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 ZNF783 100289678 broad.mit.edu 37 7 148979285 148979285 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:148979285C>T uc011kuo.2 + 5 1655 c.1492C>T c.(1492-1494)Cag>Tag p.Q498* AF035281_uc003wfr.4_Intron NM_001195220 NP_001182149 C9J9J2 C9J9J2_HUMAN Homo sapiens zinc finger family member 783 (ZNF783), mRNA. 498 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) CCAGTGCCCCCAGTGTGGCCG 0.731000 40 19 0 0 1 0 0 DNAJB3 414061 broad.mit.edu 37 2 234652393 234652393 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:234652393G>A uc002vuz.3 - 0 269 c.170C>T c.(169-171)tCg>tTg p.S57L 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. 57 J. protein folding heat shock protein binding|unfolded protein binding CTTGGCGTCCGACAACACCTC 0.632000 117 64 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886109 57886109 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:57886109C>T uc001nml.1 - 0 808 c.808G>A c.(808-810)Gaa>Aaa p.E270K OR9Q1_uc001nmj.3_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) ACTTTGTCTTCCTCCAGAGAT 0.458000 62 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499171 179499171 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179499171C>T uc021vsy.1 - 178 34858 c.34633G>A c.(34633-34635)Gat>Aat p.D11545N MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D5240N|TTN_uc021vta.1_Missense_Mutation_p.D5173N|TTN_uc021vtb.1_Missense_Mutation_p.D5048N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12472 Glu-rich.|Pro-rich. 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) AATTGAGAATCATTAATAACA 0.393000 17 20 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651491 84651491 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:84651491G>A uc002bjz.4 + 20 3335 c.3111G>A c.(3109-3111)tgG>tgA p.W1037* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W1037* NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1037 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) GGCAAATGTGGAATAACAAAA 0.488000 34 31 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222345 140222345 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140222345G>A uc003lhs.2 + 0 1439 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R480Q NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 494 Cadherin 5. 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) GTGTCTGCGCGAGACGCGGAC 0.652000 202 37 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750170 142750170 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:142750170C>T uc011ksv.2 + 0 733 c.733C>T c.(733-735)Ctg>Ttg p.L245L NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T244K(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TCACCTCACACTGGTCTTCAT 0.547000 84 51 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 677397 677397 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:677397C>T uc003gay.3 - 7 1053 c.996_splice c.e7+1 p.L332_splice MFSD7_uc003gaw.3_Splice_Site_p.L74_splice|MFSD7_uc003gax.3_Splice_Site_p.L331_splice|MFSD7_uc003gaz.3_Splice_Site_p.L213_splice NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA. 332 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 GAGACCCTCACCAGGGCAAAG 0.642000 17 8 0 0 1 0 0 XPO1 7514 broad.mit.edu 37 2 61719213 61719213 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:61719213A>G uc010ypn.2 - 16 1973 c.1844T>C c.(1843-1845)tTg>tCg p.L615S XPO1_uc010fcl.3_Missense_Mutation_p.L611S|XPO1_uc002sbj.3_Missense_Mutation_p.L615S|XPO1_uc002sbk.3_Missense_Mutation_p.L176S|XPO1_uc002sbh.3_Missense_Mutation_p.L262S NM_003400 NP_003391 O14980 XPO1_HUMAN Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA. 615 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex RNA binding|protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AATGTTGTTCAAAATTTCATC 0.348000 Mis CLL 29 30 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133869 91133869 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:91133869C>T uc004efk.2 + 1 3475 c.2630C>T c.(2629-2631)tCc>tTc p.S877F PCDH11X_uc004efl.2_Missense_Mutation_p.S877F|PCDH11X_uc010nmv.2_Missense_Mutation_p.S877F|PCDH11X_uc004efm.2_Missense_Mutation_p.S877F|PCDH11X_uc004efn.2_Missense_Mutation_p.S877F|PCDH11X_uc004efo.2_Missense_Mutation_p.S877F|PCDH11X_uc004efh.2_Missense_Mutation_p.S877F|PCDH11X_uc004efj.1_Missense_Mutation_p.S877F NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 877 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 aagaagCATTCCCCTAAGAAC 0.393000 1 31 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38770043 38770043 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:38770043C>T uc003ciq.3 - 14 2630 c.2630G>A c.(2629-2631)gGg>gAg p.G877E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 877 sensory perception voltage-gated sodium channel complex p.L876L(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCAGGTTCCCTAGCACCAT 0.498000 32 9 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21936872 21936872 + RNA SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:21936872G>A uc010tzj.1 - 0 c.3868C>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TGACTTTAGGGCCATAAGCCT 0.512000 141 12 0 0 1 0 0 ELK1 2002 broad.mit.edu 37 X 47500672 47500672 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:47500672A>T uc004dik.4 - 2 491 c.169T>A c.(169-171)Tac>Aac p.Y57N ELK1_uc010nhv.3_Missense_Mutation_p.Y57N|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript NM_001114123 NP_005220 P19419 ELK1_HUMAN Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA. 57 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 AGCTTGTCGTAATTCATGTTG 0.532000 3 27 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49716677 49716677 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:49716677A>G uc001zxn.3 + 1 712 c.183A>G c.(181-183)ggA>ggG p.G61G C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN Homo sapiens fibroblast growth factor 7 (FGF7), mRNA. 61 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) ACATGGAAGGAGGGGATATAA 0.423000 70 51 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681061 100681061 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:100681061C>T uc003uxp.1 + 2 6417 c.6364C>T c.(6364-6366)Ctt>Ttt p.L2122F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2122 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCTAGCACCCTTTCAACAAC 0.493000 164 160 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31577426 31577426 + Splice_Site SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:31577426C>A uc002wyi.3 - 9 706 c.613_splice c.e9+1 p.G205_splice NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 205 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GGTCACCTACCTATAGACTTC 0.493000 42 38 9.85521e-28 9.9628e-28 1 1 0 ABCC8 6833 broad.mit.edu 37 11 17436140 17436140 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:17436140G>A uc001mnc.3 - 18 2435 c.2309C>T c.(2308-2310)gCc>gTc p.A770V NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 770 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CGAAGCATAGGCCACGGGGCC 0.547000 35 86 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406380 39406380 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:39406380G>A uc002hwi.3 + 0 442 c.408G>A c.(406-408)gaG>gaA p.E136E NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA. 136 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTGCTGTGAGACCACTTGCT 0.572000 73 104 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448630 91448630 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:91448630C>T uc010bnz.2 + 2 397 c.282C>T c.(280-282)gtC>gtT p.V94V MAN2A2_uc010boa.3_Silent_p.V136V|MAN2A2_uc002bqc.3_Silent_p.V94V|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA. 94 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) ACTACACGGTCAATGGCTCCT 0.632000 44 57 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66083110 66083110 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:66083110G>A uc001ohm.1 - 0 1406 c.1389C>T c.(1387-1389)gcC>gcT p.A463A NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 463 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GAGGCTGGTGGGCAGAAGGCA 0.642000 33 61 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48376352 48376352 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:48376352G>A uc001rqu.3 - 33 2415 c.2234C>T c.(2233-2235)cCt>cTt p.P745L COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P676L NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 745 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.G744G(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AAGACCTGGAGGGCCCTGAGC 0.627000 17 5 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 404557 404557 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:404557C>T uc021qbk.1 + 13 2456 c.2427C>T c.(2425-2427)ttC>ttT p.F809F PKP3_uc001lpc.3_Silent_p.F794F NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 794 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGAGGACTTCCTGGGCCCAT 0.627000 21 52 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43221265 43221265 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:43221265C>T uc002lbe.3 + 7 1899 c.1083C>T c.(1081-1083)ttC>ttT p.F361F SLC14A2_uc002lbb.3_Silent_p.F361F|SLC14A2_uc010dnj.3_Silent_p.F361F NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 361 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGCATGTTCTATGCCCTCA 0.562000 13 35 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21060949 21060949 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:21060949A>G uc010vbe.2 - 30 4402 c.4402T>C c.(4402-4404)Ttc>Ctc p.F1468L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1468 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCCCCTTGAAGAACTTCCCC 0.507000 46 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179554074 179554074 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179554074G>A uc021vsy.1 - 120 28447 c.28222C>T c.(28222-28224)Cct>Tct p.P9408S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6069S|TTN_uc010fre.1_Missense_Mutation_p.P519S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10335 Ig-like 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTCTTCAGGAACTTTCTTC 0.373000 15 15 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52570034 52570034 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:52570034C>T uc002xws.2 - 10 1955 c.1617G>A c.(1615-1617)ggG>ggA p.G539G BCAS1_uc010zza.1_Silent_p.G205G|BCAS1_uc010zzb.1_Silent_p.G465G|BCAS1_uc010gim.2_Silent_p.G395G|BCAS1_uc002xwt.2_Silent_p.G525G|BCAS1_uc010gil.1_Silent_p.G461G NM_003657 NP_003648 O75363 BCAS1_HUMAN Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA. 539 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGAGCTTGTCCCCATTCTGCA 0.537000 59 60 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84560874 84560874 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:84560874C>T uc004eer.2 - 12 1506 c.1360G>A c.(1360-1362)Gat>Aat p.D454N POF1B_uc004ees.3_Missense_Mutation_p.D454N NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 454 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 CCAATCTCATCCATTTTAGCC 0.388000 3 15 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132354 37132354 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:37132354A>C uc001wty.4 + 2 983 c.257A>C c.(256-258)cAc>cCc p.H86P PAX9_uc010amq.3_5'Flank NM_006194 NP_006185 P55771 PAX9_HUMAN Homo sapiens paired box 9 (PAX9), mRNA. 86 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GTGGTGAAACACATCCGGACC 0.642000 50 17 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802960 31802960 + Missense_Mutation SNP C T T rs76547537 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:31802960C>T uc011acw.2 + 0 367 c.367C>T c.(367-369)Cct>Tct p.P123S NM_181600 NP_853631 Q3LI77 KR134_HUMAN Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA. 123 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 CTGTGGTTTTCCTTCCCTGAG 0.512000 19 17 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10058885 10058885 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:10058885G>A uc004csx.4 + 5 650 c.452G>A c.(451-453)cGg>cAg p.R151Q WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 151 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGTGAGCTCCGGACCATCAAG 0.458000 3 20 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200163 155200163 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:155200163G>A uc021xge.1 - 22 3953 c.3676C>T c.(3676-3678)Cat>Tat p.H1226Y PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.H1188Y NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1226 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AAGGGACAATGGCCTGACATC 0.488000 37 9 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38798172 38798172 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:38798172C>T uc003gtl.3 - 3 2555 c.2281G>A c.(2281-2283)Gaa>Aaa p.E761K TLR1_uc021xnn.1_Missense_Mutation_p.E761K NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 761 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TTGCTCTTTTCCTTGGGCCAT 0.433000 36 27 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73716847 73716847 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:73716847C>T uc002sje.1 + 9 7869 c.7758C>T c.(7756-7758)ttC>ttT p.F2586F ALMS1_uc002sjf.1_Silent_p.F2544F|ALMS1_uc002sjg.3_Silent_p.F1974F|ALMS1_uc002sjh.1_Silent_p.F1974F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 2586 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 AGGGATGTTTCCGGACTCTAA 0.458000 88 60 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137302 40137302 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:40137302C>T uc021qgf.1 - 0 541 c.541G>A c.(541-543)Gaa>Aaa p.E181K LRRC4C_uc001mxc.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E181K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E177K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 181 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) CTTTTCAATTCCCCTAAGTCT 0.438000 36 11 0 0 1 0 0 LXN 56925 broad.mit.edu 37 3 158387398 158387398 + Splice_Site SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:158387398T>C uc003fch.3 - 3 408 c.193_splice c.e3-1 p.Q65_splice GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Splice_Site_p.Q65_splice NM_020169 NP_064554 Q9BS40 LXN_HUMAN Homo sapiens latexin (LXN), mRNA. 65 cytoplasm metalloendopeptidase inhibitor activity|protein binding breast(2)|endometrium(1)|kidney(2) 5 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CACCTTAACTTGCTGTTTGAA 0.353000 8 23 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797696 76797696 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:76797696G>A uc003hix.3 - 10 1421 c.1064C>T c.(1063-1065)cCc>cTc p.P355L PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.P355L NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 355 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGGCGAAGAGGGAAGAGAGCG 0.612000 23 23 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33135509 33135509 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:33135509G>T uc003cfk.2 - 1 391 c.179C>A c.(178-180)tCc>tAc p.S60Y GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Missense_Mutation_p.S60Y NM_001039770 NP_001129710 Q6ZT21 TMPPE_HUMAN Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA. 60 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 AATGTAGAGGGAGCCAATGAG 0.567000 5 19 4.63292e-17 4.66821e-17 1 1 0 DUOXA1 90527 broad.mit.edu 37 15 45415186 45415186 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:45415186G>A uc001zup.3 - 3 427 c.27C>T c.(25-27)ccC>ccT p.P9P DUOXA1_uc010uem.2_Silent_p.P9P|DUOXA1_uc010bec.3_Silent_p.P9P|DUOXA1_uc001zuq.1_Silent_p.P9P|DUOXA1_uc001zur.1_Silent_p.P9P|DUOXA1_uc010bed.1_Silent_p.P9P NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA. 9 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CAGCATAGAAGGGGAATGTGT 0.517000 61 26 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234262 48234262 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:48234262C>T uc002eff.1 - 13 2357 c.2007G>A c.(2005-2007)ggG>ggA p.G669G ABCC11_uc002efg.1_Silent_p.G669G|ABCC11_uc002efh.1_Silent_p.G669G|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. 669 ABC transporter 1. 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) AAATGTGCTTCCCCACGTGGG 0.607000 42 28 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321541 52321541 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:52321541G>A uc003xqu.4 - 16 2744 c.2643C>T c.(2641-2643)gtC>gtT p.V881V PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 881 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) CTCGTGCATAGACTGAATCCA 0.662000 23 31 0 0 1 0 0 NPL 80896 broad.mit.edu 37 1 182783974 182783974 + Missense_Mutation SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:182783974C>A uc009wyb.3 + 6 773 c.345C>A c.(343-345)ttC>ttA p.F115L NPL_uc010pnx.2_Missense_Mutation_p.F96L|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.F115L|NPL_uc021pfz.1_Missense_Mutation_p.F115L|NPL_uc009wyc.3_Missense_Mutation_p.F115L|NPL_uc001gpo.2_Missense_Mutation_p.F96L NM_030769 NP_110396 Q9BXD5 NPL_HUMAN Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA. 115 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 CACCGTTCTTCCTCAAGCCAT 0.423000 3 54 6.3237e-29 6.39972e-29 1 1 0 VWF 7450 broad.mit.edu 37 12 6135190 6135190 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:6135190C>T uc001qnn.1 - 22 3240 c.2990G>A c.(2989-2991)gGg>gAg p.G997E VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 997 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ATCAAAATTCCCACACAGGCC 0.547000 27 36 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564662 179564662 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:179564662G>A uc003mlq.3 - 1 525 c.228C>T c.(226-228)ccC>ccT p.P76P RASGEF1C_uc003mlr.3_Silent_p.P76P|RASGEF1C_uc003mlp.4_5'Flank NM_175062 NP_778232 Q8N431 RGF1C_HUMAN Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA. 76 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGCTCCCGGGGCTCGATGA 0.652000 49 20 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33767727 33767727 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:33767727C>T uc002hjk.1 - 3 2911 c.2581G>A c.(2581-2583)Gaa>Aaa p.E861K SLFN13_uc010wch.1_Missense_Mutation_p.E861K|SLFN13_uc002hjl.2_Missense_Mutation_p.E861K|SLFN13_uc002hjm.2_Missense_Mutation_p.E530K|SLFN13_uc010ctt.2_Missense_Mutation_p.E543K NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 861 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) ATGCTCCTTTCCAGGCCTGAG 0.488000 15 97 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739078 119739078 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:119739078C>T uc002tln.1 + 8 992 c.860C>T c.(859-861)cCa>cTa p.P287L MARCO_uc010yyf.1_Missense_Mutation_p.P209L NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 287 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGGCCAGGCCCACCAGGTAAG 0.512000 3 2 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432869 111432869 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:111432869C>T uc003dya.3 + 2 1330 c.760C>T c.(760-762)Cgg>Tgg p.R254W PLCXD2_uc003dxz.3_Missense_Mutation_p.R254W NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 254 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 TCTGAGTGAGCGGGCCTCACG 0.592000 67 4 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100901712 100901712 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:100901712C>T uc003pqj.4 - 1 651 c.184G>A c.(184-186)Gag>Aag p.E62K SIM1_uc021zdg.1_Missense_Mutation_p.E62K|SIM1_uc010kcu.3_Missense_Mutation_p.E62K NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 62 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCCCACGCCTCGCCGAGCCCT 0.627000 39 17 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110124729 110124729 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:110124729C>T uc009yxy.3 - 8 1211 c.901G>A c.(901-903)Gaa>Aaa p.E301K RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.E301K|RDX_uc010rwe.2_Missense_Mutation_p.E165K NM_002906 NP_002897 P35241 RADI_HUMAN Homo sapiens radixin (RDX), mRNA. 301 actin filament capping Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane actin binding p.I300V(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGTTGTACTTCAATAGTATCA 0.413000 14 38 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107600255 107600255 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:107600255G>A uc003vev.2 - 16 2572 c.2411C>T c.(2410-2412)tCg>tTg p.S804L LAMB1_uc003vew.2_Missense_Mutation_p.S780L|LAMB1_uc003vex.3_Missense_Mutation_p.S780L NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 780 Laminin EGF-like 6. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAACTTAACGAACCCTGAGG 0.547000 10 10 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70715276 70715276 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:70715276G>A uc003heo.3 - 4 488 c.375C>T c.(373-375)atC>atT p.I125I SULT1E1_uc010ihv.1_Silent_p.I125I NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 125 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GGCAAAGATAGATTATCTAAG 0.318000 21 27 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617773 77617773 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:77617773G>A uc003yau.2 + 1 1837 c.1450G>A c.(1450-1452)Gac>Aac p.D484N ZFHX4_uc003yat.1_Missense_Mutation_p.D484N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D484N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 484 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) TGAACTTGATGACGAGGAAGT 0.428000 HNSCC(33;0.089) 14 5 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76833641 76833641 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:76833641C>T uc009yup.3 + 12 1928 c.1743C>T c.(1741-1743)atC>atT p.I581I CAPN5_uc001oxx.3_Silent_p.I541I|CAPN5_uc009yuq.3_Silent_p.I577I|CAPN5_uc001oxy.3_Silent_p.I581I|CAPN5_uc001oya.3_Silent_p.I103I NM_004055 NP_004046 O15484 CAN5_HUMAN Homo sapiens calpain 5 (CAPN5), mRNA. 541 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CTTATGTGATCATCAAGTGTG 0.572000 10 13 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563857 75563857 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:75563857A>T uc002fej.1 - 4 765 c.444T>A c.(442-444)ttT>ttA p.F148L CHST5_uc002fei.3_Missense_Mutation_p.F142L|CHST5_uc021tlk.1_Missense_Mutation_p.F142L NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 142 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CCCAGTTGAAAAAGGCGGACA 0.607000 54 65 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57750757 57750757 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:57750757A>T uc003jrn.3 - 12 2027 c.1847T>A c.(1846-1848)tTt>tAt p.F616Y PLK2_uc021xyx.1_Missense_Mutation_p.F602Y NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 616 POLO box 2. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GCCATCATTAAAGAGCATCAT 0.428000 92 193 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109383769 109383769 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:109383769C>T uc002tem.4 + 19 6900 c.6774C>T c.(6772-6774)ttC>ttT p.F2258F NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 2258 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAAATCTTTTCCGTTTTGGTG 0.398000 150 70 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913568 23913568 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:23913568G>A uc001uon.2 - 9 5036 c.4447C>T c.(4447-4449)Caa>Taa p.Q1483* SACS_uc001uoo.2_Nonsense_Mutation_p.Q1336*|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. 1483 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) TCAGCGTTTTGAAGTAGTTCT 0.383000 4 32 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6639007 6639007 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:6639007C>T uc001qoo.2 + 28 3766 c.3720C>T c.(3718-3720)ctC>ctT p.L1240L NCAPD2_uc010sfd.1_Silent_p.L1195L NM_014865 NP_055680 Q15021 CND1_HUMAN Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA. 1240 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 AGCGAGGCCTCCGTAAGATGC 0.527000 54 27 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254394 155254394 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:155254394G>A uc003inw.2 - 8 1469 c.1469C>T c.(1468-1470)tCc>tTc p.S490F DCHS2_uc003inx.2_Missense_Mutation_p.S989F NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 490 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CGTGGTCTGGGATATTCTAAT 0.597000 26 51 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261864 23261864 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:23261864G>A uc001yvh.1 + 10 1275 c.733G>A c.(733-735)Gtc>Atc p.V245I DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA. endometrium(1)|lung(2)|prostate(1) 4 CCAGGCCCAGGTCAAAAACAA 0.587000 52 26 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228147117 228147117 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:228147117G>A uc002vom.2 + 31 2687 c.2525G>A c.(2524-2526)gGa>gAa p.G842E BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 842 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAGACCCAGGAATTCCAGGC 0.443000 25 22 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886005 57886005 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:57886005G>A uc001nml.1 - 0 912 c.912C>T c.(910-912)gtC>gtT p.V304V OR9Q1_uc001nmj.3_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V304V(2) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTCTCCTAGCGACCTTTCTGA 0.428000 79 22 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886515 228886515 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:228886515C>T uc002vpq.2 - 5 656 c.609G>A c.(607-609)acG>acA p.T203T SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 203 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGAACAGTTCGTGTCATCCT 0.463000 37 16 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118657941 118657941 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:118657941C>T uc001ehk.2 - 3 507 c.439G>A c.(439-441)Gaa>Aaa p.E147K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 147 Lys-rich. cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACCTTCTTTTCATTTTCCCGT 0.423000 13 131 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1255221 1255221 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:1255221C>T uc002cks.3 + 10 2807 c.2559C>T c.(2557-2559)atC>atT p.I853I CACNA1H_uc002ckt.3_Silent_p.I853I NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 853 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGGGCTACATCCGGAACCCGT 0.597000 58 62 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20673166 20673166 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:20673166A>T uc002dhm.1 - 5 1010 c.942T>A c.(940-942)ttT>ttA p.F314L ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F314L NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 314 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 ATACCCCCCAAAAGTGGTTAA 0.363000 39 12 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40251444 40251444 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:40251444G>A uc003cka.3 + 10 1900 c.1765G>A c.(1765-1767)Gag>Aag p.E589K MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E589K|MYRIP_uc010hhw.3_Missense_Mutation_p.E500K|MYRIP_uc011ayz.2_Missense_Mutation_p.E402K|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 589 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CAGGCTGTACGAGTTAGCAAT 0.493000 22 47 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155295099 155295099 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:155295099C>T uc003inw.2 - 3 435 c.435G>A c.(433-435)caG>caA p.Q145Q DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 145 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGTCATTCTCTGCTCATCCT 0.348000 32 37 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47351397 47351397 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:47351397C>T uc001wwj.4 - 10 2424 c.2266G>A c.(2266-2268)Gag>Aag p.E756K MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.E458K|MDGA2_uc010ani.3_Missense_Mutation_p.E247K NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 687 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTTTAATCTCCTGCTCCCAC 0.358000 10 14 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135439077 135439077 + Silent SNP T C C rs149978897 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:135439077T>C uc010qvg.2 - 3 416 c.363A>G c.(361-363)tcA>tcG p.S121S NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 121 nucleus p.S122S(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTTTATTCAATGACAAGCTGC 0.517000 25 4 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14880876 14880876 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:14880876C>T uc003ssz.3 - 0 200 c.13G>A c.(13-15)Gaa>Aaa p.E5K DGKB_uc011jxt.2_Missense_Mutation_p.E5K|DGKB_uc003sta.3_Missense_Mutation_p.E5K|DGKB_uc011jxu.2_Missense_Mutation_p.E5K|DGKB_uc011jxv.1_Missense_Mutation_p.E5K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 5 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GCCCATTTTTCCTGGTTTGTC 0.403000 7 9 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980435 121980435 + Nonsense_Mutation SNP C T T rs104893707 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:121980435C>T uc003eew.4 + 3 991 c.553C>T c.(553-555)Cga>Tga p.R185* CASR_uc003eev.4_Nonsense_Mutation_p.R185* NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 185 R -> Q (in FHH). 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) GTCTTTCCTCCGAACCATCCC 0.507000 112 31 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115590032 115590032 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:115590032C>T uc004eqi.3 + 13 1971 c.1840C>T c.(1840-1842)Cgt>Tgt p.R614C NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 614 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) GGAACAACATCGTGGGGAAAG 0.408000 5 45 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9086405 9086405 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:9086405C>T uc009vmo.1 - 1 1 c.1_splice c.e1-1 p.M1_splice NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 1 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGTTCTCCATCCTTGTTCAGG 0.592000 3 17 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71391530 71391530 + Splice_Site SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:71391530G>A uc010dfm.3 - 25 3355 c.3355_splice c.e25-1 p.P1119_splice SDK2_uc002jjt.4_Splice_Site_p.P278_splice|SDK2_uc010dfn.2_Splice_Site_p.P798_splice NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1119 Fibronectin type-III 6. 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 CTCCGGGAGAGGCTGCAGCGG 0.632000 5 28 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064549 9064549 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9064549C>T uc002mkp.3 - 2 23101 c.22897G>A c.(22897-22899)Gaa>Aaa p.E7633K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7635 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 AGGGTACTTTCTAGTGTAGAC 0.473000 26 24 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215793886 215793886 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:215793886C>T uc001hks.3 + 17 2668 c.2374C>T c.(2374-2376)Cca>Tca p.P792S KCTD3_uc001hkt.3_Missense_Mutation_p.P790S|KCTD3_uc010pub.2_Missense_Mutation_p.P690S|KCTD3_uc009xdn.3_Missense_Mutation_p.P516S NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 792 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TACTGCGTCCCCATCTCCTAC 0.448000 4 108 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152631541 152631541 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:152631541G>A uc021zhb.1 - 86 17232 c.17009C>T c.(17008-17010)tCt>tTt p.S5670F SYNE1_uc003qos.4_Missense_Mutation_p.S194F|SYNE1_uc003qot.4_Missense_Mutation_p.S5599F|SYNE1_uc003qou.4_Missense_Mutation_p.S5670F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5670 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCCGATGAGAGAGCTGCTC 0.443000 HNSCC(10;0.0054) 41 15 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33464972 33464972 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:33464972G>A uc003zsz.3 - 20 2785 c.2684C>T c.(2683-2685)tCc>tTc p.S895F NOL6_uc003zsy.3_5'UTR|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.S892F|NOL6_uc011lob.2_Missense_Mutation_p.S843F|NOL6_uc003ztb.1_Missense_Mutation_p.S895F NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 895 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AACCTGGGGGGAACTAAAGGG 0.512000 2 49 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48591433 48591433 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:48591433G>A uc001zwn.4 + 24 3273 c.3057G>A c.(3055-3057)tgG>tgA p.W1019* SLC12A1_uc010bem.3_Nonsense_Mutation_p.W1019*|SLC12A1_uc001zwq.4_Nonsense_Mutation_p.W790*|SLC12A1_uc001zwr.4_Nonsense_Mutation_p.W746* NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 1019 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.P1018L(1)|p.P1018T(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AAACTCCGTGGAAAATTACAG 0.363000 10 14 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186390650 186390650 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:186390650C>T uc003fqq.3 + 4 656 c.633C>T c.(631-633)caC>caT p.H211H NM_000412 NP_000403 P04196 HRG_HUMAN Homo sapiens histidine-rich glycoprotein (HRG), mRNA. 211 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TCCCCAGACACCCCAATGTGA 0.463000 34 4 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147178 26147178 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:26147178C>G uc002dof.3 + 1 1372 c.980C>G c.(979-981)tCc>tGc p.S327C NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 327 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) ATCGATGCTTCCTGGAGTGCC 0.542000 246 5 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27003982 27003982 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:27003982C>T uc003acy.1 - 3 373 c.303G>A c.(301-303)tgG>tgA p.W101* NM_001887 NP_001878 P53674 CRBB1_HUMAN Homo sapiens crystallin, beta B1 (CRYBB1), mRNA. 101 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CAAAGGCGACCCAGCTGGATA 0.572000 31 27 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220379880 220379880 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:220379880A>T uc002vlz.3 + 0 989 c.815A>T c.(814-816)aAa>aTa p.K272I ASIC4_uc010fwi.2_Missense_Mutation_p.K272I|ASIC4_uc010fwj.2_Missense_Mutation_p.K272I|ASIC4_uc002vly.2_Missense_Mutation_p.K272I|ASIC4_uc002vma.3_Missense_Mutation_p.K272I|ASIC4_uc002vmb.3_5'Flank NM_018674 NP_061144 Q96FT7 ACCN4_HUMAN Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA. 272 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity CTGCCCCCCAAAGACCGGGAT 0.622000 21 15 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974255 35974255 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:35974255A>T uc004ddj.3 + 7 1418 c.1352A>T c.(1351-1353)aAa>aTa p.K451I CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 451 p.K450E(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CACTTTAAAAAAACTGCAAAT 0.348000 3 29 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167789556 167789556 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:167789556G>A uc003qvv.1 - 5 798 c.586C>T c.(586-588)Cca>Tca p.P196S TCP10_uc003qvu.3_Missense_Mutation_p.P196S|TCP10_uc003qvw.3_3'UTR NM_004610 NP_004601 Q12799 TCP10_HUMAN Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA. 223 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGGAAGATGGATGCATAATC 0.612000 18 7 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48691853 48691853 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:48691853C>T uc003cuf.1 - 8 5231 c.5231G>A c.(5230-5232)gGa>gAa p.G1744E CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Missense_Mutation_p.G1674E NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 1674 EGF-like 4; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGGACACCTCCCAGAAGAAG 0.627000 25 14 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44856526 44856527 + Missense_Mutation DNP CC TT TT rs141676463 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:44856526_44856527CC>TT uc003cnx.4 + 19 2656_2657 c.2507_2508CC>TT c.(2506-2508)tcc>tTT p.S836F KIF15_uc010hiq.3_Missense_Mutation_p.S739F|KIF15_uc010hir.3_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 836 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AACAAACTTTCCGAAAGACACA 0.386000 48 15 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871128 8871128 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:8871128G>A uc002qzc.2 - 29 5220 c.5038C>T c.(5038-5040)Ccc>Tcc p.P1680S KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1581S|KIDINS220_uc002qzb.2_Missense_Mutation_p.P534S NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 1680 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACGGTGCTGGGAGTTCGGTTC 0.478000 32 38 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496835 216496835 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:216496835C>T uc001hku.1 - 7 1918 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K USH2A_uc001hkv.3_Missense_Mutation_p.E511K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 511 Laminin N-terminal. 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) ATGGTGATTTCGTCCACTGCA 0.378000 HNSCC(13;0.011) 6 115 0 0 1 0 0 DRAM1 55332 broad.mit.edu 37 12 102295138 102295138 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:102295138C>T uc001tix.3 + 2 732 c.269C>T c.(268-270)cCt>cTt p.P90L DRAM1_uc010svv.2_Missense_Mutation_p.P90L NM_018370 NP_060840 Q8N682 DRAM1_HUMAN Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA. 90 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TTCAGCACTCCTGTTTTTAAC 0.388000 17 27 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17412109 17412109 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:17412109C>T uc002ngb.4 - 1 557 c.317G>A c.(316-318)gGg>gAg p.G106E NM_024527 NP_078803 Q96I13 ABHD8_HUMAN Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA. 106 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 GCCATTCTGCCCGTGTAGGAG 0.721000 39 21 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75681110 75681110 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:75681110C>T uc003hig.2 - 2 587 c.240G>A c.(238-240)ggG>ggA p.G80G NM_001729 NP_001720 P35070 BTC_HUMAN Homo sapiens betacellulin (BTC), mRNA. 80 EGF-like. positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) AGCGGCATCTCCCTTTGATGC 0.532000 77 25 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122351025 122351025 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:122351025G>A uc003efm.2 + 9 1597 c.1531G>A c.(1531-1533)Gac>Aac p.D511N PARP15_uc003efn.2_Missense_Mutation_p.D316N|PARP15_uc003efo.1_Missense_Mutation_p.D258N|PARP15_uc003efp.1_Missense_Mutation_p.D277N|PARP15_uc011bjt.1_Missense_Mutation_p.D208N NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA. 489 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) TACCATAAAGGACAAGTTCAC 0.378000 11 21 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67266055 67266056 + Missense_Mutation DNP GG AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:67266055_67266056GG>AA uc002esl.3 - 13 2200_2201 c.2088_2089CC>TT c.(2086-2091)gacccc>gaTTcc p.P697S FHOD1_uc010ced.3_Missense_Mutation_p.P504S NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 697 FH2.|Interaction with ROCK1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CTGCGCTTGGGGTCCAGCACTG 0.579000 33 32 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79083524 79083524 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:79083524G>A uc002bej.4 - 4 1072 c.861C>T c.(859-861)atC>atT p.I287I ADAMTS7_uc010und.1_Silent_p.I287I|ADAMTS7_uc002bek.1_Silent_p.I287I NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 287 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TGGTGATGTGGATGGGGTTCC 0.602000 56 18 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140909190 140909190 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140909190G>A uc003llb.4 - 19 2797 c.2656C>T c.(2656-2658)Ctg>Ttg p.L886L DIAPH1_uc003llc.4_Silent_p.L877L|DIAPH1_uc021yep.1_Silent_p.L886L|DIAPH1_uc021yeq.1_Silent_p.L877L|DIAPH1_uc010jgc.1_Silent_p.L322L NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 886 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTCAGTCAGAACAGCCTCA 0.478000 22 94 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964176 109964176 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:109964176G>A uc010ywt.1 + 1 620 c.620G>A c.(619-621)gGg>gAg p.G207E NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA. 207 SH3 1. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 AGCTACGAGGGGAAGGAACCT 0.597000 13 7 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142381 177142381 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:177142381G>A uc003iuq.2 - 4 709 c.595C>T c.(595-597)Cct>Tct p.P199S ASB5_uc003iup.2_Missense_Mutation_p.P146S NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 199 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CCCAAATGAGGAATTTCTTGG 0.413000 27 31 0 0 1 0 0 TPD52L1 7164 broad.mit.edu 37 6 125583982 125583982 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:125583982G>A uc003pzu.1 + 6 708 c.489G>A c.(487-489)acG>acA p.T163T TPD52L1_uc003pzv.1_Missense_Mutation_p.R143Q|TPD52L1_uc003pzw.1_Missense_Mutation_p.R130Q|TPD52L1_uc003pzy.1_Silent_p.T134T|TPD52L1_uc003pzz.1_Missense_Mutation_p.R101Q NM_003287 NP_001003395 Q16890 TPD53_HUMAN Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA. 163 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity p.K162N(1) endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CATTTCAGACGAAAGTAGGCG 0.463000 41 6 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861122 55861122 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55861122C>T uc010rix.2 + 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGAGTGTTTCCTTCTGGGAT 0.428000 69 27 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026739 61026739 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:61026739C>T uc001nra.3 - 19 2555 c.2276G>A c.(2275-2277)gGa>gAa p.G759E VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 759 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TGCCACATTTCCGTGAGGGGA 0.582000 44 13 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786772 121786772 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:121786772G>A uc003ksw.1 + 9 2436 c.2230G>A c.(2230-2232)Gat>Aat p.D744N SNCAIP_uc011cwl.1_Missense_Mutation_p.D302N|SNCAIP_uc003ksy.1_Missense_Mutation_p.D378N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D791N|SNCAIP_uc003ksz.1_Missense_Mutation_p.D378N|SNCAIP_uc010jcu.2_Missense_Mutation_p.D340N|SNCAIP_uc011cwm.1_Missense_Mutation_p.D378N|SNCAIP_uc003kta.1_Missense_Mutation_p.D376N|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.D438N|SNCAIP_uc010jcx.1_Missense_Mutation_p.D684N|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.D260N NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 744 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAATCCCTGGATGGCCACAG 0.542000 6 12 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685446 125685446 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:125685446G>A uc022cds.1 - 0 1146 c.1146C>T c.(1144-1146)ttC>ttT p.F382F DCAF12L1_uc004eul.3_Silent_p.F382F NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 382 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TTTCCTCCAGGAATTTCTGGG 0.612000 2 32 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693102 187693102 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:187693102G>A uc002upu.1 - 8 1551 c.1511C>T c.(1510-1512)tCa>tTa p.S504L NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 504 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTTCCCAAATGACACAGTGGG 0.333000 18 6 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76440868 76440868 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:76440868C>T uc010dhp.2 - 70 11471 c.11346G>A c.(11344-11346)gaG>gaA p.E3782E DNAH17_uc002jvq.3_Silent_p.E67E|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) ACTCATCCATCTCCGAGAGGG 0.577000 8 21 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20942962 20942962 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:20942962C>T uc001vxo.4 + 3 462 c.316C>T c.(316-318)Ctg>Ttg p.L106L PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_5'UTR NM_000270 NP_000261 P00491 PNPH_HUMAN Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. 106 NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) TTTCCACCTTCTGGGTGTGGA 0.448000 6 9 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633954 70633954 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:70633954A>T uc001xly.3 - 1 1940 c.1186T>A c.