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 CDCA7 83879 broad.mit.edu 37 2 174223442 174223442 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:174223442G>A uc002uic.1 + 1 155 c.24G>A c.(22-24)caG>caA p.Q8Q CDCA7_uc002uid.1_Silent_p.Q8Q|CDCA7_uc010zej.1_Silent_p.Q8Q|CDCA7_uc010zek.1_Intron NM_031942 NP_114148 Q9BWT1 CDCA7_HUMAN Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA. 0 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) ATTTGCAGCAGAAAGATCTCA 0.348000 28 13 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958341 38958341 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:38958341G>A uc002oit.3 + 24 3400 c.3270G>A c.(3268-3270)gaG>gaA p.E1090E RYR1_uc002oiu.3_Silent_p.E1090E NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1090 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E1090K(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTACTTCGAGTTTGAAGCAG 0.587000 76 41 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206328847 206328847 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:206328847C>T uc001hdu.3 + 6 1032 c.914C>T c.(913-915)cCc>cTc p.P305L CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron NM_001910 NP_001901 P14091 CATE_HUMAN Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA. 310 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGGGCAGCCCCCGTGGATGGA 0.612000 69 13 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201186493 201186493 + Missense_Mutation SNP G A A rs149553166 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:201186493G>A uc001gwc.3 + 16 9804 c.9674G>A c.(9673-9675)cGg>cAg p.R3225Q IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACAGCACCTCGGGGCCCCGGC 0.652000 128 39 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50224047 50224047 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:50224047C>T uc003cyj.3 + 18 2012 c.1814_splice c.e18-1 p.A605_splice SEMA3F_uc003cyk.3_Splice_Site_p.A574_splice NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 605 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACTCTAAAGCCAACAAGAATG 0.617000 52 21 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35994009 35994009 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35994009T>A uc004ddj.3 + 14 2758 c.2692T>A c.(2692-2694)Ttt>Att p.F898I CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 898 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 AGGGATAGCATTTTCTATTTG 0.328000 211 25 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629362 1629362 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:1629362C>T uc001ltw.1 - 0 332 c.254G>A c.(253-255)gGg>gAg p.G85E MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 85 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCCACAGCCCCCCTTGGAGCC 0.667000 99 61 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16740800 16740800 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:16740800C>T uc010exm.2 - 8 913 c.765G>A c.(763-765)gtG>gtA p.V255V FAM49A_uc002rck.2_Silent_p.V255V NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA. 255 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CTCCCACCATCACCCTCATGC 0.473000 61 18 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601921 135601921 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135601921C>T uc003lbn.2 - 4 1554 c.1332G>A c.(1330-1332)atG>atA p.M444I TRPC7_uc010jef.2_Missense_Mutation_p.M380I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.M383I|TRPC7_uc010jei.2_Missense_Mutation_p.M328I NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 444 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) AGACCCACTTCATAATGAGCA 0.383000 112 10 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309797 22309797 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22309797G>A uc001wbx.2 + 1 282 c.181G>A c.(181-183)Gat>Aat p.D61N TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232. GTACAGACAGGATTGCAGGAA 0.468000 36 40 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31144519 31144519 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:31144519G>A uc003tca.2 + 14 1503 c.1214G>A c.(1213-1215)gGt>gAt p.G405D ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G433D|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G432D|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G384D|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G433D NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 405 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TTTCTGAATGGTGAGGTAAGA 0.522000 205 102 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004716 101004716 + Nonsense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:101004716T>A uc010txa.2 - 5 1518 c.1372A>T c.(1372-1374)Aag>Tag p.K458* BEGAIN_uc001yhp.3_Nonsense_Mutation_p.K394*|BEGAIN_uc001yhq.3_Nonsense_Mutation_p.K458* NM_001159531 NP_065887 Q9BUH8 BEGIN_HUMAN Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA. 458 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) TCGGCCTTCTTGCCCGGGCTG 0.721000 7 6 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060148 35060148 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:35060148C>T uc002xff.3 + 2 463 c.28C>T c.(28-30)Cgc>Tgc p.R10C DLGAP4_uc010zvp.2_Missense_Mutation_p.R10C NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 10 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAGCCGCCCCCGCCACCTCTC 0.716000 44 23 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52504022 52504022 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:52504022A>T uc010bff.3 - 34 4363 c.4201T>A c.(4201-4203)Ttc>Atc p.F1401I MYO5C_uc010uga.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1401 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ACACACATGAACAGGATATGA 0.532000 108 43 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121031050 121031050 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:121031050T>A uc010rzo.2 + 13 4896 c.4896T>A c.(4894-4896)gaT>gaA p.D1632E NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1632 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAACAGATGATTATGTGACCT 0.512000 70 54 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089873 20089873 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:20089873C>T uc010rdm.2 + 23 5441 c.5080C>T c.(5080-5082)Cgc>Tgc p.R1694C NAV2_uc001mpp.3_Missense_Mutation_p.R1574C|NAV2_uc001mpr.4_Missense_Mutation_p.R1638C|NAV2_uc021qew.1_Missense_Mutation_p.R1638C|NAV2_uc001mpt.2_Missense_Mutation_p.R687C|NAV2_uc009yhx.3_Missense_Mutation_p.R702C|NAV2_uc009yhy.1_Missense_Mutation_p.R600C|NAV2_uc009yhz.3_Missense_Mutation_p.R283C|NAV2_uc001mpu.3_Missense_Mutation_p.R76C NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 1694 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCTTTAGATTCGCAAGCTGCG 0.483000 69 25 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315660 217315660 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:217315660C>T uc002vgc.4 + 11 2273 c.1943C>T c.(1942-1944)tCc>tTc p.S648F SMARCAL1_uc002vgd.4_Missense_Mutation_p.S648F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S626F NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 648 DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CGCCTCAAGTCCGACGTCCTT 0.612000 Schimke Immuno-Osseous Dysplasia 61 32 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276752 75276752 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:75276752G>A uc002fdv.3 - 1 395 c.249C>T c.(247-249)gcC>gcT p.A83A BCAR1_uc010vna.2_Silent_p.A81A|BCAR1_uc010cgu.3_Silent_p.A83A|BCAR1_uc010vnb.2_Silent_p.A129A|BCAR1_uc002fdw.3_Silent_p.A83A|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Silent_p.A101A|BCAR1_uc002fdx.3_Silent_p.A101A NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 83 Pro-rich. B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGAGGCTGGGCCGGGGTGG 0.692000 34 22 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132091215 132091215 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:132091215C>T uc011mvd.1 - 2 984 c.568G>A c.(568-570)Gtg>Atg p.V190M HS6ST2_uc011mvb.1_Missense_Mutation_p.V44M|HS6ST2_uc011mvc.1_Missense_Mutation_p.V44M|HS6ST2_uc011mve.1_Missense_Mutation_p.V190M NM_001077188 NP_001070656 Q96MM7 H6ST2_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA. 190 integral to membrane sulfotransferase activity p.W189fs*1(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GGGTCCGGCACCGGGGAGCTG 0.622000 40 19 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47285696 47285696 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:47285696G>A uc002pfs.3 - 3 1388 c.768C>T c.