|RLTPR_uc010vjr.2_Missense_Mutation_p.S356N NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 356 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TCCGAGGACAGTGGGGTGAGT 0.672000 13 14 0 0 0.004007 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707649 96707649 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:96707649G>A uc001kka.4 + 3 620 c.595G>A c.(595-597)Gaa>Aaa p.E199K CYP2C9_uc009xut.3_Missense_Mutation_p.E199K NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 199 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAACTTAATGGAAAAGTTGAA 0.383000 37 22 0 0 0.014323 0 0 KEL 3792 broad.mit.edu 37 7 142643320 142643320 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:142643320C>T uc003wcb.3 - 10 1498 c.1288G>A c.(1288-1290)Gcc>Acc p.A430T NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 430 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGGCCAAAGGCCTCACGAACA 0.582000 36 9 0 0 0.006214 0 0 SCN4A 6329 broad.mit.edu 37 17 62018401 62018401 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62018401C>T uc002jds.1 - 23 5318 c.5241G>A c.(5239-5241)atG>atA p.M1747I NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1747 IQ. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ATGCCTGCTTCATGGAGCGCT 0.617000 72 34 0 0 0.021022 0 0 APOB 338 broad.mit.edu 37 2 21225676 21225676 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21225676C>T uc002red.3 - 28 12746 c.12618G>A c.(12616-12618)ggG>ggA p.G4206G NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4206 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G4206G(2) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCCAGGTTTCCCCGGAAACT 0.438000 363 155 0 0 0.014410 0 0 ZNF165 7718 broad.mit.edu 37 6 28057240 28057240 + Missense_Mutation SNP T A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:28057240T>A uc021yro.1 + 3 2277 c.1450T>A c.(1450-1452)Tta>Ata p.L484I ZNF165_uc003nkh.3_Missense_Mutation_p.L484I|ZNF165_uc003nki.4_Missense_Mutation_p.L484I|ZSCAN12P1_uc003nkj.4_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 484 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAAAACCTATTAATGTAAGG 0.353000 29 15 0 0 0.003163 0 0 CRHBP 1393 broad.mit.edu 37 5 76251650 76251650 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:76251650G>A uc003ker.3 + 3 786 c.506G>A c.(505-507)gGa>gAa p.G169E CRHBP_uc010izx.3_Missense_Mutation_p.G169E NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 169 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CCAGGAAATGGATTCACATTA 0.443000 236 113 0 0 0.014410 0 0 MNDA 4332 broad.mit.edu 37 1 158815488 158815488 + Missense_Mutation SNP C G G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:158815488C>G uc001fsz.1 + 4 882 c.682C>G c.(682-684)Cca>Gca p.P228A NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 228 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.P228Q(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) ATACGAGTCCCCAGAAAATGG 0.448000 28 21 0 0 0.016522 0 0 EOMES 8320 broad.mit.edu 37 3 27758863 27758863 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:27758863C>T uc003cdy.3 - 5 1816 c.1816G>A c.(1816-1818)Gct>Act p.A606T EOMES_uc003cdx.3_Missense_Mutation_p.A587T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.A311T NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 587 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 GGTAGTCCAGCTGCCATCTTC 0.532000 36 17 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13885137 13885137 + Missense_Mutation SNP G A A rs143673459 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13885137G>A uc003jfd.2 - 18 2986 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 982 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R982H(2) 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) ATACGTTTGCGAATGGCCTCT 0.438000 Kartagener syndrome 46 25 0 0 0.021523 0 0 SLC12A4 6560 broad.mit.edu 37 16 67991822 67991822 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:67991822G>A uc010vkj.1 - 2 514 c.474C>T c.