(1186-1188)Tcc>Acc p.S396T SLC8A3_uc001xlw.3_Missense_Mutation_p.S396T|SLC8A3_uc001xlx.3_Missense_Mutation_p.S396T|SLC8A3_uc001xlz.3_Missense_Mutation_p.S396T|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 396 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AAGACCTTGGAAATAAAGTCC 0.517000 61 26 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899221 112899221 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:112899221C>T uc004bei.2 + 8 2285 c.2093C>T c.(2092-2094)cCt>cTt p.P698L PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.P466L|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.P466L|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.P276L|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.P324L|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.P324L|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.P284L|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.P235L|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.P235L NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 235 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAGAAGAATCCTGGCATTGCA 0.522000 4 49 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90146076 90146076 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:90146076C>G uc002boe.3 + 12 2617 c.2617C>G c.(2617-2619)Ctt>Gtt p.L873V C15orf42_uc021sug.1_Missense_Mutation_p.L872V NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 873 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TTCACAGAATCTTCGACAAAT 0.303000 9 10 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003217 23003217 + Missense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:23003217T>G uc003xcz.1 - 4 792 c.700A>C c.(700-702)Aag>Cag p.K234Q NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 234 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity p.K234K(1) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) ATGAATTTCTTCCGACATGAA 0.517000 49 18 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64210724 64210724 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:64210724C>T uc002jfn.4 - 6 888 c.829G>A c.(829-831)Gga>Aga p.G277R NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 277 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) ACTCTCTCTCCTTGGTACACC 0.353000 10 36 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179977461 179977461 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179977461A>T uc002uni.4 - 16 2101 c.1951T>A c.(1951-1953)Tat>Aat p.Y651N SESTD1_uc002unh.4_Missense_Mutation_p.Y154N NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 651 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CCATCAGGATAAACTACTGGA 0.338000 27 30 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116812057 116812057 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:116812057C>T uc004bid.3 + 14 2574 c.2475C>T c.(2473-2475)atC>atT p.I825I ZNF618_uc004bic.3_Silent_p.I732I|ZNF618_uc011lxi.2_Silent_p.I792I|ZNF618_uc011lxj.2_Silent_p.I793I|ZNF618_uc010mvb.3_Silent_p.I415I NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 825 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACGAGGAGATCATCGGCAAGG 0.637000 6 65 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254555 3254555 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:3254555C>T uc010uwu.2 + 0 309 c.309C>T c.(307-309)ttC>ttT p.F103F NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 AGATGTATTTCGTTTTCATGT 0.493000 124 79 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381566 81381566 + Silent SNP C T T rs137853235 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:81381566C>T uc003uhl.3 - 4 660 c.495G>A c.(493-495)tcG>tcA p.S165S HGF_uc003uhm.3_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.3_Silent_p.S165S NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 165 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCCGATAGCTCGAAGGCAAAA 0.403000 45 16 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165703450 165703450 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:165703450C>T uc003qum.4 - 6 1263 c.1227G>A c.(1225-1227)ctG>ctA p.L409L C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 409 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) TTTCTTTTTCCAGAGCTTGTA 0.323000 10 18 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47918528 47918528 + Nonsense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:47918528A>T uc002let.3 + 6 863 c.679A>T c.(679-681)Aag>Tag p.K227* SKA1_uc002leu.3_Nonsense_Mutation_p.K227*|SKA1_uc010xdl.2_Nonsense_Mutation_p.K181* NM_145060 NP_659497 Q96BD8 SKA1_HUMAN Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA. 227 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 AGCTGACAAGAAGTTTCACGT 0.393000 70 14 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575193 74575193 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:74575193C>T uc001dfy.4 - 4 944 c.752G>A c.(751-753)aGa>aAa p.R251K LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 251 p.R251R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCATATCCTCTAATAATTTT 0.318000 6 47 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99225895 99225895 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:99225895A>G uc001tge.2 - 17 3215 c.2798T>C c.(2797-2799)aTt>aCt p.I933T ANKS1B_uc001tgf.2_Missense_Mutation_p.I509T|ANKS1B_uc001tgk.3_Missense_Mutation_p.I230T|ANKS1B_uc010svd.2_5'UTR|ANKS1B_uc001tgd.2_Missense_Mutation_p.I159T|ANKS1B_uc009ztp.3_5'UTR|ANKS1B_uc010svf.2_5'UTR|ANKS1B_uc010sve.2_5'UTR|ANKS1B_uc001tgh.4_5'UTR|ANKS1B_uc009ztr.3_Missense_Mutation_p.I159T|ANKS1B_uc001tgj.3_Missense_Mutation_p.I159T|ANKS1B_uc001tgi.3_Missense_Mutation_p.I159T|ANKS1B_uc009zts.2_Missense_Mutation_p.I159T|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Missense_Mutation_p.I128T NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 933 SAM 2. 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) CCTGTGGCCAATCAAATTGAT 0.423000 2 2 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27168930 27168930 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:27168930G>A uc003sym.4 - 1 924 c.877C>T c.(877-879)Cca>Tca p.P293S HOXA3_uc003syk.3_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN Homo sapiens homeobox A4 (HOXA4), mRNA. 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 TTCCCTGGTGGGCCGGCAGAG 0.562000 32 40 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129769350 129769350 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:129769350C>T uc003vpj.2 + 8 1188 c.1053C>T c.(1051-1053)ttC>ttT p.F351F KLHDC10_uc003vpk.2_Silent_p.F322F|KLHDC10_uc010lmb.2_Silent_p.F248F NM_014997 NP_055812 Q6PID8 KLD10_HUMAN Homo sapiens kelch domain containing 10 (KLHDC10), mRNA. 351 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 TGCAGACTTTCCAATGGGTGA 0.408000 52 45 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 19062415 19062415 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:19062415C>T uc001bay.3 + 7 2043 c.1445C>T c.(1444-1446)tCt>tTt p.S482F PAX7_uc001baz.3_Missense_Mutation_p.S480F|PAX7_uc010oct.2_Intron NM_002584 NP_002575 P23759 PAX7_HUMAN Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA. 482 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CCCATTCCTTCTCCCACCCCC 0.607000 T FOXO1A alveolar rhabdomyosarcoma 5 59 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369489 56369489 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:56369489G>A uc002qmd.4 + 2 1152 c.730G>A c.(730-732)Gat>Aat p.D244N NLRP4_uc002qmf.3_Missense_Mutation_p.D169N|NLRP4_uc010etf.3_Missense_Mutation_p.D75N NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 244 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAACGAACCCGATTCGGATCT 0.562000 49 38 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36143410 36143410 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:36143410A>C uc003jkb.1 - 1 457 c.42T>G c.(40-42)ttT>ttG p.F14L NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 14 integral to membrane p.V13F(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGCCAGAAAAAAGACAAAAA 0.368000 22 43 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130777906 130777906 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:130777906C>T uc003ysr.3 - 3 1420 c.538G>A c.(538-540)Ggg>Agg p.G180R NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 180 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GCAATTTTCCCTAAAATATTC 0.448000 184 56 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936445 54936445 + Silent SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:54936445G>T uc001sgc.4 + 30 3439 c.3360G>T c.(3358-3360)gtG>gtT p.V1120V NCKAP1L_uc010sox.2_Silent_p.V662V|NCKAP1L_uc010soy.2_Silent_p.V1070V NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 1120 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATCGGGAGGTGTCTCGGGCCT 0.537000 44 16 2.32078e-09 2.32581e-09 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180338561 180338561 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:180338561C>T uc003mmp.3 + 2 854 c.620C>T c.(619-621)tCc>tTc p.S207F BTNL8_uc003mmq.3_Missense_Mutation_p.S207F|BTNL8_uc010jll.3_Missense_Mutation_p.S207F|BTNL8_uc011dhg.2_Missense_Mutation_p.S82F|BTNL8_uc010jlm.3_Missense_Mutation_p.S91F|BTNL8_uc011dhh.2_Missense_Mutation_p.S23F NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 207 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|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) ATATCCTGTTCCATGCGGCAT 0.547000 72 26 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24921762 24921762 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:24921762G>A uc003aaf.3 + 9 2450 c.1155G>A c.(1153-1155)taG>taA p.*385* UPB1_uc003aae.3_Silent_p.*317*|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 0 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TGAAAGAGTAGCCGGCTTCAG 0.542000 OREG0026412 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 71 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639949 97639949 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:97639949C>T uc001vmx.1 - 3 309 c.65G>A c.(64-66)gGa>gAa p.G22E OXGR1_uc010afr.1_Missense_Mutation_p.G22E|OXGR1_uc021rlr.1_Missense_Mutation_p.G22E NM_080818 NP_543008 Q96P68 OXGR1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA. 22 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.G22V(2) NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AGTGCAATTTCCAAAAGCAGC 0.418000 43 23 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220366257 220366257 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:220366257C>T uc002vlv.3 + 3 573 c.198C>T c.(196-198)acC>acT p.T66T GMPPA_uc002vlr.3_Silent_p.T66T NM_205847 NP_995319 Q96IJ6 GMPPA_HUMAN Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA. 66 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity p.L65fs*5(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) AGCCCCTCACCCAGTTCCTAG 0.532000 95 41 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816266 82816266 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:82816266G>A uc003kii.3 + 6 2497 c.2141G>A c.(2140-2142)gGa>gAa p.G714E VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G714E|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 714 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCATTTATGGGAAAAACAGAA 0.363000 49 13 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4944542 4944542 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:4944542C>T uc002cyd.1 - 11 1410 c.1320G>A c.(1318-1320)ggG>ggA p.G440G NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 440 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCAGCTTGTTCCCAGCGCTGT 0.637000 49 36 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139277951 139277951 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:139277951C>T uc003yuy.3 - 3 463 c.292G>A c.(292-294)Gaa>Aaa p.E98K FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 98 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTACCCTTTCACCACCCAAG 0.463000 HNSCC(54;0.14) 58 30 0 0 1 0 0 AGR2 10551 broad.mit.edu 37 7 16841388 16841388 + Silent SNP G T T rs142256080 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:16841388G>T uc003str.3 - 1 220 c.33C>A c.(31-33)ctC>ctA p.L11L AGR2_uc011jxy.2_Silent_p.L11L NM_006408 NP_006399 O95994 AGR2_HUMAN Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA. 11 mucus secretion endoplasmic reticulum|extracellular region protein binding endometrium(2)|lung(1)|prostate(1)|skin(2) 6 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GGGCCACAAGGAGCAAGAATG 0.478000 23 21 1.28384e-07 1.28523e-07 1 1 0 CYTIP 9595 broad.mit.edu 37 2 158272554 158272554 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:158272554G>A uc002tzj.1 - 7 787 c.715C>T c.(715-717)Cga>Tga p.R239* CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133* NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 239 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CTGGATAATCGATTCCGGTCC 0.542000 21 12 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42606416 42606416 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:42606416G>A uc003bcj.1 - 0 5030 c.4896C>T c.(4894-4896)taC>taT p.Y1632Y TCF20_uc003bck.1_Silent_p.Y1632Y NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGATGTAAGGGTAAAAAGACT 0.428000 91 103 0 0 1 0 0 GTPBP6 8225 broad.mit.edu 37 X 224139 224139 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:224139G>A uc004cpe.1 - 4 629 c.628C>T c.(628-630)Ctg>Ttg p.L210L NM_012227 NP_036359 O43824 GTPB6_HUMAN Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA. 439 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGGCCCCGCAGGGCAGACACG 0.672000 15 9 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63175670 63175670 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:63175670G>A uc001nww.3 + 7 1643 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 459 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CCATGGAAATGAAGTAATTCC 0.453000 18 16 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053144 15053144 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:15053144C>T uc010xoc.2 + 0 844 c.844C>T c.(844-846)Ccc>Tcc p.P282S NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CATGGTCACCCCCATGCTGAA 0.547000 48 35 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401043 89401043 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:89401043C>T uc010upo.1 + 11 5601 c.5227C>T c.(5227-5229)Cct>Tct p.P1743S ACAN_uc010upp.1_Missense_Mutation_p.P1743S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1743 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ATCAGGGTTTCCTGACACTAG 0.522000 64 90 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129760637 129760637 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:129760637C>T uc003vpj.2 + 3 659 c.524C>T c.(523-525)cCa>cTa p.P175L KLHDC10_uc003vpk.2_Missense_Mutation_p.P146L|KLHDC10_uc010lmb.2_Missense_Mutation_p.P72L NM_014997 NP_055812 Q6PID8 KLD10_HUMAN Homo sapiens kelch domain containing 10 (KLHDC10), mRNA. 175 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 ACGGGCATCCCATTTGGAGAG 0.463000 58 80 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787215 8787215 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:8787215G>A uc003bra.3 + 1 195 c.118G>A c.(118-120)Gat>Aat p.D40N C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.D40N NM_001234 NP_001225 P56539 CAV3_HUMAN Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. 40 T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CCTGCAGGTGGATTTTGAAGA 0.557000 12 3 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158617379 158617379 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:158617379C>T uc001fst.1 - 26 4045 c.3846G>A c.(3844-3846)aaG>aaA p.K1282K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1282 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1281C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTAGGCTCTCCTTACGATCCT 0.537000 5 116 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88890400 88890400 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:88890400G>A uc002stc.4 - 4 1240 c.938C>T c.(937-939)tCg>tTg p.S313L NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 313 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GTCAGCAACCGAAACCTTTAT 0.418000 85 43 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112440037 112440037 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:112440037A>C uc003kql.4 - 6 1459 c.1043T>G c.(1042-1044)cTg>cGg p.L348R MCC_uc003kqj.4_Missense_Mutation_p.L158R|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.L158R|MCC_uc010jcd.1_Missense_Mutation_p.L120R NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 158 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTCTGAGTTCAGGTCACTGCA 0.517000 39 269 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46795743 46795743 + Silent SNP G A A rs141170525 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:46795743G>A uc003bhw.1 - 9 5283 c.5283C>T c.(5281-5283)tcC>tcT p.S1761S CELSR1_uc011arc.1_Silent_p.S82S NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1761 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACAGCATCACGGACTCCACAT 0.567000 34 27 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136252 55136252 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55136252C>T uc010rif.2 + 0 893 c.893C>T c.(892-894)tCc>tTc p.S298F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATTGATAAATCCATGACTGTA 0.403000 151 34 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646521 19646521 + Missense_Mutation SNP T A A rs117328009 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:19646521T>A uc002gwk.3 - 1 431 c.168A>T c.(166-168)gaA>gaT p.E56D ALDH3A1_uc010cqu.3_Intron|ALDH3A1_uc010vzd.2_Intron|ALDH3A1_uc002gwj.3_Intron|ALDH3A1_uc010cqv.3_Intron|ALDH3A1_uc002gwl.1_Intron P30838 AL3A1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA. 0 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) CTCCCCCAGCTTCCCTTCCCA 0.627000 3 19 0 0 1 0 0 FSHB 2488 broad.mit.edu 37 11 30253528 30253528 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:30253528A>T uc001msl.3 + 1 148 c.79A>T c.(79-81)Acc>Tcc p.T27S FSHB_uc001msm.3_Missense_Mutation_p.T27S|FSHB_uc001msn.3_Missense_Mutation_p.T27S NM_000510 NP_001018090 P01225 FSHB_HUMAN Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA. 27 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GACCAACATCACCATTGCAAT 0.453000 17 32 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189153 38189153 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:38189153G>A uc002ohc.2 - 4 2475 c.1879C>T c.(1879-1881)Cac>Tac p.H627Y ZNF607_uc002ohb.2_Missense_Mutation_p.H626Y NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GAGGCACAGTGAAATGCCTTC 0.378000 16 13 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150464597 150464597 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:150464597G>A uc003qnt.3 + 0 410 c.269G>A c.(268-270)tGg>tAg p.W90* NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA. 90 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) CTGGAGGAATGGATCGTGGAG 0.627000 13 7 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958589 121958589 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:121958589G>A uc003idq.1 - 3 1064 c.537C>T c.(535-537)gaC>gaT p.D179D NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 179 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CTACTCTTGGGTCATAGGGTA 0.483000 88 47 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270358 1270358 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:1270358G>A uc001lta.3 + 30 12307 c.12248G>A c.(12247-12249)gGg>gAg p.G4083E NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4083 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCTTCCCCAGGGACGACCACC 0.701000 90 19 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32754731 32754731 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:32754731C>T uc011axj.1 + 4 700 c.623C>T c.(622-624)gCc>gTc p.A208V CNOT10_uc011axi.1_Intron|CNOT10_uc003cfc.1_Missense_Mutation_p.A148V|CNOT10_uc003cfd.1_Missense_Mutation_p.A147V|CNOT10_uc003cfe.1_Missense_Mutation_p.A148V|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA. 148 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 GAAAAATTTGCCCAAGCAGTG 0.363000 33 8 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32053982 32053982 + Silent SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:32053982T>G uc003jhl.3 + 9 2281 c.1893T>G c.(1891-1893)ctT>ctG p.L631L PDZD2_uc003jhm.3_Silent_p.L631L|PDZD2_uc011cnx.1_Silent_p.L457L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 631 PDZ 3. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACGGAAGACTTAAAGAAGGTA 0.473000 26 63 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68326138 68326138 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:68326138G>T uc001onv.3 + 7 1103 c.836G>T c.(835-837)cGa>cTa p.R279L PPP6R3_uc001onw.3_Missense_Mutation_p.R279L|PPP6R3_uc001ony.4_Missense_Mutation_p.R279L|PPP6R3_uc001onx.3_Missense_Mutation_p.R279L|PPP6R3_uc009ysh.3_Missense_Mutation_p.R279L|PPP6R3_uc001onu.3_Missense_Mutation_p.R279L|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 279 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTTGAGACACGACGACCAACG 0.348000 29 52 4.29476e-34 4.35115e-34 1 1 0 NOLC1 9221 broad.mit.edu 37 10 103919770 103919770 + Missense_Mutation SNP G C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:103919770G>C uc001kup.2 + 7 1242 c.1007G>C c.(1006-1008)aGt>aCt p.S336T NOLC1_uc001kuo.2_Missense_Mutation_p.S326T|NOLC1_uc001kuq.2_Missense_Mutation_p.S327T|NOLC1_uc009xxb.1_Missense_Mutation_p.S45T|NOLC1_uc001kur.2_Missense_Mutation_p.S45T NM_004741 NP_004732 Q14978 NOLC1_HUMAN Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA. 326 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GAAGACAGCAGTGATGAGTCT 0.587000 0 6 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151740640 151740640 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:151740640G>A uc010pdm.2 + 3 477 c.407G>A c.(406-408)gGc>gAc p.G136D OAZ3_uc010pdl.2_Missense_Mutation_p.G92D NM_016178 NP_057262 Q9UMX2 OAZ3_HUMAN Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA. 89 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity p.G136C(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) CATTGGCACGGCCTTCTCTGT 0.567000 1 45 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72137929 72137929 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:72137929C>T uc001xms.3 + 7 2710 c.2349C>T c.(2347-2349)ttC>ttT p.F783F SIPA1L1_uc001xmt.3_Silent_p.F783F|SIPA1L1_uc001xmu.3_Silent_p.F783F|SIPA1L1_uc001xmv.3_Silent_p.F783F|SIPA1L1_uc010ttm.2_Silent_p.F258F NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 783 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCAGGGACTTCCTTTTGGCGA 0.498000 84 39 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58204181 58204181 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:58204181G>A uc001sqj.2 - 5 741 c.712C>T c.(712-714)Cct>Tct p.P238S AVIL_uc009zqe.2_Missense_Mutation_p.P231S|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.P215S|JA611266_uc021qzr.1_5'Flank NM_006576 NP_006567 O75366 AVIL_HUMAN Homo sapiens advillin (AVIL), mRNA. 238 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) ATCTCATCAGGGACTGTAGGC 0.512000 19 20 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50346415 50346415 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:50346415G>A uc002xwg.1 - 1 171 c.171C>T c.(169-171)gtC>gtT p.V57V ATP9A_uc010gih.1_Silent_p.V42V NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 57 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 GATTGTTGATGACATTCCGAG 0.547000 83 75 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88912640 88912640 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:88912640C>T uc001tav.3 - 3 392 c.197G>A c.(196-198)aGt>aAt p.S66N KITLG_uc009zsn.3_5'UTR|KITLG_uc001taw.3_Missense_Mutation_p.S66N|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 66 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 CCAACAATGACTTGGCTGCAA 0.353000 Testicular Cancer, Familial Clustering of 19 8 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687925 60687925 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:60687925C>T uc002sae.1 - 3 2350 c.2122G>A c.(2122-2124)Gga>Aga p.G708R BCL11A_uc002sab.3_Missense_Mutation_p.G708R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G377R|BCL11A_uc010ypj.2_Missense_Mutation_p.G674R|BCL11A_uc002sad.1_Missense_Mutation_p.G556R|BCL11A_uc002saf.1_Missense_Mutation_p.G674R NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 708 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGATCCCTCCGTCCAGCTCC 0.657000 T IGH@ B-CLL 43 54 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21330947 21330947 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:21330947G>A uc002kuq.3 + 4 836 c.750G>A c.(748-750)agG>agA p.R250R LAMA3_uc010dlv.2_Silent_p.R250R|LAMA3_uc002kur.3_Silent_p.R250R NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 250 Laminin N-terminal. 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) ACACCCTGAGGGAGTTTACCA 0.458000 89 12 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325284 77325284 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:77325284C>T uc002ffc.4 - 20 3700 c.3281G>A c.(3280-3282)cGa>cAa p.R1094Q NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1094 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R1094Q(4) 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 ACGGCATCTTCGCTCTGGGAA 0.522000 124 144 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23189627 23189627 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:23189627T>C uc009vqj.1 + 3 1054 c.909T>C c.(907-909)tgT>tgC p.C303C EPHB2_uc001bge.3_Silent_p.C303C|EPHB2_uc001bgf.3_Silent_p.C303C|EPHB2_uc010odu.2_Silent_p.C303C NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 303 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCACCAACTGTGTCTGCCGCA 0.602000 98 9 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10697801 10697801 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:10697801A>G uc002kos.2 - 40 6607 c.6433T>C c.(6433-6435)Tat>Cat p.Y2145H PIEZO2_uc002koq.3_5'UTR NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2145 integral to membrane ion channel activity TTTTCCATATAAAGTTCCCTT 0.363000 35 5 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222291272 222291272 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:222291272G>A uc002vmq.3 - 15 2800 c.2758C>T c.(2758-2760)Ctc>Ttc p.L920F EPHA4_uc002vmr.2_Missense_Mutation_p.L920F|EPHA4_uc010zlm.1_Missense_Mutation_p.L861F NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 920 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATGGCCTGGAGCCAATCGCCC 0.468000 12 14 0 0 1 0 0 MOBP 4336 broad.mit.edu 37 3 39543680 39543680 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:39543680G>A uc003cjv.3 + 2 370 c.120G>A c.(118-120)gtG>gtA p.V40V MOBP_uc003cju.3_Silent_p.V40V|MOBP_uc003cjw.3_Non-coding_Transcript|MOBP_uc010hht.3_Silent_p.V40V|MOBP_uc003cjx.3_Non-coding_Transcript|MOBP_uc003cjy.3_Non-coding_Transcript NM_182935 NP_891980 Q13875 MOBP_HUMAN Homo sapiens myelin-associated oligodendrocyte basic protein (MOBP), mRNA. 40 nervous system development nucleolus|perinuclear region of cytoplasm|soluble fraction central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998) AGGAGATAGTGGATCGGAAAT 0.542000 42 17 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10224058 10224058 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:10224058G>A uc001qxb.3 - 5 801 c.717C>T c.(715-717)atC>atT p.I239I CLEC1A_uc001qxd.3_Silent_p.I196I|CLEC1A_uc010sgx.2_Silent_p.I137I NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA. 239 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 TCCCATTAAGGATGGCCACAC 0.433000 43 67 0 0 1 0 0 NDUFA6 4700 broad.mit.edu 37 22 42483172 42483172 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:42483172T>C uc003bcb.3 - 1 287 c.225A>G c.(223-225)caA>caG p.Q75Q NM_002490 NP_002481 P56556 NDUA6_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa (NDUFA6), nuclear gene encoding mitochondrial protein, mRNA. 75 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 NADH(DB00157) CCAGCTGGAATTGGTGCACTA 0.428000 88 43 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44684346 44684346 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:44684346T>A uc003cnm.3 + 5 1930 c.1724T>A c.(1723-1725)tTc>tAc p.F575Y ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 575 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F575L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GGAAAAGTTTTCATTCGAAGC 0.403000 14 38 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92101078 92101078 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:92101078G>A uc010tif.2 + 1 593 c.227G>A c.(226-228)aGa>aAa p.R76K NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 76 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATGGAGGAGAGATATCAGATT 0.428000 37 106 0 0 1 0 0 PHF17 79960 broad.mit.edu 37 4 129782889 129782889 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:129782889C>T uc011cgy.2 + 8 1326 c.1012C>T c.(1012-1014)Cat>Tat p.H338Y PHF17_uc003igj.3_Missense_Mutation_p.H338Y|PHF17_uc003igk.3_Missense_Mutation_p.H338Y|PHF17_uc003igl.3_Missense_Mutation_p.H326Y|PHF17_uc003igm.3_Missense_Mutation_p.H338Y NM_199320 NP_955352 Q6IE81 JADE1_HUMAN Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA. 338 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CACAGCCTTCCATGTGACCTG 0.483000 66 40 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396306 65396306 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:65396306C>T uc001oey.2 + 23 3828 c.3828C>T c.(3826-3828)ttC>ttT p.F1276F PCNXL3_uc001oez.2_Silent_p.F163F NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1276 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCATGCTGTTCGTCCAGGCCC 0.667000 10 14 0 0 1 0 0 HOXD12 3238 broad.mit.edu 37 2 176964539 176964539 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:176964539C>T uc010zev.1 + 0 10 c.10C>T c.(10-12)Cgc>Tgc p.R4C HOXD12_uc021vsp.1_Missense_Mutation_p.R4C NM_021193 NP_067016 P35452 HXD12_HUMAN Homo sapiens homeobox D12 (HOXD12), mRNA. 4 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) GATGTGTGAGCGCAGTCTCTA 0.542000 127 4 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96454741 96454741 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:96454741C>T uc001kjv.4 + 3 875 c.549C>T c.(547-549)ttC>ttT p.F183F CYP2C19_uc001kjw.4_Silent_p.F183F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 183 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CTGTTATTTTCCATGATCGAT 0.393000 13 45 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83935762 83935762 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:83935762G>A uc002bjt.1 - 2 349 c.261C>T c.(259-261)tcC>tcT p.S87S BNC1_uc010uos.1_Silent_p.S75S NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 87 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ACACTACATTGGACTGGACAA 0.458000 39 20 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70034817 70034817 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:70034817C>T uc010kak.3 + 19 3144 c.2868C>T c.(2866-2868)ttC>ttT p.F956F BAI3_uc003pev.4_Silent_p.F956F|BAI3_uc011dxx.2_Silent_p.F162F NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 956 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGCTTCATTCTGTTGGGTTT 0.433000 17 30 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281999 152281999 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152281999C>T uc001ezu.1 - 2 5399 c.5363G>A c.(5362-5364)gGa>gAa p.G1788E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1788 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTTGTCTTCCTCCAGTGCT 0.597000 Ichthyosis 30 517 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46965077 46965077 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:46965077C>T uc001jea.3 - 5 1021 c.868G>A c.(868-870)Gac>Aac p.D290N SYT15_uc001jdz.2_Missense_Mutation_p.D290N|SYT15_uc001jeb.3_Missense_Mutation_p.D168N|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 290 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CTCAGGTAGTCGTTGTAGCTG 0.622000 19 12 0 0 1 0 0 ATG16L2 89849 broad.mit.edu 37 11 72535790 72535790 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:72535790G>A uc001otd.3 + 8 939 c.899G>A c.(898-900)aGg>aAg p.R300K ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.3_Missense_Mutation_p.R194K|ATG16L2_uc009ytj.2_Intron NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA. 300 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) TTTAAGAAGAGGAGAGGTCAC 0.582000 32 10 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53509922 53509922 + Silent SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:53509922T>A uc001sbv.3 + 6 838 c.750T>A c.(748-750)gcT>gcA p.A250A SOAT2_uc009zms.3_Non-coding_Transcript NM_003578 NP_003569 O75908 SOAT2_HUMAN Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA. 250 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TGAGAGAGGCTGTGCCTGGGA 0.532000 33 20 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915041 48915041 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:48915041C>T uc002rwu.4 - 10 1965 c.1895G>A c.(1894-1896)aGa>aAa p.R632K STON1-GTF2A1L_uc021vhf.1_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 632 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAAGAAATCTCTTTGGAATGT 0.358000 104 61 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104511031 104511031 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:104511031G>A uc003hxe.1 - 4 1347 c.1206C>T c.(1204-1206)acC>acT p.T402T NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 402 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TTCTGGTCACGGTGTACATAC 0.502000 91 95 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105662801 105662801 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:105662801G>A uc003vdl.4 + 13 2091 c.1983G>A c.(1981-1983)agG>agA p.R661R CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Silent_p.R648R|CDHR3_uc011klt.2_Silent_p.R573R|CDHR3_uc003vdn.3_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 661 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 TGTCTGACAGGAAGAAAGCGG 0.478000 85 85 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89971215 89971215 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:89971215G>A uc003kju.3 + 23 5362 c.5266G>A c.(5266-5268)Gaa>Aaa p.E1756K GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1756 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) GGTGACTGCGGAATTTAGAAC 0.453000 13 24 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50906827 50906828 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:50906827_50906828CC>TT uc010eny.3 + 8 1216_1217 c.1215_1216CC>TT c.(1213-1218)tacctc>taTTtc p.L406F POLD1_uc002psb.4_Missense_Mutation_p.L406F|POLD1_uc002psc.4_Missense_Mutation_p.L406F|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 406 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) ACCTTCCGTACCTCATCTCTCG 0.629000 DNA polymerases (catalytic subunits) 76 59 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234249108 234249108 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:234249108G>A uc002vuh.2 + 12 1418 c.1030G>A c.(1030-1032)Gga>Aga p.G344R SAG_uc010zmq.1_Missense_Mutation_p.G210R NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 344 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TAGCTTTCTGGGAGAGCTCAC 0.478000 7 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179554089 179554089 + Missense_Mutation SNP G C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179554089G>C uc021vsy.1 - 120 28432 c.28207C>G c.(28207-28209)Cca>Gca p.P9403A TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6064A|TTN_uc010fre.1_Missense_Mutation_p.P514A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10330 Ig-like 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTTCTTTGGTATTTCTGGC 0.368000 24 9 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76660395 76660395 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:76660395C>T uc003pik.1 - 12 1838 c.1708G>A c.(1708-1710)Ggc>Agc p.G570S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 570 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.G570G(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AGCTCTCGGCCCTTGGGGGCA 0.498000 35 9 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411077 105411078 + Missense_Mutation DNP GG AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:105411077_105411078GG>AA uc010axc.1 - 6 10830_10831 c.10710_10711CC>TT c.(10708-10713)gacctc>gaTTtc p.L3571F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L3471F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3571 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) GGGCCCTTGAGGTCCACTTTGG 0.614000 110 37 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99454470 99454470 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:99454470C>T uc003ury.1 + 8 916 c.813C>T c.(811-813)ttC>ttT p.F271F CYP3A43_uc003urx.1_Silent_p.F271F|CYP3A43_uc003urz.1_Silent_p.F271F|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.F161F|CYP3A43_uc003usb.1_Silent_p.F131F NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 271 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GAGTAGATTTCTTTCAACAGA 0.443000 47 53 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9404510 9404510 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:9404510C>T uc021wam.1 + 23 2414 c.2399C>T c.(2398-2400)tCc>tTc p.S800F PLCB4_uc010gbw.1_Missense_Mutation_p.S800F|PLCB4_uc010gbx.3_Missense_Mutation_p.S812F|PLCB4_uc021wal.1_Missense_Mutation_p.S800F|PLCB4_uc002wnh.3_Missense_Mutation_p.S647F NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 800 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CGACACATTTCCCTTCGAAAT 0.418000 47 24 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023639 18023639 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:18023639G>A uc021trm.1 + 0 1744 c.1525G>A c.(1525-1527)Gat>Aat p.D509N MYO15A_uc021trl.1_Missense_Mutation_p.D509N NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 509 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCCCTTGGGGGATGCGGACGA 0.652000 3 34 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154960749 154960749 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:154960749C>T uc001fgf.2 + 1 942 c.541C>T c.(541-543)Ccc>Tcc p.P181S FLAD1_uc001fgc.3_Missense_Mutation_p.P82S|FLAD1_uc001fgd.2_Missense_Mutation_p.P181S|FLAD1_uc001fge.2_Missense_Mutation_p.P84S|FLAD1_uc001fgg.2_Missense_Mutation_p.P84S|FLAD1_uc021paj.1_Missense_Mutation_p.P82S|FLAD1_uc001fgh.1_5'UTR NM_025207 NP_958800 Q8NFF5 FAD1_HUMAN Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA. 181 Molybdenum cofactor biosynthesis protein- like. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGCATCGGCCCCACTCATGA 0.567000 11 156 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181598 128181598 + Missense_Mutation SNP A G G rs147724414 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:128181598A>G uc003ekk.1 - 2 2152 c.491T>C c.(490-492)tTc>tCc p.F164S DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.F164S NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 164 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGTGGATGAGAAGGTGGTGTG 0.602000 28 4 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7983597 7983597 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:7983597T>A uc002gjy.1 - 5 971 c.710A>T c.(709-711)aAg>aTg p.K237M BC046191_uc010cnq.2_Non-coding_Transcript NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 237 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CCTAATGTCCTTCAGCCTCTT 0.582000 Multiple Myeloma(8;0.094) OREG0024153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 89 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471397 4471397 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:4471397C>T uc001lyz.2 + 0 873 c.828C>T c.(826-828)atC>atT p.I276I NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA. 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTCCACATCCTCCTTGCCA 0.498000 93 22 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110782767 110782767 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:110782767C>T uc001tqk.4 + 16 3161 c.2598C>T c.(2596-2598)ttC>ttT p.F866F ATP2A2_uc001tql.4_Silent_p.F866F|ATP2A2_uc021rdt.1_Silent_p.F714F|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 866 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GAGTGTCCTTCTACCAGCTGG 0.498000 34 11 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 76003131 76003131 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:76003131G>A uc003kek.3 + 35 4943 c.4721G>A c.(4720-4722)gGa>gAa p.G1574E IQGAP2_uc011csv.2_Missense_Mutation_p.G1070E|IQGAP2_uc003kel.3_Missense_Mutation_p.G1070E NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1574 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AAGTTCTATGGAAAGTGAAGT 0.313000 21 33 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452820 48452820 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:48452820G>T uc002iqs.2 + 1 333 c.251G>T c.(250-252)aGc>aTc p.S84I MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.S84I NM_152463 NP_689676 Q96AY2 EME1_HUMAN Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA. 84 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) AGGTTGCTAAGCAGTGAAAGT 0.468000 Direct reversal of damage;Homologous recombination 6 56 1.03172e-35 1.04641e-35 1 1 0 FSTL4 23105 broad.mit.edu 37 5 132648406 132648406 + Nonsense_Mutation SNP G A A rs148048628 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:132648406G>A uc003kyn.1 - 5 885 c.667C>T c.(667-669)Cga>Tga p.R223* NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 223 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCGTCAAATCGGAGGAGGTCA 0.527000 4 15 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148699221 148699221 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:148699221C>G uc003lqh.3 + 12 1687 c.1556C>G c.(1555-1557)gCg>gGg p.A519G AFAP1L1_uc010jgy.3_Missense_Mutation_p.A519G|AFAP1L1_uc003lqi.2_Missense_Mutation_p.A134G NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA. 519 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCGGAGGCGCTGCACTAT 0.597000 16 89 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873930 36873930 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:36873930C>T uc003cgj.3 - 20 7260 c.7012G>A c.(7012-7014)Gga>Aga p.G2338R NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2338 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTTCTATTCCTTTTATCCTG 0.493000 81 19 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14041539 14041539 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:14041539C>T uc002dce.2 + 10 2095 c.2086C>T c.(2086-2088)Cca>Tca p.P696S ERCC4_uc010uyz.1_Missense_Mutation_p.P246S NM_005236 NP_005227 Q92889 XPF_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA. 696 ERCC4.|Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AAGTGAGCTTCCATCTCTGAT 0.468000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 55 65 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35186362 35186362 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:35186362C>T uc002yta.1 + 21 2981 c.2713C>T c.(2713-2715)Cct>Tct p.P905S DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P784S|ITSN1_uc002ysy.3_Missense_Mutation_p.P900S|ITSN1_uc002ysx.3_Missense_Mutation_p.P863S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P900S|ITSN1_uc010gmg.3_Missense_Mutation_p.P863S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P905S|ITSN1_uc010gmi.3_Missense_Mutation_p.P868S|ITSN1_uc002ytb.1_Missense_Mutation_p.P900S|ITSN1_uc002ytc.1_Missense_Mutation_p.P900S|ITSN1_uc010gmk.3_Missense_Mutation_p.P868S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P900S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P839S|ITSN1_uc021wip.1_Missense_Mutation_p.P794S|ITSN1_uc002ytf.1_Non-coding_Transcript NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 905 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CTCCCCGTCTCCTGTGCTAGG 0.547000 16 12 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112070435 112070435 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:112070435G>A uc001pnf.3 + 5 867 c.750G>A c.(748-750)aaG>aaA p.K250K BCO2_uc001pne.1_Silent_p.K77K|BCO2_uc001png.3_Silent_p.K177K|BCO2_uc001pnh.3_Silent_p.K216K|BCO2_uc010rwt.2_Silent_p.K145K|BCO2_uc009yyn.3_Silent_p.K216K|BCO2_uc001pni.3_Silent_p.K216K NM_031938 NP_001032367 Q9BYV7 BCDO2_HUMAN Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA. 250 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TCTCCTATAAGGTTATTCGGG 0.408000 49 15 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28857705 28857705 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:28857705G>A uc003szq.3 + 9 1662 c.1272G>A c.(1270-1272)ttG>ttA p.L424L CREB5_uc003szo.3_Silent_p.L391L|CREB5_uc003szr.3_Silent_p.L417L|CREB5_uc003szs.3_Silent_p.L285L NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 424 Leucine-zipper. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TGTCTATGTTGAAAAATGAGG 0.393000 37 39 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13214578 13214578 + Missense_Mutation SNP T A A rs113723432 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:13214578T>A uc001rbi.3 + 3 625 c.602T>A c.