(766-768)atC>atT p.I256I SLC1A5_uc010xyh.2_Silent_p.I54I|SLC1A5_uc002pfq.3_Silent_p.I80I|SLC1A5_uc002pfr.3_Silent_p.I28I NM_005628 NP_001138616 Q15758 AAAT_HUMAN Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA. 256 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity p.I256I(2) cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TGAAGAAGCGGATAAGCAGCT 0.602000 74 33 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298927 37298927 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:37298927C>T uc022abv.1 - 5 982 c.272G>A c.(271-273)cGa>cAa p.R91Q ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.R91Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R91Q NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 91 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGACTGGATTCGTTCATGGAG 0.502000 54 32 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22231020 22231020 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:22231020G>A uc004dah.3 + 16 1849 c.1646_splice c.e16-1 p.R549_splice PHEX_uc011mjr.2_Splice_Site_p.R549_splice|PHEX_uc011mjs.2_Splice_Site_p.R452_splice NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 549 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CCTTCTCATAGGATTTCCAGC 0.398000 145 29 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819306 50819306 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:50819306G>A uc001jhw.3 + 0 960 c.520G>A c.(520-522)Gac>Aac p.D174N CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA. 174 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTTCGCCGAGGACTACGCCAC 0.652000 26 21 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150155604 150155604 + Silent SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:150155604T>C uc004fep.3 + 3 386 c.294T>C c.(292-294)tcT>tcC p.S98S HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.S98S NM_005342 NP_005333 O15347 HMGB3_HUMAN Homo sapiens high mobility group box 3 (HMGB3), mRNA. 98 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAAGGTCTGGATTCTTCC 0.428000 75 12 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820627 35820627 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35820627C>T uc010ngt.1 + 1 593 c.314C>T c.(313-315)cCc>cTc p.P105L MAGEB16_uc022bus.1_Missense_Mutation_p.P105L NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA. 105 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACATCAGACCCCAGGAATGTG 0.468000 38 4 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158644451 158644451 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158644451G>A uc001fst.1 - 8 1326 c.1127C>T c.(1126-1128)tCa>tTa p.S376L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 376 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 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) AAAGTCAGATGAAAATCGATG 0.453000 170 43 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296610 62296610 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:62296610G>A uc001ntl.3 - 4 5579 c.5279C>T c.(5278-5280)cCa>cTa p.P1760L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1760 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTTCCTTCTGGTCCCTCAAT 0.478000 143 84 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140045754 140045754 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:140045754G>A uc003vvo.3 - 10 1207 c.1041C>T c.(1039-1041)ggC>ggT p.G347G SLC37A3_uc003vvp.3_Intron|SLC37A3_uc010lnh.3_Silent_p.G347G|SLC37A3_uc011kqz.2_Non-coding_Transcript NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA. 347 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) CAGAGATGAAGCCTTGCAAAG 0.498000 76 18 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42331466 42331466 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:42331466C>T uc002xlb.1 + 7 1503 c.1288C>T c.(1288-1290)Ctg>Ttg p.L430L MYBL2_uc010zwj.1_Silent_p.L406L NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 430 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TAGCACCAGTCTGTCCTTCCT 0.612000 97 12 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695261 109695261 + Silent SNP T G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:109695261T>G uc004eor.2 + 2 1662 c.1416T>G c.(1414-1416)acT>acG p.T472T RGAG1_uc011msr.1_Silent_p.T472T NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 472 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TGGCCAAAACTTCTGGAGCAA 0.512000 207 48 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440109 40440109 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:40440109G>T uc003gvc.2 - 3 1512 c.802C>A c.(802-804)Cag>Aag p.Q268K RBM47_uc003gvd.2_Missense_Mutation_p.Q268K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.Q230K|RBM47_uc003gvg.1_Missense_Mutation_p.Q268K NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 268 RRM 3. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGGTTGAACTGGCCGAAGCTC 0.592000 87 7 8.12818e-05 8.19473e-05 1 1 0 MGAT5B 146664 broad.mit.edu 37 17 74936505 74936505 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:74936505C>T uc002jti.3 + 11 1736 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S MGAT5B_uc002jth.3_Missense_Mutation_p.P534S NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 536 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTTTGGCTTCCCCTACGAGGG 0.652000 155 25 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102606504 102606504 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:102606504C>T uc010txu.2 + 0 316 c.244C>T c.(244-246)Cgc>Tgc p.R82C WDR20_uc001ylf.3_Missense_Mutation_p.R82C|WDR20_uc001ykz.3_Missense_Mutation_p.R82C|WDR20_uc001yky.2_5'UTR|WDR20_uc001yla.3_Missense_Mutation_p.R82C|WDR20_uc001ylb.3_Missense_Mutation_p.R82C|WDR20_uc001ylc.3_Missense_Mutation_p.R82C|WDR20_uc001yle.3_Missense_Mutation_p.R82C|WDR20_uc001yld.3_Missense_Mutation_p.R82C|HSP90AA1_uc001ykv.4_5'Flank NM_001242417 NP_001229346 Q8TBZ3 WDR20_HUMAN Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA. 82 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 CAAGGGGGTCCGCAAGGTACC 0.662000 28 10 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49735512 49735512 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49735512C>T uc003cxh.3 + 6 511 c.425C>T c.(424-426)tCc>tTc p.S142F RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 142 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTCCTCATCTCCTCCCAGGGG 0.607000 45 18 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807848 20807848 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:20807848G>A uc002npb.1 - 3 985 c.835C>T c.(835-837)Cat>Tat p.H279Y ZNF626_uc002npc.1_Missense_Mutation_p.H203Y NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTTTCCGTATGAATTATCTCA 0.383000 96 12 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42160643 42160643 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:42160643G>A uc001zos.3 - 32 6238 c.5905C>T c.(5905-5907)Cag>Tag p.Q1969* MIR4310_uc021sjo.1_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 2004 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin p.V1968M(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGCCCCAGCTGGGTGGCCTGC 0.682000 25 5 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22669461 22669461 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:22669461G>A uc002kvk.2 - 6 4121 c.3874C>T c.(3874-3876)Cca>Tca p.P1292S ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.P1292S|ZNF521_uc002kvl.2_Missense_Mutation_p.P1072S NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 1292 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AACTTCTGTGGACATTGTGTA 0.398000 T PAX5 ALL 41 26 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648776 169648776 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:169648776G>A uc003qwt.3 - 3 593 c.345C>T c.(343-345)atC>atT p.I115I NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 115 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.I115I(2) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGTTGGAGACGATCTCGAACT 0.657000 38 28 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112572540 112572540 + Splice_Site SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112572540A>T uc001ttp.3 + 3 134 c.48_splice c.e3-2 p.C16_splice TRAFD1_uc001tto.3_Splice_Site_p.C16_splice|TRAFD1_uc009zwb.2_Splice_Site_p.C16_splice|TRAFD1_uc010syj.1_Splice_Site NM_006700 NP_006691 O14545 TRAD1_HUMAN Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA. 16 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 CTATTTCCGTAGCAAAAAAGA 0.393000 57 19 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50125781 50125781 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:50125781C>T uc003jon.4 + 22 2401 c.2219C>T c.