(472-474)atC>atT p.I158I SLC12A4_uc010ceu.2_Silent_p.I150I|SLC12A4_uc010vkh.1_Silent_p.I125I|SLC12A4_uc002euz.2_Silent_p.I156I|SLC12A4_uc010vki.1_Silent_p.I156I|SLC12A4_uc002eva.2_Silent_p.I156I|SLC12A4_uc002evb.2_Intron|SLC12A4_uc010cew.1_Silent_p.I39I NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 156 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity p.L158F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGATAAGCACGATGAGGAGGG 0.632000 38 11 0 0 0.008291 0 0 CYBA 1535 broad.mit.edu 37 16 88713214 88713214 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:88713214A>T uc002flb.3 - 3 272 c.236T>A c.(235-237)cTg>cAg p.L79Q CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Missense_Mutation_p.L79Q|CYBA_uc010chx.1_Missense_Mutation_p.L79Q NM_000101 NP_000092 P13498 CY24A_HUMAN Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. 79 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGGCCCGAACAGCTTCACCAC 0.652000 49 23 0 0 0.021523 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799733 159799733 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:159799733C>T uc001fue.4 + 1 328 c.118C>T c.(118-120)Ccc>Tcc p.P40S NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 40 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GGCAGCGCGTCCCCCTGGCTT 0.597000 137 128 0 0 0.014410 0 0 OR52B4 143496 broad.mit.edu 37 11 4389432 4389432 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4389432G>A uc010qye.2 - 0 185 c.94C>T c.(94-96)Cca>Tca p.P32S NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATGGGATAGAAATC 0.517000 17 12 0 0 0.020292 0 0 FGF12 2257 broad.mit.edu 37 3 191888297 191888297 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:191888297C>T uc003fsx.3 - 3 1389 c.563G>A c.(562-564)aGa>aAa p.R188K FGF12_uc003fsy.3_Missense_Mutation_p.R126K NM_021032 NP_066360 P61328 FGF12_HUMAN Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA. 188 JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTTCTTCACTCTGTTCCCCTT 0.428000 108 39 0 0 0.005524 0 0 ADCY8 114 broad.mit.edu 37 8 131812690 131812690 + Silent SNP G A A rs142352284 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:131812690G>A uc003ytd.4 - 14 3298 c.3042C>T c.(3040-3042)atC>atT p.I1014I ADCY8_uc010mds.3_Silent_p.I883I NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1014 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTCAGCAATGATCTCATTGA 0.428000 HNSCC(32;0.087) 76 25 0 0 0.021523 0 0 ITGA6 3655 broad.mit.edu 37 2 173334104 173334104 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:173334104G>A uc002uhp.1 + 3 842 c.639G>A c.(637-639)tgG>tgA p.W213* ITGA6_uc010fqk.1_Nonsense_Mutation_p.W99*|ITGA6_uc010zdy.1_Nonsense_Mutation_p.W99*|ITGA6_uc002uho.1_Nonsense_Mutation_p.W213*|ITGA6_uc010fql.2_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA. 213 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CTTATAACTGGAAAGGTATGA 0.358000 36 19 0 0 0.010504 0 0 COL5A2 1290 broad.mit.edu 37 2 189929782 189929782 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:189929782C>T uc002uqk.3 - 24 1839 c.1564_splice c.e24-1 p.G522_splice COL5A2_uc010frx.3_Splice_Site_p.G98_splice NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 522 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCCAGGAGCACCCTACAAATG 0.403000 18 6 0 0 0.001984 0 0 BCL9L 283149 broad.mit.edu 37 11 118773103 118773104 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:118773103_118773104GG>AA uc001pug.3 - 5 2313_2314 c.1348_1349CC>TT c.(1348-1350)ccc>TTc p.P450F BCL9L_uc009zal.3_Missense_Mutation_p.P445F NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 450 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CTGCTGGGGGGGAGGGGGGGCT 0.673000 12 16 0 0 0.004672 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805812 44805812 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:44805812C>T uc003tlr.3 + 16 2415 c.2292C>T c.(2290-2292)acC>acT p.T764T ZMIZ2_uc003tlq.3_Silent_p.T706T|ZMIZ2_uc003tls.3_Silent_p.T738T|ZMIZ2_uc003tlt.3_Silent_p.T387T|ZMIZ2_uc010kyj.3_Silent_p.T286T|ZMIZ2_uc003tlu.3_Silent_p.T45T|ZMIZ2_uc010kyk.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 764 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCCCACCCACCACGCCCAGCA 0.632000 59 14 0 0 0.020292 0 0 AMPH 273 broad.mit.edu 37 7 38433666 38433666 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:38433666G>A uc003tgu.3 - 17 1763 c.1547C>T c.