(601-603)cTt>cAt p.L201H KIAA1467_uc021qvn.1_5'Flank NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 201 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGGTCTAGTCTTCTCCCTGAG 0.488000 9 17 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70514279 70514279 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:70514279G>T uc004dzo.3 + 5 1261 c.551G>T c.(550-552)cGa>cTa p.R184L BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.R184L|NONO_uc004dzp.3_Missense_Mutation_p.R184L|NONO_uc011mpv.2_Missense_Mutation_p.R95L|NONO_uc004dzq.3_Missense_Mutation_p.R53L NM_001145408 NP_001138882 Q15233 NONO_HUMAN Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA. 184 DBHS.|RRM 2. DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|identical protein binding|nucleotide binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) GTGGATGATCGAGGAAGGCCC 0.517000 T TFE3 papillary renal cancer 4 26 5.61819e-17 5.65483e-17 1 1 0 BMP5 653 broad.mit.edu 37 6 55623867 55623867 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:55623867C>T uc003pcq.3 - 5 1863 c.1151G>A c.(1150-1152)gGa>gAa p.G384E BMP5_uc011dxf.2_Intron NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 384 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AGAACATTCTCCATCACAATA 0.363000 62 35 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 236979789 236979789 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:236979789C>T uc001hyi.4 + 7 1133 c.710C>T c.(709-711)tCc>tTc p.S237F MTR_uc010pxv.1_Non-coding_Transcript|MTR_uc010pxw.2_5'UTR|MTR_uc010pxx.2_Missense_Mutation_p.S237F|MTR_uc010pxy.2_Missense_Mutation_p.S237F|MTR_uc009xgj.1_Missense_Mutation_p.P68S NM_000254 NP_000245 Q99707 METH_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA. 237 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CGGACTCTTTCCGGACAGACA 0.408000 4 98 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854861 88854861 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:88854861G>A uc010kbz.3 - 1 263 c.133C>T c.(133-135)Cca>Tca p.P45S CNR1_uc011dzr.2_Missense_Mutation_p.P45S|CNR1_uc011dzs.2_Missense_Mutation_p.P45S|CNR1_uc003pmq.4_Missense_Mutation_p.P45S|CNR1_uc011dzt.2_Missense_Mutation_p.P45S|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.P45S NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 45 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AATTTCTGTGGGAAGTACCCT 0.502000 20 20 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127415 152127415 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152127415C>T uc001ezs.1 - 2 2225 c.2160G>A c.(2158-2160)gaG>gaA p.E720E NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 720 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTTCCTGACTCTCATGGCTGT 0.562000 19 297 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167288995 167288995 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:167288995C>T uc002udu.2 - 14 2555 c.2425G>A c.(2425-2427)Gaa>Aaa p.E809K SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 809 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTGCTTTTTTCCTTATCTTTG 0.398000 64 57 0 0 1 0 0 IGF2-AS 51214 broad.mit.edu 37 11 2161903 2161903 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:2161903G>A uc010qxi.2 + 0 146 c.30G>A c.(28-30)cgG>cgA p.R10R IGF2_uc001lvg.3_5'Flank|IGF2_uc009ydf.3_Intron|IGF2_uc021qcb.1_Intron|IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Non-coding_Transcript Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA. GCGGATTTCGGGGCGCCCAGC 0.711000 3 20 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13162787 13162787 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:13162787C>T uc003wwm.2 - 4 1783 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K DLC1_uc003wwn.3_Missense_Mutation_p.E447K|DLC1_uc011kxy.2_Missense_Mutation_p.E447K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 447 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCAGCCTTTTCCTTCTCTGAA 0.284000 38 21 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016845 58016845 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:58016845C>T uc001spe.3 + 6 1289 c.978C>T c.(976-978)tcC>tcT p.S326S SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 326 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TCATCTCCTCCCTCTTCTCTT 0.537000 171 56 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84666268 84666268 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:84666268C>T uc003uic.3 - 9 1168 c.1128G>A c.(1126-1128)aaG>aaA p.K376K SEMA3D_uc010led.3_Silent_p.K376K|SEMA3D_uc003uib.3_Silent_p.K15K NM_152754 NP_689967 O95025 SEM3D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA. 376 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CTGCACTTTCCTTATGAGCAT 0.398000 47 45 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34666392 34666392 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:34666392G>A uc001bxt.3 + 2 1867 c.1029G>A c.(1027-1029)aaG>aaA p.K343K C1orf94_uc001bxs.4_Silent_p.K153K NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 153 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CTGGCACCAAGGAGCCAAAAA 0.562000 6 93 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48629399 48629399 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:48629399G>A uc003ctz.2 - 9 1290 c.1289C>T c.(1288-1290)tCc>tTc p.S430F NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 430 Fibronectin type-III 3.|Nonhelical region (NC1). 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) AAGGAGGATGGATGTGGGGCC 0.657000 93 19 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68992730 68992730 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:68992730G>A uc003xxv.1 + 15 1722 c.1695G>A c.(1693-1695)tcG>tcA p.S565S PREX2_uc003xxu.1_Silent_p.S565S|PREX2_uc011lez.1_Silent_p.S500S NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 565 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.S565fs*3(2)|p.S565L(1) 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 GTTTTTTTTCGGATGAGGAAA 0.323000 25 9 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22170655 22170655 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:22170655G>A uc009vqd.3 - 64 8645 c.8605C>T c.(8605-8607)Cct>Tct p.P2869S HSPG2_uc001bfj.3_Missense_Mutation_p.P2868S NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2868 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCGGGCAGGGAGGTTTCCT 0.632000 10 90 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24441235 24441235 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:24441235G>A uc002kwa.3 - 2 535 c.472C>T c.(472-474)Cat>Tat p.H158Y AQP4_uc002kvz.3_Missense_Mutation_p.H136Y NM_001650 NP_001641 P55087 AQP4_HUMAN Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA. 158 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) AGGAGACCATGACCAGCGGTA 0.368000 46 11 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39917506 39917506 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:39917506C>T uc003axz.3 + 1 336 c.56C>T c.(55-57)cCc>cTc p.P19L ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.3_Missense_Mutation_p.P19L|ATF4_uc021wpy.1_5'Flank|ATF4_uc021wpz.1_5'Flank NM_182810 NP_877962 P18848 ATF4_HUMAN Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA. 19 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) TTGATGTCCCCCTTCGACCAG 0.537000 29 40 0 0 1 0 0 TM4SF1 4071 broad.mit.edu 37 3 149095217 149095217 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:149095217C>T uc003exb.1 - 0 352 c.118G>A c.(118-120)Gaa>Aaa p.E40K TM4SF1_uc003exc.1_5'Flank NM_014220 NP_055035 P30408 T4S1_HUMAN Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA. 40 integral to plasma membrane endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AGGTGGTTTTCGGAGGCATAC 0.502000 27 10 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999199 92999199 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:92999199C>T uc022axs.1 - 8 1356 c.1169_splice c.e8-1 p.G390_splice RUNX1T1_uc003yfc.2_Splice_Site_p.G304_splice|RUNX1T1_uc010mam.3_Splice_Site_p.G304_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.G294_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.G331_splice|RUNX1T1_uc022axo.1_Splice_Site_p.G331_splice|RUNX1T1_uc010mao.3_Splice_Site_p.G304_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.G342_splice|RUNX1T1_uc022axp.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axq.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axr.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axt.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axu.1_Splice_Site_p.G311_splice|RUNX1T1_uc022axv.1_Splice_Site_p.G331_splice|RUNX1T1_uc010man.2_Splice_Site|RUNX1T1_uc003yfb.2_Splice_Site_p.G294_splice NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 331 generation of precursor metabolites and energy 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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCATGCAACCCTACAAAAA 0.413000 133 48 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49666088 49666088 + Missense_Mutation SNP C T T rs141421430 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:49666088C>T uc003ozn.2 - 6 640 c.404G>A c.(403-405)gGa>gAa p.G135E CRISP2_uc003ozr.2_Missense_Mutation_p.G135E|CRISP2_uc003ozo.2_Missense_Mutation_p.G135E|CRISP2_uc003ozm.2_Missense_Mutation_p.G135E|CRISP2_uc003ozp.2_Missense_Mutation_p.G135E|CRISP2_uc003ozq.2_Missense_Mutation_p.G135E|CRISP2_uc003ozl.2_Missense_Mutation_p.G135E NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 135 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AGTATAATGTCCAACAACTGC 0.398000 25 18 0 0 1 0 0 DPH1 1801 broad.mit.edu 37 17 1936816 1936816 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:1936816C>T uc010vqs.2 + 0 130 c.124C>T c.(124-126)Cgc>Tgc p.R42C DPH1_uc002fts.3_Missense_Mutation_p.R32C|DPH1_uc002ftt.3_Missense_Mutation_p.R27C|DPH1_uc010cjx.3_5'UTR NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 32 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCCTCGGGGCCGCGTGGCCAA 0.562000 11 59 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773434 141773434 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:141773434C>T uc002tvj.1 - 12 2993 c.2021G>A c.(2020-2022)gGa>gAa p.G674E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 674 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.V673L(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCAATCCTTCCCACGCTGTC 0.413000 TSP Lung(27;0.18) 25 37 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29551258 29551258 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:29551258G>A uc002rmy.3 - 5 2324 c.1372C>T c.(1372-1374)Cac>Tac p.H458Y NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 458 LDL-receptor class A. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.H458Q(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CAGTCCTGGTGGAAGTCACAG 0.607000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 49 31 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34490046 34490046 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:34490046G>A uc003zum.3 + 5 618 c.425G>A c.(424-426)gGa>gAa p.G142E NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 142 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TCAGAAACAGGAAACCTCGAA 0.493000 Kartagener syndrome 0 25 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004259 75004259 + Missense_Mutation SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:75004259C>A uc004ecj.2 - 0 821 c.628G>T c.(628-630)Gat>Tat p.D210Y NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 210 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGAGGCTTATCCCACATATCA 0.507000 6 28 3.69857e-22 3.73487e-22 1 1 0 MYH6 4624 broad.mit.edu 37 14 23874314 23874314 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:23874314G>A uc001wjv.3 - 5 596 c.525C>T c.(523-525)ctC>ctT p.L175L MYH6_uc010akp.2_Silent_p.L175L NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 175 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCACGTGATGAGGATGGACT 0.577000 21 6 0 0 1 0 0 TMEM68 137695 broad.mit.edu 37 8 56668963 56668963 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:56668963T>A uc003xsg.1 - 1 402 c.333A>T c.(331-333)gaA>gaT p.E111D TMEM68_uc003xsh.1_Missense_Mutation_p.E111D NM_152417 NP_689630 Q96MH6 TMM68_HUMAN Homo sapiens transmembrane protein 68 (TMEM68), mRNA. 111 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) TTCCATGAACTTCATAACCTG 0.299000 30 14 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168151452 168151452 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:168151452C>T uc010jjg.3 - 20 2728 c.2308G>A c.(2308-2310)Gag>Aag p.E770K SLIT3_uc003mab.3_Missense_Mutation_p.E770K NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 770 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCGGACAGCTCTCTGGGCACG 0.512000 64 7 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024143 76024143 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:76024143C>T uc010kbe.3 - 5 1944 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K FILIP1_uc003phy.1_Missense_Mutation_p.E469K|FILIP1_uc003phz.3_Missense_Mutation_p.E370K|FILIP1_uc003pia.3_Missense_Mutation_p.E469K|FILIP1_uc003pib.1_Missense_Mutation_p.E221K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 469 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACCTCCAATTCATTTAGCAGG 0.363000 21 31 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150555993 150555993 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:150555993G>A uc003why.1 + 3 5931 c.1713G>A c.(1711-1713)agG>agA p.R571R ABP1_uc003whz.1_Silent_p.R571R|ABP1_uc003wia.1_Silent_p.R571R NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 571 Heparin-binding (By similarity). amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GCTTCAAAAGGAAGCTGCCTA 0.632000 11 11 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700673 136700673 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:136700673G>A uc003vtf.1 + 3 1684 c.1061G>A c.(1060-1062)gGa>gAa p.G354E CHRM2_uc003vtg.1_Missense_Mutation_p.G354E|CHRM2_uc003vti.1_Missense_Mutation_p.G354E|CHRM2_uc003vtm.1_Missense_Mutation_p.G354E|CHRM2_uc003vtj.1_Missense_Mutation_p.G354E|CHRM2_uc003vtk.1_Missense_Mutation_p.G354E|CHRM2_uc003vtl.1_Missense_Mutation_p.G354E|CHRM2_uc003vtn.1_Missense_Mutation_p.G354E|CHRM2_uc003vto.1_Missense_Mutation_p.G354E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G354E NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 354 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GGTCAGAATGGAGATGAAAAG 0.473000 60 25 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61944505 61944506 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:61944505_61944506CC>TT uc011aau.2 + 16 2213_2214 c.2113_2114CC>TT c.(2113-2115)cct>TTt p.P705F COL20A1_uc011aav.2_Missense_Mutation_p.P526F NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 705 Fibronectin type-III 5. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGCCGTCCTGCCTGGCCTAGGG 0.673000 16 18 0 0 1 0 0 ZNF7 7553 broad.mit.edu 37 8 146067840 146067840 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:146067840T>A uc010mge.3 + 4 1518 c.1381T>A c.(1381-1383)Ttt>Att p.F461I ZNF7_uc003zeg.4_Missense_Mutation_p.F450I|ZNF7_uc011lln.2_Missense_Mutation_p.F354I|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.F354I|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN Homo sapiens zinc finger protein 7 (ZNF7), mRNA. 450 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TACAAAAGCCTTTGGTTGTAG 0.448000 131 26 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1649497 1649497 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:1649497C>T uc003wpl.3 + 11 2950 c.2853C>T c.(2851-2853)tcC>tcT p.S951S DLGAP2_uc003wpm.3_Silent_p.S937S NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 1030 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGCGGCGTCCTTCCGGCAGA 0.667000 2 3 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66603284 66603284 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:66603284C>T uc001sth.3 + 2 467 c.365C>T c.(364-366)cCa>cTa p.P122L IRAK3_uc010ssy.2_Missense_Mutation_p.P61L NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 122 MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GGTGGATTTCCAAATATATTA 0.353000 18 19 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473139 105473141 + Missense_Mutation DNP AC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:105473139_105473141AC>TT uc010ywg.2 + 0 1171_1173 c.1171_1173AC>TT c.(1171-1173)acc>TT p.T391del NM_006236 NP_006227 P20264 PO3F3_HUMAN Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA. 391 metanephric DCT cell differentiation|metanephric ascending thin limb development|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGACTCAAGCACCGGCAGCCCCA 0.631000 17 11 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656627 12656627 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:12656627C>T uc002gno.2 + 9 2321 c.2022C>T c.(2020-2022)gtC>gtT p.V674V MYOCD_uc002gnn.2_Silent_p.V674V|MYOCD_uc002gnp.1_Silent_p.V578V|MYOCD_uc002gnq.2_Silent_p.V393V NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 647 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGCACAGGGTCTCCTCGCCCA 0.572000 6 31 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88912642 88912642 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:88912642T>C uc001tav.3 - 3 390 c.195A>G c.(193-195)ccA>ccG p.P65P KITLG_uc009zsn.3_5'UTR|KITLG_uc001taw.3_Silent_p.P65P|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 65 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 AACAATGACTTGGCTGCAAGA 0.348000 Testicular Cancer, Familial Clustering of 20 8 0 0 1 0 0 C5orf44 80006 broad.mit.edu 37 5 64954239 64954239 + Silent SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:64954239C>G uc003jua.4 + 8 939 c.609C>G c.(607-609)acC>acG p.T203T C5orf44_uc003jtz.4_Silent_p.T203T|C5orf44_uc010iwv.3_Silent_p.T197T|C5orf44_uc003juc.4_Silent_p.T197T NM_001093755 NP_001087224 A5PLN9 CE044_HUMAN Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA. 203 kidney(4)|large_intestine(2)|lung(1)|ovary(1) 8 ATATGACAACCTCACCTATGT 0.353000 22 7 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479734 4479734 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:4479734G>A uc001qmq.1 - 2 677 c.531C>T c.(529-531)caC>caT p.H177H NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. 177 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.R176Q(1)|p.R176R(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CGCTCCGGGTGTGCCGCCGTG 0.677000 19 24 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 36950061 36950061 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:36950061C>T uc001zje.4 + 4 551 c.301C>T c.(301-303)Cgg>Tgg p.R101W C15orf41_uc010bbb.1_Missense_Mutation_p.R3W|C15orf41_uc001zjf.3_Missense_Mutation_p.R3W|C15orf41_uc010uci.2_Missense_Mutation_p.R3W NM_001130010 NP_115888 Q9Y2V0 CO041_HUMAN Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA. 101 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) ATTAATGGCTCGGCTTATACT 0.403000 12 13 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136212 74136212 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:74136212C>T uc002jqx.3 - 1 620 c.265G>A c.(265-267)Ggc>Agc p.G89S LOC100507218_uc002jqy.2_5'Flank NM_001454 NP_001445 Q92949 FOXJ1_HUMAN Homo sapiens forkhead box J1 (FOXJ1), mRNA. 89 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GTGGGCTTGCCCGGCGTGTGT 0.766000 1 13 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757009 56757009 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:56757009G>A uc010rjp.2 + 0 621 c.621G>A c.(619-621)ttG>ttA p.L207L NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GATCTAACTTGATATTCACTG 0.403000 90 26 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119674001 119674001 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:119674001G>A uc003ici.4 - 11 1736 c.1464C>T c.(1462-1464)atC>atT p.I488I SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.I489I|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript NM_014822 NP_055637 O94855 SC24D_HUMAN Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA. 488 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TGTTATATGTGATAAAACCCA 0.378000 20 20 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15607794 15607794 + Missense_Mutation SNP A T T rs143212851 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:15607794A>T uc002rcc.1 - 17 2038 c.2012T>A c.(2011-2013)tTt>tAt p.F671Y NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 671 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTACTTGGAAAAGTTCACTAA 0.323000 13 7 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115580985 115580985 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:115580985C>T uc003vhj.2 - 8 917 c.664_splice c.e8-1 p.E222_splice TFEC_uc003vhm.2_Splice_Site_p.E155_splice|TFEC_uc003vhk.2_Splice_Site_p.E193_splice|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 222 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.E222K(1) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ATTTCTAGTTCCTGTAATTTC 0.378000 54 17 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339381 19339381 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:19339381G>A uc002nlz.3 + 7 3051 c.2952G>A c.(2950-2952)tgG>tgA p.W984* NCAN_uc010ecc.1_Nonsense_Mutation_p.W548* NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 984 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AGAGCTTCTGGGAGGAGGTGG 0.642000 71 43 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149255 73149255 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:73149255G>A uc003hgk.2 - 21 3253 c.3216C>T c.(3214-3216)gtC>gtT p.V1072V NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 1072 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGTTAGAGATGACATCATCAT 0.458000 75 37 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52561857 52561857 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:52561857G>A uc003den.3 - 7 963 c.923C>T c.(922-924)cCt>cTt p.P308L NT5DC2_uc003dem.3_Missense_Mutation_p.P141L|NT5DC2_uc010hmi.3_Missense_Mutation_p.P283L|NT5DC2_uc010hmj.3_Missense_Mutation_p.P87L|NT5DC2_uc003deo.3_Missense_Mutation_p.P271L NM_001134231 NP_001127703 Q9H857 NT5D2_HUMAN Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA. 271 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GAAGCTGAAAGGACTGTTGGT 0.612000 46 6 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322712 150322712 + RNA SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:150322712G>A uc003qnq.3 - 1 c.165C>T Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA. TGAAGAAAAGGCCTTTCATCC 0.443000 49 22 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95552643 95552643 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:95552643C>T uc001kjc.4 + 5 983 c.647C>T c.(646-648)tCg>tTg p.S216L LGI1_uc021pwk.1_Missense_Mutation_p.S216L|LGI1_uc010qnv.2_Missense_Mutation_p.S168L|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 216 LRRCT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) AGTCTCTCCTCGAAGGATTTT 0.418000 11 48 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55446002 55446002 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:55446002C>T uc002qih.4 - 6 2402 c.2326G>A c.(2326-2328)Gag>Aag p.E776K NLRP7_uc010esk.3_Missense_Mutation_p.E776K|NLRP7_uc002qig.4_Missense_Mutation_p.E748K|NLRP7_uc002qii.4_Missense_Mutation_p.E776K|NLRP7_uc010esl.3_Missense_Mutation_p.E804K NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 776 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCCCACTGCTCCGGGGTGGCA 0.507000 16 16 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124228357 124228357 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:124228357C>T uc001ufr.3 + 9 1312 c.1064C>T c.(1063-1065)tCa>tTa p.S355L NM_012463 NP_036595 Q9Y487 VPP2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA. 355 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ACAATCCCCTCATTCATGAAT 0.413000 37 48 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111229570 111229570 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:111229570T>A uc001plg.4 - 1 345 c.90A>T c.(88-90)gaA>gaT p.E30D NM_006235 NP_006226 Q16633 OBF1_HUMAN Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA. 30 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TCCTCAGCAGTTCCTTCACTG 0.627000 T BCL6 NHL 10 15 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729656 62729656 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:62729656C>T uc002yic.3 + 4 1036 c.617C>T c.(616-618)aCc>aTc p.T206I OPRL1_uc002yid.3_Missense_Mutation_p.T206I|OPRL1_uc021wgs.1_Missense_Mutation_p.T206I|OPRL1_uc002yif.4_Missense_Mutation_p.T201I NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 206 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding p.P205L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GAGATCCCTACCCCTCAGGAT 0.612000 50 35 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14273446 14273446 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:14273446C>T uc010xnn.2 - 5 1478 c.1182G>A c.(1180-1182)ctG>ctA p.L394L LPHN1_uc010xno.2_Silent_p.L389L|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 394 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCCCGAACTCCAGGCTGTAGC 0.617000 54 45 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143344 61143344 + RNA SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:61143344C>T uc002ycy.3 - 4 c.1337G>A C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA. TGGCAGGGCCCTCCCCTGGAC 0.687000 29 21 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717576 13717576 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:13717576G>A uc003jfd.2 - 72 12595 c.12553C>T c.(12553-12555)Ctg>Ttg p.L4185L DNAH5_uc003jfc.2_Silent_p.L353L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4185 AAA 6 (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) ACTGCGTACAGCATGGGCTTC 0.527000 Kartagener syndrome 11 24 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133372319 133372319 + Silent SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:133372319T>A uc003eps.3 - 6 924 c.792A>T c.(790-792)acA>acT p.T264T NM_007027 NP_008958 Q92547 TOPB1_HUMAN Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA. 264 BRCT 2. DNA repair|response to ionizing radiation PML body|microtubule organizing center|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AAAACCACTGTGTGGTCACAC 0.388000 Other conserved DNA damage response genes 15 25 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17919150 17919150 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:17919150C>T uc002nhl.1 + 1 681 c.534C>T c.(532-534)ttC>ttT p.F178F B3GNT3_uc010ebd.1_Silent_p.F178F|B3GNT3_uc010ebe.1_Silent_p.F178F NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 178 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 AGTGGGACTTCCACGACTCCT 0.617000 27 18 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109309808 109309808 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:109309808G>A uc003psu.3 - 8 1939 c.1507C>T c.(1507-1509)Cct>Tct p.P503S SESN1_uc021zdp.1_Missense_Mutation_p.P378S|SESN1_uc003pst.4_Missense_Mutation_p.P444S NM_014454 NP_001186863 Q9Y6P5 SESN1_HUMAN Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA. 444 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) ACCTTTTCAGGAGTGCAAACA 0.353000 15 10 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C G G rs143004725 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:12885059C>G uc001auk.2 - 3 1248 c.1052G>C c.(1051-1053)tGc>tCc p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 351 p.C351S(2) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGTGGCCATGCAGATGGGATT 0.532000 241 4 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554838 40554838 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:40554838G>A uc003xnr.3 - 3 421 c.275C>T c.(274-276)tCc>tTc p.S92F ZMAT4_uc003xns.3_Missense_Mutation_p.S92F NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA. 92 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TTGATAATGGGAATCGGCCAC 0.502000 9 49 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7439335 7439335 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:7439335C>T uc001mfe.3 + 4 1550 c.1313C>T c.(1312-1314)tCc>tTc p.S438F SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 438 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATCCACTTGTCCATAGCAGTC 0.502000 58 20 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8230222 8230222 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:8230222C>T uc003gkv.4 + 11 2902 c.2801C>T c.(2800-2802)tCg>tTg p.S934L SH3TC1_uc003gkw.4_Missense_Mutation_p.S858L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 934 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CGGCTGTTCTCGAGGCTGCCC 0.711000 35 25 0 0 1 0 0 ZFP106 64397 broad.mit.edu 37 15 42742291 42742291 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:42742291G>A uc001zpw.3 - 1 2437 c.2110C>T c.(2110-2112)Caa>Taa p.Q704* ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.Q487*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.Q727* NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 704 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TCACTTTTTTGAAGCTCTGCA 0.463000 77 49 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41065497 41065497 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:41065497G>A uc003jmj.4 - 3 787 c.297C>T c.(295-297)ttC>ttT p.F99F HEATR7B2_uc021xxt.1_Silent_p.F99F NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 99 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 CTAAGATCCTGAAGTTACTTT 0.438000 46 25 0 0 1 0 0 AK302694 0 broad.mit.edu 37 10 30993500 30993500 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:30993500C>T uc010qdx.1 + 6 1196 c.654C>T c.(652-654)tcC>tcT p.S218S SubName: Full=cDNA FLJ59642, highly similar to Supervillin; CCAGTGTCTCCGTGGATGTCT 0.552000 20 11 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7160794 7160794 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:7160794C>T uc002qys.3 + 5 934 c.492C>T c.(490-492)ttC>ttT p.F164F NM_014746 NP_055561 P50876 R144A_HUMAN Homo sapiens ring finger protein 144A (RNF144A), mRNA. 164 Golgi apparatus|integral to membrane ligase activity|zinc ion binding p.F164F(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CGATCACCTTCCTCCCCGGGG 0.592000 68 48 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51510800 51510800 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:51510800G>A uc001zyz.4 - 6 932 c.681C>T c.(679-681)ctC>ctT p.L227L CYP19A1_uc001zza.4_Silent_p.L227L|CYP19A1_uc001zzb.2_Silent_p.L227L|CYP19A1_uc001zzc.1_5'Flank NM_031226 NP_112503 P11511 CP19A_HUMAN Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA. 227 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GTTTGATGAGGAGAGCTTGCC 0.343000 17 14 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33532873 33532873 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:33532873C>T uc001rll.1 - 5 1691 c.1394G>A c.(1393-1395)gGa>gAa p.G465E SYT10_uc009zju.1_Missense_Mutation_p.G275E NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 465 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCTGCACACTCCTATGACCTC 0.433000 48 18 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33592331 33592331 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:33592331C>T uc001rll.1 - 0 424 c.127G>A c.(127-129)Ggc>Agc p.G43S SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 43 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CCCTGGCTGCCCCTGTCCCGA 0.682000 38 38 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38412643 38412643 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:38412643G>A uc003jlc.2 + 10 1733 c.1387G>A c.(1387-1389)Gag>Aag p.E463K EGFLAM_uc003jlb.2_Missense_Mutation_p.E463K|EGFLAM_uc003jle.2_Missense_Mutation_p.E229K|EGFLAM_uc003jlf.2_5'UTR NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 463 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CATCGTAAGTGAGACCAAAAT 0.488000 53 62 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642549 129642549 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:129642549C>T uc022bnn.1 + 0 859 c.859C>T c.(859-861)Caa>Taa p.Q287* ZBTB34_uc004bqm.4_Nonsense_Mutation_p.Q287* NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA. 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CTCCTATTCCCAAGCAGCCTC 0.527000 1 29 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45877282 45877282 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:45877282C>T uc021wjs.1 + 0 755 c.755C>T c.(754-756)cCc>cTc p.P252L LRRC3_uc002zfa.3_Missense_Mutation_p.P252L NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA. 252 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) TCCAAGGACCCCATCGGCCCG 0.637000 39 26 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101315335 101315335 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:101315335G>A uc001vot.3 - 4 748 c.435C>T c.(433-435)ttC>ttT p.F145F TMTC4_uc001vou.3_Silent_p.F126F|TMTC4_uc010tja.2_Intron NM_032813 NP_001073137 Q5T4D3 TMTC4_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA. 126 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) ACAGAACCGAGAAGACGTCCA 0.612000 195 49 0 0 1 0 0 WBP1L 54838 broad.mit.edu 37 10 104572878 104572878 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:104572878C>T uc001kwf.4 + 3 966 c.882C>T c.(880-882)atC>atT p.I294I WBP1L_uc009xxg.1_Intron|WBP1L_uc001kwe.4_Silent_p.I273I NM_001083913 NP_001077382 Q9NX94 OPA1L_HUMAN Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA. 273 integral to membrane ACACACTCATCGATGATGCTC 0.592000 11 45 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124632017 124632017 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:124632017C>T uc003ehq.2 - 7 1191 c.1152G>A c.(1150-1152)ggG>ggA p.G384G NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 384 EGF-like 3. 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 ACTCAGGGGCCCCACCACTCT 0.468000 24 39 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141283880 141283880 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:141283880C>T uc002tvj.1 - 47 8774 c.7802G>A c.(7801-7803)gGg>gAg p.G2601E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2601 LDL-receptor class A 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D2600Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATACAAGTCCCATCTGCACA 0.418000 TSP Lung(27;0.18) 16 12 0 0 1 0 0 PRSS33 260429 broad.mit.edu 37 16 2836100 2836100 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:2836100C>T uc002cro.1 - 1 229 c.69G>A c.(67-69)agG>agA p.R23R PRSS33_uc002crp.1_Silent_p.R23R NM_152891 NP_690851 Q8NF86 PRS33_HUMAN Homo sapiens protease, serine, 33 (PRSS33), mRNA. 23 proteolysis serine-type endopeptidase activity prostate(1) 1 CTGCAGACTTCCTTCCCTGAG 0.612000 29 22 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120774830 120774830 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:120774830G>A uc003you.3 - 18 2653 c.2383C>T c.(2383-2385)Cgt>Tgt p.R795C NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 795 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTCTGCACGATAATAGTTA 0.318000 56 24 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428585 10428585 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:10428585C>T uc010coi.3 - 32 4746 c.4618G>A c.(4618-4620)Gaa>Aaa p.E1540K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1540K|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. 1540 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 TTTTCTTGTTCCACTTGTTTC 0.373000 7 26 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26628171 26628171 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:26628171G>A uc003xfc.1 - 1 1332 c.896C>T c.(895-897)cCt>cTt p.P299L ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.P299L|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.P299L|ADRA1A_uc003xfh.1_Missense_Mutation_p.P299L NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 299 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGAAATCAGGGAAGAAAGA 0.393000 51 28 0 0 1 0 0 LOC100131347 100131347 broad.mit.edu 37 17 37263806 37263806 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:37263806G>A uc002hrf.1 + 2 361 c.330G>A c.(328-330)tgG>tgA p.W110* PLXDC1_uc002hrg.2_Intron|PLXDC1_uc002hrh.2_Intron|PLXDC1_uc002hri.2_Intron|PLXDC1_uc002hrj.1_Intron|PLXDC1_uc002hrk.1_Intron Homo sapiens RAD52 motif 1 pseudogene (LOC100131347), non-coding RNA. GACCCGGCTGGACGGGAGATC 0.577000 4 20 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148068950 148068950 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:148068950G>A uc004fcp.3 + 19 4156 c.3677G>A c.(3676-3678)gGg>gAg p.G1226E AFF2_uc004fcq.3_Missense_Mutation_p.G1216E|AFF2_uc004fcr.3_Missense_Mutation_p.G1187E|AFF2_uc011mxb.2_Missense_Mutation_p.G1191E|AFF2_uc004fcs.3_Missense_Mutation_p.G1191E|AFF2_uc011mxc.2_Missense_Mutation_p.G867E NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1226 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AACGCAATGGGGAACTGTAAC 0.522000 1 48 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459388 162459388 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:162459388G>A uc003iqh.3 - 9 1678 c.1242C>T c.(1240-1242)atC>atT p.I414I FSTL5_uc003iqi.3_Silent_p.I413I|FSTL5_uc010iqv.3_Silent_p.I413I NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 414 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CATTCTTTGCGATACAAGTGT 0.423000 54 70 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398252 89398253 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:89398252_89398253CC>TT uc010upo.1 + 11 2810_2811 c.2436_2437CC>TT c.(2434-2439)ttcccc>ttTTcc p.P813S ACAN_uc010upp.1_Missense_Mutation_p.P813S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 813 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGAGGCCATTCCCCTCAGTGGA 0.604000 12 4 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155156047 155156047 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:155156047C>T uc003inw.2 - 24 8392 c.8392G>A c.(8392-8394)Gat>Aat p.D2798N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2798 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTGCAATATCATTAAATACT 0.393000 66 67 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170042066 170042066 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:170042066G>A uc002ues.3 - 49 10005 c.9792C>T c.(9790-9792)atC>atT p.I3264I NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 3264 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGTGGTTTATGATTGTCTCCT 0.358000 20 30 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417353 70417353 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:70417353G>A uc002lkw.3 - 8 1769 c.1485C>T c.(1483-1485)atC>atT p.I495I NETO1_uc002lky.2_Silent_p.I495I NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 495 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.I495I(2) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCACCTCTTCGATTTCATCTA 0.468000 7 34 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61914862 61914862 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:61914862G>A uc010deb.1 - 1 657 c.340C>T c.(340-342)Cca>Tca p.P114S SMARCD2_uc010wpt.1_Missense_Mutation_p.P66S|SMARCD2_uc010dea.1_Missense_Mutation_p.P39S NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA. 114 Pro-rich. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 TTTCGGAATGGATCCATCATG 0.642000 12 56 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080990 54080990 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:54080990C>T uc002qbx.1 + 6 2610 c.1176C>T c.(1174-1176)ttC>ttT p.F392F ZNF331_uc002qby.1_Silent_p.F392F|ZNF331_uc002qbz.1_Silent_p.F392F|ZNF331_uc010eqr.1_Silent_p.F392F|ZNF331_uc002qca.1_Silent_p.F392F|ZNF331_uc021uzg.1_Silent_p.F392F|ZNF331_uc021uzh.1_Silent_p.F392F|ZNF331_uc002qcb.1_Silent_p.F392F|ZNF331_uc002qcc.1_Silent_p.F392F|ZNF331_uc002qcd.1_Silent_p.F392F NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GGAAGGCTTTCATTTATGGAT 0.488000 T ? follicular thyroid adenoma 21 14 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38798180 38798180 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:38798180C>T uc003gtl.3 - 3 2547 c.2273G>A c.(2272-2274)tGg>tAg p.W758* TLR1_uc021xnn.1_Nonsense_Mutation_p.W758* NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 758 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TTCCTTGGGCCATTCCAAATA 0.433000 37 30 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103663574 103663574 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:103663574G>A uc011lhk.1 - 2 1140 c.986C>T c.(985-987)tCa>tTa p.S329L KLF10_uc011lhj.1_Missense_Mutation_p.S318L NM_005655 NP_005646 Q13118 KLF10_HUMAN Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA. 329 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CGGAGGCTTTGAACTCTGCAC 0.577000 111 79 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140308409 140308409 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140308409A>G uc003lih.2 + 0 2108 c.1932A>G c.(1930-1932)ccA>ccG p.P644P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.P644P NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 668 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) ATGGAGACCCACCACTTTCCT 0.522000 37 139 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563962 58563962 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:58563962G>A uc002qrc.1 + 4 817 c.570G>A c.(568-570)gcG>gcA p.A190A NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A190V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) ACACCAGGGCGGAGGCCGAAG 0.612000 24 33 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78320598 78320598 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:78320598C>T uc002jyh.2 + 29 8753 c.8610C>T c.(8608-8610)acC>acT p.T2870T RNF213_uc021uen.1_Silent_p.T2821T NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCATCAGCACCTTCCGGCAGT 0.622000 7 23 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817110 69817110 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:69817110C>T uc003hef.2 - 0 400 c.369G>A c.(367-369)atG>atA p.M123I UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 123 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 TCTCACACATCATTTTTAAAG 0.373000 43 22 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985487 140985487 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:140985487C>T uc011mwp.2 + 7 1801 c.1801C>T c.(1801-1803)Cca>Tca p.P601S MAGEC3_uc004fbs.3_3'UTR|MAGEC3_uc010nsj.3_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 601 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) TAGTGCCTTTCCATCCTGGTA 0.478000 9 50 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141730496 141730496 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:141730496G>A uc003vwy.3 + 11 1463 c.1409G>A c.(1408-1410)aGg>aAg p.R470K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 470 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCATATGACAGGGGTTCAGAT 0.468000 43 59 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839838 62839838 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:62839838A>G uc002yii.3 + 6 1653 c.1289A>G c.(1288-1290)aAa>aGa p.K430R MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Missense_Mutation_p.K62R NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 430 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TACTACAGTAAAGGTAGGGCT 0.652000 27 12 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75843694 75843694 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:75843694C>T uc021zbv.1 - 31 5579 c.5544G>A c.(5542-5544)agG>agA p.R1848R COL12A1_uc021zbw.1_Silent_p.R684R|COL12A1_uc003phs.3_Silent_p.R1848R|COL12A1_uc003pht.3_Silent_p.R684R NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1848 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTCTCAGGTTCCTTACAGTGT 0.458000 11 3 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73044523 73044523 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:73044523G>A uc001jro.3 + 2 802 c.351G>A c.(349-351)gtG>gtA p.V117V UNC5B_uc001jrp.3_Silent_p.V117V NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 117 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GGCAGCAGGTGGAGGAGCTCT 0.662000 10 34 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25924106 25924106 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:25924106C>T uc011dkb.2 - 1 140 c.57G>A c.(55-57)ggG>ggA p.G19G SLC17A2_uc011dkc.2_Silent_p.G19G|SLC17A2_uc003nfl.3_Silent_p.G19G O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 19 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TAAGAGCCAGCCCATAGCGTA 0.473000 26 8 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256409 63256409 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:63256409G>A uc011cqt.2 - 0 1138 c.1138C>T c.