(2218-2220)tCa>tTa p.S740L PARP8_uc011cpz.2_Missense_Mutation_p.S632L|PARP8_uc003joo.3_Missense_Mutation_p.S740L|PARP8_uc003jop.3_Missense_Mutation_p.S698L NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 740 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TCAAGCATATCATTTGGTTAC 0.353000 66 13 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524362 55524362 + Silent SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:55524362G>T uc010spe.2 + 0 810 c.810G>T c.(808-810)ctG>ctT p.L270L NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 GCTCTCACCTGGGAGTTGTGA 0.423000 110 13 0.000151284 0.000152167 1 1 0 FBLN7 129804 broad.mit.edu 37 2 112940451 112940451 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:112940451C>T uc002tho.1 + 5 1025 c.754C>T c.(754-756)Cgt>Tgt p.R252C FBLN7_uc010fki.1_Missense_Mutation_p.R206C|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA. 252 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding p.R252S(2) 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 GGGCTCTTACCGTTGCACCTG 0.637000 57 23 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812783 38812783 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38812783C>T uc003ciq.3 - 3 586 c.586G>A c.(586-588)Gtc>Atc p.V196I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 196 sensory perception voltage-gated sodium channel complex p.V196I(2) 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) AGGGTAATGACGCTAAAATCC 0.458000 98 18 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186880444 186880444 + Silent SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:186880444A>C uc001gsc.3 + 6 686 c.481A>C c.(481-483)Aga>Cga p.R161R PLA2G4A_uc010pos.2_Intron NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 161 PLA2c.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CAGACAACAGAGAAAAGAACA 0.423000 41 30 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203552 69203552 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:69203552G>A uc003hdx.3 - 2 550 c.197C>T c.(196-198)tCt>tTt p.S66F YTHDC1_uc003hdy.3_Missense_Mutation_p.S66F NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA. 66 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CAGTTGTCTAGAATGGACAGA 0.328000 54 16 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121209082 121209082 + Silent SNP C T T rs149492812 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:121209082C>T uc003yox.3 + 5 754 c.489C>T c.(487-489)gtC>gtT p.V163V COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 163 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAATCCTGGTCGATGGTTCAT 0.438000 98 99 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51458059 51458059 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:51458059G>A uc021qxx.1 - 4 1614 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S CSRNP2_uc001rxu.2_Missense_Mutation_p.P368S NM_030809 NP_110436 Q9H175 CSRN2_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA. 368 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 AGCTCTTCGGGGACAGCCAGA 0.612000 68 25 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6014093 6014093 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:6014093A>T uc010cli.3 + 6 1391 c.1012A>T c.(1012-1014)Act>Tct p.T338S WSCD1_uc002gcn.3_Missense_Mutation_p.T338S|WSCD1_uc002gco.3_Missense_Mutation_p.T338S|WSCD1_uc010clj.3_Missense_Mutation_p.T29S NM_015253 NP_056068 Q658N2 WSCD1_HUMAN Homo sapiens WSC domain containing 1 (WSCD1), mRNA. 338 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 ACTTTCAGACACTCGTTGTAC 0.488000 250 93 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230825826 230825826 + Missense_Mutation SNP G C C rs142462148 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:230825826G>C uc001htw.3 + 15 2012 c.1861G>C c.(1861-1863)Gga>Cga p.G621R COG2_uc001htx.3_Missense_Mutation_p.G620R|COG2_uc010pwc.2_Missense_Mutation_p.G494R NM_007357 NP_031383 Q14746 COG2_HUMAN Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA. 621 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GCTTCAGAGCGGACACAAGGA 0.453000 203 31 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76717201 76717201 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:76717201C>T uc003pik.1 - 8 1013 c.883G>A c.(883-885)Gat>Aat p.D295N NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 295 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity 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) AATTACCCATCTTTTTCTTTC 0.264000 12 11 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242062183 242062183 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:242062183G>A uc002wao.2 - 11 3169 c.3036C>T c.(3034-3036)ttC>ttT p.F1012F PASK_uc010zol.2_Silent_p.F826F|PASK_uc010zom.2_Silent_p.F977F|PASK_uc010fzl.2_Silent_p.F1012F|PASK_uc010zon.2_Silent_p.F793F|PASK_uc021vzf.1_Silent_p.F1012F|PASK_uc002wap.3_Silent_p.F555F|PASK_uc002waq.3_Silent_p.F1012F NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 1012 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CAGTCCACACGAAGCCGAAGG 0.612000 93 36 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244235 100244235 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100244235T>C uc003uvy.3 - 11 1159 c.1052A>G c.(1051-1053)aAc>aGc p.N351S ACTL6B_uc003uvz.3_Non-coding_Transcript NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 351 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CAGCAGTGTGTTCCCGCCGGT 0.652000 48 8 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650496 51650496 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:51650496G>A uc002pvv.1 + 5 1212 c.1143G>A c.(1141-1143)aaG>aaA p.K381K SIGLEC7_uc002pvw.1_Silent_p.K288K|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 381 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CCTGCAGGAAGAAATCGGCAA 0.572000 45 9 0 0 1 0 0 FAM71D 161142 broad.mit.edu 37 14 67674919 67674919 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:67674919G>A uc001xja.2 + 6 1203 c.913_splice c.e6-1 p.E305_splice FAM71D_uc010aqn.2_Splice_Site NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA. 305 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) ATTTTTAAAGGAAAAATTGAA 0.358000 38 4 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126004054 126004055 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:126004054_126004055GG>AA uc001uhe.1 + 3 1169_1170 c.1161_1162GG>AA c.(1159-1164)ggggcc>ggAAcc p.A388T TMEM132B_uc021rgl.1_Missense_Mutation_p.A278T NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 388 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) ACCTGGCTGGGGCCCAGCAGAT 0.490000 70 19 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43932896 43932896 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:43932896G>A uc002xnn.2 - 2 802 c.615C>T c.(613-615)ttC>ttT p.F205F MATN4_uc002xnp.2_Silent_p.F205F|MATN4_uc002xno.2_Silent_p.F205F|MATN4_uc010zwr.1_Silent_p.F153F|MATN4_uc002xnr.1_Silent_p.F205F|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 205 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ACTGCAGGCCGAACTCCTGGA 0.617000 61 30 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367406 99367406 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:99367406G>A uc003urv.2 - 5 613 c.506C>T c.(505-507)cCt>cTt p.P169L CYP3A4_uc003urw.2_Missense_Mutation_p.P169L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P128L NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 169 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CAAGGTGACAGGCTTGCCTGT 0.522000 130 12 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591825 46591825 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:46591825C>T uc009zkj.1 - 14 1826 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K SLC38A1_uc001rpb.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E381K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 381 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTAGCCAGTTCAAATAAAGAT 0.368000 23 6 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383326 61383326 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:61383326G>A uc002ljk.4 + 5 583 c.412G>A c.(412-414)Gaa>Aaa p.E138K SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Missense_Mutation_p.E25K|SERPINB11_uc002ljj.4_Missense_Mutation_p.E25K|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 139 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TGTGGATTTTGAACAGTCTAC 0.343000 12 6 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019901 23019901 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:23019901C>T uc004daj.3 + 0 1824 c.1727C>T c.