(1546-1548)aCc>aTc p.T516I AMPH_uc003tgv.3_Missense_Mutation_p.T474I|AMPH_uc003tgt.3_Missense_Mutation_p.T401I|AMPH_uc003tgw.1_Missense_Mutation_p.T539I|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 516 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACCCTCAGTGGTTTCAGTTCC 0.602000 121 36 0 0 0.021022 0 0 RELN 5649 broad.mit.edu 37 7 103281034 103281034 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:103281034G>A uc022ajr.1 - 16 2185 c.2025C>T c.(2023-2025)ctC>ctT p.L675L RELN_uc022ajq.1_Silent_p.L675L|RELN_uc010liz.3_Silent_p.L675L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 675 EGF-like 1. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACAGAATTTGAGACATGACG 0.363000 25 8 0 0 0.004482 0 0 MYH2 4620 broad.mit.edu 37 17 10433037 10433037 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:10433037C>T uc010coi.3 - 23 3089 c.2961G>A c.(2959-2961)gaG>gaA p.E987E AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E987E|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 987 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GACCTGCCATCTCTTCTGTGA 0.493000 87 108 0 0 0.014410 0 0 ATP1A3 478 broad.mit.edu 37 19 42474402 42474402 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42474402G>A uc002osh.3 - 17 2631 c.2477C>T c.(2476-2478)cCc>cTc p.P826L ATP1A3_uc010xwf.2_Missense_Mutation_p.P837L|ATP1A3_uc010xwg.2_Missense_Mutation_p.P796L|ATP1A3_uc002osg.3_Missense_Mutation_p.P826L|ATP1A3_uc010xwh.2_Missense_Mutation_p.P839L P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 826 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CGGGTTCCTGGGCTGTCTCTT 0.617000 41 23 0 0 0.018920 0 0 CASR 846 broad.mit.edu 37 3 121980939 121980939 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:121980939G>A uc003eew.4 + 3 1495 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K CASR_uc003eev.4_Missense_Mutation_p.E353K NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 353 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGAGTTTTGGGAAGAAACATT 0.498000 38 14 0 0 0.016723 0 0 CNGA2 1260 broad.mit.edu 37 X 150906979 150906979 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:150906979G>A uc004fey.1 + 1 248 c.24G>A c.(22-24)gtG>gtA p.V8V NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 8 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCAATGGTGTGAAGAGCTCCC 0.522000 81 46 0 0 0.014410 0 0 FCN2 2220 broad.mit.edu 37 9 137776591 137776591 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:137776591C>T uc004cfg.1 + 3 284 c.274C>T c.(274-276)Cct>Tct p.P92S FCN2_uc004cfh.1_Missense_Mutation_p.P54S NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 92 Collagen-like. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AACAGGAGCACCTGGGGAGCC 0.617000 32 8 0 0 0.006214 0 0 CARS 833 broad.mit.edu 37 11 3041483 3041483 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:3041483G>A uc001lxf.3 - 10 1317 c.1233C>T c.(1231-1233)ccC>ccT p.P411P CARS_uc010qxo.2_Silent_p.P411P|CARS_uc001lxe.3_Silent_p.P318P|CARS_uc001lxg.3_Silent_p.P328P|CARS_uc001lxh.3_Silent_p.P328P|CARS_uc010qxp.2_Silent_p.P341P NM_001014437 NP_001014437 P49589 SYCC_HUMAN Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA. 328 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACGGTTCTCCGGGCTTAGAGG 0.627000 T ALK ALCL 60 20 0 0 0.014323 0 0 ASB4 51666 broad.mit.edu 37 7 95167013 95167013 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:95167013C>T uc011kij.2 + 4 1294 c.1223C>T c.(1222-1224)tCc>tTc p.S408F NM_016116 NP_057200 Q9Y574 ASB4_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA. 408 SOCS box. intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCTTTGCTTTCCCTCCCATTG 0.408000 53 28 0 0 0.008361 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19444955 19444955 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:19444955G>A uc010tcj.1 - 0 c.1155C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AAATAACAAGGAAATCACTCC 0.333000 17 4 0 0 0.009096 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246227 145246227 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145246227G>T uc003lns.1 - 1 401 c.401C>A c.(400-402)aCc>aAc p.T134N NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA. 134 p.R133*(1) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTCCATTGGGGTTCGAATGAT 0.403000 63 26 9.78306e-22 1.00381e-21 0.009535 1 0 DOPEY2 9980 broad.mit.edu 37 21 37571508 37571508 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:37571508C>T uc002yvg.3 + 2 358 c.279C>T c.