(1138-1140)Ctg>Ttg p.L380L NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 380 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCGCCCAACAGGGTGGGCATG 0.527000 74 170 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111789239 111789239 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:111789239G>A uc010yxk.1 + 14 1541 c.1317G>A c.(1315-1317)tgG>tgA p.W439* ACOXL_uc021vmm.1_Nonsense_Mutation_p.W292*|ACOXL_uc021vmn.1_Nonsense_Mutation_p.W262* NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 469 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TCCATGCCTGGAACTCGTGTC 0.458000 34 29 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130380672 130380672 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:130380672G>A uc010htl.3 + 33 6053 c.6022G>A c.(6022-6024)Gac>Aac p.D2008N COL6A6_uc003eni.4_Missense_Mutation_p.D107N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 2008 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGTCACTGGAGACCGGGTGGC 0.493000 9 23 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144800414 144800414 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:144800414C>T uc003yzj.3 + 3 269 c.228C>T c.(226-228)ctC>ctT p.L76L NM_139021 NP_620590 Q8TD08 MK15_HUMAN Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA. 76 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCATCAGCCTCCTTGACGTGA 0.622000 83 52 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25364203 25364203 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:25364203C>T uc003xep.1 + 14 2498 c.2021C>T c.(2020-2022)tCt>tTt p.S674F DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S659F|CDCA2_uc003xer.1_Missense_Mutation_p.S337F NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 674 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AATGCTACTTCTGATGAAGAT 0.313000 32 38 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55145132 55145132 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:55145132C>T uc002qgj.3 + 8 1645 c.1305C>T c.(1303-1305)tcC>tcT p.S435S LILRB1_uc010erp.1_Silent_p.S50S|LILRB1_uc002qgl.3_Silent_p.S435S|LILRB1_uc002qgk.3_Silent_p.S435S|LILRB1_uc002qgm.3_Silent_p.S435S|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 435 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCCCCACCTCCACATCTGGTG 0.622000 HNSCC(37;0.09) 15 10 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148601541 148601541 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:148601541C>T uc003ewm.3 + 8 972 c.920C>T c.(919-921)tCc>tTc p.S307F NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 307 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CATTCCTACTCCCAGATGCTA 0.428000 63 12 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65298833 65298833 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:65298833C>T uc002sdl.4 + 2 817 c.603C>T c.(601-603)tcC>tcT p.S201S CEP68_uc002sdj.2_Silent_p.S201S|CEP68_uc010yqb.1_Silent_p.S201S|CEP68_uc002sdk.4_Silent_p.S201S|CEP68_uc010yqc.2_Silent_p.S201S|CEP68_uc010yqd.1_Silent_p.S201S NM_015147 NP_055962 Q76N32 CEP68_HUMAN Homo sapiens centrosomal protein 68kDa (CEP68), mRNA. 201 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TCTCTGCTTCCTCCACAGGCA 0.642000 36 27 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086562 39086562 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:39086562C>T uc011aej.1 - 2 951 c.898G>A c.(898-900)Gag>Aag p.E300K KCNJ6_uc002ywo.2_Missense_Mutation_p.E300K NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 300 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCCAGTTCCTCTTTGGGCAGC 0.483000 56 43 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126142424 126142424 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:126142424G>A uc010hsg.1 + 11 1285 c.1226G>A c.(1225-1227)aGc>aAc p.S409N CCDC37_uc003eiu.1_Missense_Mutation_p.S408N NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 408 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) ATCCAGAACAGCCAGGAGACG 0.612000 52 11 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026779 61026779 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:61026779G>A uc001nra.3 - 19 2515 c.2236C>T c.(2236-2238)Ctg>Ttg p.L746L VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 746 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGAGGAGACAGGGAATCTAGA 0.562000 42 9 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69040489 69040489 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:69040489C>T uc010fdg.3 + 5 1164 c.745C>T c.(745-747)Ccc>Tcc p.P249S ARHGAP25_uc010yqk.2_Missense_Mutation_p.P223S|ARHGAP25_uc010yql.2_Missense_Mutation_p.P209S|ARHGAP25_uc002sev.3_Missense_Mutation_p.P242S|ARHGAP25_uc002sew.3_Missense_Mutation_p.P241S|ARHGAP25_uc002sex.3_Missense_Mutation_p.P242S|ARHGAP25_uc010fdh.1_Non-coding_Transcript NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 248 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GCCCGTGGTTCCCTGGAGCCA 0.517000 46 29 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52899811 52899811 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:52899811C>T uc002lga.3 - 17 1944 c.1884G>A c.(1882-1884)acG>acA p.T628T TCF4_uc021ukg.1_Silent_p.T366T|TCF4_uc021ukh.1_Silent_p.T366T|TCF4_uc002lfw.4_Silent_p.T366T|TCF4_uc010xdu.1_Silent_p.T396T|TCF4_uc010xdv.1_Silent_p.T396T|TCF4_uc021uki.1_Silent_p.T455T|TCF4_uc002lfx.2_Silent_p.T455T|TCF4_uc010xdw.1_Silent_p.T396T|TCF4_uc002lfy.2_Silent_p.T484T|TCF4_uc010xdx.1_Silent_p.T502T|TCF4_uc021ukj.1_Silent_p.T466T|TCF4_uc021ukk.1_Silent_p.T466T|TCF4_uc021ukl.1_Silent_p.T523T|TCF4_uc002lfz.2_Silent_p.T526T|TCF4_uc010dph.1_Silent_p.T526T|TCF4_uc010dpi.3_Silent_p.T532T|TCF4_uc010xdy.1_Silent_p.T502T NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 526 Class A specific domain. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CCGAAGATTTCGTGTCTTGCA 0.453000 46 4 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138178089 138178089 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:138178089G>A uc003esk.3 + 4 868 c.642G>A c.(640-642)ggG>ggA p.G214G ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 214 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GTGTGAACGGGATCCAGGTGG 0.622000 28 72 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606504 21606504 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:21606504C>T uc002npw.3 + 3 1162 c.1043C>T c.(1042-1044)tCc>tTc p.S348F ZNF493_uc002npx.3_Missense_Mutation_p.S220F|ZNF493_uc002npy.3_Missense_Mutation_p.S220F|ZNF493_uc021urq.1_Missense_Mutation_p.S220F NM_001076678 NP_787106 Q6ZR52 ZN493_HUMAN Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA. 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GAAGAGAAATCCCACAGATGT 0.353000 29 18 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168586 50168586 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:50168586G>A uc001zxu.3 - 24 3058 c.2916C>T c.(2914-2916)atC>atT p.I972I ATP8B4_uc010ber.3_Silent_p.I845I|ATP8B4_uc010ufd.2_Silent_p.I782I|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 972 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) CCCCATAGGGGATGAAGAAAA 0.443000 38 37 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959685 45959685 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:45959685C>T uc002zfh.1 - 0 394 c.349G>A c.(349-351)Gat>Aat p.D117N TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA. 117 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GAAGAGGAATCCTTAGAgcag 0.627000 61 47 0 0 1 0 0 XKRX 402415 broad.mit.edu 37 X 100169470 100169471 + Nonsense_Mutation DNP GG AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:100169470_100169471GG>AA uc004egn.2 - 2 1811_1812 c.1206_1207CC>TT c.(1204-1209)ttccag>ttTTag p.Q403* XKRX_uc011mre.1_Nonsense_Mutation_p.Q199* NM_212559 NP_997724 Q6PP77 XKR2_HUMAN Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA. 403 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 TGCAAGTACTGGAAGAAAAGGA 0.450000 4 50 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103179671 103179671 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:103179671G>A uc022ajr.1 - 44 7194 c.7034C>T c.(7033-7035)cCc>cTc p.P2345L RELN_uc022ajq.1_Missense_Mutation_p.P2345L|RELN_uc010liz.3_Missense_Mutation_p.P2345L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2345 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) GCCACACACGGGCATCTTGGT 0.493000 29 28 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890774 22890774 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:22890774C>T uc002zwf.3 - 4 1401 c.1245G>A c.(1243-1245)ggG>ggA p.G415G abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.G399G|PRAME_uc010gtr.3_Silent_p.G415G|PRAME_uc002zwg.3_Silent_p.G415G|PRAME_uc002zwh.3_Silent_p.G415G|PRAME_uc002zwi.3_Silent_p.G415G|PRAME_uc002zwj.3_Silent_p.G415G|PRAME_uc002zwk.3_Silent_p.G415G NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 415 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AGATGGAATTCCCGTAGAAGC 0.547000 43 15 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169535244 169535244 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:169535244T>A uc003mai.4 + 1 811 c.766T>A c.(766-768)Tca>Aca p.S256T FOXI1_uc003maj.4_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 256 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGATGGAGCCTCACCAGGGGG 0.607000 Pendred syndrome 71 52 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53170596 53170596 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:53170596T>C uc001sax.3 - 0 534 c.480A>G c.(478-480)gtA>gtG p.V160V NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 160 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GACTCTGGTTTACAATCACTT 0.562000 17 19 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 301808 301808 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:301808A>T uc001qhz.3 - 15 2201 c.1537T>A c.(1537-1539)Ttc>Atc p.F513I SLC6A12_uc001qhy.3_Missense_Mutation_p.F69I|SLC6A12_uc001qia.3_Missense_Mutation_p.F513I|SLC6A12_uc001qib.3_Missense_Mutation_p.F513I|SLC6A12_uc009zdh.2_Missense_Mutation_p.F513I NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 513 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.T512T(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GAGAAGAGGAAAGTGGCCTGG 0.567000 24 16 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593689 11593689 + Missense_Mutation SNP G A A rs139715944 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:11593689G>A uc002gne.3 + 19 4618 c.4550G>A c.(4549-4551)cGa>cAa p.R1517Q DNAH9_uc010coo.3_Missense_Mutation_p.R811Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1517 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1517*(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAAGTGCAGCGAACATGGACT 0.483000 5 46 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54161361 54161361 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:54161361G>A uc004dsz.4 - 6 1602 c.1519C>T c.(1519-1521)Ccc>Tcc p.P507S FAM120C_uc011moh.2_Missense_Mutation_p.P507S NM_017848 NP_060318 Q9NX05 F120C_HUMAN Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA. 507 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGGTAATTGGGAAACTGGGAT 0.512000 1 15 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121957440 121957440 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:121957440C>T uc003idq.1 - 3 2213 c.1686G>A c.(1684-1686)gtG>gtA p.V562V NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 562 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTCTAGTTTTCACAACCTTAC 0.378000 53 59 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20557780 20557780 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:20557780A>T uc002dhj.4 - 9 1325 c.1115T>A c.(1114-1116)gTt>gAt p.V372D ACSM2B_uc002dhk.4_Missense_Mutation_p.V372D|ACSM2B_uc010bwf.1_Missense_Mutation_p.V372D NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 372 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGTCTTGGAAACCATGCAAGT 0.468000 76 31 0 0 1 0 0 CPLX4 339302 broad.mit.edu 37 18 56963995 56963995 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:56963995C>T uc002lhy.3 - 2 605 c.418G>A c.(418-420)Gaa>Aaa p.E140K NM_181654 NP_857637 Q7Z7G2 CPLX4_HUMAN Homo sapiens complexin 4 (CPLX4), mRNA. 140 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) TGGGCTTTTTCTTTTATGGTA 0.483000 40 5 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91420205 91420205 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:91420205T>A uc002bpu.1 + 4 668 c.452T>A c.(451-453)aTt>aAt p.I151N NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 151 Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTGGTCTCCATTCTGGACGAT 0.602000 67 104 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580552 580552 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:580552C>T uc002kko.1 + 0 184 c.144C>T c.(142-144)atC>atT p.I48I NM_004066 NP_004057 Q12798 CETN1_HUMAN Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA. 48 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.I48I(2) breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GTGGGACCATCGACGCGAAGG 0.552000 14 27 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20970595 20970595 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:20970595A>G uc010vbe.2 - 53 10732 c.10732T>C c.(10732-10734)Tta>Cta p.L3578L DNAH3_uc010vbd.2_Silent_p.L1013L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3578 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAGTTCTGTAAGACCACCCAG 0.537000 79 63 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42119601 42119601 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:42119601C>T uc003gwn.3 - 5 2119 c.1539G>A c.(1537-1539)ggG>ggA p.G513G BEND4_uc003gwm.3_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 513 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GGTGATCGATCCCTTCATAAA 0.522000 16 7 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356158 201356158 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:201356158C>T uc001gwm.3 - 2 566 c.331G>A c.(331-333)Gag>Aag p.E111K LAD1_uc009wzu.1_Missense_Mutation_p.E133K NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 111 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCCAGCCTCTCCTGGATGGGG 0.622000 3 42 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161128794 161128794 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:161128794C>T uc003qtm.4 + 2 360 c.248C>T c.(247-249)tCc>tTc p.S83F PLG_uc021zhr.1_Missense_Mutation_p.S83F NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 83 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGGAAGTCCTCCATAATCATT 0.408000 89 44 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564326 64564326 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:64564326G>A uc001obh.3 - 20 1539 c.1447C>T c.(1447-1449)Ctg>Ttg p.L483L MAP4K2_uc001obi.3_Silent_p.L475L NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 483 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting Golgi membrane|basolateral plasma membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 TGGATCCGCAGGGGGCAGCCA 0.657000 44 11 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233802505 233802505 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:233802505T>C uc010pxo.1 + 1 688 c.520T>C c.(520-522)Ttc>Ctc p.F174L NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 174 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) CCGCTGGGGCTTCTCCAAGCA 0.612000 9 83 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257627 158257627 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:158257627G>A uc003ipm.4 + 10 2031 c.1572G>A c.(1570-1572)atG>atA p.M524I GRIA2_uc011cit.2_Missense_Mutation_p.M477I|GRIA2_uc003ipl.4_Missense_Mutation_p.M524I|GRIA2_uc003ipk.4_Missense_Mutation_p.M477I|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 524 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.I523I(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATCTATCATGATCAAGAAGC 0.423000 63 137 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31664743 31664743 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:31664743G>T uc003nvy.2 - 4 490 c.411C>A c.(409-411)aaC>aaA p.N137K ABHD16A_uc003nvx.2_5'UTR|ABHD16A_uc011dny.2_Missense_Mutation_p.N104K|ABHD16A_uc010jtc.2_5'UTR|ABHD16A_uc011dnz.2_5'UTR|ABHD16A_uc011doa.2_Missense_Mutation_p.T39N NM_021160 NP_066983 O95870 ABHGA_HUMAN Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA. 137 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CTGAAGACTGGTTCCGATGTG 0.527000 45 38 1.07637e-12 1.08104e-12 1 1 0 NFATC4 4776 broad.mit.edu 37 14 24842975 24842975 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:24842975G>A uc001wpc.3 + 4 1955 c.1634G>A c.(1633-1635)cGc>cAc p.R545H NFATC4_uc010alr.3_Missense_Mutation_p.R608H|NFATC4_uc010tok.2_Missense_Mutation_p.R608H|NFATC4_uc010tol.2_Missense_Mutation_p.R608H|NFATC4_uc010als.2_Missense_Mutation_p.R558H|NFATC4_uc010too.2_Missense_Mutation_p.R558H|NFATC4_uc010tom.2_Missense_Mutation_p.R558H|NFATC4_uc010ton.2_Missense_Mutation_p.R558H|NFATC4_uc010toq.2_Missense_Mutation_p.R577H|NFATC4_uc010alt.3_Missense_Mutation_p.R577H|NFATC4_uc010top.2_Missense_Mutation_p.R577H|NFATC4_uc010alu.3_Missense_Mutation_p.R237H|NFATC4_uc010tor.2_Missense_Mutation_p.R545H|NFATC4_uc010tos.2_Missense_Mutation_p.R475H|NFATC4_uc010tot.2_Missense_Mutation_p.R533H|NFATC4_uc010tou.2_Missense_Mutation_p.R475H|NFATC4_uc010tov.2_Missense_Mutation_p.R533H|NFATC4_uc010tow.2_Missense_Mutation_p.R475H|NFATC4_uc010alv.3_Missense_Mutation_p.R533H|NFATC4_uc010tox.2_Missense_Mutation_p.R475H|NFATC4_uc001wpd.3_Missense_Mutation_p.R80H|NFATC4_uc010toy.2_Missense_Mutation_p.R80H|NFATC4_uc010toz.2_Missense_Mutation_p.R80H|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 545 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R545H(2)|p.R608H(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GACATCGGGCGCAAAAACACA 0.592000 51 3 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107431884 107431884 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:107431884C>T uc004enw.4 - 20 1556 c.1453G>A c.(1453-1455)Gac>Aac p.D485N COL4A6_uc004env.4_Missense_Mutation_p.D484N|COL4A6_uc011msn.2_Missense_Mutation_p.D484N|COL4A6_uc010npk.3_Missense_Mutation_p.D484N NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 485 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.D484E(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ACACCACCGTCACAAGCACAG 0.498000 Alport syndrome with Diffuse Leiomyomatosis 4 20 0 0 1 0 0 RBPJ 3516 broad.mit.edu 37 4 26430439 26430439 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:26430439G>A uc003grx.2 + 8 1120 c.884G>A c.(883-885)aGa>aAa p.R295K RBPJ_uc003gry.2_Missense_Mutation_p.R280K|RBPJ_uc003grz.2_Missense_Mutation_p.R295K|RBPJ_uc011bxt.2_Missense_Mutation_p.R295K|RBPJ_uc003gsa.2_Missense_Mutation_p.R281K|RBPJ_uc003gsb.2_Missense_Mutation_p.R282K NM_005349 NP_005340 Q06330 SUH_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA. 295 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GATACAGAAAGAATGTATTTG 0.333000 31 4 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2129146 2129146 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:2129146G>A uc002lva.3 - 7 972 c.749C>T c.(748-750)cCt>cTt p.P250L AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.P250L NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 250 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGTTCCAAAGGAGTAAGAGC 0.687000 3 5 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69561299 69561299 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:69561299G>A uc002ary.1 + 4 1798 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 524 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TGACTTAAAAGAAACTGCAGG 0.403000 68 33 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179736897 179736897 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179736897T>A uc002une.2 - 12 2160 c.2042A>T c.(2041-2043)aAa>aTa p.K681I CCDC141_uc002unf.1_Missense_Mutation_p.K160I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 106 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCACTGCTGTTTTCCAGGCTT 0.483000 14 13 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138587 126138587 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:126138587G>A uc001uhe.1 + 8 2576 c.2568G>A c.(2566-2568)ggG>ggA p.G856G TMEM132B_uc001uhf.1_Silent_p.G368G NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 856 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCATGGAAGGGAAGAATAAGT 0.517000 12 18 0 0 1 0 0 RAB11B 9230 broad.mit.edu 37 19 8468310 8468310 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:8468310C>T uc002mju.4 + 4 621 c.525C>T c.(523-525)atC>atT p.I175I RAB11B_uc021uof.1_Non-coding_Transcript NM_004218 NP_004209 Q15907 RB11B_HUMAN Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA. 175 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 TCTACCGCATCGTGTCACAGA 0.662000 50 35 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354699 45354699 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:45354699C>T uc002xsl.3 + 1 1121 c.1024C>T c.(1024-1026)Cct>Tct p.P342S NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 342 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GACAGGCCTCCCTGGAGACTC 0.592000 55 40 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3141767 3141767 + Missense_Mutation SNP G C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:3141767G>C uc022aqr.1 - 25 4442 c.4052C>G c.(4051-4053)tCc>tGc p.S1351C CSMD1_uc011kwj.2_Missense_Mutation_p.S744C|CSMD1_uc003wqe.3_Missense_Mutation_p.S508C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1352 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGGAAGGGCGGAGCCACTCCA 0.562000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 15 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98469612 98469612 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:98469612C>T uc001kmq.3 - 1 270 c.142G>A c.(142-144)Ggc>Agc p.G48S NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 48 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GCCTCGGGGCCCAGCCTGTGA 0.627000 6 25 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274658 51274658 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:51274658C>T uc010ycf.2 + 0 801 c.801C>T c.(799-801)atC>atT p.I267I NM_001506 NP_001497 O75388 GPR32_HUMAN Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA. 267 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTTTCTTTATCTTCTGGTCCC 0.612000 45 37 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95941847 95941847 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:95941847T>C uc002suk.3 + 2 597 c.464T>C c.(463-465)aTg>aCg p.M155T PROM2_uc002suh.2_Missense_Mutation_p.M155T|PROM2_uc002sui.3_Missense_Mutation_p.M155T|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 155 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCGGCCCTCATGGTCTTCCTG 0.692000 26 21 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672166 45672166 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:45672166C>T uc021qgn.1 - 0 308 c.308G>A c.(307-309)cGc>cAc p.R103H CHST1_uc001mys.2_Missense_Mutation_p.R103H NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 103 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CTGGGTGAAGCGGGGGATGAG 0.652000 62 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179426452 179426452 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179426452C>T uc021vsy.1 - 274 76928 c.76703G>A c.(76702-76704)gGa>gAa p.G25568E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19263E|TTN_uc021vta.1_Missense_Mutation_p.G19196E|TTN_uc021vtb.1_Missense_Mutation_p.G19071E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26495 Fibronectin type-III 86. 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) GGAGCTCTTTCCATAGCGGTT 0.448000 14 16 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114273623 114273623 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:114273623C>T uc001pow.3 + 2 343 c.333C>T c.(331-333)tcC>tcT p.S111S C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Silent_p.S111S|RBM7_uc001pox.3_5'UTR NM_016090 NP_057174 Q9Y580 RBM7_HUMAN Homo sapiens RNA binding motif protein 7 (RBM7), mRNA. 111 meiosis RNA binding|nucleotide binding|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GCCCTACCTCCACATCTCCTA 0.353000 71 12 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607532 31607532 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:31607532C>T uc002wyj.3 + 10 1250 c.1056C>T c.(1054-1056)ttC>ttT p.F352F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 352 extracellular region lipid binding ACTCGGCTTTCCAGTCCCTCT 0.637000 27 18 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80203405 80203405 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:80203405C>T uc003piy.3 - 4 1395 c.783G>A c.(781-783)agG>agA p.R261R LCA5_uc003pix.3_Silent_p.R261R NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 261 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) ATGCCCTTTTCCTTTCAGCAA 0.328000 18 5 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944378 101944378 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:101944378C>T uc001vox.1 - 8 1199 c.1010G>A c.(1009-1011)gGa>gAa p.G337E NALCN_uc001voy.3_Missense_Mutation_p.G52E|NALCN_uc001voz.2_Missense_Mutation_p.G337E|NALCN_uc001vpa.2_Missense_Mutation_p.G337E NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 337 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTTCTCGATCCCCACATTTG 0.423000 47 12 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69758194 69758194 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:69758194C>T uc010kak.3 + 12 2501 c.2225C>T c.(2224-2226)cCa>cTa p.P742L BAI3_uc003pev.4_Missense_Mutation_p.P742L NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 742 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTAGTAATTCCAAAAAGCATT 0.373000 11 21 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3760055 3760055 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:3760055C>T uc002lyp.1 - 1 385 c.208G>A c.(208-210)Gat>Aat p.D70N MRPL54_uc002lyq.4_5'Flank NM_004886 NP_004877 O96018 APBA3_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA. 70 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCCACCAGATCGCCTGGCAGA 0.637000 29 26 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027925 92027925 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:92027925C>T uc003ulw.2 + 19 3308 c.2932C>T c.(2932-2934)Cat>Tat p.H978Y ANKIB1_uc010lew.1_Missense_Mutation_p.H247Y NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA. 978 protein binding|zinc ion binding p.H978N(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGCTTGGTTTCATGACATGAA 0.488000 78 98 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080059 152080059 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152080059C>T uc009wne.1 - 2 5906 c.5634G>A c.(5632-5634)agG>agA p.R1878R TCHH_uc001ezp.2_Silent_p.R1878R NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 1878 23 X 26 AA approximate tandem repeats. 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) CCCGTAATTTCCTTTCCCGTT 0.577000 10 144 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156815192 156815192 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:156815192C>T uc010pht.2 - 10 2487 c.2188G>A c.(2188-2190)Gtg>Atg p.V730M NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 730 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) ATGGACGTCACCTTCCAAGGG 0.647000 3 53 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176332394 176332394 + Silent SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:176332394A>C uc021yil.1 - 14 2216 c.2049T>G c.(2047-2049)gtT>gtG p.V683V UIMC1_uc021yim.1_Silent_p.V683V|UIMC1_uc021yin.1_Silent_p.V683V|UIMC1_uc003mfd.2_Silent_p.V313V NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA. 683 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) CTGAAATGGAAACAAAAGACT 0.493000 67 41 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566790 4566790 + Missense_Mutation SNP C T T rs61751908 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:4566790C>T uc010qyf.2 + 0 370 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTTTTGATCGCTACGTGGC 0.527000 53 15 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125748 58125748 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:58125748G>A uc010rke.2 - 0 795 c.795C>T c.(793-795)tcC>tcT p.S265S NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGTGTCCATGGAATGACTGG 0.403000 30 35 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4310507 4310507 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:4310507A>G uc002lzy.2 + 5 557 c.404A>G c.(403-405)aAa>aGa p.K135R FSD1_uc010xie.2_Missense_Mutation_p.K122R|FSD1_uc010xif.2_Silent_p.E118E|FSD1_uc002maa.2_5'Flank NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA. 135 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus p.L134F(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CTATCATTGAAAGCGAAGGTC 0.622000 72 38 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390604 48390604 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:48390604C>T uc001jez.3 - 0 388 c.274G>A c.(274-276)Gag>Aag p.E92K NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 92 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTGCTGGGCTCATAGGAGATG 0.627000 11 49 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63727047 63727047 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:63727047C>T uc003tsx.3 + 4 1305 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TAAGATAATTCATACTGGAGA 0.398000 22 8 0 0 1 0 0 ELAC1 55520 broad.mit.edu 37 18 48500853 48500853 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:48500853C>T uc002lez.3 + 1 185 c.79C>T c.(79-81)Cgg>Tgg p.R27W ELAC1_uc010dpe.3_Missense_Mutation_p.R27W|SMAD4_uc010xdo.1_Non-coding_Transcript NM_018696 NP_061166 Q9H777 RNZ1_HUMAN Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA. 27 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TGTGGTCCTTCGGTGTGAAGG 0.532000 66 11 0 0 1 0 0 ANKRD49 54851 broad.mit.edu 37 11 94231318 94231318 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:94231318C>T uc001pew.3 + 2 479 c.340C>T c.(340-342)Cga>Tga p.R114* ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA. 114 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCCTCTTCATCGAGCAGCCTA 0.502000 15 47 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97263174 97263174 + Missense_Mutation SNP G A A rs148129681 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:97263174G>A uc003yhs.1 - 3 715 c.637C>T c.(637-639)Cat>Tat p.H213Y MTERFD1_uc003yhr.1_Missense_Mutation_p.H92Y|MTERFD1_uc010mbd.1_Missense_Mutation_p.H213Y NM_015942 NP_057026 Q96E29 MTER1_HUMAN Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA. 213 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding p.H213Y(2) endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) AAAATTGCATGATTTTTTGTC 0.348000 136 24 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44193026 44193026 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:44193026C>T uc003tkl.2 - 1 552 c.82G>A c.(82-84)Gag>Aag p.E28K GCK_uc003tkj.1_Missense_Mutation_p.E27K|GCK_uc003tkk.1_Missense_Mutation_p.E29K NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 28 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TTCAGGTCCTCCTCCTGCAGC 0.627000 141 179 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282066 152282066 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152282066G>A uc001ezu.1 - 2 5332 c.5296C>T c.(5296-5298)Ctc>Ttc p.L1766F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1766 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.F1765F(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTGGTAGAGGAAAGACCCT 0.612000 Ichthyosis 29 409 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9719703 9719703 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:9719703C>T uc003brz.3 + 8 1009 c.858C>T c.(856-858)ttC>ttT p.F286F MTMR14_uc003bsa.3_Silent_p.F286F|MTMR14_uc003bsb.3_Silent_p.F286F|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA. 286 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCCCCGACTTCCTGACTCACT 0.547000 26 53 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623858 21623858 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:21623858G>A uc010tlp.2 - 0 327 c.327C>T c.(325-327)ccC>ccT p.P109P NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GGGAGTACATGGGTGTGTGCA 0.562000 25 8 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:108568024G>A uc003dxi.1 + 4 370 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_uc010hpx.1_Missense_Mutation_p.E39K NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 76 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 35 7 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157178021 157178022 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:157178021_157178022CC>TT uc003fbj.2 - 3 896_897 c.477_478GG>AA c.(475-480)aaggca>aaAAca p.A160T VEPH1_uc003fbk.2_Missense_Mutation_p.A160T|VEPH1_uc010hvu.2_Missense_Mutation_p.A160T|VEPH1_uc021xgk.1_Missense_Mutation_p.A160T|VEPH1_uc003fbn.3_Missense_Mutation_p.A160T|VEPH1_uc003fbm.3_Missense_Mutation_p.A160T NM_024621 NP_078897 Q14D04 MELT_HUMAN Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA. 160 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGGAGATCTGCCTTGGTAATTG 0.455000 48 71 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47480712 47480712 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:47480712C>T uc002leb.2 - 12 1927 c.1639G>A c.(1639-1641)Gcc>Acc p.A547T MYO5B_uc021ukb.1_Missense_Mutation_p.A546T NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 547 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ATGATGAAGGCCGTGTTGGAC 0.567000 27 41 0 0 1 0 0 POLI 11201 broad.mit.edu 37 18 51818283 51818283 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:51818283C>T uc002lfj.4 + 8 1347 c.1279C>T c.(1279-1281)Cac>Tac p.H427Y POLI_uc010xds.2_Missense_Mutation_p.H348Y|POLI_uc002lfk.4_Missense_Mutation_p.H324Y|POLI_uc010dpg.3_Missense_Mutation_p.H23Y NM_007195 NP_009126 Q9UNA4 POLI_HUMAN Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. 427 DNA repair|DNA replication nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GATGCCATTTCACCTTACCCT 0.323000 DNA polymerases (catalytic subunits) 24 31 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16975689 16975689 + RNA SNP G C C rs138200686 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:16975689G>C uc010och.2 + 9 c.1838G>C MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. CATTTCTGCGGGGGGTCTCTA 0.582000 26 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256596 140256596 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140256596G>A uc003lic.2 + 0 1666 c.1539G>A c.(1537-1539)gaG>gaA p.E513E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.E513E NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 527 Cadherin 5. 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) TGCACGCGGAGAGCGGCAAGG 0.706000 47 255 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220423149 220423149 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:220423149G>A uc010fwk.3 - 9 3573 c.3259C>T c.(3259-3261)Cgc>Tgc p.R1087C OBSL1_uc002vmh.1_Missense_Mutation_p.R78C|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.R1087C NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 1087 Ig-like 9. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TCCAGGGAGCGGGCTGCCGGG 0.677000 5 6 0 0 1 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796515 42796515 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:42796515C>T uc003osn.1 + 5 595 c.444C>T c.(442-444)tcC>tcT p.S148S KIAA0240_uc003osm.1_Silent_p.S148S|KIAA0240_uc011duw.1_Silent_p.S148S|KIAA0240_uc003oso.1_Silent_p.S148S|KIAA0240_uc003osp.1_Silent_p.S148S NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 148 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) CATCAGCATCCTTTACTCAGG 0.463000 84 68 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189785 124189785 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:124189785G>A uc010sah.2 - 0 309 c.309C>T c.(307-309)ttC>ttT p.F103F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 103 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) AAATAAGGAAGAAATAAAGTT 0.403000 39 10 0 0 1 0 0 F3 2152 broad.mit.edu 37 1 94996126 94996126 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:94996126C>T uc001dqr.3 - 5 999 c.778G>A c.(778-780)Gta>Ata p.V260I F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Nonsense_Mutation_p.W206* NM_001993 NP_001984 P13726 TF_HUMAN Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA. 260 V -> A (in Ref. 1; AAA61151). activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) ACCACAAATACCACAGCTCCA 0.433000 3 74 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87018239 87018239 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:87018239G>A uc003dqn.3 - 2 802 c.438C>T c.(436-438)ttC>ttT p.F146F NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGGAAGTTGGGAAACTATTCC 0.478000 74 19 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43606952 43606952 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:43606952A>T uc003bdt.2 - 17 2486 c.2359T>A c.(2359-2361)Tcc>Acc p.S787T NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 787 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) ACGTTGGTGGAGCCATCGAAG 0.652000 34 34 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18716344 18716344 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:18716344G>A uc001rdt.3 + 26 3807 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1231 PX. 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) CAGCAACAACGAAACAAGCCT 0.418000 13 5 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5848488 5848488 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:5848488C>T uc001qnm.2 - 12 1489 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 478 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.E473G(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CTCACTTCTTCCTCTTCTATG 0.433000 5 6 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600878 141600878 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:141600878G>A uc010ioj.3 - 3 752 c.480C>T c.(478-480)ctC>ctT p.L160L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 160 GRAM 1. intracellular Rab GTPase activator activity|calcium ion binding p.L160L(3) endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AATAGTTGACGAGTTTCTCTT 0.418000 13 25 0 0 1 0 0 TAX1BP3 30851 broad.mit.edu 37 17 3567173 3567173 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:3567173C>T uc002fwc.3 - 3 397 c.244G>A c.(244-246)Ggc>Agc p.G82S TAX1BP3_uc021tnt.1_Missense_Mutation_p.G56S|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR NM_014604 NP_055419 O14907 TX1B3_HUMAN Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA. 82 PDZ. Rho protein signal transduction|Wnt receptor signaling pathway|activation of Cdc42 GTPase activity|negative regulation of Wnt receptor signaling pathway|negative regulation of protein localization at cell surface cytoplasm|nucleus protein C-terminus binding endometrium(1) 1 COAD - Colon adenocarcinoma(5;0.0761) ATGTCCCAGCCGTTCACCTGG 0.652000 2 16 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017539 101017539 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:101017539C>T uc001thu.3 + 9 1182 c.956C>T c.(955-957)cCt>cTt p.P319L GAS2L3_uc009zty.3_Missense_Mutation_p.P319L|GAS2L3_uc001thv.3_Missense_Mutation_p.P215L NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA. 319 cell cycle arrest p.P319L(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 GAAATGAATCCTTTGTCAGCA 0.403000 34 15 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577721 9577721 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9577721C>T uc002mlp.1 - 9 2112 c.1902G>A c.(1900-1902)ggG>ggA p.G634G ZNF560_uc010dwr.1_Silent_p.G528G NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G634G(2) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CAAAGGCTTTCCCACAGTCCT 0.378000 47 51 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210570368 210570368 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:210570368C>T uc002vde.1 + 10 4897 c.4649C>T c.(4648-4650)cCt>cTt p.P1550L MAP2_uc002vdd.1_Missense_Mutation_p.P251L|MAP2_uc002vdf.1_Missense_Mutation_p.P194L|MAP2_uc002vdg.1_Missense_Mutation_p.P194L|MAP2_uc002vdh.1_Missense_Mutation_p.P251L|MAP2_uc002vdi.1_Missense_Mutation_p.P1546L NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1550 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATTCTCCCTCCTCGGCGAGGT 0.478000 51 36 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289185 46289185 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:46289185G>A uc002pdj.1 - 2 1615 c.1569C>T c.(1567-1569)ttC>ttT p.F523F DMWD_uc021uwc.1_Missense_Mutation_p.S177L|DMWD_uc010eko.1_Silent_p.F208F NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 523 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGAGCGTGGCGAAGCGGCCAA 0.706000 31 23 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333016 70333016 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:70333016C>T uc001oqc.3 - 20 3296 c.3184G>A c.(3184-3186)Gag>Aag p.E1062K SHANK2_uc010rqn.2_Missense_Mutation_p.E538K|SHANK2_uc001opz.3_Missense_Mutation_p.E533K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 749 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCCCCCTCCTCGGGGAACATG 0.677000 45 10 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63099229 63099229 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:63099229T>C uc001daq.3 - 9 1090 c.1056A>G c.(1054-1056)caA>caG p.Q352Q DOCK7_uc001dan.3_Silent_p.Q244Q|DOCK7_uc001dao.3_Silent_p.Q244Q|DOCK7_uc001dap.3_Silent_p.Q352Q|DOCK7_uc009wah.1_Silent_p.Q352Q NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 352 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CAATGTCTCCTTGCTGTAGGA 0.353000 11 210 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 109002825 109002825 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:109002825A>C uc002tea.1 + 5 1166 c.793A>C c.(793-795)Aaa>Caa p.K265Q SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.K190Q NM_006588 NP_006579 O75897 ST1C4_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA. 265 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ATTCATGAGAAAAGGTTTTTA 0.313000 21 9 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55984565 55984565 + Missense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:55984565T>G uc021wzo.1 - 11 2431 c.2291A>C c.(2290-2292)aAg>aCg p.K764T ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.K760T|ERC2_uc003dht.1_Missense_Mutation_p.K243T NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 764 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTTGGCCACCTTCTTATTCTG 0.408000 22 30 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107871528 107871528 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:107871528G>A uc022aka.1 - 4 603 c.497C>T c.(496-498)cCc>cTc p.P166L NRCAM_uc011kmk.2_Missense_Mutation_p.P166L|NRCAM_uc003vfd.3_Missense_Mutation_p.P166L|NRCAM_uc003vfe.3_Missense_Mutation_p.P166L|NRCAM_uc003vfc.3_Missense_Mutation_p.P160L NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA. 166 Ig-like 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GGGTCTGCAGGGAAGTACTAA 0.323000 27 19 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051895 132051895 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:132051895G>A uc003ytd.4 - 0 941 c.685C>T c.(685-687)Ctg>Ttg p.L229L ADCY8_uc010mds.3_Silent_p.L229L NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 229 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 p.A228V(1) 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) ACCACCACCAGGGCGCAGATC 0.632000 HNSCC(32;0.087) 23 50 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42854278 42854278 + Nonsense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:42854278C>G uc002ihh.3 + 19 1629 c.1629C>G c.(1627-1629)taC>taG p.Y543* ADAM11_uc010wjd.2_Nonsense_Mutation_p.Y343*|ADAM11_uc002ihi.3_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA. 543 Cys-rich. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GCCGCTGCTACGGAGGTCGCT 0.612000 28 111 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151114356 151114356 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:151114356C>T uc003ilo.4 + 2 1577 c.823C>T c.(823-825)Cgt>Tgt p.R275C DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R275C|DCLK2_uc003iln.4_Missense_Mutation_p.R275C NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 275 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) AGAAAAATTTCGTTATGCCCA 0.368000 63 76 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94953763 94953763 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:94953763G>A uc003uns.3 - 0 122 c.25C>T c.(25-27)Ctc>Ttc p.L9F PON1_uc011kih.2_Intron NM_000446 NP_000437 P27169 PON1_HUMAN Homo sapiens paraoxonase 1 (PON1), mRNA. 9 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) ATCCCCAAGAGGGTGAGCGCA 0.612000 10 23 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7475048 7475049 + Missense_Mutation DNP GG AT AT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:7475048_7475049GG>AT uc001qsx.1 + 6 1036_1037 c.1036_1037GG>AT c.