(1726-1728)tCg>tTg p.S576L NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 576 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding p.S576L(2) breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAGAGAGATTCGAAAATGGCC 0.413000 113 26 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85424379 85424379 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:85424379G>A uc001dkm.3 - 2 485 c.244C>T c.(244-246)Cgt>Tgt p.R82C MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 82 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AAACCAAAACGAACAAGCTAA 0.333000 29 4 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77105512 77105512 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:77105512C>T uc002lmx.3 + 21 2571 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* ATP9B_uc002lmw.1_Nonsense_Mutation_p.Q853*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.Q547*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'UTR|ATP9B_uc010drb.3_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 853 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) CTCACCCACCCAGAAGGCCCG 0.602000 84 24 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6266848 6266848 + Nonsense_Mutation SNP G A A rs121913065 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:6266848G>A uc003mwv.3 - 3 637 c.514C>T c.(514-516)Cga>Tga p.R172* F13A1_uc011dib.2_Nonsense_Mutation_p.R109* NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 172 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R172Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGACTGGTTCGAAGTACGCCA 0.458000 108 64 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9263815 9263815 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:9263815C>T uc002knv.3 + 9 5956 c.5692C>T c.(5692-5694)Cca>Tca p.P1898S ANKRD12_uc002knw.3_Missense_Mutation_p.P1875S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1875S NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1898 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACTGTCAGATCCACTTAAAGA 0.289000 67 10 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878145 5878145 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:5878145G>A uc010qzr.2 - 0 788 c.788C>T c.(787-789)tCa>tTa p.S263L TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCAAGAATGAAAAAAATGC 0.428000 96 19 0 0 1 0 0 TMEM99 147184 broad.mit.edu 37 17 38990881 38990881 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38990881C>T uc021txc.1 + 2 412 c.113C>T c.(112-114)tCa>tTa p.S38L TMEM99_uc002hvj.1_Missense_Mutation_p.S38L|TMEM99_uc021txd.1_Missense_Mutation_p.S38L|TMEM99_uc021txe.1_Missense_Mutation_p.S38L NM_001195387 NP_001182316 Q8N816 TMM99_HUMAN Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA. 38 integral to membrane p.S38L(2) cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GTTCCTCATTCAGCTGGTCAC 0.522000 100 33 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6477418 6477418 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:6477418C>T uc002mfe.3 - 6 510 c.418G>A c.(418-420)Ggg>Agg p.G140R DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.G96R NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 140 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCCTGGGGCCCAGACAGGGAC 0.622000 28 9 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62292766 62292767 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:62292766_62292767CC>TT uc021wge.1 + 1 388_389 c.218_219CC>TT c.(217-219)gcc>gTT p.A73V RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.A73V|RTEL1_uc011abd.2_Missense_Mutation_p.A73V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.A73V|RTEL1_uc011abe.1_5'UTR NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 73 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CGCAAGATTGCCGAGAGGGCGC 0.639000 52 24 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602715 13602715 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:13602715T>A uc003gmz.1 - 9 5926 c.5809A>T c.(5809-5811)Aca>Tca p.T1937S BOD1L1_uc010idr.1_Missense_Mutation_p.T1274S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 1937 DNA binding CCTTTCTCTGTGCCACTCATG 0.468000 57 18 0 0 1 0 0 AQP8 343 broad.mit.edu 37 16 25228656 25228656 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:25228656C>T uc002doc.3 + 1 232 c.150C>T c.(148-150)ttC>ttT p.F50F NM_001169 NP_001160 O94778 AQP8_HUMAN Homo sapiens aquaporin 8 (AQP8), mRNA. 50 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) TCTTCATCTTCATCGGGTGCC 0.642000 193 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647693 179647693 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179647693G>A uc021vsy.1 - 17 3165 c.2940C>T c.(2938-2940)gaC>gaT p.D980D TTN_uc021vsz.1_Silent_p.D934D|TTN_uc021vta.1_Silent_p.D934D|TTN_uc021vtb.1_Silent_p.D934D|TTN_uc002unb.2_Silent_p.D980D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 980 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S979N(1) 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) CGATTTGGTAGTCTTCCCTGT 0.468000 78 23 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:22382594G>A uc001yuc.1 + 6 1103 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 463 79 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461236 5461236 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:5461236G>A uc003jdm.4 + 12 2011 c.1789G>A c.(1789-1791)Gaa>Aaa p.E597K NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 597 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAGGAAAAAGAAGATACTCA 0.398000 93 49 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185229 56185229 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56185229G>A uc010rji.2 - 0 480 c.480C>T c.(478-480)acC>acT p.T160T OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AAGTGATAACGGTGTGGAAGA 0.453000 65 32 0 0 1 0 0 CD68 968 broad.mit.edu 37 17 7483543 7483543 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7483543G>A uc002ghv.3 + 1 656 c.465G>A c.(463-465)gaG>gaA p.E155E CD68_uc002ghu.3_Silent_p.E128E NM_001251 NP_001242 P34810 CD68_HUMAN Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA. 155 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 CCTCCAAGGAGACCATTGGAG 0.572000 21 8 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88926236 88926236 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:88926236G>A uc001tav.3 - 2 369 c.174C>T c.(172-174)gtC>gtT p.V58V KITLG_uc001taw.3_Silent_p.V58V|KITLG_uc009zso.1_Non-coding_Transcript NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 58 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 CCATCCCGGGGACATATTTGA 0.323000 Testicular Cancer, Familial Clustering of 64 21 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38755538 38755538 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38755538C>T uc003ciq.3 - 20 3715 c.3715G>A c.(3715-3717)Gaa>Aaa p.E1239K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1239 sensory perception voltage-gated sodium channel complex 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) TCAGAATATTCCAGAATCTTC 0.522000 95 24 0 0 1 0 0 PIM1 5292 broad.mit.edu 37 6 37139091 37139092 + Missense_Mutation DNP CC GT GT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:37139091_37139092CC>GT uc003onk.3 + 3 861_862 c.431_432CC>GT c.(430-432)gcc>gGT p.A144G PIM1_uc011dtw.2_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA. 235 Protein kinase. Y -> H (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) GAGGAGCTGGCCCGCAGCTTCT 0.614000 T BCL6 NHL 97 53 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307048 120307048 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120307048G>A uc001eid.3 - 1 394 c.306C>T c.(304-306)atC>atT p.I102I HMGCS2_uc010oxj.2_Silent_p.I102I|HMGCS2_uc021osx.1_Silent_p.I10I NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 102 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ACAGGGAGTTGATGTCCTCTT 0.547000 98 63 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72641531 72641531 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:72641531G>A uc002aun.4 - 7 1082 c.875C>T c.(874-876)cCc>cTc p.P292L BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P303L|HEXA_uc010bix.3_Missense_Mutation_p.P292L|HEXA_uc010biy.2_Missense_Mutation_p.P155L|HEXA_uc010uko.1_Missense_Mutation_p.P118L NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 292 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ATTGAGACTGGGATTCACTGG 0.453000 42 24 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730676 37730676 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:37730676C>T uc003xkm.2 - 3 1700 c.1644G>A c.