(277-279)atC>atT p.I93I DOPEY2_uc011aeb.2_Silent_p.I93I NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 93 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCTTTAAAATCGTGGGGACCA 0.473000 66 22 0 0 0.016522 0 0 OR11G2 390439 broad.mit.edu 37 14 20665781 20665781 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20665781C>T uc010tlb.2 + 0 287 c.287C>T c.(286-288)cCc>cTc p.P96L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTCCACGCCCCCATGTACATC 0.522000 65 21 0 0 0.021523 0 0 ZNF148 7707 broad.mit.edu 37 3 124952531 124952531 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:124952531G>T uc003ehx.4 - 8 1525 c.1039C>A c.(1039-1041)Cct>Act p.P347T SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P347T|ZNF148_uc010hsa.3_Missense_Mutation_p.P347T|ZNF148_uc003eia.4_Missense_Mutation_p.P347T|ZNF148_uc003ehy.3_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN Homo sapiens zinc finger protein 148 (ZNF148), mRNA. 347 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 GAATAAAGAGGCAAGTAATCA 0.363000 40 14 1.05317e-09 1.07426e-09 0.020292 1 0 KIAA1804 84451 broad.mit.edu 37 1 233515097 233515097 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233515097C>T uc001hvt.4 + 8 2606 c.2345C>T c.(2344-2346)tCc>tTc p.S782F KIAA1804_uc001hvu.4_Missense_Mutation_p.S228F NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 782 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AGCCTGCCATCCACCTGTGGG 0.597000 121 26 0 0 0.006320 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296092 233296092 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233296092G>A uc001hvl.2 - 18 3689 c.3454C>T c.(3454-3456)Ccc>Tcc p.P1152S PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1152 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CACATCCAGGGATGATGCTTG 0.433000 84 15 0 0 0.004007 0 0 PDS5A 23244 broad.mit.edu 37 4 39851153 39851153 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:39851153G>A uc003guv.4 - 26 3746 c.3206C>T c.(3205-3207)tCc>tTc p.S1069F NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 1069 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 ATTTGTCTTGGATTCATCTGG 0.353000 74 20 0 0 0.012319 0 0 DSC3 1825 broad.mit.edu 37 18 28605749 28605749 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28605749G>A uc002kwj.4 - 4 762 c.607C>T c.(607-609)Cgt>Tgt p.R203C DSC3_uc002kwi.4_Missense_Mutation_p.R203C NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 203 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.R203C(4)|p.D202D(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TATTCTTCACGATCCACAGGC 0.338000 34 13 0 0 0.020292 0 0 LIFR 3977 broad.mit.edu 37 5 38490385 38490385 + Nonsense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:38490385G>A uc010ive.1 - 14 2406 c.2074C>T c.(2074-2076)Cga>Tga p.R692* LIFR_uc003jli.2_Nonsense_Mutation_p.R692* NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 692 Fibronectin type-III 5. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATACCTGGTCGAAACTCATCT 0.279000 T PLAG1 salivary adenoma 65 24 0 0 0.004656 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140788613 140788613 + Nonsense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140788613C>T uc003lkj.2 + 0 844 c.844C>T c.(844-846)Cga>Tga p.R282* PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Nonsense_Mutation_p.R282* NM_018926 NP_061749 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA. 282 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTACTTCCGAAGCACTGC 0.428000 43 28 0 0 0.006320 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675571 176675571 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:176675571G>A uc001gkz.3 + 9 4606 c.3442G>A c.(3442-3444)Ggt>Agt p.G1148S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1148 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G1148V(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGGAGGAAGGTTTCAACTG 0.418000 45 8 0 0 0.003080 0 0 ATP10D 57205 broad.mit.edu 37 4 47561023 47561023 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:47561023C>T uc003gxk.1 + 12 2682 c.2518C>T c.