(1036-1038)gga>ATa p.G346I NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 346 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.T345T(1) endometrium(6)|kidney(1)|lung(14) 21 CTGCTTGACCGGAGGGGAGCCA 0.500000 11 13 0 0 1 0 0 LOC100509575 100509575 broad.mit.edu 37 X 47972658 47972658 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:47972658A>G uc011mlv.2 + 4 435 c.363A>G c.(361-363)gaA>gaG p.E121E LOC100509575_uc022bvt.1_Intron NM_001205103 NP_001192032 B7Z813 B7Z813_HUMAN Homo sapiens putative protein SSX6-like (LOC100509575), mRNA. 121 regulation of transcription, DNA-dependent intracellular nucleic acid binding GGACCAGAGAACCTTTGTCCC 0.458000 2 38 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36322248 36322248 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:36322248C>T uc002oby.3 - 25 3493 c.3337G>A c.(3337-3339)Gaa>Aaa p.E1113K NPHS1_uc010eem.1_Non-coding_Transcript NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1113 cell adhesion|excretion|muscle organ development integral to plasma membrane p.E1113K(2) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCATATTCGTTCCTGACT 0.632000 53 39 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24870477 24870477 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:24870477G>A uc003sxf.3 - 15 2199 c.1794C>T c.(1792-1794)taC>taT p.Y598Y OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.Y562Y|OSBPL3_uc003sxh.3_Silent_p.Y567Y|OSBPL3_uc003sxi.3_Silent_p.Y531Y NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA. 598 lipid transport lipid binding|protein binding p.Y598Y(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TTCCAGCTCGGTAGTAGCTAG 0.428000 118 73 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101320943 101320943 + Missense_Mutation SNP G C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:101320943G>C uc001vot.3 - 2 422 c.109C>G c.(109-111)Cct>Gct p.P37A TMTC4_uc001vou.3_Missense_Mutation_p.P18A|TMTC4_uc010tja.2_Missense_Mutation_p.P18A NM_032813 NP_001073137 Q5T4D3 TMTC4_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA. 18 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) CAGAATGGAGGAAGAACAGAA 0.468000 112 28 0 0 1 0 0 TRAV38-2DV8 28643 broad.mit.edu 37 14 22749563 22749563 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:22749563C>T uc010tmr.2 + 1 327 c.281C>T c.(280-282)tCc>tTc p.S94F 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 SubName: Full=HADV38S2; Flags: Fragment; GCAGCCAAATCCTTCAGTCTC 0.483000 32 12 0 0 1 0 0 LXN 56925 broad.mit.edu 37 3 158387396 158387396 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:158387396C>T uc003fch.3 - 2 411 c.196G>A c.(196-198)Gtt>Att p.V66I GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Missense_Mutation_p.V66I NM_020169 NP_064554 Q9BS40 LXN_HUMAN Homo sapiens latexin (LXN), mRNA. 66 cytoplasm metalloendopeptidase inhibitor activity|protein binding breast(2)|endometrium(1)|kidney(2) 5 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTCACCTTAACTTGCTGTTTG 0.358000 8 23 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111638045 111638045 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:111638045G>A uc010hqa.3 + 3 2257 c.1846G>A c.(1846-1848)Gat>Aat p.D616N PHLDB2_uc003dyc.3_Missense_Mutation_p.D643N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyi.3_Missense_Mutation_p.D202N NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 616 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGATCAGATGGATGAGTCTTT 0.383000 31 41 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74971538 74971538 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:74971538C>T uc001xqa.3 - 29 4783 c.4396G>A c.(4396-4398)Gga>Aga p.G1466R NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1466 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) TAGCCTTTTCCACTAGGGCAG 0.542000 16 12 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88415648 88415648 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:88415648C>T uc010ikm.3 - 4 876 c.304G>A c.(304-306)Gac>Aac p.D102N SPARCL1_uc011cdc.2_5'UTR|SPARCL1_uc003hqs.4_Missense_Mutation_p.D102N|SPARCL1_uc011cdd.2_5'UTR NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 102 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding p.E101D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CCATCACTGTCCTCTTGATCC 0.418000 34 43 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707490 50707490 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:50707490G>A uc002egk.2 - 3 951 c.778C>T c.(778-780)Cgg>Tgg p.R260W SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 260 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 TGGCCCTCCCGGGCCTGCAGG 0.726000 37 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466747 179466747 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179466747C>T uc021vsy.1 - 232 47772 c.47547G>A c.(47545-47547)aaG>aaA p.K15849K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K9544K|TTN_uc021vta.1_Silent_p.K9477K|TTN_uc021vtb.1_Silent_p.K9352K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16776 Fibronectin type-III 15. 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) CTTTCTTTGCCTTTCCATCAA 0.408000 45 32 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155198941 155198941 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:155198941G>A uc021xge.1 - 22 5175 c.4898C>T c.(4897-4899)tCc>tTc p.S1633F PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1595F NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1633 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCGATGTAGGAGCCGGTGGA 0.582000 37 9 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465882 10465882 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:10465882G>A uc003wtc.3 - 3 5955 c.5726C>T c.(5725-5727)cCg>cTg p.P1909L NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1909 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCTGCCTCCGGGGCTTCTGC 0.607000 174 182 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 465366 465366 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:465366C>T uc003jba.3 + 10 2045 c.1917C>T c.(1915-1917)ttC>ttT p.F639F NM_007277 NP_009208 O60645 EXOC3_HUMAN Homo sapiens exocyst complex component 3 (EXOC3), mRNA. 650 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGCTGCGCTTCCTGTTCCGGA 0.682000 10 6 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229835 39229835 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:39229835G>A uc003cjk.2 - 1 1331 c.1102C>T c.(1102-1104)Cca>Tca p.P368S XIRP1_uc003cji.3_Missense_Mutation_p.P368S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P368S NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 368 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCTTGGGTGGGGCCTCTGCT 0.577000 55 111 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883717 228883717 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:228883717C>T uc002vpq.2 - 6 1900 c.1853G>A c.(1852-1854)gGa>gAa p.G618E SPHKAP_uc002vpp.2_Missense_Mutation_p.G618E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G618E NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 618 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTGAGCAATCCCTTGGCAAT 0.522000 7 9 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232209755 232209755 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:232209755C>T uc002vrq.4 + 20 2059 c.1947C>T c.(1945-1947)ccC>ccT p.P649P ARMC9_uc002vrp.4_Silent_p.P649P|ARMC9_uc002vrr.1_Non-coding_Transcript NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 649 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GGGATGAGCCCCTGCAAAGGC 0.552000 30 32 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120178263 120178263 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:120178263G>A uc021qrk.1 + 8 885 c.851G>A c.(850-852)aGa>aAa p.R284K POU2F3_uc001pxc.3_Missense_Mutation_p.R282K|POU2F3_uc010rzk.2_Missense_Mutation_p.R236K|POU2F3_uc010rzl.2_Missense_Mutation_p.R212K|POU2F3_uc001pxe.1_Missense_Mutation_p.R67K NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 282 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGTAGGAAGAGAAAGAAACGG 0.582000 50 108 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847718 123847718 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:123847718G>A uc001pzm.1 - 0 681 c.681C>T c.(679-681)ctC>ctT p.L227L NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AAATAACGATGAGGATGAGGC 0.582000 22 37 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179201279 179201279 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:179201279C>T uc003mkm.3 + 4 2715 c.2452C>T c.(2452-2454)Cct>Tct p.P818S MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA. 818 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACCCTGAACCCTGGTTTAAC 0.597000 23 7 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081659 1081659 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:1081659G>A uc001lsx.1 + 12 1614 c.1587G>A c.(1585-1587)ggG>ggA p.G529G NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 529 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCCTCTGCGGGAACTTCAACG 0.662000 3 15 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184100658 184100658 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:184100658C>T uc003fov.3 + 8 1243 c.997C>T c.(997-999)Ccc>Tcc p.P333S CHRD_uc003fow.3_Intron|CHRD_uc003fox.3_Missense_Mutation_p.P333S|CHRD_uc003foy.3_Intron|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN Homo sapiens chordin (CHRD), mRNA. 333 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AACCCAGGTTCCCTTGAGGCT 0.587000 26 9 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894813 47894813 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:47894813G>A uc003tny.2 - 28 4675 c.4641C>T c.(4639-4641)ccC>ccT p.P1547P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1547 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCTGTTGATGGGTCTTCTGC 0.502000 37 40 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720043 140720043 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140720043C>T uc003ljk.2 + 0 1690 c.1505C>T c.(1504-1506)tCc>tTc p.S502F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S502F NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 504 Cadherin 5. 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) GCACCCTTATCCTCTTACATC 0.527000 37 158 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027332 55027332 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:55027332C>T uc002lgn.3 + 3 1324 c.967C>T c.(967-969)Ccg>Tcg p.P323S NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 323 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TGGATTTTGGCCGTTTGGATT 0.428000 15 27 0 0 1 0 0 KLHL32 114792 broad.mit.edu 37 6 97587155 97587155 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:97587155C>T uc010kcm.1 + 10 2332 c.1860C>T c.(1858-1860)atC>atT p.I620I KLHL32_uc003poz.2_Silent_p.I176I|KLHL32_uc011ead.1_Silent_p.I584I|KLHL32_uc011eae.1_Silent_p.I551I|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA. 620 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TTGGCACCATCTGAAAAGCCA 0.453000 37 13 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75203129 75203130 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:75203129_75203130CC>TT uc003uds.2 - 7 726_727 c.681_682GG>AA c.(679-684)caggtc>caAAtc p.V228I HIP1_uc011kfz.2_Missense_Mutation_p.V228I NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 228 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 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 TCCAAGATGACCTGGATCAGCG 0.535000 T PDGFRB CMML 49 42 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228003822 228003822 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:228003822C>T uc001hrh.3 + 1 180 c.180C>T c.(178-180)atC>atT p.I60I NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGGGGAAAATCCTGGGCGGCG 0.677000 11 149 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103385889 103385889 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:103385889G>A uc001dum.3 - 48 4094 c.3776C>T c.(3775-3777)tCa>tTa p.S1259L COL11A1_uc001duk.3_Missense_Mutation_p.S443L|COL11A1_uc001dul.3_Missense_Mutation_p.S1247L|COL11A1_uc001dun.3_Missense_Mutation_p.S1208L|COL11A1_uc009weh.3_Missense_Mutation_p.S1131L NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1247 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCACCAACTGAACCAACAGA 0.363000 7 167 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376855 94376855 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:94376855C>T uc011cdt.2 + 10 1846 c.1588C>T c.(1588-1590)Cgt>Tgt p.R530C GRID2_uc011cdu.2_Missense_Mutation_p.R435C NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 530 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CACTCCAGATCGTGAAAATGT 0.418000 59 16 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280496 105280496 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:105280496A>T uc010npd.3 - 0 789 c.554T>A c.(553-555)gTt>gAt p.V185D SERPINA7_uc004eme.2_Missense_Mutation_p.V185D|SERPINA7_uc010npe.2_Missense_Mutation_p.V185D NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 185 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TAGACCCACAACTTTCCCTTT 0.408000 12 69 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52556515 52556516 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:52556515_52556516CC>TT uc002lfr.3 + 5 771_772 c.528_529CC>TT c.(526-531)accctt>acTTtt p.L177F NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 177 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CTGTAGAAACCCTTTTGGACTT 0.401000 75 8 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294122 219294122 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:219294122C>T uc002vib.3 + 5 704 c.682C>T c.(682-684)Cac>Tac p.H228Y VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.H228Y|VIL1_uc002vic.1_Missense_Mutation_p.H228Y NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 228 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGATGAACCACGTGCTGGG 0.632000 56 27 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311856 48311856 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:48311856G>A uc003toq.2 + 16 2617 c.2593G>A c.(2593-2595)Gag>Aag p.E865K ABCA13_uc010kyr.2_Missense_Mutation_p.E368K|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 865 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCCAGAAAATGAGATTCTGAG 0.333000 50 51 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158074127 158074127 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:158074127G>A uc003ipj.2 + 8 1364 c.1162G>A c.(1162-1164)Gga>Aga p.G388R GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.G388R NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 388 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TACTGTGAATGGAACAGGGAC 0.418000 28 16 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666294 30666294 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:30666294C>T uc002dyy.3 + 7 1261 c.1003C>T c.(1003-1005)Cct>Tct p.P335S PRR14_uc002dyz.3_Missense_Mutation_p.P180S|PRR14_uc002dza.3_Missense_Mutation_p.P335S|PRR14_uc002dzb.1_Missense_Mutation_p.P149S NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 335 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CTACTCCTGCCCTGATCTGGG 0.682000 45 30 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39750787 39750787 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:39750787A>G uc002xjl.3 + 19 2433 c.2187A>G c.(2185-2187)acA>acG p.T729T BC035080_uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN Homo sapiens topoisomerase (DNA) I (TOP1), mRNA. 729 T -> A (in CPT-resistant lung cancer). DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTAGGATCACAGTGGCTTGGT 0.507000 T NUP98 AML* 74 81 0 0 1 0 0 UCP2 7351 broad.mit.edu 37 11 73686155 73686155 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:73686155G>A uc001oup.1 - 7 1207 c.827C>T c.(826-828)tCc>tTc p.S276F NM_003355 NP_003346 P55851 UCP2_HUMAN Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA. 276 Purine nucleotide binding (By similarity). proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) GCGGAGAAAGGAGGGCATGAA 0.567000 8 5 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183675628 183675628 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:183675628G>A uc003ivd.1 + 20 4183 c.4108G>A c.(4108-4110)Gaa>Aaa p.E1370K ODZ3_uc003ive.1_Missense_Mutation_p.E783K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1370 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ACAGATCACTGAAAATCGTCA 0.473000 13 12 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231155212 231155212 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:231155212G>A uc002vql.3 + 18 1873 c.1758G>A c.(1756-1758)aaG>aaA p.K586K SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.K472K|SP140_uc002vqm.3_Silent_p.K526K|SP140_uc010fxl.3_Silent_p.K559K NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 586 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGGATTTTAAGGCTCCTTTGC 0.433000 46 38 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99608308 99608308 + Nonsense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:99608308A>T uc003yio.3 - 8 1332 c.858T>A c.(856-858)tgT>tgA p.C286* STK3_uc003yip.3_Nonsense_Mutation_p.C258*|STK3_uc010mbm.1_Nonsense_Mutation_p.C147* NM_006281 NP_006272 Q13188 STK3_HUMAN Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA. 258 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TCTTCACCAAACACTTTTTAA 0.403000 40 27 0 0 1 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9159803 9159803 + RNA SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrY:9159803C>T uc004frl.1 - 1 c.209G>A Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. CCTTTCCATTCATATCTTTGG 0.318000 8 30 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9364934 9364934 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:9364934G>A uc021wam.1 + 10 955 c.940G>A c.(940-942)Gaa>Aaa p.E314K PLCB4_uc010gbw.1_Missense_Mutation_p.E314K|PLCB4_uc010gbx.3_Missense_Mutation_p.E314K|PLCB4_uc021wal.1_Missense_Mutation_p.E314K|PLCB4_uc002wnh.3_Missense_Mutation_p.E161K NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 314 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ACTTTACCAAGAAATGGACCA 0.443000 138 30 0 0 1 0 0 IMMP2L 83943 broad.mit.edu 37 7 111161452 111161452 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:111161452C>T uc003vfq.2 - 1 495 c.52G>A c.(52-54)Ggc>Agc p.G18S IMMP2L_uc010ljr.2_Missense_Mutation_p.G18S|IMMP2L_uc003vfr.3_Missense_Mutation_p.G18S NM_032549 NP_115938 Q96T52 IMP2L_HUMAN Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 18 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) ACAAAGAAGCCTTTACAAAAG 0.438000 34 54 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86493599 86493599 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:86493599C>T uc003uid.3 + 6 3666 c.2567_splice c.e6-1 p.S856_splice GRM3_uc010lef.3_Splice_Site_p.V498_splice|GRM3_uc010leg.3_Splice_Site_p.S728_splice|GRM3_uc010leh.3_Splice_Site_p.S448_splice NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 856 S -> Y (in Ref. 3; AAH22496). synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTTTTCCAGCCTCTGCAAGCA 0.488000 34 38 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77320971 77320971 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:77320971G>A uc002bcf.2 + 6 944 c.494G>A c.(493-495)gGc>gAc p.G165D PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_Missense_Mutation_p.G43D|PSTPIP1_uc010bku.1_Missense_Mutation_p.G156D|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Missense_Mutation_p.G165D NM_003978 NP_003969 O43586 PPIP1_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA. 165 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 AGCGCCAACGGCCACCAGAAG 0.677000 2 4 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072631 31072631 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:31072631C>T uc021tgt.1 - 3 2043 c.1687G>A c.(1687-1689)Gag>Aag p.E563K ZNF668_uc010cag.2_Missense_Mutation_p.E540K|ZNF668_uc010caf.3_Missense_Mutation_p.E540K|ZNF668_uc002eao.3_Missense_Mutation_p.E540K NM_001172669 NP_078982 Q96K58 ZN668_HUMAN Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA. 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GGCCGGAGCTCCGGGTGTGAG 0.652000 40 48 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56348519 56348519 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:56348519C>T uc002lhm.1 + 1 585 c.327C>T c.(325-327)ttC>ttT p.F109F MALT1_uc002lhn.1_Silent_p.F109F NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA. 109 Death. T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TGAGTGATTTCCTGCAGGCTA 0.468000 T BIRC3 MALT 48 12 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70974854 70974854 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:70974854C>T uc001swb.4 - 7 1916 c.1886G>A c.(1885-1887)gGg>gAg p.G629E PTPRB_uc010sto.2_Missense_Mutation_p.G629E|PTPRB_uc010stp.2_Missense_Mutation_p.G539E|PTPRB_uc001swc.4_Missense_Mutation_p.G847E|PTPRB_uc001swa.4_Missense_Mutation_p.G847E|PTPRB_uc001swd.4_Missense_Mutation_p.G846E|PTPRB_uc009zrr.2_Missense_Mutation_p.G726E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 629 Fibronectin type-III 7. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAAGAGATCCCTCCACTCAC 0.468000 19 32 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692517 135692517 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:135692517C>T uc003lbn.2 - 1 781 c.559G>A c.(559-561)Ggc>Agc p.G187S TRPC7_uc010jef.2_Missense_Mutation_p.G178S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.G187S|TRPC7_uc010jei.2_Missense_Mutation_p.G187S NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 187 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGCGGGCGCCCTTGAGCAGC 0.617000 211 29 0 0 1 0 0 TMEM88 92162 broad.mit.edu 37 17 7758981 7758981 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:7758981G>A uc002giy.3 + 1 438 c.429G>A c.(427-429)cgG>cgA p.R143R CYB5D1_uc002gjb.4_5'Flank NM_203411 NP_981956 Q6PEY1 TMM88_HUMAN Homo sapiens transmembrane protein 88 (TMEM88), mRNA. 143 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) GGCAAATCCGGGCCTCACCAG 0.662000 1 11 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862691 154862691 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:154862691G>A uc003wlu.1 + 0 146 c.82G>A c.(82-84)Gac>Aac p.D28N LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 28 integral to plasma membrane serotonin receptor activity p.D28H(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGGCAAAGACGACCTGCGCCC 0.607000 45 59 0 0 1 0 0 DNAL4 10126 broad.mit.edu 37 22 39175483 39175483 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:39175483G>A uc003awj.3 - 3 517 c.289C>T c.(289-291)Ctg>Ttg p.L97L SUN2_uc010gxr.2_Intron NM_005740 NP_005731 O96015 DNAL4_HUMAN Homo sapiens dynein, axonemal, light chain 4 (DNAL4), mRNA. 97 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity lung(1)|skin(1) 2 Melanoma(58;0.04) CACACAGCCAGGGTGCCCCCG 0.627000 4 4 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32720837 32720837 + Missense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:32720837T>G uc001mtv.3 - 5 394 c.350A>C c.(349-351)aAa>aCa p.K117T CCDC73_uc001mtw.1_Missense_Mutation_p.K117T|CCDC73_uc009yjt.3_Missense_Mutation_p.K117T NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 117 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTCTATTTCTTTTTCCTTTAT 0.244000 2 7 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28849369 28849369 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:28849369G>A uc002rmb.2 + 50 3698 c.3654G>A c.(3652-3654)gaG>gaA p.E1218E PLB1_uc010ezj.2_Silent_p.E1207E|PLB1_uc002rme.2_Silent_p.E183E NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1218 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ATTACTGTGAGAATCCGGTAG 0.562000 33 20 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044558 9044558 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:9044558G>A uc003jek.2 - 21 3744 c.3032C>T c.(3031-3033)cCt>cTt p.P1011L NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 1011 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AAGGGGGGCAGGTGAGACGGG 0.517000 64 72 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50230308 50230308 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:50230308A>G uc002xwg.1 - 22 2479 c.2479T>C c.(2479-2481)Ttg>Ctg p.L827L ATP9A_uc010gih.1_Silent_p.L691L|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 827 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 ACCATAAGCAACCGGCCAAGA 0.507000 172 142 0 0 1 0 0 GPR143 4935 broad.mit.edu 37 X 9714140 9714140 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:9714140G>A uc004cst.2 - 4 750 c.602C>T c.(601-603)cCc>cTc p.P201L NM_000273 NP_000264 P51810 GP143_HUMAN Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. 201 calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) CAGCAGCAGGGGCAGGTACAT 0.547000 6 31 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51499413 51499413 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:51499413C>T uc002puq.1 - 5 1006 c.820G>A c.(820-822)Ggc>Agc p.G274S KLK8_uc002pur.1_Missense_Mutation_p.G229S|KLK8_uc002pus.1_Missense_Mutation_p.G88S|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.G229S|KLK8_uc002puv.1_Non-coding_Transcript NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 229 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.G274A(1)|p.G274V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GGGTCTGAGCCCCAGGATGTG 0.562000 67 42 0 0 1 0 0 TCEA1 6917 broad.mit.edu 37 8 54934667 54934667 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:54934667G>A uc003xru.3 - 0 342 c.19C>T c.(19-21)Cgc>Tgc p.R7C TCEA1_uc003xrv.3_Missense_Mutation_p.R7C|TCEA1_uc011ldw.2_Missense_Mutation_p.R7C|TCEA1_uc003xrw.1_Non-coding_Transcript NM_006756 NP_006747 P23193 TCEA1_HUMAN Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA. 7 TFIIS N-terminal. positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding p.R6T(1) breast(1)|large_intestine(1)|lung(1)|skin(1) 4 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) TTGGCAAAGCGGACCACTTCG 0.692000 T PLAG1 salivary adenoma 83 28 0 0 1 0 0 DPP7 29952 broad.mit.edu 37 9 140006201 140006201 + Silent SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:140006201T>G uc004clh.3 - 10 1243 c.1213A>C c.(1213-1215)Aga>Cga p.R405R NM_013379 NP_037511 Q9UHL4 DPP2_HUMAN Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA. 405 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) CTGGCGGCTCTGAGATCTGCA 0.632000 72 16 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36342372 36342372 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:36342372C>T uc002oby.3 - 1 417 c.261G>A c.(259-261)ggG>ggA p.G87G NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 87 Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TAGCAGGGTCCCCTTCCAGGC 0.667000 15 9 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169632959 169632959 + Missense_Mutation SNP C T T rs138283237 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:169632959C>T uc011cjx.2 + 9 2060 c.1849C>T c.(1849-1851)Cgt>Tgt p.R617C PALLD_uc003iru.3_Missense_Mutation_p.R617C|PALLD_uc003irv.3_Missense_Mutation_p.R235C NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 617 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCATCCCAGCCGTGGAGTAAA 0.512000 Pancreatic Cancer, Familial Clustering of 33 36 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23401333 23401333 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:23401333C>T uc003swg.3 - 3 579 c.313G>A c.(313-315)Gga>Aga p.G105R NM_006547 NP_006538 O00425 IF2B3_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA. 105 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TCCACCACTCCATACTGGACT 0.373000 18 26 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110492257 110492257 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:110492257G>A uc003yne.3 + 54 9320 c.9216G>A c.(9214-9216)atG>atA p.M3072I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3072 G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGCCATCAATGGAAAGACTCA 0.328000 HNSCC(38;0.096) 11 5 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107444 45107444 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:45107444C>T uc002zdk.3 + 12 1303 c.1189C>T c.(1189-1191)Caa>Taa p.Q397* RRP1B_uc002zdl.3_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA. 397 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) AAGCAGTCTTCAAAAGAGAAG 0.532000 51 32 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15122737 15122737 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:15122737C>T uc002dda.4 + 14 1431 c.1207C>T c.(1207-1209)Ccg>Tcg p.P403S PDXDC1_uc010uzl.2_Missense_Mutation_p.P388S|PDXDC1_uc010uzm.2_Missense_Mutation_p.P312S|PDXDC1_uc002dcz.3_Missense_Mutation_p.P380S|PDXDC1_uc002ddb.4_Missense_Mutation_p.P376S|PDXDC1_uc010uzn.2_Missense_Mutation_p.P375S|PDXDC1_uc002ddc.3_Missense_Mutation_p.P403S NM_015027 NP_055842 Q6P996 PDXD1_HUMAN Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA. 403 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGTGTCAGATCCGGTGTTTAA 0.537000 30 4 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907966 12907966 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:12907966C>T uc010obf.2 - 1 403 c.177G>A c.(175-177)aaG>aaA p.K59K LOC649330_uc009vno.2_Silent_p.K59K NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 59 nucleic acid binding|nucleotide binding CATTTTTCTCCTTATCATATT 0.473000 129 66 0 0 1 0 0 NXPH4 11247 broad.mit.edu 37 12 57619023 57619023 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:57619023C>T uc010srf.2 + 1 595 c.420C>T c.(418-420)ttC>ttT p.F140F NXPH4_uc009zpj.3_5'UTR NM_007224 NP_009155 O95158 NXPH4_HUMAN Homo sapiens neurexophilin 4 (NXPH4), mRNA. 140 III. neuropeptide signaling pathway extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 10 GTGTGTATTTCCGCCACAACT 0.607000 30 34 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28925686 28925686 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:28925686G>A uc002drq.3 - 4 813 c.765C>T c.(763-765)ggC>ggT p.G255G NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.G184G|RABEP2_uc010byn.3_Silent_p.G255G|RABEP2_uc002drr.3_Silent_p.G255G NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA. 255 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 CAGGGCTCAGGCCCTGGCGGC 0.667000 29 19 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45795178 45795179 + Missense_Mutation DNP TT AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:45795178_45795179TT>AA uc003bgc.3 - 5 961_962 c.909_910AA>TT c.(907-912)gaaaac>gaTTac p.303_304EN>DY SMC1B_uc003bgd.3_Missense_Mutation_p.303_304EN>DY|SMC1B_uc003bge.1_Missense_Mutation_p.86_87EN>DY NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 303 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGAGAAGTGTTTTCTTTGGCTT 0.337000 32 43 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39811063 39811063 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:39811063T>C uc003axt.3 + 1 135 c.86T>C c.(85-87)gTt>gCt p.V29A TAB1_uc003axr.3_Missense_Mutation_p.V105A|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.V29A NM_006116 NP_006107 Q15750 TAB1_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA. 29 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 CTCTCTGGGGTTGGCTCAGCC 0.632000 27 19 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530384 125530384 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:125530384G>A uc010flu.3 + 16 2906 c.2542G>A c.(2542-2544)Gag>Aag p.E848K CNTNAP5_uc002tno.3_Missense_Mutation_p.E847K NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 847 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGCTCCTTCAGAGATCACCTT 0.483000 24 15 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576865 7576865 + Nonsense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:7576865A>T uc002gim.2 - 8 1175 c.981T>A c.(979-981)taT>taA p.Y327* TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Y327*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Y195*|TP53_uc010cnf.1_Nonsense_Mutation_p.Y195*|TP53_uc002gii.1_Nonsense_Mutation_p.Y195*|TP53_uc010cni.1_Nonsense_Mutation_p.Y327*|TP53_uc010cnh.1_Nonsense_Mutation_p.Y327*|TP53_uc002gij.2_Nonsense_Mutation_p.Y327*|DL476313_uc021tpe.1_Non-coding_Transcript|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 327 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Y -> H (in a sporadic cancer; somatic mutation).|Y -> S (in a sporadic cancer; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y327*(10)|p.0?(8)|p.E326*(4)|p.Y327fs*9(2)|p.Y327fs*1(2)|p.?(1)|p.Y327D(1)|p.E326K(1)|p.Y327fs*10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGGGTGAAATATTCTCCAT 0.443000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 45 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113890349 113890349 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:113890349C>T uc002tjb.3 + 3 499 c.435C>T c.(433-435)ttC>ttT p.F145F IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.F148F|IL1RN_uc002tiy.3_Silent_p.F111F|IL1RN_uc002tja.3_Silent_p.F127F NM_173842 NP_776215 P18510 IL1RA_HUMAN Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA. 145 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) CCGGTTGGTTCCTCTGCACAG 0.577000 Lichen Sclerosis et Atrophicus, Familial Clustering of 71 33 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40709527 40709527 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:40709527A>T uc002xkg.3 - 30 4502 c.4318T>A c.(4318-4320)Tcc>Acc p.S1440T PTPRT_uc010ggj.3_Missense_Mutation_p.S1459T|PTPRT_uc010ggi.3_Missense_Mutation_p.S643T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1440 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCTAAAAGGAGCTTAAATAT 0.527000 54 36 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6472141 6472141 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:6472141G>A uc001mdh.3 - 9 2247 c.1851C>T c.(1849-1851)gcC>gcT p.A617A TRIM3_uc001mdi.3_Silent_p.A617A|TRIM3_uc010raj.2_Silent_p.A498A|TRIM3_uc009yfd.3_Silent_p.A617A|TRIM3_uc010rak.1_Silent_p.A617A NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 617 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCGGTCAGTGGCCCCACGGC 0.547000 21 32 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115303764 115303764 + Silent SNP G A A rs138706948 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:115303764G>A uc022cdd.1 + 0 231 c.231G>A c.(229-231)aaG>aaA p.K77K AGTR2_uc004eqh.4_Silent_p.K77K NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 77 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity p.K76E(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 GTCCTAAAAAGGTTTCTAGCA 0.363000 5 58 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77407641 77407641 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:77407641T>C uc004ajl.1 - 18 2675 c.2437A>G c.(2437-2439)Aat>Gat p.N813D TRPM6_uc004ajk.1_Missense_Mutation_p.N808D|TRPM6_uc022bib.1_Missense_Mutation_p.N808D|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. 813 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 AAATGCTGATTTTCATCCAGT 0.373000 5 32 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47406756 47406756 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:47406756G>A uc002leb.2 - 22 3403 c.3115C>T c.(3115-3117)Ctg>Ttg p.L1039L MYO5B_uc002lea.2_Silent_p.L180L NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1039 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GACTGGCACAGGATTTGGTTG 0.433000 209 21 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133733157 133733157 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:133733157T>A uc009zzb.3 + 4 1772 c.1325T>A c.(1324-1326)tTt>tAt p.F442Y ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.F442Y NM_015394 NP_056209 P21506 ZNF10_HUMAN Homo sapiens zinc finger protein 10 (ZNF10), mRNA. 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GGAAAATGTTTTAGTCGAAGC 0.408000 58 16 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271750 59271750 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:59271750G>A uc001noa.1 + 0 702 c.702G>A c.(700-702)agG>agA p.R234R NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GGGGCAGGAGGAAAGCCATCT 0.562000 51 106 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017784 17017784 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:17017784G>A uc002nfb.3 - 29 4178 c.4146C>T c.(4144-4146)ctC>ctT p.L1382L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1335 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 CCAGGCTACGGAGCTTGCGCA 0.642000 4 7 0 0 1 0 0 DHH 50846 broad.mit.edu 37 12 49488070 49488070 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:49488070C>T uc001rtf.3 - 0 533 c.226G>A c.(226-228)Gac>Aac p.D76N NM_021044 NP_066382 O43323 DHH_HUMAN Homo sapiens desert hedgehog (DHH), mRNA. 76 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 GGCACGAGGTCCCGGAAGCGC 0.642000 50 18 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307856 47307856 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:47307856G>A uc004dhs.4 - 3 1506 c.1439C>T c.(1438-1440)cCt>cTt p.P480L ZNF41_uc004dhu.4_Missense_Mutation_p.P472L|ZNF41_uc004dht.4_Missense_Mutation_p.P352L|ZNF41_uc004dhv.4_Missense_Mutation_p.P448L|ZNF41_uc004dhw.4_Missense_Mutation_p.P440L|ZNF41_uc004dhy.4_Missense_Mutation_p.P438L|ZNF41_uc004dhx.4_Missense_Mutation_p.P438L|ZNF41_uc011mlm.2_Missense_Mutation_p.P352L NM_153380 NP_700359 P51814 ZNF41_HUMAN Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA. 480 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GCATACATAAGGTTTCTCTCC 0.443000 0 34 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924951 227924951 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:227924951C>T uc021vxr.1 - 25 2166 c.2065G>A c.(2065-2067)Gga>Aga p.G689R COL4A4_uc021vxs.1_Missense_Mutation_p.G689R NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 689 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGAAATCCCTTCGGACCT 0.438000 29 13 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42885826 42885826 + Missense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:42885826T>G uc010zwl.2 + 1 281 c.214T>G c.(214-216)Tgc>Ggc p.C72G GDAP1L1_uc002xlp.1_Missense_Mutation_p.C72G|GDAP1L1_uc002xlq.3_Missense_Mutation_p.C72G|GDAP1L1_uc010zwm.2_Missense_Mutation_p.C72G|GDAP1L1_uc010zwn.2_Intron NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA. 72 GST N-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGGCCTGGTGTGCGAGGAGCG 0.697000 11 5 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77104307 77104307 + Nonsense_Mutation SNP C T T rs147932692 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:77104307C>T uc002lmx.3 + 20 2439 c.2425C>T c.(2425-2427)Cga>Tga p.R809* ATP9B_uc002lmw.1_Nonsense_Mutation_p.R809*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.R503*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 809 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GAATGCATTTCGAAGGAAGCA 0.473000 41 6 0 0 1 0 0 C20orf151 140893 broad.mit.edu 37 20 60986024 60986024 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:60986024C>T uc002ycw.2 - 13 2102 c.1905G>A c.(1903-1905)agG>agA p.R635R NM_080833 NP_543023 Q8NC74 CT151_HUMAN Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA. 635 large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1) 12 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) CTGTCAGTTTCCTTCTCCCTC 0.637000 128 74 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81271602 81271602 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:81271602G>A uc002bfy.1 - 2 736 c.663C>T c.(661-663)tcC>tcT p.S221S MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron NM_015154 NP_055969 Q14696 MESD_HUMAN Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA. 221 Wnt receptor signaling pathway|mesoderm development|protein folding endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 TTTCTTCCTTGGAAGACCGAG 0.498000 49 24 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60913306 60913306 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:60913306G>A uc002ycq.3 - 12 1805 c.1738C>T c.(1738-1740)Cac>Tac p.H580Y LAMA5_uc021wfw.1_Missense_Mutation_p.H580Y NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 580 Laminin EGF-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGGGAAGTGAAAGTAGCCG 0.667000 12 9 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83218370 83218370 + Missense_Mutation SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:83218370A>T uc002bit.3 - 8 1571 c.1434T>A c.(1432-1434)ttT>ttA p.F478L CPEB1_uc002bir.3_Missense_Mutation_p.F343L|CPEB1_uc002bis.3_Missense_Mutation_p.F338L|CPEB1_uc010uod.2_Missense_Mutation_p.F187L|CPEB1_uc002biq.3_Missense_Mutation_p.F338L|CPEB1_uc010uoe.2_Missense_Mutation_p.F416L|CPEB1_uc002biu.3_Missense_Mutation_p.F440L|CPEB1_uc010uof.2_Missense_Mutation_p.F338L|CPEB1_uc002biv.3_Missense_Mutation_p.F413L|CPEB1_uc002bip.3_Missense_Mutation_p.F187L NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA. 418 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) GGCTCCGGACAAAGTTACTGT 0.562000 38 16 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140235907 140235907 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140235907G>A uc003lhx.2 + 0 274 c.274G>A c.(274-276)Gag>Aag p.E92K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E92K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E92K NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 108 Cadherin 1. 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) GATTGACCGCGAGGAGCTGTG 0.577000 516 83 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373002 5373002 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:5373002G>A uc010qzb.2 + 0 265 c.265G>A c.(265-267)Gag>Aag p.E89K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R88K(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATCACAGGGAGATTGGCCA 0.478000 20 43 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28826894 28826894 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:28826894G>A uc002rmb.2 + 39 2880 c.2836G>A c.(2836-2838)Gcc>Acc p.A946T PLB1_uc010ezj.2_Missense_Mutation_p.A935T|PLB1_uc002rme.2_Intron NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 946 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGCTGGAGGCCTTCAGCCG 0.607000 27 21 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130764977 130764977 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:130764977T>C uc003ysr.3 - 6 1693 c.811A>G c.(811-813)Aat>Gat p.N271D NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 271 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 gatgaggcattgaagagggtt 0.408000 96 14 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69870613 69870613 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:69870613C>T uc011cao.1 - 7 1542 c.1416G>A c.(1414-1416)tgG>tgA p.W472* UGT2B10_uc011can.1_Nonsense_Mutation_p.W388* P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 516 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G471E(1) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TAGCGAACTTCCAGAAACAAA 0.418000 46 18 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11145668 11145668 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:11145668C>T uc010dxp.3 + 29 4390 c.4030C>T c.(4030-4032)Ccc>Tcc p.P1344S SMARCA4_uc010dxo.3_Missense_Mutation_p.P1344S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1344S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1311S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1311S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1311S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1311S|SMARCA4_uc010dxt.1_Missense_Mutation_p.P531S|SMARCA4_uc002mqh.4_Missense_Mutation_p.P434S|SMARCA4_uc002mqi.1_Missense_Mutation_p.P514S NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 1344 chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGACGAGCTCCCCTCGTGGAT 0.687000 """F, N, Mis""" NSCLC 15 10 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683174 140683174 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:140683174A>G uc003ljf.3 - 0 439 c.259T>C c.(259-261)Ttc>Ctc p.F87L NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA. 87 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TGCTGGCAGAACCCGTAGCAC 0.592000 43 191 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124399018 124399018 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:124399018G>A uc001uft.4 + 59 10166 c.10141G>A c.(10141-10143)Gac>Aac p.D3381N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3381 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTGGCAAAATGACATCCTGGA 0.602000 31 6 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97339513 97339513 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:97339513C>T uc001tew.3 + 12 1864 c.1718C>T c.