(1642-1644)gcG>gcA p.A548A RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 548 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGTGGGTTGCGCCTCTGGAG 0.502000 54 10 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54496497 54496497 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:54496497C>T uc004dtg.3 - 3 1787 c.1053G>A c.(1051-1053)aaG>aaA p.K351K FGD1_uc011moi.1_Silent_p.K109K NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 351 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TTTCTCTGtccttctcttcct 0.602000 18 23 0 0 1 0 0 C7orf58 79974 broad.mit.edu 37 7 120911478 120911478 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:120911478C>T uc003vjq.4 + 21 3309 c.2862C>T c.(2860-2862)ttC>ttT p.F954F NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 954 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) GATGTCATTTCCATGAGGTAT 0.338000 117 10 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692398 135692398 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135692398C>T uc003lbn.2 - 1 900 c.678G>A c.(676-678)gcG>gcA p.A226A TRPC7_uc010jef.2_Silent_p.A217A|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.A226A|TRPC7_uc010jei.2_Silent_p.A226A NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 226 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) AGGCAGCACTCGCCAGTCCTT 0.557000 15 11 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7351964 7351964 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7351964G>A uc002ghb.3 + 6 718 c.677G>A c.(676-678)gGa>gAa p.G226E CHRNB1_uc010vty.2_Missense_Mutation_p.G154E|CHRNB1_uc010vtz.1_Missense_Mutation_p.G60E NM_000747 NP_000738 P11230 ACHB_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA. 226 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GATCCTAGGGGAGGGAGGGAA 0.567000 41 20 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112648052 112648052 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112648052G>A uc021reb.1 - 49 7628 c.7232C>T c.(7231-7233)aCc>aTc p.T2411I C12orf51_uc001ttr.1_Missense_Mutation_p.T298I NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TCGGGTTTTGGTGTTCTGGAA 0.512000 104 36 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166559 21166559 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:21166559G>A uc003zom.2 - 0 101 c.53C>T c.(52-54)tCc>tTc p.S18F NM_002175 NP_002166 P01568 IFN21_HUMAN Homo sapiens interferon, alpha 21 (IFNA21), mRNA. 18 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 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGAACAGATGGATTTGTAGCT 0.502000 65 15 0 0 1 0 0 AQPEP 206338 broad.mit.edu 37 5 115319105 115319105 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:115319105C>T uc003kro.3 + 1 981 c.817C>T c.(817-819)Ctt>Ttt p.L273F AQPEP_uc003krp.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 273 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TTATGTGGCCCTTTCCAACAT 0.368000 24 20 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57143616 57143616 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:57143616G>A uc003dil.3 - 4 588 c.499C>T c.(499-501)Cct>Tct p.P167S IL17RD_uc003dik.3_Missense_Mutation_p.P143S|IL17RD_uc010hna.3_Missense_Mutation_p.P23S|IL17RD_uc011bex.1_Missense_Mutation_p.P23S NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 167 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TTAATGGAAGGAAAAGGGACA 0.408000 61 21 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212607 50212607 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:50212607C>T uc001zxu.3 - 18 1901 c.1759_splice c.e18-1 p.E587_splice ATP8B4_uc010ber.3_Splice_Site_p.E460_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E397_splice|ATP8B4_uc010ufe.2_Splice_Site NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 587 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) CCTGCAAATTCCTGCCAGAGA 0.403000 27 11 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175577921 175577921 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:175577921C>T uc003ity.1 - 8 1592 c.1089G>A c.(1087-1089)ctG>ctA p.L363L GLRA3_uc003itz.1_Intron NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 363 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AAAACTTCTCCAGTGCAAAAG 0.353000 44 7 0 0 1 0 0 NPIPL2 440348 broad.mit.edu 37 16 74425410 74425410 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:74425410C>T uc010vmt.1 + 5 582 c.581C>T c.(580-582)tCt>tTt p.S194F C9J9U8 C9J9U8_HUMAN RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor; 255 endometrium(5)|kidney(3)|lung(1)|prostate(8) 17 CAACAACATTCTATAACTGAT 0.502000 130 20 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265424 140265424 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:140265424C>T uc003etn.3 + 9 1765 c.1575C>T c.(1573-1575)cgC>cgT p.R525R CLSTN2_uc003etm.2_Silent_p.R525R NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 525 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCACCATCCGCCCTGGCAAAA 0.502000 HNSCC(16;0.037) 35 17 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38813728 38813728 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38813728C>T uc002hvc.2 - 4 600 c.535G>A c.(535-537)Gaa>Aaa p.E179K KRT222_uc002hvb.2_Missense_Mutation_p.E139K|KRT222_uc010cxc.3_3'UTR NM_152349 NP_689562 Q8N1A0 KT222_HUMAN Homo sapiens keratin 222 (KRT222), mRNA. 179 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 AAAGATATTTCATTTATAATG 0.269000 15 4 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591097 67591097 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:67591097A>G uc003jva.3 + 12 2270 c.1690A>G c.(1690-1692)Aac>Gac p.N564D PIK3R1_uc003jvc.3_Missense_Mutation_p.N264D|PIK3R1_uc003jvd.3_Missense_Mutation_p.N294D|PIK3R1_uc003jve.3_Missense_Mutation_p.N243D|PIK3R1_uc021xzn.1_Missense_Mutation_p.N201D|PIK3R1_uc011crb.2_Missense_Mutation_p.N234D NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 564 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAACGTATGAACAGCATTAA 0.373000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 84 26 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43496189 43496189 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:43496189T>C uc002zag.1 + 1 152 c.152T>C c.(151-153)gTg>gCg p.V51A UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51A|AX748362_uc002zah.1_Non-coding_Transcript NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 51 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGGAGGCCGTGCAGACGTCC 0.592000 116 53 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175241 193175241 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:193175241G>T uc003ftd.3 - 14 1796 c.1688C>A c.(1687-1689)tCt>tAt p.S563Y ATP13A4_uc003fte.1_Missense_Mutation_p.S563Y|ATP13A4_uc011bsr.1_Missense_Mutation_p.S34Y|ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 563 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATCGTCCCCAGAAAAAGCCAT 0.473000 71 40 1.49673e-21 1.54698e-21 1 1 0 KIAA1210 57481 broad.mit.edu 37 X 118223062 118223062 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118223062C>T uc004era.4 - 10 2131 c.2131G>A c.(2131-2133)Gat>Aat p.D711N NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 711 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTTTGTAAATCAAAGCTGAAA 0.433000 49 13 0 0 1 0 0 SLC25A48 153328 broad.mit.edu 37 5 135207534 135207534 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135207534C>T uc003laz.1 + 4 978 c.806C>T c.(805-807)tCt>tTt p.S269F SLC25A48_uc003lba.3_Intron Q6ZT89 S2548_HUMAN Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA. 0 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CCCAACAATTCTTTGTTAGGT 0.562000 12 14 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130130907 130130907 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:130130907G>A uc001qga.3 - 1 1256 c.862C>T c.(862-864)Cgg>Tgg p.R288W ZBTB44_uc001qgb.4_Missense_Mutation_p.R288W|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.R288W|ZBTB44_uc001qfz.3_Missense_Mutation_p.R288W NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA. 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) ACTTTGACCCGGACATCTTCT 0.478000 91 46 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461997 5461997 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:5461997G>A uc002gci.3 - 3 2574 c.2019C>T c.