(2518-2520)Cgt>Tgt p.R840C ATP10D_uc003gxl.1_Missense_Mutation_p.R88C NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 840 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACAAGGCCTTCGTACTTTATG 0.418000 58 23 0 0 0.014323 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726198 168726198 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168726198C>T uc021vsc.1 + 0 649 c.649C>T c.(649-651)Cgc>Tgc p.R217C B3GALT1_uc002udz.1_Missense_Mutation_p.R217C NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 217 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R217C(2) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TCGGGATGTCCGCAGTAAGTG 0.453000 41 19 0 0 0.014323 0 0 TECTA 7007 broad.mit.edu 37 11 121008170 121008170 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:121008170C>T uc010rzo.2 + 9 2982 c.2982C>T c.(2980-2982)atC>atT p.I994I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 994 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGGAGTGCATCACATGTACAG 0.537000 29 25 0 0 0.005443 0 0 OC90 729330 broad.mit.edu 37 8 133036886 133036886 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:133036886C>T uc003ytg.2 - 12 1276 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K OC90_uc011lix.1_Missense_Mutation_p.E426K NM_001080399 NP_001073868 Q02509 OC90_HUMAN Homo sapiens otoconin 90 (OC90), mRNA. 442 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.P425L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGGCTGTCTTCACAGGCTGCT 0.647000 16 7 0 0 0.003080 0 0 GBE1 2632 broad.mit.edu 37 3 81810613 81810613 + Missense_Mutation SNP T A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:81810613T>A uc021xav.1 - 0 338 c.56A>T c.(55-57)aAt>aTt p.N19I NM_000158 NP_000149 Q04446 GLGB_HUMAN Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA. 19 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CAGGGCGGCATTGAGCGCCGC 0.672000 Glycogen Storage Disease, type IV 25 9 0 0 0.004482 0 0 ZNF483 158399 broad.mit.edu 37 9 114296142 114296142 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:114296142C>T uc004bff.2 + 3 849 c.625C>T c.(625-627)Ctg>Ttg p.L209L ZNF483_uc011lwq.2_Silent_p.L209L|ZNF483_uc004bfg.2_Silent_p.L209L NM_133464 NP_597721 Q8TF39 ZN483_HUMAN Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA. 209 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CCTAGAATTTCTGGGTAAAGA 0.403000 62 15 0 0 0.006122 0 0 LCE4A 199834 broad.mit.edu 37 1 152681714 152681714 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152681714G>A uc001fak.2 + 0 192 c.163G>A c.(163-165)Gga>Aga p.G55R NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN Homo sapiens late cornified envelope 4A (LCE4A), mRNA. 55 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CAGCTCTGAGGGAGGTGGCTG 0.597000 66 19 0 0 0.006320 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136321 40136321 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:40136321G>A uc021qgf.1 - 0 1522 c.1522C>T c.(1522-1524)Cca>Tca p.P508S LRRC4C_uc001mxc.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P508S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P504S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 508 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAGTCACTGGGATGGTGAAG 0.502000 43 22 0 0 0.012319 0 0 TRPM4 54795 broad.mit.edu 37 19 49705305 49705305 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:49705305C>T uc002pmw.3 + 19 3146 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F TRPM4_uc010emu.3_Missense_Mutation_p.S868F|TRPM4_uc010yak.2_Missense_Mutation_p.S477F|TRPM4_uc002pmx.3_Missense_Mutation_p.S839F|TRPM4_uc010emv.3_Missense_Mutation_p.S898F|TRPM4_uc010yal.2_Missense_Mutation_p.S659F|TRPM4_uc002pmy.3_Missense_Mutation_p.S355F NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 1013 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) ACCTGCGTCTCCCAGTATGCC 0.617000 91 52 0 0 0.014410 0 0 FCGR1C 100132417 broad.mit.edu 37 1 149376778 149376778 + RNA SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:149376778G>A uc010pbh.2 + 4 c.717G>A Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA. CAGAGGCCTGGTTTGCAGCTT 0.498000 24 27 0 0 0.006320 0 0 CACNA1C 775 broad.mit.edu 37 12 2690876 2690876 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:2690876C>T uc009zdu.1 + 13 2329 c.2016C>T c.