(1717-1719)tCa>tTa p.S573L NEDD1_uc001teu.4_Missense_Mutation_p.S566L|NEDD1_uc001tev.4_Missense_Mutation_p.S566L|NEDD1_uc010svc.2_Missense_Mutation_p.S477L|NEDD1_uc001tex.3_Missense_Mutation_p.S477L NM_001135175 NP_001128649 Q8NHV4 NEDD1_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA. 566 G2/M transition of mitotic cell cycle|cell division|mitosis cytosol p.D573N(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GTTGCCAGTTCACTCTCAGAA 0.368000 4 14 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4944606 4944606 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:4944606C>T uc002cyd.1 - 11 1346 c.1256G>A c.(1255-1257)cGg>cAg p.R419Q NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 419 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCTGTAGCCCCGCGAGATCAG 0.647000 50 11 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77614213 77614213 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:77614213G>A uc011bgk.2 + 12 2446 c.1803G>A c.(1801-1803)gcG>gcA p.A601A ROBO2_uc021xat.1_Silent_p.A613A|ROBO2_uc003dpy.4_Silent_p.A597A|ROBO2_uc003dpz.3_Silent_p.A601A|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 597 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGTCAGAGCGATCAACCCCC 0.498000 28 48 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24587348 24587348 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:24587348C>T uc001wlv.3 + 5 841 c.561C>T c.(559-561)ttC>ttT p.F187F DCAF11_uc001wlw.3_Silent_p.F187F|DCAF11_uc001wlz.3_Silent_p.F87F|DCAF11_uc001wly.3_Silent_p.F143F|DCAF11_uc010tny.2_Silent_p.F54F|DCAF11_uc001wmc.3_Silent_p.F87F|DCAF11_uc001wmb.4_Silent_p.F161F|DCAF11_uc001wma.4_Silent_p.F187F NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 187 CUL4 RING ubiquitin ligase complex protein binding GTCAAATATTCATGTCTGCTT 0.493000 41 54 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25062747 25062747 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:25062747G>A uc010ykm.2 - 5 1549 c.1350C>T c.(1348-1350)atC>atT p.I450I ADCY3_uc002rfr.4_Silent_p.I61I|ADCY3_uc002rfs.4_Silent_p.I450I NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 450 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CTCACCCAGGGATGCCGCCGG 0.672000 59 61 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131848633 131848633 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:131848633G>A uc003ytd.4 - 11 2821 c.2565C>T c.(2563-2565)tcC>tcT p.S855S ADCY8_uc010mds.3_Silent_p.S724S NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 855 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) GCTTCAGGACGGAGTTCAGCC 0.537000 HNSCC(32;0.087) 95 44 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10907864 10907864 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:10907864G>A uc003mzo.3 + 9 1062 c.766G>A c.(766-768)Gat>Aat p.D256N SYCP2L_uc011din.1_Missense_Mutation_p.D97N|SYCP2L_uc010jow.3_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 256 nucleus p.D256E(1) 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) ATGGTTTGATGATGAAGTCAT 0.363000 51 43 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42883111 42883111 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:42883111G>A uc002ihj.3 - 1 586 c.75C>T c.(73-75)ctC>ctT p.L25L GJC1_uc002ihk.3_Silent_p.L25L|GJC1_uc002ihl.3_Silent_p.L25L|GJC1_uc021tyf.1_Silent_p.L25L NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 25 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TCAGAACAGTGAGCCAGATCT 0.473000 6 24 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48035030 48035030 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:48035030A>C uc003gxw.3 + 3 457 c.391A>C c.(391-393)Aat>Cat p.N131H NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 131 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 AGAGGCTGCAAATTTTGCTGC 0.448000 23 12 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21752163 21752163 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:21752163G>A uc010iuc.2 - 11 2526 c.2068C>T c.(2068-2070)Cgc>Tgc p.R690C CDH12_uc011cno.1_Missense_Mutation_p.R650C|CDH12_uc003jgk.2_Missense_Mutation_p.R690C|BC038535_uc003jgj.3_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 690 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R690H(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 ATATCCCTGCGAATTTTGTTC 0.463000 HNSCC(59;0.17) 73 29 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7310180 7310180 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:7310180C>T uc001qss.3 + 15 3197 c.2659C>T c.(2659-2661)Cgc>Tgc p.R887C CLSTN3_uc001qsr.3_Missense_Mutation_p.R875C|CLSTN3_uc001qst.3_Missense_Mutation_p.R283C NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 875 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TTCCCTTCACCGCCGCGTCTC 0.637000 12 4 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023733 31023733 + Missense_Mutation SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:31023733G>T uc021wbw.1 + 12 3650 c.3218G>T c.(3217-3219)cGc>cTc p.R1073L ASXL1_uc002wxs.3_Missense_Mutation_p.R1072L|ASXL1_uc010geb.3_Missense_Mutation_p.R964L NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1073 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TGTGCGGTCCGCCAAAAGATC 0.572000 """F, N, Mis""" """MDS, CMML""" 92 104 4.05343e-56 4.12017e-56 1 1 0 PTPRE 5791 broad.mit.edu 37 10 129875949 129875949 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:129875949C>T uc009yat.3 + 19 2244 c.1827C>T c.(1825-1827)atC>atT p.I609I PTPRE_uc001lkb.3_Silent_p.I598I|PTPRE_uc009yau.2_Silent_p.I598I|PTPRE_uc001lkd.3_Silent_p.I540I|PTPRE_uc010quq.1_Silent_p.I499I NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 598 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGCCTGAGATCGGGATTCCCG 0.652000 2 16 0 0 1 0 0 TCRBV14S1 0 broad.mit.edu 37 7 142423259 142423259 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:142423259G>A uc010lol.1 + 0 77 c.44G>A c.(43-45)gGa>gAa p.G15E TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_5'Flank|TCRBV14S1_uc022ant.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TGCCTTCTAGGAGCAGGTGAG 0.537000 19 19 0 0 1 0 0 RNASE13 440163 broad.mit.edu 37 14 21502011 21502011 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:21502011G>A uc021rot.1 - 0 437 c.437C>T c.(436-438)cCa>cTa p.P146L NDRG2_uc010tll.2_Intron|RNASE13_uc001vzj.3_Missense_Mutation_p.P146L NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN Homo sapiens ribonuclease, RNase A family, 13 (non-active) (RNASE13), mRNA. 146 extracellular region nucleic acid binding|pancreatic ribonuclease activity cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) GATACCTATTGGATCAGCTTC 0.517000 58 82 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124757395 124757395 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:124757395C>T uc001qbg.3 - 14 2197 c.2057_splice c.e14-1 p.G686_splice ROBO4_uc010sas.2_Splice_Site_p.G541_splice|ROBO4_uc001qbh.2_Splice_Site_p.G576_splice|ROBO4_uc001qbi.3_Splice_Site_p.G244_splice NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 686 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGGCACAGCTCCTGGGGAAGA 0.632000 33 14 0 0 1 0 0 C17orf57 124989 broad.mit.edu 37 17 45452041 45452041 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:45452041A>G uc002iln.3 + 11 1512 c.1081A>G c.(1081-1083)Aaa>Gaa p.K361E C17orf57_uc002ilm.3_Missense_Mutation_p.K265E|C17orf57_uc002ill.1_Missense_Mutation_p.K117E|C17orf57_uc010daz.1_Missense_Mutation_p.K313E NM_152347 NP_689560 Q8IY85 CQ057_HUMAN Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA. 361 calcium ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3) 36 TAAAAGACCAAAAAATACTTG 0.323000 6 24 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479668 4479668 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:4479668C>T uc001qmq.1 - 2 743 c.597G>A c.(595-597)atG>atA p.M199I NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. 199 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.R198W(1)|p.R198Q(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GGGCCGGGGTCATCCGGGCCC 0.682000 22 9 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33740224 33740224 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:33740224G>A uc002rox.3 + 3 648 c.21G>A c.(19-21)ggG>ggA p.G7G RASGRP3_uc010ync.2_Silent_p.G7G|RASGRP3_uc002roy.3_Silent_p.G7G NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 7 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GTGGCCTTGGGAAAGCAGCAA 0.428000 71 54 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119029362 119029362 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:119029362C>T uc001pvs.3 + 10 1599 c.1263C>T c.(1261-1263)ttC>ttT p.F421F ABCG4_uc009zar.3_Silent_p.F421F NM_022169 NP_071452 Q9H172 ABCG4_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA. 421 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCAAGGTCTTCAACAACACCG 0.587000 108 28 0 0 1 0 0 IFNA14 3448 broad.mit.edu 37 9 21239370 21239370 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:21239370C>T uc010mis.3 - 0 609 c.565G>A c.(565-567)Gat>Aat p.D189N IFNA14_uc003zoo.1_Non-coding_Transcript NM_002172 NP_002163 P01570 IFN14_HUMAN Homo sapiens interferon, alpha 14 (IFNA14), mRNA. 189 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGTTTTCAATCCTTCCTCCTT 0.388000 25 148 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20651903 20651903 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:20651903G>A uc002dhm.1 - 6 1064 c.996C>T c.(994-996)atC>atT p.I332I ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.I332I NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 332 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding p.I332V(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CAGGGAACCTGATGCTTAGAG 0.552000 31 32 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51293309 51293309 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:51293309C>T uc001zyx.2 + 19 3289 c.3182C>T c.(3181-3183)tCt>tTt p.S1061F AP4E1_uc021skz.1_Missense_Mutation_p.S986F|AP4E1_uc010bex.1_Non-coding_Transcript NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA. 1061 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ATGTCAGAATCTCAAGCTGCA 0.338000 52 29 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707812 14707812 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:14707812G>A uc010dzn.2 + 8 647 c.570G>A c.(568-570)gtG>gtA p.V190V CLEC17A_uc010dzo.2_Silent_p.V190V|CLEC17A_uc002mzh.2_Silent_p.V173V|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Silent_p.V190V NM_001204118 NP_001191047 Q6ZS10 CL17A_HUMAN Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA. 190 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GTCTCACTGTGACCCTGATTA 0.567000 6 7 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14852054 14852054 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:14852054G>A uc010dlo.2 + 35 3934 c.3754G>A c.(3754-3756)Gat>Aat p.D1252N ANKRD30B_uc021uhy.1_Missense_Mutation_p.D1252N|ANKRD30B_uc010xal.1_Missense_Mutation_p.D394N NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 1337 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TTATGCAGGAGATGATCTAAG 0.353000 17 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089999 9089999 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9089999G>A uc002mkp.3 - 0 2020 c.1816C>T c.(1816-1818)Ccc>Tcc p.P606S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 606 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V605F(1) 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 ATCCCAGTGGGAACAGCAAAC 0.542000 24 21 0 0 1 0 0 SPN 6693 broad.mit.edu 37 16 29675913 29675913 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:29675913C>T uc021tgd.1 + 0 864 c.864C>T c.(862-864)ctC>ctT p.L288L BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Silent_p.L288L|SPN_uc002dtn.3_Silent_p.L288L NM_003123 NP_003114 P16150 LEUK_HUMAN Homo sapiens sialophorin (SPN), transcript variant 2, mRNA. 288 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CTGGGGCCCTCGTGCTGAGCA 0.706000 5 5 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35317155 35317155 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:35317155G>A uc002xfw.3 - 3 268 c.126C>T c.(124-126)gtC>gtT p.V42V NDRG3_uc002xfx.3_Silent_p.V30V|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 42 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) TAGTGACGTGGACCACACCAT 0.388000 77 52 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520597 33520597 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:33520597G>A uc002hjd.2 - 0 816 c.730C>T c.(730-732)Ccc>Tcc p.P244S NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 244 integral to membrane GGCAACACGGGGGCCTGCAGC 0.622000 13 82 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681461 125681461 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:125681461G>A uc004bnk.3 - 1 827 c.753C>T c.(751-753)atC>atT p.I251I ZBTB26_uc004bnj.3_Silent_p.I251I|ZBTB26_uc022bnc.1_Silent_p.I251I NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TTGAGGCCATGATGATGTTAT 0.433000 12 89 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41019008 41019008 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:41019008C>T uc003jmj.4 - 24 3044 c.2554G>A c.(2554-2556)Gac>Aac p.D852N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D407N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 852 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 TTGTCCTTGTCTGTCTGGCCT 0.502000 40 16 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49850122 49850122 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:49850122C>T uc003cxr.3 - 4 688 c.517G>A c.(517-519)Gag>Aag p.E173K NM_003335 NP_003326 P41226 UBA7_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA. 173 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGTTCTGCCTCTGTGGGGTCC 0.572000 15 22 0 0 1 0 0 C4orf37 285555 broad.mit.edu 37 4 99030457 99030457 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:99030457C>T uc003htt.2 - 4 478 c.388_splice c.e4-1 p.D130_splice NM_174952 NP_777612 Q8N412 CD037_HUMAN Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA. 130 cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TGGAAACATCCTAAAAAATAA 0.328000 25 6 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23319624 23319624 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:23319624G>A uc001irm.4 + 16 2228 c.2145G>A c.(2143-2145)tgG>tgA p.W715* ARMC3_uc010qcv.2_Nonsense_Mutation_p.W708*|ARMC3_uc010qcw.2_Nonsense_Mutation_p.W452* NM_173081 NP_775104 Q5W041 ARMC3_HUMAN Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA. 715 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACAAAGAATGGTGTCCTCCCT 0.403000 5 31 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54866919 54866919 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:54866919G>A uc002qfk.1 - 9 1132 c.822C>T c.(820-822)ccC>ccT p.P274P LAIR1_uc002qfl.1_Silent_p.P257P|LAIR1_uc002qfm.1_Silent_p.P273P|LAIR1_uc002qfn.1_Silent_p.P256P|LAIR1_uc010yex.2_Silent_p.P267P|LAIR1_uc002qfo.3_Silent_p.P256P NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 274 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACTCGGCCATGGGCTTTGTGG 0.607000 59 61 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2591227 2591227 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:2591227G>A uc002wgf.1 + 11 1591 c.1576G>A c.(1576-1578)Gat>Aat p.D526N TMC2_uc002wgg.1_Missense_Mutation_p.D510N|TMC2_uc010zpw.1_Missense_Mutation_p.D358N|TMC2_uc010zpx.1_Missense_Mutation_p.D357N NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 526 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 GGCCCTGATGGATGACGTCCA 0.468000 34 12 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30762175 30762176 + Missense_Mutation DNP TC GA GA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:30762175_30762176TC>GA uc011aku.2 + 2 846_847 c.186_187TC>GA c.(184-189)gttccg>gtGAcg p.P63T CCDC157_uc011akv.2_Missense_Mutation_p.P63T NM_001017437 NP_001017437 Q569K6 CC157_HUMAN Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA. 63 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 ATGACCATGTTCCGGGTGACCC 0.639000 140 25 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381564 81381564 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:81381564C>T uc003uhl.3 - 4 662 c.497G>A c.(496-498)aGc>aAc p.S166N HGF_uc003uhm.3_Splice_Site_p.S161_splice|HGF_uc003uhn.1_Missense_Mutation_p.S166N|HGF_uc003uho.1_Splice_Site_p.S161_splice|HGF_uc003uhp.3_Missense_Mutation_p.S166N NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 166 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.S166I(2) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ACCCCGATAGCTCGAAGGCAA 0.393000 46 16 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844396 28844396 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:28844396C>T uc002dqy.3 + 13 1843 c.1676C>T c.(1675-1677)tCc>tTc p.S559F NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.S535F|ATXN2L_uc002dqz.3_Missense_Mutation_p.S559F|ATXN2L_uc002dra.3_Missense_Mutation_p.S559F|ATXN2L_uc002drb.3_Missense_Mutation_p.S559F|ATXN2L_uc002drc.3_Missense_Mutation_p.S559F|ATXN2L_uc010vdb.2_Missense_Mutation_p.S565F|ATXN2L_uc002dre.3_Missense_Mutation_p.S559F|ATXN2L_uc002drf.3_5'UTR|ATXN2L_uc002drg.3_5'Flank NM_148414 NP_680780 Q8WWM7 ATX2L_HUMAN Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA. 559 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCCAGTAGCTCCCCTGAGAAC 0.502000 109 62 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470894 79470894 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:79470894G>A uc001diq.4 - 1 189 c.33C>T c.(31-33)tcC>tcT p.S11S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 11 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.S11F(1) 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) TCAACAAAGTGGAAAAAACCA 0.318000 4 31 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78919109 78919109 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:78919109G>A uc010jae.1 + 4 680 c.262G>A c.(262-264)Ggt>Agt p.G88S PAPD4_uc003kgb.2_Missense_Mutation_p.G88S|PAPD4_uc010jaf.1_Missense_Mutation_p.G88S|PAPD4_uc003kga.2_Missense_Mutation_p.G88S|PAPD4_uc003kfz.2_Missense_Mutation_p.G88S NM_001114393 NP_776158 Q6PIY7 GLD2_HUMAN Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA. 88 RNA polyadenylation|histone mRNA catabolic process|mRNA processing cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity p.G88N(2) biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TCCTCTTGACGGTAAACGGCA 0.373000 91 21 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113306308 113306309 + Missense_Mutation DNP AG CA CA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:113306308_113306309AG>CA uc010syl.2 + 7 880_881 c.518_519AG>CA c.(517-519)aag>aCA p.K173T RPH3A_uc001ttz.3_Missense_Mutation_p.K173T|RPH3A_uc001tty.3_Missense_Mutation_p.K169T|RPH3A_uc009zwe.1_Missense_Mutation_p.K169T|RPH3A_uc010sym.2_Missense_Mutation_p.K124T|RPH3A_uc001tua.3_5'UTR NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 173 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) ATGCCTATAAAGAAGACCAAGC 0.594000 18 13 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22700094 22700094 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:22700094G>A uc001iri.3 + 9 1616 c.1449G>A c.(1447-1449)gaG>gaA p.E483E SPAG6_uc010qct.2_Silent_p.E458E|SPAG6_uc009xkh.3_Silent_p.E461E|SPAG6_uc001irj.3_Intron|SPAG6_uc021poe.1_Silent_p.E209E NM_012443 NP_036575 O75602 SPAG6_HUMAN Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA. 483 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding p.P482P(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 GTTACCCCGAGGAAATAGTGA 0.358000 3 17 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101315308 101315308 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:101315308G>A uc001vot.3 - 4 775 c.462C>T c.(460-462)taC>taT p.Y154Y TMTC4_uc001vou.3_Silent_p.Y135Y|TMTC4_uc010tja.2_Intron NM_032813 NP_001073137 Q5T4D3 TMTC4_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA. 135 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) CTTTACTGGTGTACTGCAGGC 0.617000 200 50 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22057033 22057033 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:22057033C>T uc002kvi.3 + 2 780 c.680C>T c.(679-681)tCa>tTa p.S227L HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S139L NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA. 227 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TGTGGACACTCATTCAGAGGT 0.453000 33 87 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62132152 62132152 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 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 0 10 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638995 55638995 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:55638995T>C uc003pcq.3 - 3 1591 c.879A>G c.(877-879)ggA>ggG p.G293G BMP5_uc011dxf.2_Silent_p.G293G NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 293 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGACTGAGGTCCCTGTCTTC 0.433000 62 40 0 0 1 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651823 128651823 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:128651823C>T uc003ifl.3 + 0 269 c.123C>T c.(121-123)atC>atT p.I41I NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 41 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 TGGCGCCCATCGAGCGGGTGA 0.642000 36 33 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980432 121980432 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:121980432C>T uc003eew.4 + 3 988 c.550C>T c.(550-552)Ctc>Ttc p.L184F CASR_uc003eev.4_Missense_Mutation_p.L184F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 184 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 p.F183Y(1) 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) CAAGTCTTTCCTCCGAACCAT 0.507000 114 30 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159462430 159462430 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:159462430C>T uc003qrz.3 - 5 765 c.433G>A c.(433-435)Gat>Aat p.D145N TAGAP_uc011eft.2_Missense_Mutation_p.D82N|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.D145N NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 145 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTCTCCAGATCCACCGCATCC 0.552000 21 17 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28459718 28459718 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:28459718C>T uc001riq.3 + 3 325 c.311C>T c.(310-312)cCa>cTa p.P104L CCDC91_uc001rio.3_Missense_Mutation_p.P74L|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.P104L|CCDC91_uc009zjl.3_5'UTR NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA. 104 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TCACTTTTTCCATTGGGTTTA 0.348000 33 12 0 0 1 0 0 XKRX 402415 broad.mit.edu 37 X 100169977 100169977 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:100169977G>A uc004egn.2 - 2 1305 c.700C>T c.(700-702)Cgc>Tgc p.R234C XKRX_uc011mre.1_Missense_Mutation_p.R30C NM_212559 NP_997724 Q6PP77 XKR2_HUMAN Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA. 234 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 GGCCCAAGGCGAATCTTGTAG 0.483000 6 53 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203083 56203083 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:56203083C>T uc002lhj.4 - 4 4550 c.4336G>A c.(4336-4338)Gaa>Aaa p.E1446K ALPK2_uc002lhk.1_Missense_Mutation_p.E777K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1446 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGCTGGATTTCCGCTTCGTGG 0.527000 21 51 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22471696 22471696 + Nonsense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:22471696T>G uc001wct.4 + 1 224 c.119T>G c.(118-120)tTa>tGa p.L40* TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_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_uc010tmm.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336. GCTCTGACATTAAACTGCACT 0.443000 18 28 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67226103 67226104 + Missense_Mutation DNP GT AG AG TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:67226103_67226104GT>AG uc001olo.3 + 5 878_879 c.801_802GT>AG c.(799-804)gagttt>gaAGtt p.F268V CABP4_uc001oln.3_Missense_Mutation_p.F163V NM_145200 NP_660201 P57796 CABP4_HUMAN Homo sapiens calcium binding protein 4 (CABP4), mRNA. 268 EF-hand 4. visual perception cytoplasm|extracellular region|terminal button calcium ion binding p.E267K(1) central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTCCCGCAGAGTTTGTGATGAT 0.653000 16 33 0 0 1 0 0 LOC200726 200726 broad.mit.edu 37 2 207509337 207509337 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:207509337C>T uc010fuh.1 + 1 552 c.377C>T c.(376-378)tCa>tTa p.S126L NM_001102659 NP_001096129 Homo sapiens hCG1657980 (LOC200726), mRNA. LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) GAGAAAATCTCAGCAGCGCAG 0.488000 6 7 0 0 1 0 0 ATP5EP2 432369 broad.mit.edu 37 13 28519450 28519450 + RNA SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:28519450C>T uc001uru.3 + 0 c.108C>T Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA. ovary(1) 1 ACTCCCAGATCTGTGCAAAAG 0.483000 7 9 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41621392 41621392 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:41621392G>A uc003gvz.4 + 5 810 c.393G>A c.(391-393)gaG>gaA p.E131E LIMCH1_uc003gvt.1_Silent_p.E131E|LIMCH1_uc003gwe.4_Silent_p.E290E|LIMCH1_uc003gvu.4_Silent_p.E290E|LIMCH1_uc003gvv.4_Silent_p.E290E|LIMCH1_uc003gvw.4_Silent_p.E290E|LIMCH1_uc003gvx.4_Silent_p.E290E|LIMCH1_uc003gvy.4_Silent_p.E131E|LIMCH1_uc003gwa.4_Silent_p.E131E|LIMCH1_uc011byu.2_Silent_p.E136E|LIMCH1_uc003gwc.4_Silent_p.E136E|LIMCH1_uc003gwd.4_Silent_p.E136E|LIMCH1_uc011byv.2_Silent_p.E41E|LIMCH1_uc003gwb.1_Silent_p.E138E NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 290 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AGAAAGCAGAGAGAGAGGAAT 0.582000 48 30 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41172415 41172415 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:41172415C>T uc003jmk.2 - 8 1413 c.1203G>A c.(1201-1203)agG>agA p.R401R C6_uc003jml.1_Silent_p.R401R NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 401 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding 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) TTGTTTCAATCCTGACACAGT 0.408000 37 41 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282086 168282086 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:168282086A>G uc001gfl.3 + 7 1244 c.1193A>G c.(1192-1194)cAa>cGa p.Q398R TBX19_uc001gfj.4_Missense_Mutation_p.Q266R|TBX19_uc001gfm.3_Missense_Mutation_p.Q101R NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 398 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CTCTCCACCCAAGCACCCACT 0.657000 8 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085237 9085237 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9085237G>A uc002mkp.3 - 0 6782 c.6578C>T c.(6577-6579)tCc>tTc p.S2193F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2193 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 CATTCTAAAGGAAACCAAAGA 0.468000 14 16 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372986 24372986 + Silent SNP C T T rs148951012 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:24372986C>T uc002dmf.3 + 3 1952 c.750C>T c.(748-750)atC>atT p.I250I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 250 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TGTCCCCCATCAGCAAAGGCT 0.587000 33 49 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769748 112769748 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:112769748G>A uc003kqm.2 - 0 981 c.789C>T c.(787-789)atC>atT p.I263I MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 263 Protein kinase. 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) GGATCTCGTCGATGTGGAGCC 0.622000 79 14 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51910917 51910917 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:51910917G>A uc003pah.1 - 23 2753 c.2477C>T c.(2476-2478)tCc>tTc p.S826F PKHD1_uc003pai.3_Missense_Mutation_p.S826F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 826 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGGTACCTGGATGTGAAGTC 0.458000 81 49 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65392291 65392291 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:65392291G>A uc011moz.2 + 2 561 c.424G>A c.(424-426)Gat>Aat p.D142N HEPH_uc004dwn.3_Missense_Mutation_p.D91N|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.D91N|HEPH_uc011mpa.2_Missense_Mutation_p.D91N NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 88 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.P142>?(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTCATACACAGATGAAGTGGC 0.498000 2 14 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36465643 36465643 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:36465643C>T uc003tff.3 + 18 2972 c.2768C>T c.(2767-2769)tCa>tTa p.S923L ANLN_uc011kaz.2_Missense_Mutation_p.S835L|ANLN_uc003tfg.3_Missense_Mutation_p.S886L|ANLN_uc010kxe.3_Missense_Mutation_p.S885L NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 923 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 ATTCATTCTTCAGGTGAGTGT 0.269000 16 9 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91715573 91715573 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:91715573T>C uc003ulg.3 + 36 9281 c.9056T>C c.(9055-9057)tTc>tCc p.F3019S AKAP9_uc003ulf.3_Missense_Mutation_p.F3011S|AKAP9_uc003uli.3_Missense_Mutation_p.F2642S|AKAP9_uc003ulj.3_Missense_Mutation_p.F789S|AKAP9_uc003ulk.3_Missense_Mutation_p.F294S NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 3023 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CATGAGAGCTTCTCAGACTGG 0.368000 T BRAF papillary thyroid 88 60 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1682273 1682273 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:1682273A>G uc010uvh.2 + 2 601 c.601A>G c.(601-603)Aag>Gag p.K201E CRAMP1L_uc002cmf.3_Non-coding_Transcript NM_020825 NP_065876 Q96RY5 CRML_HUMAN Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA. 201 SANT. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GAAGAAAGGCAAGCCAGCAAG 0.448000 3 3 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30924625 30924625 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:30924625C>T uc003xio.4 + 5 1369 c.581C>T c.(580-582)tCt>tTt p.S194F NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 194 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAAGACAAGTCTATCCGCTGT 0.413000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 22 13 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22318312 22318312 + Missense_Mutation SNP G C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:22318312G>C uc002zvs.3 - 10 1622 c.1187C>G c.(1186-1188)gCc>gGc p.A396G TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.A396G|TOP3B_uc010gtl.3_Missense_Mutation_p.A396G NM_003935 NP_003926 O95985 TOP3B_HUMAN Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA. 396 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GGCCTCTGTGGCAGACTTCAT 0.612000 110 7 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204576 9204576 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9204576C>T uc010xkj.2 + 0 656 c.656C>T c.(655-657)gCt>gTt p.A219V NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCCTCCTATGCTCGCATCCTT 0.557000 65 43 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176631248 176631248 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:176631248C>T uc003mfr.4 + 3 1329 c.1191C>T c.(1189-1191)gtC>gtT p.V397V NSD1_uc003mft.4_Silent_p.V128V|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.2_Silent_p.V45V|NSD1_uc003mfp.2_Silent_p.V397V NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 397 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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;0.198) Kidney(146;0.235) AGCTACCTGTCCTTAGGAGAA 0.423000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 102 28 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42992842 42992842 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:42992842C>T uc003otp.1 + 1 258 c.250C>T c.(250-252)Caa>Taa p.Q84* NM_033112 NP_149103 Q96EU6 RRP36_HUMAN Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA. 84 rRNA processing|ribosomal small subunit biogenesis nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 ACCACCTATCCAAAATGCATG 0.453000 40 21 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781866 96781866 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:96781866G>A uc021vlh.1 - 0 23 c.23C>T c.(22-24)tCc>tTc p.S8F NM_000682 NP_000673 P18089 ADA2B_HUMAN Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA. 8 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGCCTGCACGGAGTAGGGGTC 0.672000 11 5 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54385799 54385799 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:54385799C>T uc002qcq.1 + 0 333 c.51C>T c.(49-51)ccC>ccT p.P17P PRKCG_uc010eqz.1_Silent_p.P17P|PRKCG_uc010yef.1_Silent_p.P17P|PRKCG_uc010yeg.1_Silent_p.P17P|PRKCG_uc010yeh.1_5'Flank NM_002739 NP_002730 P05129 KPCG_HUMAN Homo sapiens protein kinase C, gamma (PRKCG), mRNA. 17 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GACCCCGGCCCCTGTTTTGCA 0.627000 68 66 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665887 665887 + Silent SNP C T T rs139340276 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:665887C>T uc001qii.1 + 14 2235 c.2235C>T c.(2233-2235)gtC>gtT p.V745V B4GALNT3_uc001qik.1_Silent_p.V294V NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 745 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGGAGGAGGTCGAGGCCCGGA 0.637000 5 7 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212251872 212251872 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:212251872G>A uc002veg.1 - 26 3285 c.3187C>T c.(3187-3189)Cag>Tag p.Q1063* ERBB4_uc002veh.1_Nonsense_Mutation_p.Q1047*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q1053*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q1037* NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1063 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TATACAAACTGGTTCTGTTAA 0.428000 TSP Lung(8;0.080) 71 23 0 0 1 0 0 GPR55 9290 broad.mit.edu 37 2 231774939 231774939 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:231774939A>G uc021vxz.1 - 0 739 c.739T>C c.(739-741)Ttc>Ctc p.F247L GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.F247L|GPR55_uc010fxs.1_Missense_Mutation_p.F247L NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA. 247 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AACTGCAGGAAGAACCCCAGG 0.542000 54 15 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40424009 40424010 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:40424009_40424010CC>TT uc002omp.4 - 3 2201_2202 c.2193_2194GG>AA c.(2191-2196)tcggtt>tcAAtt p.V732I NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 732 V -> A (in dbSNP:rs34181317). 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) CAGTCCCCAACCGAGATGCCAA 0.614000 34 26 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279277 16279277 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:16279277C>T uc010gqp.2 - 3 998 c.946G>A c.(946-948)Ggt>Agt p.G316S POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G35S|POTEH_uc002zlj.1_Missense_Mutation_p.G151S NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 316 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCATGTACACCAAGTAACAGT 0.318000 202 43 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112031527 112031527 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:112031527G>A uc001ebf.3 - 2 1344 c.577C>T c.(577-579)Cgt>Tgt p.R193C ADORA3_uc001ebg.4_Missense_Mutation_p.R112C NM_020683 NP_065734 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA. 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) CAGTAGTCACGGAAATAGCCT 0.517000 1 67 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786854 121786854 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:121786854C>T uc003ksw.1 + 9 2518 c.2312C>T c.(2311-2313)cCa>cTa p.P771L SNCAIP_uc011cwl.1_Missense_Mutation_p.P329L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P405L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P818L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P405L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P367L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P405L|SNCAIP_uc003kta.1_Missense_Mutation_p.P403L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P465L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P711L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P287L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 771 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGTATTCCTCCAAACCAGCCC 0.572000 3 16 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792954 44792954 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:44792954G>A uc002oza.4 - 4 737 c.634C>T c.(634-636)Cca>Tca p.P212S ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P208S NM_004234 NP_004225 Q14590 ZN235_HUMAN Homo sapiens zinc finger protein 235 (ZNF235), mRNA. 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TCAACATATGGAGCAAATATA 0.323000 25 28 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905644 54905644 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:54905644G>A uc003dhf.3 + 17 1753 c.1705G>A c.(1705-1707)Gac>Aac p.D569N CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D475N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D303N NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 569 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGACCGAGATGACGTGGTAAG 0.507000 47 12 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515514 51515514 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:51515514A>C uc010ric.2 + 0 233 c.233A>C c.(232-234)aAc>aCc p.N78T NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AATACCCCTAACCTGATCACA 0.493000 113 34 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2376021 2376021 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:2376021G>A uc002cpy.1 - 4 1021 c.309C>T c.(307-309)atC>atT p.I103I ABCA3_uc010bsk.1_Silent_p.I103I|ABCA3_uc010bsl.1_Silent_p.I103I|ABCA3_uc002cpz.1_Silent_p.I103I NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 103 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTCGCATGTTGATCACAAGTG 0.642000 29 31 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349681 90349681 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:90349681G>A uc002bop.4 - 1 426 c.134C>T c.(133-135)cCc>cTc p.P45L NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 45 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGAGGCCACGGGGGAGCTGTT 0.632000 103 86 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31710154 31710154 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:31710154C>T uc021wuu.1 - 9 2747 c.2076G>A c.(2074-2076)aaG>aaA p.K692K OSBPL10_uc003ceu.1_Silent_p.K449K|OSBPL10_uc011axf.2_Silent_p.K628K NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA. 692 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) TGGGTCCCTGCTTCTCAAGAG 0.498000 23 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413949 179413949 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:179413949C>T uc021vsy.1 - 287 84925 c.84700G>A c.(84700-84702)Gga>Aga p.G28234R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21929R|TTN_uc021vta.1_Missense_Mutation_p.G21862R|TTN_uc021vtb.1_Missense_Mutation_p.G21737R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29161 Ig-like 131. 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) GGTCCAACTCCTGCAGCATTT 0.458000 17 16 0 0 1 0 0 LOC728989 728989 broad.mit.edu 37 1 146496469 146496470 + Missense_Mutation DNP GG AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:146496469_146496470GG>AA uc001epd.2 - 1 104_105 c.30_31CC>TT c.(28-33)tcccct>tcTTct p.P11S Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA. CGGACTGGAGGGGACACAGCAG 0.530000 5 50 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78189114 78189114 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:78189114G>A uc001dht.3 - 12 1731 c.1384C>T c.(1384-1386)Cca>Tca p.P462S USP33_uc001dhs.3_Missense_Mutation_p.P183S|USP33_uc001dhu.3_Missense_Mutation_p.P431S|USP33_uc001dhv.3_Missense_Mutation_p.P267S|USP33_uc001dhw.3_Missense_Mutation_p.P462S NM_015017 NP_963918 Q8TEY7 UBP33_HUMAN Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA. 462 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process VCB complex|perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.S461P(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TTTCTCTTTGGAGATGCAGAC 0.338000 4 22 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145757761 145757761 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:145757761C>T uc003zds.1 - 10 3463 c.2908G>A c.(2908-2910)Gag>Aag p.E970K ARHGAP39_uc011llk.1_Missense_Mutation_p.E939K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E939K NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 939 Rho-GAP. 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 GCATTCACCTCGTCAATGTCC 0.642000 38 25 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013148 73013148 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:73013148G>A uc003hgg.2 + 3 1286 c.1188G>A c.(1186-1188)atG>atA p.M396I NPFFR2_uc010iig.2_Missense_Mutation_p.M178I|NPFFR2_uc003hgi.2_Missense_Mutation_p.M297I|NPFFR2_uc003hgh.2_Missense_Mutation_p.M294I NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 396 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GGACTCTAATGATGCTCTCAG 0.488000 49 40 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159650965 159650965 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:159650965C>T uc010kjv.3 + 9 1499 c.1299C>T c.(1297-1299)ttC>ttT p.F433F FNDC1_uc010kjw.1_Intron NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 433 Fibronectin type-III 4. extracellular region p.F433F(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCTATCTTTTCAAAATCCGGG 0.527000 64 108 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176717 41176717 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:41176717T>A uc003jmk.2 - 7 1238 c.1028A>T c.(1027-1029)aAc>aTc p.N343I C6_uc003jml.1_Missense_Mutation_p.N343I|RN7SK_uc021xxu.1_5'Flank NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 343 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding 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) AGGCAGATGGTTAAGTGCTTT 0.408000 86 48 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 301559 301559 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:301559G>A uc004cpg.3 - 9 1556 c.1292C>T c.(1291-1293)gCc>gTc p.A431V PPP2R3B_uc004cpf.3_Missense_Mutation_p.A32V NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 431 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) GAAGGGCAGGGCCTCGATGGC 0.652000 15 21 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319518 31319518 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:31319518C>T uc010dmg.1 + 10 2205 c.2150C>T c.(2149-2151)tCa>tTa p.S717L ASXL3_uc002kxq.2_Missense_Mutation_p.S424L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 717 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCAGAAACCTCACCGATGTCT 0.408000 83 198 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227621 38227621 + Silent SNP G A A rs138523815 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:38227621G>A uc009vvi.3 - 2 392 c.306C>T c.(304-306)ttC>ttT p.F102F EPHA10_uc001cbw.4_Silent_p.F102F NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 102 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCAGTTCCACGAAGATGCGCT 0.612000 12 143 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24906726 24906726 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:24906726T>A uc003aaf.3 + 3 1669 c.374T>A c.(373-375)tTt>tAt p.F125Y UPB1_uc003aae.3_Missense_Mutation_p.F57Y NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 125 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCTATGCCCTTTGCCTTCTGT 0.512000 59 29 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50338354 50338354 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:50338354G>A uc002egd.1 + 9 1720 c.1452G>A c.(1450-1452)atG>atA p.M484I ADCY7_uc002egb.1_Missense_Mutation_p.M484I|ADCY7_uc002egc.2_Missense_Mutation_p.M484I NM_001114 NP_001105 P51828 ADCY7_HUMAN Homo sapiens adenylate cyclase 7 (ADCY7), mRNA. 484 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CAGTGCGCATGACCCGGTACC 0.692000 48 34 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65294493 65294493 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:65294493C>T uc001oea.1 + 5 831 c.754C>T c.(754-756)Ccc>Tcc p.P252S SCYL1_uc009yqk.3_Missense_Mutation_p.P252S|SCYL1_uc001oeb.1_Missense_Mutation_p.P252S|SCYL1_uc001oec.1_Missense_Mutation_p.P252S NM_020680 NP_065731 Q96KG9 NTKL_HUMAN Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA. 252 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 CAAGGTGCGTCCCAACCCAGC 0.602000 19 32 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55362762 55362762 + Missense_Mutation SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:55362762T>C uc002lgw.3 - 8 821 c.701A>G c.