(2017-2019)ttC>ttT p.F673F NLRP1_uc002gcg.1_Silent_p.F673F|NLRP1_uc002gch.4_Silent_p.F673F|NLRP1_uc002gck.3_Silent_p.F673F|NLRP1_uc002gcj.3_Silent_p.F673F|NLRP1_uc002gcl.3_Silent_p.F673F|NLRP1_uc010clh.3_Silent_p.F673F NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 673 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GGCCCAATAGGAAACGTGTGG 0.498000 137 38 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51138511 51138512 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:51138511_51138512GG>AA uc001rwv.3 + 37 4776_4777 c.4620_4621GG>AA c.(4618-4623)gtggac>gtAAac p.D1541N DIP2B_uc009zlt.3_Missense_Mutation_p.D971N NM_173602 NP_775873 Q9P265 DIP2B_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA. 1541 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TGGTTGTGGTGGACCCAGGTGT 0.545000 53 10 0 0 1 0 0 FZD4 8322 broad.mit.edu 37 11 86663456 86663456 + Silent SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:86663456A>G uc001pce.3 - 1 655 c.342T>C c.(340-342)atT>atC p.I114I PRSS23_uc001pcc.1_Non-coding_Transcript NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN Homo sapiens frizzled family receptor 4 (FZD4), mRNA. 114 FZ. I -> T (in EVR1). Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis cell projection|cell surface|cytoplasm G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCATGGGCCAATGGGGATGT 0.448000 65 37 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202572213 202572213 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:202572213C>T uc001gye.3 - 3 572 c.379G>A c.(379-381)Ggg>Agg p.G127R SYT2_uc010pqb.2_Missense_Mutation_p.G127R|SYT2_uc009xaf.3_5'UTR NM_001136504 NP_796376 Q8N9I0 SYT2_HUMAN Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA. 127 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TCACCTTCCCCCTCAGTCAGG 0.552000 120 34 0 0 1 0 0 TMEM178 130733 broad.mit.edu 37 2 39931233 39931233 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:39931233G>A uc002rrt.3 + 1 493 c.413G>A c.(412-414)cGa>cAa p.R138Q TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.R138Q NM_152390 NP_689603 Q8NBL3 TM178_HUMAN Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA. 138 integral to membrane endometrium(1)|large_intestine(5)|lung(5) 11 all_hematologic(82;0.248) ATTGCGCAGCGATGCACGGCC 0.448000 29 23 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39780994 39780994 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:39780994C>T uc003xnm.3 + 6 658 c.544C>T c.(544-546)Cct>Tct p.P182S NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 182 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TTAGGTAATTCCTACTGTATT 0.378000 18 3 0 0 1 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249517 119249517 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:119249517C>T uc004esk.1 - 0 331 c.256G>A c.(256-258)Gag>Aag p.E86K AK123976_uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA. 86 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 GCCGGCTCCTCCGGCGGGGGC 0.692000 57 34 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7441758 7441758 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:7441758C>T uc001mfe.3 + 5 1596 c.1359C>T c.(1357-1359)atC>atT p.I453I 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. 453 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) ATGAGATCATCGGCGTGTGTC 0.443000 69 15 0 0 1 0 0 COX6B2 125965 broad.mit.edu 37 19 55865856 55865856 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55865856C>T uc002qkn.3 - 1 498 c.34G>A c.(34-36)Ggg>Agg p.G12R COX6B2_uc002qkm.3_Non-coding_Transcript|COX6B2_uc002qko.3_Non-coding_Transcript|COX6B2_uc002qkp.1_Missense_Mutation_p.G12R NM_144613 NP_653214 Q6YFQ2 CX6B2_HUMAN Homo sapiens cytochrome c oxidase subunit VIb polypeptide 2 (testis) (COX6B2), mRNA. 12 mitochondrial crista|mitochondrial intermembrane space cytochrome-c oxidase activity endometrium(1)|kidney(1)|lung(2)|pancreas(1) 5 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GACCATTTCCCCTTGGGGGGC 0.657000 147 58 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49701251 49701251 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49701251G>A uc003cxe.4 + 7 11654 c.11540G>A c.(11539-11541)gGg>gAg p.G3847E NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3847 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCTCTAAAGGGACAGCCAAA 0.582000 63 31 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68942864 68942864 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:68942864G>A uc003xxv.1 + 5 703 c.676G>A c.(676-678)Gaa>Aaa p.E226K PREX2_uc003xxu.1_Missense_Mutation_p.E226K|PREX2_uc011lez.1_Missense_Mutation_p.E161K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 226 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGTTTTAGAGGAATGGCAGTC 0.458000 123 14 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990214 56990214 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:56990214C>T uc001cyj.2 - 2 878 c.310G>A c.(310-312)Gaa>Aaa p.E104K NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 104 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CGGTAGAATTCCCCCGTGATG 0.473000 37 14 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025445 16025445 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:16025445G>A uc002nbu.2 - 10 1317 c.1281C>T c.(1279-1281)atC>atT p.I427I CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Silent_p.I427I NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 427 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GGTTGTAATGGATCCCGATAA 0.567000 78 25 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110865019 110865019 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:110865019G>A uc003hzy.4 + 3 983 c.531G>A c.(529-531)gaG>gaA p.E177E EGF_uc011cfu.2_Silent_p.E177E|EGF_uc011cfv.2_Silent_p.E177E NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 177 DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGTCTTCAGAGGTGGCTGGAA 0.433000 50 13 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12937851 12937851 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:12937851A>G uc004cvd.3 + 2 916 c.746A>G c.(745-747)aAc>aGc p.N249S TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.N231S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 231 I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity p.N249K(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTTCTGAGCAACACCCAGATC 0.413000 163 8 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30897927 30897927 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:30897927G>A uc002wxq.3 + 1 527 c.347G>A c.(346-348)aGa>aAa p.R116K KIF3B_uc010ztv.2_Missense_Mutation_p.R116K|KIF3B_uc010ztw.2_Missense_Mutation_p.R116K NM_004798 NP_004789 O15066 KIF3B_HUMAN Homo sapiens kinesin family member 3B (KIF3B), mRNA. 116 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCTGAAAAAAGAGGAGTCATT 0.448000 45 27 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46875638 46875638 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:46875638C>T uc002zhi.3 + 0 215 c.194C>T c.(193-195)aCc>aTc p.T65I COL18A1_uc002zhg.3_Intron NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 65 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ACACACGTGACCCCCCGGAAT 0.637000 129 53 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494344 7494344 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:7494344C>T uc003bqm.2 + 5 1499 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.Q409*|GRM7_uc003bql.2_Nonsense_Mutation_p.Q409*|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 409 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGGTAAAGTCCAGTTCGTGAT 0.483000 38 24 0 0 1 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39564933 39564933 + RNA SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:39564933C>A uc021txj.1 + 1 c.354C>A Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA. TCAGGGACTCCAGCTGGGCCT 0.582000 22 19 2.39556e-15 2.45538e-15 1 1 0 TRDMT1 1787 broad.mit.edu 37 10 17201180 17201180 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:17201180G>A uc001iop.3 - 6 945 c.508C>T c.(508-510)Cag>Tag p.Q170* TRDMT1_uc001ios.3_Nonsense_Mutation_p.Q99*|TRDMT1_uc009xjt.3_Nonsense_Mutation_p.Q89*|TRDMT1_uc010qcc.1_Nonsense_Mutation_p.Q99*|TRDMT1_uc010qcd.2_Intron|TRDMT1_uc021pnn.1_Non-coding_Transcript|TRDMT1_uc009xjs.1_Nonsense_Mutation_p.Q87*|TRDMT1_uc021pno.1_Non-coding_Transcript|TRDMT1_uc009xju.1_Non-coding_Transcript NM_004412 NP_004403 O14717 TRDMT_HUMAN Homo sapiens tRNA aspartic acid methyltransferase 1 (TRDMT1), mRNA. 170 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 GGCTCTGACTGAAGCTTTGCA 0.328000 80 24 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059676 248059676 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248059676G>A uc010pzb.2 + 0 788 c.788G>A c.