(2014-2016)ctC>ctT p.L672L CACNA1C_uc001qkc.2_Silent_p.L672L|CACNA1C_uc001qjz.2_Silent_p.L672L|CACNA1C_uc001qkd.2_Silent_p.L672L|CACNA1C_uc001qke.2_Silent_p.L672L|CACNA1C_uc001qkf.2_Silent_p.L672L|CACNA1C_uc009zdw.1_Silent_p.L672L|CACNA1C_uc001qkg.2_Silent_p.L672L|CACNA1C_uc001qkh.2_Silent_p.L672L|CACNA1C_uc001qkl.2_Silent_p.L672L|CACNA1C_uc001qkj.2_Silent_p.L672L|CACNA1C_uc001qkk.2_Silent_p.L672L|CACNA1C_uc001qkn.2_Silent_p.L672L|CACNA1C_uc001qkm.2_Silent_p.L672L|CACNA1C_uc001qko.2_Silent_p.L672L|CACNA1C_uc001qkp.2_Silent_p.L672L|CACNA1C_uc001qkq.2_Silent_p.L672L|CACNA1C_uc001qku.2_Silent_p.L672L|CACNA1C_uc001qkr.2_Silent_p.L672L|CACNA1C_uc001qks.2_Silent_p.L672L|CACNA1C_uc001qkt.2_Silent_p.L672L|CACNA1C_uc009zdv.1_Silent_p.L669L|CACNA1C_uc001qkb.2_Silent_p.L672L|CACNA1C_uc001qka.1_Silent_p.L207L|CACNA1C_uc001qki.1_Silent_p.L408L NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 672 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGATGCAGCTCTTTGGAGGAA 0.532000 25 18 0 0 0.007413 0 0 PTPRB 5787 broad.mit.edu 37 12 70983782 70983782 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:70983782C>T uc001swb.4 - 5 1388 c.1358G>A c.(1357-1359)gGa>gAa p.G453E PTPRB_uc010sto.2_Missense_Mutation_p.G453E|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Missense_Mutation_p.G671E|PTPRB_uc001swa.4_Missense_Mutation_p.G671E|PTPRB_uc001swd.4_Missense_Mutation_p.G670E|PTPRB_uc009zrr.2_Missense_Mutation_p.G550E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 453 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S452I(1)|p.S452R(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTCAAATTTCCACTCTCAAC 0.453000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 34 0 0 0.006999 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217185 150217185 + Missense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150217185A>C uc003whk.3 + 1 253 c.123A>C c.(121-123)caA>caC p.Q41H GIMAP7_uc022apu.1_Missense_Mutation_p.Q41H NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 41 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGCTGCCCAAGCTGTTACCA 0.502000 44 13 0 0 0.020292 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173848292 173848292 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:173848292C>T uc002uhv.4 + 10 1260 c.1073C>T c.(1072-1074)tCc>tTc p.S358F RAPGEF4_uc002uhu.2_Missense_Mutation_p.S358F|RAPGEF4_uc002uhw.4_Missense_Mutation_p.S214F|RAPGEF4_uc010zec.1_Missense_Mutation_p.S205F|RAPGEF4_uc010zed.1_Missense_Mutation_p.S187F|RAPGEF4_uc010zee.1_Missense_Mutation_p.S205F|RAPGEF4_uc010fqo.2_Missense_Mutation_p.S187F|RAPGEF4_uc010zef.1_Missense_Mutation_p.S138F|RAPGEF4_uc010zeg.1_Missense_Mutation_p.S185F|RAPGEF4_uc010fqp.1_Missense_Mutation_p.S138F|RAPGEF4_uc010zeh.1_Missense_Mutation_p.S138F NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 358 G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) AAAGCCTTATCCCATCTTTCT 0.393000 58 26 0 0 0.008361 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433185 140433185 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140433185C>T uc003lik.1 + 0 2207 c.2130C>T c.(2128-2130)ttC>ttT p.F710F NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 710 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGTGATCTTCATTATACATG 0.348000 67 23 0 0 0.012319 0 0 OR4K2 390431 broad.mit.edu 37 14 20345076 20345076 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20345076C>T uc001vwh.1 + 0 650 c.650C>T c.(649-651)tCa>tTa p.S217L NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTATTTAATTCATATGTTATT 0.383000 359 35 0 0 0.021022 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059674 152059674 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152059674C>T uc001ezo.1 - 2 549 c.484G>A c.(484-486)Gaa>Aaa p.E162K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 162 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTCTTGGCTTCTCTCCATGGG 0.453000 103 25 0 0 0.004656 0 0 POLQ 10721 broad.mit.edu 37 3 121264614 121264614 + Silent SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:121264614G>A uc003eee.4 - 0 240 c.111C>T c.