(700-702)gAa>gGa p.E234G LOC100505549_uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA. 234 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E234*(1) breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TAAATTGGTTTCTCTAAAGGA 0.328000 10 19 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599171 136599171 + Missense_Mutation SNP C T T rs145724464 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:136599171C>T uc003qgx.1 - 3 1101 c.848G>A c.(847-849)cGa>cAa p.R283Q BCLAF1_uc003qgy.1_Missense_Mutation_p.R281Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R281Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R283Q NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 283 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGGACTGTATCGACTAGATCC 0.443000 23 17 0 0 1 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442949 20442949 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:20442949C>T uc001bcz.3 - 1 79 c.62G>A c.(61-63)gGg>gAg p.G21E PLA2G2D_uc009vpo.3_Non-coding_Transcript NM_012400 NP_036532 Q9UNK4 PA2GD_HUMAN Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA. 21 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTTCAGGATCCCGCCCTGGAT 0.577000 Multiple Myeloma(11;0.12) 3 49 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39245958 39245958 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:39245958C>T uc003gtv.3 + 21 2666 c.2512C>T c.(2512-2514)Ccc>Tcc p.P838S WDR19_uc011byi.2_Missense_Mutation_p.P678S|WDR19_uc003gtw.1_Missense_Mutation_p.P435S NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 838 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CCTCAAGCATCCCAGCAGGGT 0.453000 59 28 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24109098 24109098 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:24109098G>A uc001wkt.4 + 3 861 c.414G>A c.(412-414)tgG>tgA p.W138* DHRS2_uc010aku.1_Nonsense_Mutation_p.W138*|DHRS2_uc001wku.4_Nonsense_Mutation_p.W138*|DHRS2_uc010akv.3_Non-coding_Transcript NM_182908 NP_878912 Q13268 DHRS2_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA. 116 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) AGCAGATCTGGGACAAGGTGA 0.657000 23 7 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510297 41510297 + Missense_Mutation SNP G A A rs117323987 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:41510297G>A uc002opr.1 + 2 437 c.430G>A c.(430-432)Gag>Aag p.E144K CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E104K NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 144 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GAGTGTGGAGGAGCGGATTCA 0.527000 23 9 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103890 53103890 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:53103890G>A uc003tpz.3 + 0 542 c.526G>A c.(526-528)Gag>Aag p.E176K NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 176 p.R175W(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTGCACCCGGGAGACTCTGCT 0.711000 13 27 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884123 228884123 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:228884123G>A uc002vpq.2 - 6 1494 c.1447C>T c.(1447-1449)Ctc>Ttc p.L483F SPHKAP_uc002vpp.2_Missense_Mutation_p.L483F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L483F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 483 L -> P (in Ref. 1; CAH18317). cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTCCAGAGAGGATGCTTGAG 0.537000 15 10 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397942 10397942 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:10397942C>T uc002gmo.3 - 37 5609 c.5515G>A c.(5515-5517)Gaa>Aaa p.E1839K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1839 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTGACAGCTTCAACATTGCGC 0.403000 5 52 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108235906 108235906 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:108235906C>G uc001pkb.1 + 61 9333 c.8948C>G c.(8947-8949)aCt>aGt p.T2983S ATM_uc009yxr.1_Missense_Mutation_p.T2983S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.T1635S NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2983 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTCACCCTACTCTGAATGCA 0.418000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 74 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088300 9088300 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9088300G>A uc002mkp.3 - 0 3719 c.3515C>T c.(3514-3516)tCa>tTa p.S1172L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1172 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 TCTCTGAGTTGAAAATGTGGA 0.478000 52 43 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43617285 43617285 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:43617285G>A uc003bdt.2 - 12 1570 c.1443C>T c.(1441-1443)acC>acT p.T481T NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 481 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TGATGGGGGTGGTGGGGGCAT 0.652000 50 25 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23890171 23890171 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:23890171A>C uc001wjx.3 - 25 3438 c.3332T>G c.(3331-3333)cTt>cGt p.L1111R MIR208B_uc021rqy.1_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1111 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCTCACCTGAAGCTCCTTGAG 0.572000 21 6 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13965710 13965710 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:13965710C>T uc003wwq.3 - 5 1242 c.582G>A c.(580-582)gaG>gaA p.E194E SGCZ_uc010lss.3_Silent_p.E147E NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 181 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGTGCGGCGTCTCCACAGAGT 0.458000 29 20 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31098880 31098880 + Missense_Mutation SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:31098880T>G uc002eaq.3 - 2 220 c.220A>C c.(220-222)Act>Cct p.T74P PRSS53_uc002ear.3_5'UTR NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN Homo sapiens protease, serine, 53 (PRSS53), mRNA. 74 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 TGGGCAGCAGTGAGGACCCAG 0.622000 9 7 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99139910 99139910 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:99139910C>T uc003yij.4 + 2 330 c.230C>T c.(229-231)tCc>tTc p.S77F POP1_uc011lgv.2_Missense_Mutation_p.S77F|POP1_uc003yik.3_Missense_Mutation_p.S77F NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 77 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAGTCTTCCTCCAAAGGGATG 0.493000 160 36 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31168701 31168701 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:31168701G>A uc002rns.3 - 7 1345 c.705C>T c.(703-705)atC>atT p.I235I GALNT14_uc002rnq.3_Silent_p.I210I|GALNT14_uc010ymr.2_Silent_p.I195I|GALNT14_uc002rnr.3_Silent_p.I230I|GALNT14_uc010ezo.2_Silent_p.I197I|GALNT14_uc010ezp.1_Intron NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 230 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CCAGGTTAATGATATCGATCA 0.547000 46 22 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958047 49958047 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:49958047C>T uc004dow.1 - 4 1441 c.1317G>A c.(1315-1317)aaG>aaA p.K439K AKAP4_uc004dou.1_Silent_p.K430K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.K261K NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 439 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) ACTTAGTCTCCTTCTCCTCAC 0.458000 4 52 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159655479 159655479 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:159655479C>T uc010kjv.3 + 10 4135 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F FNDC1_uc010kjw.1_Missense_Mutation_p.S1197F NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1312 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AACCCTCTCTCCCGACAGCCT 0.532000 25 12 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11606393 11606393 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:11606393G>A uc010hdx.1 - 2 779 c.373C>T c.(373-375)Cac>Tac p.H125Y VGLL4_uc003bwf.2_Missense_Mutation_p.H119Y|VGLL4_uc003bwg.2_Missense_Mutation_p.H124Y|VGLL4_uc010hdv.1_Missense_Mutation_p.H35Y|VGLL4_uc010hdw.1_Missense_Mutation_p.H39Y|VGLL4_uc011aun.1_Missense_Mutation_p.H60Y NM_001128219 NP_001121691 Q14135 VGLL4_HUMAN Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA. 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) GTGTACAGGTGGCTGCCGTGC 0.692000 24 5 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52539134 52539134 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:52539134C>T uc003dej.3 + 12 1567 c.1493C>T c.(1492-1494)cCc>cTc p.P498L STAB1_uc003dei.1_Missense_Mutation_p.P498L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 498 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGGCAGGCCCCCTCTGGGACC 0.612000 100 27 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77247092 77247092 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:77247092T>C uc003hkb.4 - 21 3228 c.3075A>G c.(3073-3075)ctA>ctG p.L1025L U7_uc021xpf.1_5'Flank NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 1025 Ser-rich. 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 CTGAACTAGTTAGGAGTGAGT 0.368000 68 89 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64882974 64882974 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:64882974G>A uc001ocv.3 + 6 1660 c.1063G>A c.(1063-1065)Ggg>Agg p.G355R TM7SF2_uc001oct.3_Missense_Mutation_p.G334R|TM7SF2_uc010rny.2_Missense_Mutation_p.G218R|TM7SF2_uc001ocu.3_Missense_Mutation_p.G307R|BC104003_uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA. 334 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TACAGCCACAGGGCGGAAACT 0.607000 47 9 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25281188 25281188 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:25281188G>A uc010aaa.3 + 15 2548 c.2215G>A c.(2215-2217)Gga>Aga p.G739R ATP12A_uc001upp.3_Missense_Mutation_p.G733R NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 733 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GACCGGGGATGGAGTTAATGA 0.557000 8 21 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71690233 71690233 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:71690233G>A uc001jql.3 + 28 2111 c.1575G>A c.(1573-1575)gtG>gtA p.V525V COL13A1_uc021prz.1_Silent_p.V503V|COL13A1_uc021psa.1_Silent_p.V468V|COL13A1_uc021psb.1_Silent_p.V474V|COL13A1_uc001jqk.2_Silent_p.V503V|COL13A1_uc021psc.1_Silent_p.V506V|COL13A1_uc021psd.1_Silent_p.V503V|COL13A1_uc010qjf.2_Silent_p.V468V|COL13A1_uc021pse.1_Silent_p.V474V|COL13A1_uc021psf.1_Silent_p.V525V|COL13A1_uc021psg.1_Silent_p.V503V|COL13A1_uc021psh.1_Silent_p.V506V NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 525 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCCAGGAGTGAAGGGAGAAA 0.602000 3 11 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904856 73904856 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:73904856G>A uc011dyh.2 + 14 2922 c.2575G>A c.(2575-2577)Gag>Aag p.E859K KCNQ5_uc011dyi.2_Missense_Mutation_p.E850K|KCNQ5_uc010kat.3_Missense_Mutation_p.E831K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E840K|KCNQ5_uc011dyj.2_Missense_Mutation_p.E730K|KCNQ5_uc011dyk.2_Missense_Mutation_p.E590K NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 840 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) CAGGTCGACCGAGGAACTGAA 0.463000 20 12 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427504 178427504 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:178427504C>T uc001glq.3 + 13 3841 c.3077C>T c.(3076-3078)cCa>cTa p.P1026L RASAL2_uc001glr.3_Missense_Mutation_p.P885L|RASAL2_uc009wxc.3_Missense_Mutation_p.P399L NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 885 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 GCCAAAGCCCCACCATCCCTG 0.587000 2 92 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782677 54782677 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:54782677G>A uc002qfb.3 - 5 1211 c.945C>T c.(943-945)atC>atT p.I315I LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I315I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I315I|LILRB2_uc010yet.2_Silent_p.I199I|LILRB2_uc010yeu.1_Non-coding_Transcript NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 315 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTGATCAGGATGTCCAGGG 0.652000 27 13 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867415 6867415 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:6867415C>T uc001met.1 + 0 502 c.502C>T c.(502-504)Cca>Tca p.P168S NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTTCAGTTTTCCATTCTGTGG 0.527000 34 68 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38840805 38840805 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:38840805C>T uc021yzh.1 + 50 7470 c.7361C>T c.(7360-7362)cCt>cTt p.P2454L DNAH8_uc003ooe.2_Missense_Mutation_p.P2237L 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 CCCATGGCCCCTAGTTGTAAG 0.473000 45 29 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76450739 76450739 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:76450739C>T uc010dhp.2 - 63 10344 c.10219G>A c.(10219-10221)Gat>Aat p.D3407N 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) TCCGCGTCATCTGTCAGCAGG 0.612000 7 42 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3342247 3342248 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:3342247_3342248CC>TT uc001akf.3 + 12 3124_3125 c.3042_3043CC>TT c.(3040-3045)aaccgc>aaTTgc p.R1015C PRDM16_uc001ake.3_Missense_Mutation_p.R1015C|PRDM16_uc009vlh.3_Missense_Mutation_p.R715C|PRDM16_uc001akc.3_Missense_Mutation_p.R1014C NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1015 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACCTGTGCAACCGCTGCTTCGG 0.624000 T EVI1 """MDS, AML""" 13 83 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141299408 141299408 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:141299408G>A uc002tvj.1 - 43 8299 c.7327C>T c.(7327-7329)Cgt>Tgt p.R2443C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2443 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L2442I(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATCGGAACGAAGAATTTTT 0.388000 TSP Lung(27;0.18) 34 35 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113567583 113567583 + Silent SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:113567583A>T uc003iaz.3 + 4 765 c.300A>T c.(298-300)gcA>gcT p.A100A LARP7_uc003iay.3_Silent_p.A93A|LARP7_uc003iba.3_Silent_p.A14A|LARP7_uc003ibb.3_Silent_p.A93A NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA. 93 HTH La-type RNA-binding. RNA processing nucleoplasm|ribonucleoprotein complex RNA binding|nucleotide binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TTGCCAGAGCATTGAGAAGTT 0.254000 19 29 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71798560 71798560 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:71798560T>A uc010cgg.3 - 7 1122 c.808A>T c.(808-810)Ata>Tta p.I270L AP1G1_uc021tkz.1_Missense_Mutation_p.I58L|AP1G1_uc002fbb.3_Missense_Mutation_p.I293L|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc021tky.1_Missense_Mutation_p.I273L NM_001128 NP_001119 O43747 AP1G1_HUMAN Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA. 270 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TGTGCTAATATATCATTCATA 0.318000 18 16 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25297576 25297576 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:25297576C>T uc001rgk.3 - 8 807 c.725G>A c.(724-726)gGa>gAa p.G242E CASC1_uc001rgj.3_Missense_Mutation_p.G196E|CASC1_uc001rgm.4_Missense_Mutation_p.G300E|CASC1_uc001rgl.3_Missense_Mutation_p.G236E|CASC1_uc010sje.2_Missense_Mutation_p.G177E|CASC1_uc010sjf.2_Missense_Mutation_p.G124E|CASC1_uc010sjg.1_Missense_Mutation_p.G236E NM_018272 NP_060742 Q6TDU7 CASC1_HUMAN Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA. 236 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) AATCTCAAATCCAATTTGTGT 0.378000 14 7 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34356466 34356466 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:34356466G>A uc001zhk.1 + 2 2218 c.1548G>A c.(1546-1548)aaG>aaA p.K516K CHRM5_uc001zhl.1_Silent_p.K516K|CHRM5_uc021sir.1_Silent_p.K516K NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 516 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GATGGAAAAAGAAAAAAGTGG 0.463000 23 26 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183710456 183710456 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:183710456G>A uc003ivd.1 + 23 5590 c.5515G>A c.(5515-5517)Gag>Aag p.E1839K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1839 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CACCACTAGCGAGAAAGTAGA 0.502000 14 17 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61939901 61939901 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:61939901C>T uc011aau.2 + 7 883 c.783C>T c.(781-783)gcC>gcT p.A261A COL20A1_uc011aav.2_Silent_p.A82A NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 261 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) AAGGCCTTGCCCTGACCCACG 0.652000 7 9 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166960489 166960489 + Splice_Site SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:166960489A>G uc003irh.2 + 10 1806 c.1159_splice c.e10-2 p.I387_splice TLL1_uc011cjn.2_Splice_Site_p.I387_splice|TLL1_uc011cjo.2_Splice_Site_p.I211_splice NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 387 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) TCCATTTTGCAGATTGTTTTA 0.363000 12 13 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73559842 73559842 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:73559842C>T uc002joh.3 + 8 990 c.836C>T c.(835-837)cCt>cTt p.P279L LLGL2_uc002jog.1_Missense_Mutation_p.P279L|LLGL2_uc010dgf.1_Missense_Mutation_p.P279L|LLGL2_uc002joi.3_Missense_Mutation_p.P279L|LLGL2_uc010dgg.2_Missense_Mutation_p.P279L|LLGL2_uc002joj.3_Missense_Mutation_p.P268L|LLGL2_uc010wsd.2_5'UTR|AF289551_uc002jok.3_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 279 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GGTCCCTTTCCTTGCAAAGCG 0.532000 8 38 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21245186 21245186 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:21245186G>A uc010bwp.1 + 0 171 c.128G>A c.(127-129)gGg>gAg p.G43E NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA. 43 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) GCCTACCATGGGAACTTGGAA 0.463000 58 53 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14958499 14958500 + Missense_Mutation DNP CC TA TA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:14958499_14958500CC>TA uc002dcv.3 + 12 1519_1520 c.1453_1454CC>TA c.(1453-1455)cct>TAt p.P485Y NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 485 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CCAGACATTTCCTCTTACTGTG 0.500000 311 96 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72388284 72388284 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:72388284C>T uc009zrw.1 + 7 1148 c.1007C>T c.(1006-1008)tCa>tTa p.S336L TPH2_uc001swy.2_Missense_Mutation_p.S246L NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 336 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GCTCAGTTTTCACAAGAAATA 0.408000 32 21 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961452 73961452 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:73961452C>T uc004eby.3 - 2 3557 c.2940G>A c.(2938-2940)caG>caA p.Q980Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 980 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGACTGGCCCCTGCTGGAAAG 0.443000 6 22 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58537757 58537758 + Missense_Mutation DNP CC TT TT TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:58537757_58537758CC>TT uc002enm.3 + 3 574_575 c.233_234CC>TT c.(232-234)ccc>cTT p.P78L NDRG4_uc002enk.3_Missense_Mutation_p.P58L|NDRG4_uc010vif.2_Missense_Mutation_p.P58L|NDRG4_uc002eno.3_Missense_Mutation_p.P26L|NDRG4_uc010cdk.3_Missense_Mutation_p.P26L|NDRG4_uc010vig.2_Missense_Mutation_p.P56L|NDRG4_uc010vih.2_5'UTR|NDRG4_uc010vii.2_Missense_Mutation_p.P44L|NDRG4_uc002enp.3_Missense_Mutation_p.P26L|NDRG4_uc002enq.1_5'Flank NM_001130487 NP_075061 Q9ULP0 NDRG4_HUMAN Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA. 26 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm p.C78F(1) breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 CGGGGCTCCCCCAAGGGGAACC 0.624000 37 18 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727871 35727871 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:35727871G>A uc003jjo.3 + 20 3120 c.3009G>A c.(3007-3009)caG>caA p.Q1003Q SPEF2_uc003jjp.1_Silent_p.Q489Q NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1003 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAGTGCCACAGCCACCTAAGC 0.428000 92 44 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735475 55735475 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55735475G>A uc010rit.2 - 0 465 c.465C>T c.(463-465)ttC>ttT p.F155F NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGGGCAAAAGGAAAATTTGGC 0.388000 34 6 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8049421 8049421 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:8049421G>A uc002gkd.3 - 16 2311 c.2073C>T c.(2071-2073)gcC>gcT p.A691A PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.A675A NM_002616 NP_002607 O15534 PER1_HUMAN Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA. 691 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCCGTGGGGTGGCCCCCTCCC 0.642000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 2 27 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206480365 206480365 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:206480365C>T uc002var.2 + 22 3653 c.3446C>T c.(3445-3447)cCc>cTc p.P1149L PARD3B_uc002vao.2_Missense_Mutation_p.P1048L|PARD3B_uc002vap.2_Missense_Mutation_p.P1087L|PARD3B_uc002vaq.2_Missense_Mutation_p.P1080L NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 1149 Poly-Pro. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCGCCAGCTCCCCAGCACAAA 0.627000 46 39 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745020 84745020 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:84745020G>A uc021pvc.1 + 9 1849 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K NRG3_uc010qlz.1_Missense_Mutation_p.E583K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E584K|NRG3_uc001kcp.2_Missense_Mutation_p.E387K|NRG3_uc001kcq.2_Missense_Mutation_p.E234K|NRG3_uc021pvd.1_Missense_Mutation_p.E363K|NRG3_uc021pve.1_Missense_Mutation_p.E388K|NRG3_uc021pvf.1_Missense_Mutation_p.E234K|NRG3_uc021pvg.1_Missense_Mutation_p.E412K|NRG3_uc021pvh.1_Missense_Mutation_p.E196K|NRG3_uc021pvi.1_Missense_Mutation_p.E414K|NRG3_uc021pvk.1_Missense_Mutation_p.E124K|NRG3_uc001kcr.2_Missense_Mutation_p.E258K|NRG3_uc021pvl.1_Missense_Mutation_p.E234K NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 608 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.E584*(1)|p.E387*(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GGGTTTAGAGGAAACCTGCCT 0.463000 9 51 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433356 40433356 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:40433356G>A uc002omp.4 - 1 921 c.913C>T c.(913-915)Ctc>Ttc p.L305F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 305 IgGFc-binding. 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) GACAGGTAGAGTGGCCAGGAT 0.562000 20 21 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610797 50610797 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:50610797G>A uc001csb.2 + 1 446 c.178G>A c.(178-180)Gaa>Aaa p.E60K ELAVL4_uc001cry.3_Missense_Mutation_p.E63K|ELAVL4_uc001crz.3_Missense_Mutation_p.E60K|ELAVL4_uc001csa.3_Missense_Mutation_p.E77K|ELAVL4_uc001csc.3_Missense_Mutation_p.E60K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E65K|ELAVL4_uc010omz.2_Missense_Mutation_p.E65K NM_021952 NP_068771 P26378 ELAV4_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA. 60 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TATGACCCAAGAAGAATTCAG 0.433000 5 121 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120150489 120150489 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:120150489G>A uc001txj.2 - 35 4647 c.4591C>T c.(4591-4593)Ccg>Tcg p.P1531S CIT_uc001txh.2_Missense_Mutation_p.P1008S|CIT_uc001txi.2_Missense_Mutation_p.P1489S NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1489 PH. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTTCCACCGGCCTCTGTCCA 0.512000 23 27 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756047 10756047 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:10756047C>T uc003wtk.1 - 2 1368 c.1341G>A c.(1339-1341)acG>acA p.T447T NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 447 integral to membrane p.T447T(2) 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) TCAAGACTATCGTATAATATG 0.473000 14 19 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858629 9858629 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:9858629G>A uc010uym.2 - 13 3082 c.2772C>T c.(2770-2772)ttC>ttT p.F924F GRIN2A_uc002czo.4_Silent_p.F924F|GRIN2A_uc010uyn.2_Silent_p.F767F|GRIN2A_uc002czr.4_Silent_p.F924F NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 924 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTCTTTGGATGAAGTCAGCAG 0.448000 146 74 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896841 175896841 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:175896841C>T uc003iuc.3 + 4 835 c.165C>T c.(163-165)atC>atT p.I55I ADAM29_uc003iud.3_Silent_p.I55I|ADAM29_uc010irr.3_Silent_p.I55I|ADAM29_uc011cki.2_Silent_p.I55I|ADAM29_uc021xuo.1_Silent_p.I55I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 55 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCTCCTATATCCTGCCCTTTG 0.512000 17 14 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126790295 126790295 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:126790295C>T uc003kuh.4 + 23 3380 c.3018C>T c.(3016-3018)tcC>tcT p.S1006S MEGF10_uc003kui.4_Silent_p.S1006S NM_032446 NP_115822 Q96KG7 MEG10_HUMAN Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA. 1006 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGGGAAAATCCTTAAAAGGTA 0.323000 3 20 0 0 1 0 0 ARMCX5-GPRASP2 100528062 broad.mit.edu 37 X 101972234 101972234 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:101972234C>T uc022cbh.1 + 0 2437 c.2437C>T c.(2437-2439)Cgt>Tgt p.R813C ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R813C NM_001199818 NP_001186747 Q96D09 GASP2_HUMAN Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA. 813 cytoplasm protein binding TTCTGCATTTCGTGAATTTGA 0.358000 10 78 0 0 1 0 0 RHOH 399 broad.mit.edu 37 4 40245097 40245097 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:40245097G>A uc003guz.2 + 2 815 c.91G>A c.(91-93)Gag>Aag p.E31K RHOH_uc021xnp.1_Missense_Mutation_p.E31K NM_004310 NP_004301 Q15669 RHOH_HUMAN Homo sapiens ras homolog gene family, member H (RHOH), mRNA. 31 T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GACCTTCCCGGAGGCCTACAA 0.597000 24 39 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922501 8922501 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:8922501G>A uc002mkn.1 - 5 895 c.665C>T c.(664-666)tCc>tTc p.S222F ZNF558_uc010xkh.1_Missense_Mutation_p.S151F|ZNF558_uc010dwg.1_Missense_Mutation_p.S222F NM_144693 NP_653294 Q96NG5 ZN558_HUMAN Homo sapiens zinc finger protein 558 (ZNF558), mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.S222F(2) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CAGTCTAAGGGATGAGGGATC 0.408000 19 16 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197755585 197755585 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:197755585G>A uc002utw.3 - 9 1254 c.1140C>T c.(1138-1140)atC>atT p.I380I PGAP1_uc002utx.3_Silent_p.I206I|PGAP1_uc002uty.1_Silent_p.I380I|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_3'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA. 380 C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 CATGAGTGTAGATTTTTCTAT 0.299000 17 13 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10077009 10077009 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:10077009G>A uc002mmq.1 - 63 4849 c.4763C>T c.(4762-4764)cCc>cTc p.P1588L NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1588 Fibrillar collagen NC1. 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) CTTCTTGTCGGGATAGAGGCA 0.592000 35 25 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24570193 24570193 + Silent SNP G A A rs138076041 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:24570193G>A uc011djo.2 - 11 2429 c.1929C>T c.(1927-1929)acC>acT p.T643T KIAA0319_uc011djp.2_Silent_p.T598T|KIAA0319_uc003neh.1_Silent_p.T643T|KIAA0319_uc011djq.1_Silent_p.T634T|KIAA0319_uc011djr.1_Silent_p.T643T|KIAA0319_uc010jpt.1_Silent_p.T54T NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 643 PKD 4. 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 TCCCATCCAGGGTAGCACTTT 0.522000 24 19 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3975931 3975931 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:3975931G>A uc002fxe.3 - 24 3869 c.3805C>T c.(3805-3807)Ccc>Tcc p.P1269S ZZEF1_uc002fxj.1_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1269 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGGTGAGTGGGCCAGCTTGCT 0.428000 2 33 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139741099 139741099 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:139741099C>T uc011meh.2 + 0 2233 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA. 745 endometrium(2)|large_intestine(1)|lung(6) 9 TGTCGGCTTCCTGTCGCGCGG 0.701000 0 24 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157414093 157414093 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:157414093C>T uc003wno.3 - 14 2426 c.2305G>A c.(2305-2307)Gag>Aag p.E769K PTPRN2_uc003wnp.3_Missense_Mutation_p.E752K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E740K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E731K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E792K NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 769 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGCACGTTCTCCTCCCTCTGG 0.657000 233 120 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85892791 85892791 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:85892791C>T uc002sqj.3 - 5 656 c.556G>A c.(556-558)Gac>Aac p.D186N SFTPB_uc002sqi.3_Missense_Mutation_p.D186N|SFTPB_uc002sqh.3_Missense_Mutation_p.D186N NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 174 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACGAGCTTGTCCAGCAGAGGG 0.672000 77 54 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65123859 65123859 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:65123859C>T uc021qlj.1 + 0 580 c.580C>T c.(580-582)Caa>Taa p.Q194* TIGD3_uc001odo.4_Nonsense_Mutation_p.Q194* NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA. 194 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TGCATGTGATCAAGTACAGGT 0.592000 161 49 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890183 31890183 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:31890183C>T uc002wyw.1 + 9 1107 c.946C>T c.(946-948)Cgg>Tgg p.R316W BPIFB1_uc002wyx.1_5'Flank NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 316 extracellular space lipid binding p.R316W(1) GAGTGCCCATCGGCTGAAGTC 0.582000 74 69 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88417909 88417909 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:88417909C>T uc010qmk.1 + 3 671 c.444C>T c.(442-444)ctC>ctT p.L148L OPN4_uc001kdp.3_Silent_p.L148L|OPN4_uc001kdq.3_Silent_p.L137L|OPN4_uc009xsx.1_5'Flank NM_001030015 NP_001025186 Q9UHM6 OPN4_HUMAN Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA. 137 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 AGCAGTGGCTCTTTGGGGAGA 0.567000 4 25 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48368104 48368104 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:48368104C>T uc001rqu.3 - 52 4266 c.4085G>A c.(4084-4086)gGa>gAa p.G1362E COL2A1_uc001rqt.3_Missense_Mutation_p.G143E|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1293E NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 1362 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.G1293A(1)|p.G1362A(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ATTGTCATCTCCATAGCTGAA 0.572000 14 19 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25002056 25002056 + Silent SNP A T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:25002056A>T uc002wub.3 - 5 1157 c.1077T>A c.(1075-1077)ctT>ctA p.L359L ACSS1_uc002wuc.3_Silent_p.L359L|ACSS1_uc021wbm.1_Silent_p.L359L|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.L276L|ACSS1_uc021wbl.1_Silent_p.L238L|ACSS1_uc002wud.1_Non-coding_Transcript NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 359 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix AMP binding|ATP binding|acetate-CoA ligase activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCTCTCAAAAAGGACGCTGG 0.562000 54 26 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27145103 27145103 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:27145103G>A uc003xfl.1 - 5 1528 c.1446C>T c.(1444-1446)ccC>ccT p.P482P TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA. 482 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) TGATGTGCAAGGGGCAGATGC 0.622000 3 4 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350221 100350221 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:100350221C>T uc003uwj.3 + 13 2658 c.2493C>T c.(2491-2493)acC>acT p.T831T ZAN_uc003uwk.3_Silent_p.T831T|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. 831 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) AAACCACCACCTCTGTTGAAG 0.512000 97 45 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874347 36874347 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:36874347G>A uc003cgj.3 - 20 6843 c.6595C>T c.(6595-6597)Cct>Tct p.P2199S NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2199 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGATTTTAGGGAATACTTTT 0.403000 23 7 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230652368 230652368 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:230652368G>A uc002vpx.1 - 32 4876 c.4767C>T c.(4765-4767)ttC>ttT p.F1589F TRIP12_uc021vxw.1_Silent_p.F1574F|TRIP12_uc002vpy.1_Silent_p.F1271F|TRIP12_uc002vpw.1_Silent_p.F1541F NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1541 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) CAAAAGGAAAGAAAAATGGGC 0.333000 8 16 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538668 4538668 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:4538668C>T uc002mau.3 - 1 339 c.328G>A c.(328-330)Gaa>Aaa p.E110K PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 110 extracellular region|membrane p.P109P(1) NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CGCAGGAATTCGGGCGAGAGG 0.637000 18 20 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359247 64359247 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:64359247G>A uc001oam.1 + 0 966 c.219G>A c.(217-219)ctG>ctA p.L73L SLC22A12_uc009ypr.1_Silent_p.L73L|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.L73L|SLC22A12_uc001oan.1_Silent_p.L73L|SLC22A12_uc009ypt.3_5'Flank NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 73 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 AGGCCCTCCTGGCTATTTCCA 0.692000 24 29 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52677322 52677322 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:52677322G>A uc003des.2 - 8 949 c.937C>T c.(937-939)Cct>Tct p.P313S PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.P313S|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Missense_Mutation_p.P313S|PBRM1_uc003deu.2_Missense_Mutation_p.P313S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.P313S|PBRM1_uc010hmk.1_Missense_Mutation_p.P313S|PBRM1_uc003dey.2_Missense_Mutation_p.P313S|PBRM1_uc003dez.1_Missense_Mutation_p.P313S|PBRM1_uc003dfb.1_Missense_Mutation_p.P211S NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 313 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CTGTGTGAAGGACCTGTCAGT 0.443000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 39 51 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126408728 126408728 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:126408728C>T uc003ifj.4 + 15 13045 c.13045C>T c.(13045-13047)Cca>Tca p.P4349S FAT4_uc011cgp.2_Missense_Mutation_p.P2590S|FAT4_uc003ifi.1_Missense_Mutation_p.P1827S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4349 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGGAGGAATTCCACCCAATCA 0.378000 22 24 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44507907 44507907 + Nonsense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:44507907G>A uc002ruc.4 + 1 561 c.483G>A c.(481-483)tgG>tgA p.W161* SLC3A1_uc002rty.3_Nonsense_Mutation_p.W161*|SLC3A1_uc002rtz.2_Nonsense_Mutation_p.W161*|SLC3A1_uc002rua.3_Nonsense_Mutation_p.W161*|SLC3A1_uc002rub.2_Nonsense_Mutation_p.W161* NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 161 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AAACTGTTTGGATTACTTCAT 0.318000 23 21 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999379 27999379 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:27999379C>G uc004dbx.1 - 0 188 c.73G>C c.(73-75)Gag>Cag p.E25Q NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 25 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCAGACTGCTCCTCTGGGCTG 0.567000 3 18 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121147 12121147 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:12121147C>T uc003nac.3 + 3 1298 c.1119C>T c.(1117-1119)atC>atT p.I373I 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. 373 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) CCATGCCAATCTATAATTCAA 0.403000 113 54 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187880 152187880 + Silent SNP T G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152187880T>G uc001ezt.1 - 2 6301 c.6225A>C c.(6223-6225)tcA>tcC p.S2075S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2075 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGACTGCCTTGACCCAGACC 0.627000 23 231 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97339573 97339573 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:97339573C>T uc001tew.3 + 12 1924 c.1778C>T c.(1777-1779)tCc>tTc p.S593F NEDD1_uc001teu.4_Missense_Mutation_p.S586F|NEDD1_uc001tev.4_Missense_Mutation_p.S586F|NEDD1_uc010svc.2_Missense_Mutation_p.S497F|NEDD1_uc001tex.3_Missense_Mutation_p.S497F NM_001135175 NP_001128649 Q8NHV4 NEDD1_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA. 586 G2/M transition of mitotic cell cycle|cell division|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 CCATTGACTTCCATTCAAATT 0.388000 11 19 0 0 1 0 0 MYL9 10398 broad.mit.edu 37 20 35173263 35173263 + Splice_Site SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:35173263G>A uc002xfl.1 + 2 69 c.-25_splice c.e2-1 BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Splice_Site NM_006097 NP_006088 P24844 MYL9_HUMAN Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TTCCTGCAGGGAAGCCCCACC 0.612000 15 23 0 0 1 0 0 FST 10468 broad.mit.edu 37 5 52779351 52779351 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:52779351G>A uc003jpd.3 + 2 653 c.295G>A c.(295-297)Gac>Aac p.D99N FST_uc003jpc.3_Missense_Mutation_p.D99N NM_013409 NP_037541 P19883 FST_HUMAN Homo sapiens follistatin (FST), transcript variant FST344, mRNA. 99 Follistatin-like 1.|TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) TGAGAACGTGGACTGTGGACC 0.547000 44 20 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276950 152276950 + Missense_Mutation SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:152276950C>A uc001ezu.1 - 2 10448 c.10412G>T c.(10411-10413)gGa>gTa p.G3471V NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3471 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCAGACCTTCCCTGGGATGT 0.572000 Ichthyosis 34 585 0 0 1 1 0 OR8K5 219453 broad.mit.edu 37 11 55927275 55927275 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55927275G>A uc010rja.2 - 0 519 c.519C>T c.(517-519)gtC>gtT p.V173V NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AATGACTGATGACATTAGAGC 0.358000 22 35 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246948 80246948 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:80246948C>T uc003hlt.4 - 0 224 c.84G>A c.(82-84)atG>atA p.M28I NAA11_uc021xpl.1_Missense_Mutation_p.M28I NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA. 28 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 AATAGTATTTCATCTGGTAGT 0.493000 35 45 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947935 150947935 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:150947935G>A uc003lue.4 - 0 571 c.558C>T c.(556-558)gcC>gcT p.A186A FAT2_uc010jhx.1_Silent_p.A186A NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 186 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.A186A(2) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGTGTTAAAGGCATAATAGA 0.532000 234 40 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110217383 110217383 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:110217383C>T uc001dyi.3 + 7 896 c.582C>T c.(580-582)atC>atT p.I194I GSTM4_uc001dyj.3_Silent_p.I194I|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron NM_000848 NP_000839 Q03013 GSTM4_HUMAN Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA. 194 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TGGAGAAGATCTCTGCCTACA 0.577000 6 135 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136513031 136513031 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:136513031G>A uc004cel.3 + 5 1097 c.1088G>A c.(1087-1089)gGg>gAg p.G363E NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 363 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TTCAACGCGGGGATCATGGAG 0.602000 5 17 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 138011442 138011442 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:138011442C>T uc010nar.3 + 5 895 c.876C>T c.(874-876)caC>caT p.H292H OLFM1_uc004cfl.4_Silent_p.H274H|OLFM1_uc004cfn.4_Silent_p.H43H NM_014279 NP_055094 Q99784 NOE1_HUMAN Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA. 292 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TCACCTCCCACCGTCTCCCCC 0.532000 10 74 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95003157 95003157 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:95003157A>G uc004art.1 - 29 3521 c.3264T>C c.(3262-3264)tgT>tgC p.C1088C IARS_uc004ars.1_Silent_p.C933C|IARS_uc004aru.3_Silent_p.C1088C|IARS_uc010mqr.2_Silent_p.C978C|IARS_uc010mqt.2_Silent_p.C311C NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 1088 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TGCCATTTGCACAAATGTTAA 0.373000 2 21 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112944963 112944963 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:112944963G>A uc002tho.1 + 7 1471 c.1200G>A c.(1198-1200)caG>caA p.Q400Q FBLN7_uc010fki.1_Silent_p.Q354Q|FBLN7_uc010fkj.1_Silent_p.Q266Q NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA. 400 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCCTTGTGCAGAACCTGGAGG 0.612000 41 35 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798066 55798066 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55798066C>T uc010riw.2 + 0 172 c.172C>T c.(172-174)Ccc>Tcc p.P58S NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) CCTTCAAATTCCCATGTATTA 0.338000 38 9 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399660 10399660 + Silent SNP C T T rs146890530 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:10399660C>T uc002gmo.3 - 33 4957 c.4863G>A c.(4861-4863)aaG>aaA p.K1621K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1621 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTCCCTCCATCTTCTTCTTGA 0.502000 13 82 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121483463 121483463 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:121483463A>C uc001pxx.3 + 39 5470 c.5341A>C c.(5341-5343)Aac>Cac p.N1781H SORL1_uc010rzp.1_Missense_Mutation_p.N627H|SORL1_uc010rzq.1_Missense_Mutation_p.N396H NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1781 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTATGTGGTGAACCTTTTCTG 0.448000 26 8 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772659 118772659 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:118772659A>G uc001pug.3 - 5 2758 c.1793T>C c.(1792-1794)tTt>tCt p.F598S BCL9L_uc009zal.3_Missense_Mutation_p.F593S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 598 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) GGGCCCAGGAAAGGGAGGTCC 0.627000 3 9 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22036790 22036790 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:22036790C>T uc010gtj.1 + 7 568 c.452C>T c.