(787-789)gGa>gAa p.G263E OR2W3_uc001idp.1_Missense_Mutation_p.G263E NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGCAGCCAGGAGCCAGTTCT 0.527000 154 20 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678173 48678173 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:48678173C>T uc002irk.1 + 17 4149 c.3777C>T c.(3775-3777)ttC>ttT p.F1259F CACNA1G_uc002iri.1_Silent_p.F1259F|CACNA1G_uc002irj.1_Silent_p.F1236F|CACNA1G_uc002irl.1_Silent_p.F1236F|CACNA1G_uc002irm.1_Silent_p.F1236F|CACNA1G_uc002irn.1_Silent_p.F1236F|CACNA1G_uc002iro.1_Silent_p.F1236F|CACNA1G_uc002irp.1_Silent_p.F1259F|CACNA1G_uc002irq.1_Silent_p.F1236F|CACNA1G_uc002irr.1_Silent_p.F1259F|CACNA1G_uc002irs.1_Silent_p.F1259F|CACNA1G_uc002irt.1_Silent_p.F1259F|CACNA1G_uc002iru.1_Silent_p.F1236F|CACNA1G_uc002irv.1_Silent_p.F1259F|CACNA1G_uc002irw.1_Silent_p.F1236F|CACNA1G_uc002irx.1_Silent_p.F1172F|CACNA1G_uc002iry.1_Silent_p.F1172F|CACNA1G_uc002isg.1_Silent_p.F1172F|CACNA1G_uc002ish.1_Silent_p.F1172F|CACNA1G_uc002isi.1_Silent_p.F1149F|CACNA1G_uc002irz.1_Silent_p.F1172F|CACNA1G_uc002isa.1_Silent_p.F1172F|CACNA1G_uc002isd.1_Silent_p.F1172F|CACNA1G_uc002isb.1_Silent_p.F1172F|CACNA1G_uc002isc.1_Silent_p.F1172F|CACNA1G_uc002ise.1_Silent_p.F1172F|CACNA1G_uc002isf.1_Silent_p.F1172F|CACNA1G_uc002isj.3_5'UTR NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1259 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTACATCTTCCCTCCTCAGT 0.592000 36 28 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222028 118222028 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118222028G>A uc004era.4 - 10 3165 c.3165C>T c.(3163-3165)tcC>tcT p.S1055S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1055 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCGAGGGCTGGGAAAGGCATC 0.532000 176 35 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801948 185801948 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:185801948G>A uc002uph.3 + 3 2419 c.1825G>A c.(1825-1827)Gag>Aag p.E609K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 609 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCATCATATGGAGAAAACCAA 0.328000 80 23 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29055985 29055985 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:29055985C>T uc002kws.3 + 15 2871 c.2762C>T c.(2761-2763)tCc>tTc p.S921F DSG3_uc002kwt.3_Missense_Mutation_p.S203F NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 921 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.S921Y(2) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAGCTGTTTCCATCCCTGAC 0.502000 39 17 0 0 1 0 0 GINS1 9837 broad.mit.edu 37 20 25405940 25405940 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:25405940C>T uc002wuv.1 + 4 558 c.424C>T c.(424-426)Cca>Tca p.P142S GINS1_uc010zte.1_Non-coding_Transcript NM_021067 NP_066545 Q14691 PSF1_HUMAN Homo sapiens GINS complex subunit 1 (Psf1 homolog) (GINS1), mRNA. 142 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 GGATATGAAACCACCAAAAAG 0.318000 51 24 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106629 168106629 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168106629C>T uc002udx.3 + 8 8816 c.8727C>T c.(8725-8727)gtC>gtT p.V2909V XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.V2734V|XIRP2_uc010fpq.3_Silent_p.V2687V|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2734 actin cytoskeleton organization cell junction actin binding p.Q2908*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAACAAGTCTTCTCTAATA 0.388000 62 37 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211328 78211328 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:78211328C>T uc010bky.2 - 10 1203 c.439G>A c.(439-441)Gag>Aag p.E147K Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. TGCAGCCTCTCACCCTGCTCC 0.592000 241 109 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25028503 25028503 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:25028503G>A uc003grf.2 - 2 427 c.328C>T c.(328-330)Cat>Tat p.H110Y NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 110 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TATTCAAGATGAAAAAGTCCA 0.388000 60 20 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73470671 73470671 + Missense_Mutation SNP G C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:73470671G>C uc002avm.4 + 6 1386 c.1194G>C c.(1192-1194)ttG>ttC p.L398F NEO1_uc010ukx.2_Missense_Mutation_p.L398F|NEO1_uc010uky.2_Missense_Mutation_p.L398F|NEO1_uc002avn.4_Missense_Mutation_p.L398F|NEO1_uc010ukz.2_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 398 Ig-like C2-type 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TTCAAGTTTTGGGTCTGGTGA 0.328000 34 14 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081330 54081330 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:54081330G>A uc021vhn.1 - 0 564 c.564C>T c.(562-564)ctC>ctT p.L188L GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.L188L NM_006794 NP_006785 O95800 GPR75_HUMAN Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA. 188 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGGAAGACAGAGGTGGGACT 0.532000 49 17 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133246 64133246 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:64133246G>A uc003dmf.3 - 6 1506 c.920C>T c.(919-921)tCa>tTa p.S307L NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA. 307 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GCAGGCCCGTGAGCAGAATAT 0.592000 110 33 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476556 120476556 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:120476556C>T uc004bjz.3 + 2 2441 c.2150C>T c.(2149-2151)gCc>gTc p.A717V TLR4_uc004bkb.3_Missense_Mutation_p.A517V|TLR4_uc004bka.3_Missense_Mutation_p.A677V NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 717 TIR. I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.A717D(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CCCGGTGTGGCCATTGCTGCC 0.473000 56 30 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44681407 44681407 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:44681407C>T uc002oys.3 + 5 2172 c.1992C>T c.(1990-1992)gtC>gtT p.V664V ZNF226_uc002oyp.3_Silent_p.V664V|ZNF226_uc002oyq.3_Silent_p.V547V|ZNF226_uc002oyr.3_Silent_p.V547V|ZNF226_uc002oyt.3_Silent_p.V664V NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) ATCAAAAAGTCCACACTGGAG 0.473000 111 8 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390355 197390355 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:197390355G>A uc001gtz.3 + 5 1606 c.1397G>A c.(1396-1398)gGa>gAa p.G466E CRB1_uc010poz.2_Missense_Mutation_p.G397E|CRB1_uc009wza.3_Missense_Mutation_p.G354E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G466E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G115E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 466 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGCCAGCATGGATTCAGCTGC 0.502000 67 81 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240374458 240374458 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:240374458G>A uc010pye.2 + 6 4225 c.4000G>A c.(4000-4002)Gaa>Aaa p.E1334K FMN2_uc010pyd.2_Missense_Mutation_p.E1330K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1330 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGAATTTGAGGAATTATTTTC 0.328000 108 22 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73749091 73749091 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:73749091C>T uc004ebt.2 + 4 1602 c.1436C>T c.(1435-1437)cCc>cTc p.P479L SLC16A2_uc010nlr.1_Intron NM_006517 NP_006508 P36021 MOT8_HUMAN Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA. 405 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) ATGATGATTCCCCTGTGCCGG 0.562000 51 6 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41058176 41058176 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:41058176G>A uc003jmj.4 - 6 1235 c.745C>T c.(745-747)Cat>Tat p.H249Y HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.H249Y NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 249 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 TGAGTGACATGGAAATCAATC 0.522000 49 9 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63223508 63223509 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:63223508_63223509CC>TT uc002jfe.3 + 18 2211_2212 c.2008_2009CC>TT c.(2008-2010)ccc>TTc p.P670F RGS9_uc002jfd.3_Missense_Mutation_p.P667F|RGS9_uc002jfg.3_Missense_Mutation_p.P441F NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 670 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GGTCATCTGCCCCTGGGAGAGC 0.604000 17 9 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735360 109735360 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:109735360C>T uc021orb.1 + 13 2032 c.1811C>T c.