(109-111)tcC>tcT p.S37S NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 37 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GGCTCAGCACGGACCCGGAGA 0.706000 DNA polymerases (catalytic subunits) 14 5 0 0 0.014758 0 0 TLL1 7092 broad.mit.edu 37 4 166946521 166946521 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:166946521C>T uc003irh.2 + 8 1743 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S TLL1_uc021xud.1_Missense_Mutation_p.P366S|TLL1_uc011cjn.2_Missense_Mutation_p.P366S|TLL1_uc011cjo.2_Missense_Mutation_p.P190S NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 366 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCCAGGATTTCCCAATGGCTA 0.383000 33 27 0 0 0.012213 0 0 NUDT16 131870 broad.mit.edu 37 3 131100667 131100667 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:131100667C>T uc003eog.2 + 0 59 c.19C>T c.(19-21)Ctg>Ttg p.L7L LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Intron|NUDT16_uc021xec.1_Silent_p.L7L|NUDT16_uc011bln.2_5'UTR NM_152395 NP_689608 Q96DE0 NUD16_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA. 7 nucleolus|nucleoplasm RNA binding|hydrolase activity|metal ion binding large_intestine(1)|lung(6) 7 AGCCCGCAGGCTGGAGCTAGG 0.716000 5 3 0 0 0.004672 0 0 COL4A5 1287 broad.mit.edu 37 X 107821309 107821309 + Splice_Site SNP G A A rs104886074 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:107821309G>A uc022ccg.1 + 12 848 c.646_splice c.e12-1 p.G216_splice COL4A5_uc004enz.1_Splice_Site_p.G216_splice NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 216 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCTCTCCAGGGGAATATGGGC 0.368000 Alport syndrome with Diffuse Leiomyomatosis 16 16 0 0 0.003163 0 0 OR51I2 390064 broad.mit.edu 37 11 5475249 5475249 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5475249C>T uc010qzf.2 + 0 612 c.531C>T c.(529-531)tcC>tcT p.S177S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTCACTCCTACTGCCTGC 0.478000 68 32 0 0 0.009535 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215759 20215759 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20215759C>T uc010tkt.2 + 0 173 c.173C>T c.(172-174)tCt>tTt p.S58F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CTGCTCCAATCTCCTATGTAT 0.408000 307 42 0 0 0.011902 0 0 SPATA16 83893 broad.mit.edu 37 3 172694842 172694842 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:172694842C>T uc003fin.4 - 5 1033 c.849_splice c.e5-1 p.R283_splice NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 283 R -> Q (in SPGF6). cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCATGGCACTCCTAAGAACAA 0.378000 57 24 0 0 0.021523 0 0 GPR98 84059 broad.mit.edu 37 5 89925204 89925204 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:89925204G>A uc003kju.3 + 8 1783 c.1687G>A c.(1687-1689)Gga>Aga p.G563R GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 563 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATTCCTGCTGGAGCTGTGGA 0.403000 36 16 0 0 0.004990 0 0 OR6K6 128371 broad.mit.edu 37 1 158725296 158725296 + Missense_Mutation SNP G T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:158725296G>T uc001fsw.1 + 0 691 c.691G>T c.(691-693)Gca>Tca p.A231S NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGCCATCCATGCAGCGGAAAT 0.483000 69 22 9.57634e-11 9.79116e-11 0.018920 1 0 TRIOBP 11078 broad.mit.edu 37 22 38120944 38120944 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:38120944C>T uc003atr.3 + 6 2652 c.2381C>T c.(2380-2382)tCc>tTc p.S794F TRIOBP_uc003atu.3_Missense_Mutation_p.S622F|TRIOBP_uc003atq.1_Missense_Mutation_p.S794F|TRIOBP_uc003ats.1_Missense_Mutation_p.S622F NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 794 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCCAGAACATCCTGTGCCCAG 0.532000 77 28 0 0 0.008361 0 0 TRIM49 57093 broad.mit.edu 37 11 89531591 89531591 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:89531591C>T uc001pdb.3 - 7 1395 c.1066G>A c.(1066-1068)Ggt>Agt p.G356S NM_020358 NP_065091 P0CI25 TRI49_HUMAN Homo sapiens tripartite motif containing 49 (TRIM49), mRNA. 356 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTACAGACACCAAAAGCCCAA 0.438000 85 22 0 0 0.005443 0 0 CHD9 80205 broad.mit.edu 37 16 53331032 53331032 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:53331032C>T uc002ehb.3 + 28 5839 c.5675C>T c.