(451-453)tCc>tTc p.S151F PPIL2_uc002zvh.4_Missense_Mutation_p.S151F|PPIL2_uc002zvi.4_Missense_Mutation_p.S151F|PPIL2_uc002zvg.4_Missense_Mutation_p.S151F|PPIL2_uc011aij.2_Missense_Mutation_p.S130F NM_148175 NP_680480 Q13356 PPIL2_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA. 151 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GAGCCCTTCTCCCGGCAGGAC 0.612000 21 23 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128332376 128332376 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:128332376G>A uc010sbs.1 - 7 1522 c.1206C>T c.(1204-1206)atC>atT p.I402I ETS1_uc001qej.2_Silent_p.I446I|ETS1_uc009zch.2_Silent_p.I186I|ETS1_uc009zcg.2_3'UTR NM_005238 NP_005229 P14921 ETS1_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA. 402 PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CTGTCTTGTGGATGATGTTTT 0.522000 39 18 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446835 226446835 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:226446835C>T uc002voe.2 + 3 877 c.702C>T c.(700-702)ccC>ccT p.P234P NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.P4P NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 234 TGGGCAGCCCCGCGGGAGACC 0.602000 63 48 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165398092 165398092 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:165398092C>T uc001gda.3 - 1 623 c.161G>A c.(160-162)cGg>cAg p.R54Q RXRG_uc021pea.1_5'UTR NM_006917 NP_008848 P48443 RXRG_HUMAN Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA. 54 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) ACTCAGAGTCCGTGGGGCACT 0.612000 6 63 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154624727 154624727 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:154624727C>T uc003inq.3 + 2 887 c.668C>T c.(667-669)tCc>tTc p.S223F TLR2_uc003inr.3_Missense_Mutation_p.S223F|TLR2_uc003ins.3_Missense_Mutation_p.S223F|TLR2_uc021xtl.1_Missense_Mutation_p.S223F NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 223 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding p.S223F(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GTTACAAGTTCCGTGGAATGT 0.343000 28 6 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509192 110509192 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:110509192G>A uc003yne.3 + 63 10476 c.10372G>A c.(10372-10374)Gga>Aga p.G3458R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3458 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGAAGCCCATGGAGGTTTATA 0.378000 HNSCC(38;0.096) 74 45 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52668714 52668714 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:52668714G>A uc002aby.2 - 18 2494 c.2250C>T c.(2248-2250)ttC>ttT p.F750F MYO5A_uc002abx.3_Silent_p.F750F|MYO5A_uc010uge.1_Silent_p.F619F NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 750 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GACCGGCACGGAAAAAGATCT 0.398000 20 19 0 0 1 0 0 CTAGE11P 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr13:75814354C>G uc010ths.2 - 0 164 c.123G>C c.(121-123)tgG>tgC p.W41C Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CCACCAGTTCCCATGGAAAAC 0.488000 29 4 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877985 200877985 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:200877985C>T uc001gvo.3 + 6 999 c.957C>T c.(955-957)gtC>gtT p.V319V C1orf106_uc010ppm.2_Silent_p.V234V NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 319 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GGGCTCCAGTCCAGAACAGCC 0.627000 9 124 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36106512 36106512 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:36106512C>T uc003ols.3 + 9 894 c.796C>T c.(796-798)Ccc>Tcc p.P266S MAPK13_uc003olt.3_Non-coding_Transcript NM_002754 NP_002745 O15264 MK13_HUMAN Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA. 266 Protein kinase. Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 GCCACAGACCCCCAGGAAGGA 0.612000 21 18 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25308672 25308672 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr22:25308672G>A uc003abg.2 + 22 3203 c.3046G>A c.(3046-3048)Gga>Aga p.G1016R SGSM1_uc010guu.1_Missense_Mutation_p.G961R|SGSM1_uc003abh.2_Missense_Mutation_p.G955R|SGSM1_uc003abj.2_Missense_Mutation_p.G900R|SGSM1_uc003abi.1_Missense_Mutation_p.G936R NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 1016 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTTCCCCCACGGAGGCGCCAT 0.512000 10 13 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197640835 197640835 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:197640835C>T uc002uts.3 - 12 1751 c.1594_splice c.e12-1 p.E532_splice GTF3C3_uc010zgu.2_Splice_Site_p.E503_splice NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA. 532 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AACTTCAGTTCCTAAACAAAT 0.308000 30 17 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151239724 151239724 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:151239724C>T uc001exl.3 + 9 1101 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S NM_002810 NP_002801 P55036 PSMD4_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA. 347 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction proteasome complex protein binding|zinc ion binding p.P347P(1) breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGGTGTGGATCCCAACAATGA 0.542000 4 146 0 0 1 0 0 CLPSL1 340204 broad.mit.edu 37 6 35755649 35755649 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:35755649C>T uc003old.4 + 2 285 c.228C>T c.(226-228)ttC>ttT p.F76F NM_001010886 NP_001010886 A2RUU4 CF127_HUMAN Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA. 76 digestion|lipid catabolic process extracellular region enzyme activator activity CCCAGGTGTTCTTTGGCCAAT 0.542000 129 23 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:41382221C>T uc003jmm.1 - 1 621 c.519G>A c.(517-519)gcG>gcA p.A173A NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAAAAATCGCTGGGCACA 0.428000 144 63 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186134267 186134267 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:186134267C>T uc001grq.1 + 97 15510 c.15281C>T c.(15280-15282)tCc>tTc p.S5094F MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.S663F NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 5094 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGTGCCCCTCCGGGTTTACC 0.413000 2 36 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350690 100350690 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:100350690G>A uc003uwj.3 + 13 3127 c.2962G>A c.(2962-2964)Gaa>Aaa p.E988K ZAN_uc003uwk.3_Missense_Mutation_p.E988K|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. 988 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) CATCCCCACAGAAAAACCCAC 0.572000 63 70 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119124871 119124871 + Splice_Site SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:119124871G>A uc004bjn.3 + 18 4729 c.4348_splice c.e18-1 p.G1450_splice PAPPA_uc011lxq.2_Splice_Site_p.G825_splice NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1450 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTTGTTCAGGGACTTGGGAG 0.473000 8 56 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026240 61026240 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:61026240G>A uc001nra.3 - 19 3054 c.2775C>T c.(2773-2775)acC>acT p.T925T VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 925 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGAGTCTAGAGGTGGTGGGAG 0.652000 34 80 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5433988 5433988 + Silent SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:5433988C>A uc002kmt.1 - 6 824 c.738G>T c.(736-738)ggG>ggT p.G246G EPB41L3_uc010wzh.1_Silent_p.G246G|EPB41L3_uc002kmu.1_Silent_p.G246G|EPB41L3_uc010dkq.1_Silent_p.G137G|EPB41L3_uc010dks.1_Silent_p.G268G|EPB41L3_uc002kmv.1_Silent_p.G137G NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 246 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TGTAATCGCTCCCACATTCAT 0.522000 49 138 1.55268e-80 1.57998e-80 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161116137 161116137 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:161116137C>T uc003lyu.2 + 3 746 c.408C>T c.(406-408)ttC>ttT p.F136F GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 136 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAAACTCTTCAGAATAATGC 0.363000 TCGA Ovarian(5;0.080) 2 8 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142253969 142253969 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:142253969G>A uc003eux.4 - 20 4020 c.3898C>T c.(3898-3900)Cgt>Tgt p.R1300C NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1300 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCATGAATACGAACATCGACA 0.358000 Other conserved DNA damage response genes 12 24 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232540 12232540 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:12232540G>A uc001rac.3 + 1 502 c.301G>A c.(301-303)Gag>Aag p.E101K ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.E101K|BCL2L14_uc001rae.3_Missense_Mutation_p.E101K NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA. 101 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) TGGAGTAGTGGAGAAGGAAGA 0.502000 38 23 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15820735 15820735 + Silent SNP C T T rs113154524 byFrequency TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:15820735C>T uc002ddx.3 - 28 3956 c.3849G>A c.(3847-3849)gcG>gcA p.A1283A MYH11_uc002ddv.3_Silent_p.A1283A|MYH11_uc002ddw.3_Silent_p.A1276A|MYH11_uc002ddy.3_Silent_p.A1276A|MYH11_uc010bvg.3_Silent_p.A1108A|MYH11_uc010bvh.3_5'Flank NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1276 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CATTGAGCTCCGCCCGGGCCC 0.637000 T CBFB AML 63 49 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088231 92088231 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:92088231G>A uc001xzs.1 - 18 2121 c.1981C>T c.(1981-1983)Ccc>Tcc p.P661S CATSPERB_uc010aub.1_Missense_Mutation_p.P183S NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 661 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTGTACCCGGGAAGCACTACA 0.398000 13 17 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11702663 11702663 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:11702663C>T uc002rbk.1 + 2 532 c.232C>T c.(232-234)Cct>Tct p.P78S GREB1_uc002rbl.3_Missense_Mutation_p.P78S|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.P78S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 78 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCCCCCAAACCCTTTCCAGCT 0.597000 75 49 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117556281 117556281 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:117556281C>T uc010oxb.1 + 3 1153 c.1095C>T c.(1093-1095)ttC>ttT p.F365F CD101_uc009whd.3_Silent_p.F365F|CD101_uc010oxc.1_Silent_p.F365F|CD101_uc010oxd.1_Silent_p.F303F NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 365 Ig-like C2-type 3. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCAAGATCTTCTCTCTGGGCC 0.522000 4 71 0 0 1 0 0 CXCL9 4283 broad.mit.edu 37 4 76924823 76924823 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:76924823C>T uc003hjh.1 - 3 345 c.306G>A c.(304-306)ggG>ggA p.G102G NM_002416 NP_002407 Q07325 CXCL9_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA. 102 G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATGTTTTTTCCCATTCTTTT 0.348000 25 10 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56563689 56563690 + Nonsense_Mutation DNP GG AA AA TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:56563689_56563690GG>AA uc001skb.3 - 22 2431_2432 c.2325_2326CC>TT c.(2323-2328)ccccga>ccTTga p.R776* SMARCC2_uc001skd.3_Nonsense_Mutation_p.R807*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R807*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R806*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R696* NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 776 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CCTCCTTCTCGGGGTTCCTGAA 0.485000 20 11 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 19 187 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42454661 42454661 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:42454661G>A uc001zpd.3 - 22 2378 c.2227C>T c.(2227-2229)Cgg>Tgg p.R743W VPS39_uc001zpc.3_Missense_Mutation_p.R732W|VPS39_uc001zpb.3_Missense_Mutation_p.R78W NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 743 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) AGGTACATCCGAAGCAGGGAC 0.587000 19 6 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77455013 77455013 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:77455013C>T uc004ajl.1 - 4 709 c.471G>A c.(469-471)gaG>gaA p.E157E TRPM6_uc004ajk.1_Silent_p.E152E|TRPM6_uc022bib.1_Silent_p.E152E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.E157E|TRPM6_uc010mpd.1_Silent_p.E157E|TRPM6_uc010mpe.1_Silent_p.E157E|TRPM6_uc004ajn.1_Silent_p.E157E NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 157 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 GGCTGAAAATCTCTTTAAATT 0.433000 10 58 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958486 143958486 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:143958486C>T uc010mey.3 - 4 768 c.761G>A c.(760-762)aGc>aAc p.S254N CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.S183N|CYP11B1_uc003yxj.3_Missense_Mutation_p.S183N NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 183 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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) Mitotane(DB00648) CAGGGTCAGGCTCCCCCGGGC 0.632000 Familial Hyperaldosteronism type I 21 11 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123014940 123014940 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:123014940C>T uc003egh.2 - 16 3054 c.3054G>A c.(3052-3054)tgG>tgA p.W1018* ADCY5_uc021xdd.1_Nonsense_Mutation_p.W668*|ADCY5_uc003egg.2_Nonsense_Mutation_p.W676* NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 1018 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCTGCAGTTTCCAGAGGAAGT 0.642000 13 29 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320969 47320969 + Missense_Mutation SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr21:47320969C>A uc010gqb.3 + 6 544 c.281C>A c.(280-282)aCa>aAa p.T94K PCBP3_uc002zhp.2_Missense_Mutation_p.T94K|PCBP3_uc010gqc.2_Missense_Mutation_p.T94K|PCBP3_uc002zhq.2_Missense_Mutation_p.T94K|PCBP3_uc002zhs.2_Missense_Mutation_p.T94K|PCBP3_uc002zht.2_Missense_Mutation_p.T62K NM_020528 NP_065389 P57721 PCBP3_HUMAN Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA. 94 KH 1. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) GTGACCATCACAGGCCCCACA 0.557000 40 31 1.61788e-16 1.62666e-16 1 1 0 MYLK 4638 broad.mit.edu 37 3 123451834 123451834 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:123451834C>T uc003ego.3 - 10 1707 c.1425G>A c.(1423-1425)ctG>ctA p.L475L MYLK_uc011bjw.2_Silent_p.L475L|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Silent_p.L475L|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Silent_p.L299L NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 475 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCGGGCTTTCAGCAGGCAGA 0.577000 32 5 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346761 102346761 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:102346761C>T uc010utr.2 + 0 839 c.839C>T c.(838-840)cCc>cTc p.P280L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GTTATCACTCCCGTTTTGAAT 0.348000 28 23 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189061682 189061682 + Splice_Site SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:189061682G>A uc003izm.1 + 2 524 c.409_splice c.e2-1 p.E137_splice NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 137 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TCTATTGCAGGAGAAACTCCA 0.483000 43 21 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532560 1532560 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:1532560C>T uc002wfi.3 - 1 242 c.198G>A c.(196-198)aaG>aaA p.K66K NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 66 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 GCCCTGTTCCCTTGAACCACA 0.448000 94 67 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815622 43815622 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:43815622G>A uc001zrt.3 + 3 2418 c.1951G>A c.(1951-1953)Gat>Aat p.D651N NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 651 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) AGTAAAGGAGGATGTGATAGA 0.473000 19 7 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897235 153897235 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:153897235C>T uc003inf.2 + 10 2867 c.2792C>T c.(2791-2793)cCc>cTc p.P931L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 931 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TCCCAGAATCCCCCCAGCAGC 0.677000 26 15 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53563540 53563540 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:53563540G>A uc004dsp.3 - 78 12628 c.12226C>T c.(12226-12228)Cct>Tct p.P4076S HUWE1_uc004dsn.3_Missense_Mutation_p.P2884S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 4076 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GCATACATAGGGTTAAACATC 0.478000 4 28 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 26221279 26221279 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:26221279C>T uc003xeu.3 + 7 1174 c.845C>T c.(844-846)tCc>tTc p.S282F DOCK5_uc003xek.3_Missense_Mutation_p.S283F|DOCK5_uc011laf.2_Missense_Mutation_p.S292F NM_002717 NP_002708 Q9H7D0 DOCK5_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA. 255 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TCATTTTTTTCCGAAATCATC 0.358000 19 16 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806615 100806615 + Silent SNP C A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:100806615C>A uc010svi.2 + 9 1567 c.1254C>A c.(1252-1254)tcC>tcA p.S418S SLC17A8_uc009ztx.3_Silent_p.S368S NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 418 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TGGCTATCTCCTTTCTGGTAC 0.453000 83 38 8.20599e-20 8.2775e-20 1 1 0 GBP6 163351 broad.mit.edu 37 1 89851007 89851007 + Silent SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:89851007A>G uc001dnf.2 + 10 2155 c.1881A>G c.(1879-1881)aaA>aaG p.K627K GBP6_uc010ost.1_Silent_p.K497K NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 627 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CACTCTTTAAAAAGCATAAGC 0.358000 7 73 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98709700 98709700 + Missense_Mutation SNP A G G TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:98709700A>G uc002syo.3 + 1 409 c.145A>G c.(145-147)Aaa>Gaa p.K49E VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.K49E|VWA3B_uc002syn.1_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 49 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 TAAGAGCAACAAATTGACCTT 0.448000 47 23 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28909955 28909955 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:28909955C>T uc002kwp.3 + 4 685 c.473C>T c.(472-474)tCa>tTa p.S158L NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 158 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCAGTGTTTTCAATGGCTACA 0.433000 66 12 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121353237 121353237 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:121353237C>T uc003eeh.4 - 9 845 c.720G>A c.(718-720)gcG>gcA p.A240A HCLS1_uc011bjj.2_Silent_p.A203A|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 240 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.A240A(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) ACTCAAATTTCGCCTTCAGCC 0.537000 12 39 0 0 1 0 0 TRIM14 9830 broad.mit.edu 37 9 100857228 100857228 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:100857228G>A uc004ayd.2 - 3 639 c.621C>T c.(619-621)ccC>ccT p.P207P TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Silent_p.P207P|TRIM14_uc004ayh.1_Silent_p.P207P NM_033220 NP_150089 Q14142 TRI14_HUMAN Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA. 207 cytoplasm|intracellular zinc ion binding p.P207P(2)|p.P207L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) AGCTCTTGACGGGCTCAAAGG 0.587000 5 67 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22272240 22272240 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:22272240C>T uc010ecx.3 + 3 1857 c.1688C>T c.(1687-1689)tCa>tTa p.S563L ZNF257_uc010ecy.3_Missense_Mutation_p.S531L NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AAACATAATTCATAATGGAGA 0.353000 6 6 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86697660 86697660 + Splice_Site SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:86697660G>A uc002blz.1 + 3 205 c.125_splice c.e3-1 p.D42_splice NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 42 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGTGTTCTTAGATAAAAAGAT 0.438000 7 8 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739223 119739223 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:119739223G>A uc002tln.1 + 9 1024 c.892G>A c.(892-894)Gga>Aga p.G298R MARCO_uc010yyf.1_Missense_Mutation_p.G220R NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 298 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TGGAGCTAAAGGAGATCAAGG 0.433000 54 14 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48777607 48777607 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:48777607C>T uc001zwx.2 - 29 4071 c.3676G>A c.(3676-3678)Gga>Aga p.G1226R NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 1226 EGF-like 19; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTGCAAATCCCGGCTGACAG 0.438000 50 45 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104015884 104015884 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:104015884C>T uc001tjw.3 + 4 668 c.482C>T c.(481-483)tCa>tTa p.S161L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 161 EGF-like 2. 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 CCCAGCTGTTCATCAGGTATG 0.443000 25 6 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3783999 3783999 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:3783999G>A uc002lyt.3 - 5 795 c.395C>T c.(394-396)gCt>gTt p.A132V MATK_uc002lyv.3_Missense_Mutation_p.A133V|MATK_uc002lyu.3_Missense_Mutation_p.A91V|MATK_uc010dtq.3_Missense_Mutation_p.A132V NM_139355 NP_647611 P42679 MATK_HUMAN Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA. 132 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTGGACAGCCTCCTGGCC 0.692000 14 7 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100007119 100007119 + Nonsense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:100007119C>T uc003uut.3 - 8 1048 c.800G>A c.(799-801)tGg>tAg p.W267* ZCWPW1_uc011kjq.2_Nonsense_Mutation_p.W147*|ZCWPW1_uc003uur.3_Nonsense_Mutation_p.W147*|ZCWPW1_uc003uus.3_Nonsense_Mutation_p.W147*|ZCWPW1_uc011kjr.2_Nonsense_Mutation_p.W267*|ZCWPW1_uc003uuu.1_Nonsense_Mutation_p.W267*|ZCWPW1_uc011kjp.2_Non-coding_Transcript NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 267 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCCGCCTCCATTTCCCACA 0.433000 25 14 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772195 143772195 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:143772195G>A uc011ktx.2 + 0 883 c.883G>A c.(883-885)Gaa>Aaa p.E295K NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TAGGAACAAGGAAGTCCAAGG 0.413000 220 119 0 0 1 0 0 LOC100133050 100133050 broad.mit.edu 37 5 99715528 99715528 + RNA SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:99715528C>T uc011cuw.1 - 3 c.382G>A Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA. AGCGGACAGTCGAAGCCCTTC 0.607000 26 3 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109099571 109099571 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:109099571G>A uc002tec.3 + 11 3553 c.3399G>A c.(3397-3399)aaG>aaA p.K1133K GCC2_uc002ted.3_Silent_p.K1032K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 1133 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding p.Q1132K(1) breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AACTTCAAAAGCAAAAGAAAC 0.318000 20 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067219 9067219 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9067219G>A uc002mkp.3 - 2 20431 c.20227C>T c.(20227-20229)Ctt>Ttt p.L6743F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6745 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 GTAGAGCCAAGAGGAGGACCT 0.502000 108 89 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129281942 129281942 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:129281942G>A uc003emx.2 - 25 4763 c.4663C>T c.(4663-4665)Ccc>Tcc p.P1555S PLXND1_uc011blb.1_Missense_Mutation_p.P223S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1555 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTTACCCGGGGCTTGGCCTCG 0.652000 27 16 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269390 150269390 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:150269390G>A uc003whl.3 + 2 314 c.232G>A c.(232-234)Gaa>Aaa p.E78K GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.E92K NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 78 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCATGGAAGGAAACAGAACT 0.478000 23 31 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132966164 132966164 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:132966164C>T uc003qdm.1 - 0 979 c.979G>A c.(979-981)Gat>Aat p.D327N NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA. 327 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CTGGATGAATCTTTTTGGAAA 0.289000 10 12 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3079235 3079235 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr18:3079235G>A uc002klp.3 - 33 4924 c.4590C>T c.(4588-4590)gtC>gtT p.V1530V MYOM1_uc002klq.3_Silent_p.V1434V NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1530 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGAGCTCCATGACATACTTCC 0.453000 43 8 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41422955 41422955 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:41422955T>A uc001rmm.1 + 22 3027 c.2914T>A c.(2914-2916)Tac>Aac p.Y972N CNTN1_uc001rmn.1_Missense_Mutation_p.Y961N NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 972 Fibronectin type-III 4. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGATGGAGAATACGTTGTGGA 0.448000 76 30 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24873936 24873936 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:24873936G>A uc003neo.1 - 2 369 c.193C>T c.(193-195)Ccc>Tcc p.P65S FAM65B_uc011djs.1_Missense_Mutation_p.P94S|FAM65B_uc011dju.2_Missense_Mutation_p.P99S|FAM65B_uc003nep.3_Missense_Mutation_p.P65S|FAM65B_uc011djt.2_Missense_Mutation_p.P65S NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA. 65 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TCTTTGGGGGGATTGTTGTTT 0.418000 46 41 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171510670 171510670 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:171510670G>A uc010pmg.2 + 15 4325 c.4059G>A c.(4057-4059)agG>agA p.R1353R PRRC2C_uc010pmh.2_Silent_p.R330R NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 1353 Arg-rich. protein C-terminus binding GTGGTGGAAGGGATCCTGGAG 0.517000 3 30 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646181 71646181 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr8:71646181C>T uc003xyq.3 + 4 1178 c.644C>T c.(643-645)tCg>tTg p.S215L XKR9_uc010lzd.3_Missense_Mutation_p.S83L|XKR9_uc010lze.3_Missense_Mutation_p.S215L NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 215 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) ACATTATTATCGTGGATGCTG 0.299000 47 10 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1254293 1254293 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:1254293G>A uc002cks.3 + 9 2534 c.2286G>A c.(2284-2286)cgG>cgA p.R762R CACNA1H_uc002ckt.3_Silent_p.R762R NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 762 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCCAGCGGCGGGCACAGCAGA 0.706000 11 14 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209791952 209791952 + Silent SNP G T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:209791952G>T uc001hhg.3 - 17 3144 c.2754C>A c.(2752-2754)gcC>gcA p.A918A LAMB3_uc009xco.3_Silent_p.A918A|LAMB3_uc001hhh.3_Silent_p.A918A NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 918 Domain I. 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) GCAGCCACAGGGCCAGCACGG 0.587000 7 64 2.89935e-36 2.94386e-36 1 1 0 HECW1 23072 broad.mit.edu 37 7 43503375 43503375 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:43503375C>T uc003tid.1 + 13 3373 c.2768C>T c.(2767-2769)gCc>gTc p.A923V HECW1_uc011kbi.1_Missense_Mutation_p.A889V NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 923 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GACTCAGAAGCCGAATCTTCC 0.587000 101 48 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215768791 215768791 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:215768791A>C uc001hks.3 + 9 1205 c.911A>C c.(910-912)aAt>aCt p.N304T KCTD3_uc001hkt.3_Missense_Mutation_p.N304T|KCTD3_uc010pub.2_Missense_Mutation_p.N202T|KCTD3_uc009xdn.3_Missense_Mutation_p.N56T NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 304 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GGAGTGTGGAATGCTGTCACT 0.398000 8 90 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296440 145296440 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:145296440G>A uc021oul.1 + 2 397 c.362G>A c.(361-363)cGc>cAc p.R121H NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R121H|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 121 p.R121H(2) 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) GATGCCTCCCGCTCATTGTAT 0.562000 494 8 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2795376 2795376 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:2795376G>A uc009zdu.1 + 47 6287 c.5974G>A c.(5974-5976)Gac>Aac p.D1992N CACNA1C_uc001qkc.2_Missense_Mutation_p.D1928N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D1928N|CACNA1C_uc001qke.2_Missense_Mutation_p.D1898N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D1917N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D1950N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D1915N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D1917N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D1957N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D1944N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D1969N|CACNA1C_uc001qko.2_Missense_Mutation_p.D1929N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D1937N|CACNA1C_uc001qku.2_Missense_Mutation_p.D1944N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D1926N|CACNA1C_uc001qks.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D1928N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D1906N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qki.1_Missense_Mutation_p.D1716N|CACNA1C_uc010sea.1_Missense_Mutation_p.D600N|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.D227N NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1992 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) GCGACAGAAGGACCGAGGGGG 0.572000 43 47 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761868 130761868 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr6:130761868G>A uc003qcb.3 + 1 2679 c.301G>A c.(301-303)Gaa>Aaa p.E101K TMEM200A_uc003qca.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E101K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E101K NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 101 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTCAACAAATGAAACTCAGGT 0.433000 24 33 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91779784 91779784 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:91779784C>T uc010aty.3 - 14 2530 c.2376G>A c.(2374-2376)ctG>ctA p.L792L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 792 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCTCAGCCTCCAGCTCGCCCA 0.677000 12 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13914067 13914067 + Splice_Site SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr5:13914067C>T uc003jfd.2 - 11 1363 c.1321_splice c.e11-1 p.E441_splice DNAH5_uc003jfe.1_Splice_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 441 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) AGCTGGTATTCCTTAAAATCA 0.303000 Kartagener syndrome 12 9 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37387812 37387812 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:37387812G>A uc001zjr.3 - 3 1465 c.391C>T c.(391-393)Cgc>Tgc p.R131C MEIS2_uc001zjl.3_Missense_Mutation_p.R118C|MEIS2_uc010ucj.2_Missense_Mutation_p.R118C|MEIS2_uc001zjm.3_Missense_Mutation_p.R43C|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.R131C|MEIS2_uc001zjp.3_Missense_Mutation_p.R131C|MEIS2_uc001zjs.3_Missense_Mutation_p.R131C|MEIS2_uc001zju.3_Missense_Mutation_p.R118C|MEIS2_uc001zjt.3_Missense_Mutation_p.R131C NM_170675 NP_733775 O14770 MEIS2_HUMAN Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA. 131 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TTTTCGGCGCGAACCTGTAAG 0.478000 36 30 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511240 4511240 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:4511240C>T uc002mar.1 - 2 2690 c.2690G>A c.(2689-2691)gGg>gAg p.G897E PLIN4_uc010dub.1_5'UTR NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 897 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTGGACAGTCCCTTTGGCCAA 0.607000 69 45 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362470 9362470 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:9362470G>A uc002mlb.1 + 0 751 c.751G>A c.(751-753)Ggg>Agg p.G251R NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AACATCAGATGGGAAGTATAA 0.443000 12 4 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149417952 149417952 + Missense_Mutation SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:149417952C>T uc003wfz.3 + 3 580 c.181C>T c.(181-183)Ctc>Ttc p.L61F KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 61 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGCCTGCACCTCACAGCCCT 0.647000 10 3 0 0 1 0 0 TTC9C 283237 broad.mit.edu 37 11 62502996 62502996 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:62502996C>T uc001nux.3 + 2 1032 c.780C>T c.(778-780)gcC>gcT p.A260A TTC9C_uc001nuy.3_Silent_p.A127A NM_173810 NP_776171 Q8N5M4 TTC9C_HUMAN Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA. 127 binding breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 ATGACCAGGCCCGCCACTACC 0.512000 21 9 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599307 151599307 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:151599307G>A uc003ezf.2 + 2 1081 c.976G>A c.(976-978)Gaa>Aaa p.E326K NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 326 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.E326D(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) ATGGGCTCATGAACTCCTACT 0.403000 61 20 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247684 149247684 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr2:149247684G>A uc002twm.4 + 11 4781 c.3784G>A c.(3784-3786)Gaa>Aaa p.E1262K MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.E520K|MBD5_uc002twp.3_Missense_Mutation_p.E312K NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1262 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AATTCTAGAGGAAAATTTCAG 0.408000 15 10 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61571326 61571326 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr17:61571326C>T uc002jau.2 + 20 3214 c.3180C>T c.(3178-3180)atC>atT p.I1060I ACE_uc010wpj.2_Silent_p.I486I|ACE_uc010ddv.2_Silent_p.I287I|ACE_uc002jav.2_Silent_p.I486I|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.I306I NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 1060 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TTGACAAGATCGCCTTTATCC 0.547000 7 35 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111670604 111670604 + Missense_Mutation SNP G A A rs139472133 TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:111670604G>A uc004bdm.4 - 12 1961 c.1441C>T c.(1441-1443)Cat>Tat p.H481Y IKBKAP_uc004bdl.3_Missense_Mutation_p.H132Y|IKBKAP_uc011lwc.2_Missense_Mutation_p.H367Y|IKBKAP_uc010mtq.3_Missense_Mutation_p.H132Y NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 481 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TTTTCCAAATGAGGAGTTCTA 0.423000 0 27 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68008659 68008659 + Silent SNP T C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:68008659T>C uc001xjl.1 + 1 217 c.75T>C c.(73-75)ctT>ctC p.L25L NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 25 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AAACTCAGCTTTTCCGGTTCC 0.567000 6 4 0 0 1 0 0 MIR129-1 406917 broad.mit.edu 37 7 127847972 127847972 + RNA SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr7:127847972G>A uc011koi.2 + 0 c.48G>A Homo sapiens microRNA 129-1 (MIR129-1), microRNA. CAGTAGTCAGGAAGCCCTTAC 0.587000 14 4 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725806 55725806 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr12:55725806G>A uc010spj.2 + 0 322 c.322G>A c.(322-324)Gaa>Aaa p.E108K NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T107I(1) endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 GGGGGTGACTGAATTTTACAT 0.428000 38 44 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183714431 183714431 + Silent SNP G A A rs140050384 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr4:183714431G>A uc003ivd.1 + 24 6681 c.6606G>A c.(6604-6606)acG>acA p.T2202T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2202 signal transduction integral to membrane p.T2202M(2) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAAGGGGCACGGAAATCTTTG 0.502000 38 46 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591903 38591903 + Missense_Mutation SNP T A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:38591903T>A uc021wvo.1 - 26 6012 c.5960A>T c.(5959-5961)aAc>aTc p.N1987I SCN5A_uc021wvk.1_Missense_Mutation_p.N1954I|SCN5A_uc021wvl.1_Missense_Mutation_p.N1933I|SCN5A_uc021wvm.1_Missense_Mutation_p.N1969I|SCN5A_uc021wvn.1_Missense_Mutation_p.N1986I|SCN5A_uc021wvp.1_Missense_Mutation_p.N1987I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.N1799I|SCN5A_uc021wvi.1_Missense_Mutation_p.N1853I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1987 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 p.D1986N(1) 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) CACCTGGAGGTTATCGCTGGT 0.617000 33 42 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7063791 7063791 + Silent SNP C T T rs138061199 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:7063791C>T uc001mfb.1 + 3 857 c.534C>T c.(532-534)atC>atT p.I178I NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 178 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGCCACAGATCGTGGTGCTTC 0.473000 33 63 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105800141 105800141 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr10:105800141G>A uc001kxr.3 - 39 2898 c.2729C>T c.(2728-2730)cCa>cTa p.P910L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 910 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGGCCAGGTGGGCCTGGGGG 0.547000 10 54 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584972 30584972 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:30584972G>A uc002wxe.3 + 2 1626 c.1452G>A c.(1450-1452)cgG>cgA p.R484R NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 484 integral to membrane p.R484W(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTGCTGAGCGGGATGGGGCCT 0.687000 46 30 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477763 88477763 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:88477763G>A uc021rxh.1 + 0 572 c.572G>A c.(571-573)gGc>gAc p.G191D GPR65_uc001xvv.3_Missense_Mutation_p.G191D NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 191 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACGTGTACAGGCTATGCAATA 0.418000 21 27 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30671804 30671804 + Missense_Mutation SNP A C C TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:30671804A>C uc002wxh.3 + 6 877 c.640A>C c.(640-642)Agc>Cgc p.S214R HCK_uc010gdy.3_Missense_Mutation_p.S194R|HCK_uc021wbv.1_Missense_Mutation_p.S193R|HCK_uc002wxi.3_Missense_Mutation_p.S192R NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 214 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATCCCCCCGAAGCACCTTCAG 0.587000 45 37 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544534 53544534 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr1:53544534G>A uc001cuv.3 + 7 1664 c.1496G>A c.(1495-1497)cGa>cAa p.R499Q PODN_uc010onr.2_Missense_Mutation_p.R480Q|PODN_uc010ons.2_Missense_Mutation_p.R357Q|PODN_uc001cuw.3_Missense_Mutation_p.R480Q NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 451 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGGCTGCCTCGAAATGTCCAT 0.672000 2 38 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2776303 2776303 + Silent SNP C T T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr20:2776303C>T uc002wgu.3 - 10 1736 c.1662G>A c.(1660-1662)caG>caA p.Q554Q CPXM1_uc010gas.3_Intron NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 554 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CGGAGAAGTCCTGGCTGTGGC 0.627000 39 39 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4523769 4523769 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr19:4523769G>A uc002mas.3 - 7 1216 c.1163C>T c.(1162-1164)cCc>cTc p.P388L NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN Homo sapiens perilipin 5 (PLIN5), mRNA. 388 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 GTCGGGCAGGGGCTCGGGTCG 0.736000 31 23 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136373 55136373 + Silent SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr11:55136373G>A uc010rif.2 + 0 1014 c.1014G>A c.(1012-1014)ggG>ggA p.G338G NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 338 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G338G(2)|p.A337G(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GCTTAGCTGGGAAATGGCTGT 0.368000 31 47 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957893 35957893 + Missense_Mutation SNP G A A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr9:35957893G>A uc011lpi.2 - 0 259 c.203C>T c.(202-204)tCc>tTc p.S68F NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) GTCCAGGAAGGAGAGGTTCCC 0.562000 2 22 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916445 42916445 + Frame_Shift_Del DEL C - - TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr3:42916445delC uc003cmh.3 - 0 1189 c.864delG c.(862-864)gggfs p.G288fs CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 288 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity p.T287K(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AAGAGGTAGGCCCCGTGTTCC 0.592 --- 8 --- --- 11 --- PAPLN 89932 broad.mit.edu 37 14 73716721 73716721 + Frame_Shift_Del DEL C - - TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr14:73716721delC uc010ttx.2 + 4 527 c.364delC c.(364-366)cccfs p.P122fs PAPLN_uc001xnw.4_Frame_Shift_Del_p.P122fs|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Frame_Shift_Del_p.P122fs NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 122 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GAACTGCATTCCCAAGGGGGA 0.582 --- 17 --- --- 8 --- RYR3 6263 broad.mit.edu 37 15 33952614 33952614 + Frame_Shift_Del DEL G - - TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr15:33952614delG uc001zhi.3 + 33 4682 c.4612delG c.(4612-4614)gagfs p.E1538fs RYR3_uc010bar.3_Frame_Shift_Del_p.E1538fs NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1538 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCACATCCCCGAGGAGAACAG 0.652 --- 4 --- --- 2 --- SEC14L5 9717 broad.mit.edu 37 16 5061218 5061219 + Frame_Shift_Ins INS - G G rs148186772 by1000genomes TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chr16:5061218_5061219insG uc002cye.2 + 14 2103_2104 c.1923_1924insG c.(1921-1926)cccgggfs p.P641fs NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 641 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TGCACAGCCCCGGGCCCAAGTG 0.663 --- 30 --- --- 16 --- DDX3X 1654 broad.mit.edu 37 X 41200787 41200787 + Frame_Shift_Del DEL G - - TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc30001-7e6f-4e09-92b0-0d43d632ece8 1d1757c4-bcf4-4779-8516-6b91122949c5 g.chrX:41200787delG uc004dfe.3 + 3 1057 c.202delG c.(202-204)gcgfs p.A68fs DDX3X_uc010nhf.1_Frame_Shift_Del_p.A52fs|DDX3X_uc011mks.2_Frame_Shift_Del_p.A68fs|DDX3X_uc004dff.3_Frame_Shift_Del_p.A68fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.A52fs|DDX3X_uc011mkr.2_Frame_Shift_Del_p.A68fs|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 68 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AGATAAGGATGCGTATAGCAG 0.363 HNSCC(61;0.18) --- 4 --- --- 31 ---