(5674-5676)tCc>tTc p.S1892F CHD9_uc002egy.3_Missense_Mutation_p.S1892F|CHD9_uc002ehc.3_Missense_Mutation_p.S1892F|CHD9_uc002ehf.3_Missense_Mutation_p.S1006F|CHD9_uc002ehg.2_Missense_Mutation_p.S1006F|CHD9_uc010cbw.3_Missense_Mutation_p.S260F NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 1892 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GCATTCATGTCCATGTGTCGG 0.373000 100 34 0 0 0.005524 0 0 C1orf168 199920 broad.mit.edu 37 1 57202799 57202799 + Missense_Mutation SNP A T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57202799A>T uc001cym.4 - 14 2160 c.1754T>A c.(1753-1755)aTt>aAt p.I585N C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 585 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATCATAAATAATAACTTCCTG 0.333000 42 12 0 0 0.020292 0 0 ITGA2 3673 broad.mit.edu 37 5 52351403 52351403 + Missense_Mutation SNP G A A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:52351403G>A uc003joy.3 + 7 958 c.815G>A c.(814-816)cGa>cAa p.R272Q ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.R196Q|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 272 VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGTGGGCGACGAAGTGCTACG 0.373000 50 17 0 0 0.004990 0 0 ANKS1B 56899 broad.mit.edu 37 12 100219094 100219094 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:100219094C>T uc001tge.2 - 1 625 c.208G>A c.(208-210)Gga>Aga p.G70R ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G70R NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 70 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TACTTATGTCCATTTAAGGCT 0.438000 8 9 0 0 0.010729 0 0 IFNW1 3467 broad.mit.edu 37 9 21141465 21141465 + Silent SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:21141465C>T uc003zol.1 - 0 680 c.105G>A c.(103-105)agG>agA p.R35R NM_002177 NP_002168 P05000 IFNW1_HUMAN Homo sapiens interferon, omega 1 (IFNW1), mRNA. 35 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCAAGGTGTTCCTGCTAAGTA 0.527000 63 43 0 0 0.014410 0 0 SCN5A 6331 broad.mit.edu 37 3 38601711 38601711 + Missense_Mutation SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38601711C>T uc021wvo.1 - 21 4224 c.4172G>A c.(4171-4173)gGa>gAa p.G1391E SCN5A_uc021wvk.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1337E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1390E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1337E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1391E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1203E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1257E|SCN5A_uc021wvw.1_Missense_Mutation_p.G1001E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1391 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTACAATTCTCCGGTCAAGTT 0.527000 17 8 0 0 0.004482 0 0 TRIP12 9320 broad.mit.edu 37 2 230693983 230693983 + Missense_Mutation SNP A C C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:230693983A>C uc002vpx.1 - 7 1485 c.1376T>G c.(1375-1377)cTt>cGt p.L459R TRIP12_uc021vxw.1_Missense_Mutation_p.L417R|TRIP12_uc002vpy.1_Missense_Mutation_p.L114R|TRIP12_uc002vpw.1_Missense_Mutation_p.L411R|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L417R NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 411 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGAGGGGGAAGACCCCTTGC 0.408000 40 16 0 0 0.004990 0 0 SYT3 84258 broad.mit.edu 37 19 51132550 51132550 + Splice_Site SNP C T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:51132550C>T uc002pst.3 - 4 1915 c.1281_splice c.e4+1 p.S427_splice SYT3_uc002psv.3_Splice_Site_p.S427_splice|SYT3_uc010ycd.2_Splice_Site_p.S427_splice NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 427 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGCCACTGACCGAGCCGCCC 0.667000 12 7 0 0 0.003080 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726526 25726527 + Frame_Shift_Ins INS - T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:25726526_25726527insT uc003nfc.3 - 0 264_265 c.229_230insA c.(229-231)actfs p.T77fs HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 77 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 AATAATGCGAGTTTTTTTGTTA 0.545 --- 113 --- --- 26 --- LOC494141 494141 broad.mit.edu 37 11 18231788 18231789 + RNA INS - T T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:18231788_18231789insT uc009yhh.3 + 1 c.812_813insT LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA. TCAGCAATGTCTTTTTTTTTTC 0.436 --- 60 --- --- 7 ---