(1810-1812)tCt>tTt p.S604F KIAA1324_uc009wex.2_Missense_Mutation_p.S554F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S502F|KIAA1324_uc009wey.3_Missense_Mutation_p.S517F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S254F NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 604 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCCTGCACCTCTTGTCCTGCT 0.527000 271 40 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92251638 92251638 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:92251638C>T uc001xzu.4 - 10 1421 c.1230G>A c.(1228-1230)ctG>ctA p.L410L TC2N_uc001xzt.4_Silent_p.L410L|TC2N_uc010auc.3_Silent_p.L346L|TC2N_uc001xzv.4_Silent_p.L410L NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 410 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TGGAGGCCTTCAGTAAGCGTG 0.343000 220 71 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585775 178585775 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:178585775C>T uc003mjw.3 - 5 1183 c.1081G>A c.(1081-1083)Gat>Aat p.D361N ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 361 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGCGTGATCGTGGTATTCA 0.607000 100 27 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244640 100244640 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100244640T>C uc003uvy.3 - 9 997 c.890A>G c.(889-891)gAg>gGg p.E297G ACTL6B_uc003uvz.3_Non-coding_Transcript NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 297 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCGGAGTCGCTCGGCGCCGTA 0.612000 64 13 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150747973 150747973 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:150747973G>A uc003wio.2 + 3 1310 c.942G>A c.(940-942)ggG>ggA p.G314G ASIC3_uc003win.2_Silent_p.G314G|ASIC3_uc003wip.2_Silent_p.G314G|ASIC3_uc003wiq.2_Non-coding_Transcript NM_020321 NP_064717 Q9UHC3 ACCN3_HUMAN Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA. 314 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CCCTTATGGGGTGTCGCCTGG 0.632000 37 20 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245554 1245554 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:1245554C>T uc002cks.3 + 3 782 c.534C>T c.(532-534)atC>atT p.I178I CACNA1H_uc002ckt.3_Silent_p.I178I NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 178 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) ATTTCTTCATCGTCGTGGCGG 0.607000 4 3 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115998159 115998159 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:115998159G>A uc003ibu.3 - 1 713 c.34C>T c.(34-36)Cga>Tga p.R12* NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 12 R -> Q (in dbSNP:rs35181627). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATCAATGTTCGAAAACTTCTC 0.343000 10 16 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29523699 29523699 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:29523699C>T uc003nmo.3 - 1 680 c.456G>A c.(454-456)aaG>aaA p.K152K GABBR1_uc003nmp.4_3'UTR NM_006398 NP_006389 O15205 UBD_HUMAN Homo sapiens ubiquitin D (UBD), mRNA. 152 Ubiquitin 2. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 GTAAGTTGCCCTTTCTGATGC 0.463000 80 27 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43515648 43515648 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:43515648G>A uc004dfy.3 + 0 240 c.59G>A c.(58-60)gGa>gAa p.G20E MAOA_uc011mkw.2_5'UTR NM_000240 NP_000231 P21397 AOFA_HUMAN Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA. 20 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding p.G20E(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GTCGTGATCGGAGGTGGCATT 0.602000 43 14 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280647 152280647 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152280647G>A uc001ezu.1 - 2 6751 c.6715C>T c.(6715-6717)Cgg>Tgg p.R2239W NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2239 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) CTGGATCCCCGGGGCCTGCTT 0.577000 Ichthyosis 596 41 0 0 1 0 0 C3orf19 51244 broad.mit.edu 37 3 14712409 14712409 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:14712409C>T uc003byw.3 + 10 1203 c.1112C>T c.(1111-1113)tCc>tTc p.S371F C3orf19_uc010hej.3_Missense_Mutation_p.S200F NM_016474 NP_057558 Q6PII3 CC019_HUMAN Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA. 371 endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 14 CCAGAATTTTCCTTTGGATAC 0.368000 49 7 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39611933 39611933 + Silent SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:39611933A>T uc003thc.4 + 2 324 c.309A>T c.(307-309)atA>atT p.I103I NM_020192 NP_064577 Q9NRH1 CG036_HUMAN Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA. 103 TCAATAAAATAAACAATCTTC 0.368000 51 9 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261343 16261343 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:16261343G>A uc001axk.1 + 10 8812 c.8608G>A c.(8608-8610)Ggc>Agc p.G2870S SPEN_uc010obp.1_Missense_Mutation_p.G2829S NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2870 Interaction with RBPSUH (By similarity). Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCATCCAAAGGCCCTCAAGC 0.542000 41 9 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537550 55537550 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:55537550C>T uc003xsd.1 + 3 1256 c.1108C>T c.(1108-1110)Cca>Tca p.P370S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 370 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.F369I(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GATGAGTTTTCCAGGAAGAAC 0.398000 47 23 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110389 98110389 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:98110389G>A uc011bgw.2 + 0 880 c.880G>A c.(880-882)Gaa>Aaa p.E294K NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 AAGAAATAAGGAAGTAATAAA 0.264000 45 19 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26346369 26346369 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:26346369C>T uc003abz.1 + 36 6035 c.5785C>T c.(5785-5787)Ctg>Ttg p.L1929L MYO18B_uc003aca.1_Silent_p.L1810L|MYO18B_uc010guy.1_Silent_p.L1811L|MYO18B_uc010guz.1_Silent_p.L1809L|MYO18B_uc011aka.1_Silent_p.L1083L|MYO18B_uc011akb.1_Silent_p.L1442L NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1929 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGAACTGCAGCTGCAGCTGGA 0.458000 7 5 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19455411 19455411 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:19455411G>A uc002dgc.4 + 3 1546 c.797G>A c.(796-798)aGc>aAc p.S266N TMC5_uc010vaq.2_Missense_Mutation_p.S266N|TMC5_uc002dgb.4_Missense_Mutation_p.S266N|TMC5_uc010var.2_Missense_Mutation_p.S266N NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 266 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGGGTGCTCAGCAGAACATCT 0.453000 70 23 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562535 73562536 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:73562535_73562536CC>TT uc002avm.4 + 16 2871_2872 c.2679_2680CC>TT c.(2677-2682)gtccga>gtTTga p.R894* NEO1_uc010ukx.2_Nonsense_Mutation_p.R894*|NEO1_uc010uky.2_Nonsense_Mutation_p.R894*|NEO1_uc002avn.4_Nonsense_Mutation_p.R898*|NEO1_uc010ukz.2_Nonsense_Mutation_p.R318* NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 894 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ACTACACCGTCCGATGGAAAAC 0.450000 74 27 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254841 51254841 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:51254841A>C uc021vhh.1 - 0 1492 c.571T>G c.(571-573)Tcc>Gcc p.S191A NRXN1_uc021vhg.1_Missense_Mutation_p.S191A|NRXN1_uc021vhi.1_Missense_Mutation_p.S191A|NRXN1_uc021vhj.1_Missense_Mutation_p.S191A|NRXN1_uc021vhk.1_Missense_Mutation_p.S191A NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 191 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACCTGCGAGGAGTTGACCCTC 0.716000 14 3 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882494 167882494 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:167882494C>T uc003lzu.3 + 18 2885 c.2792C>T c.(2791-2793)tCc>tTc p.S931F WWC1_uc003lzv.3_Missense_Mutation_p.S931F|WWC1_uc011den.2_Missense_Mutation_p.S931F|WWC1_uc003lzw.3_Missense_Mutation_p.S730F|WWC1_uc010jjf.1_Missense_Mutation_p.S203F NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 931 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity p.F930S(1) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AAGACCTTCTCCCCAGGACCC 0.642000 151 25 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112298 248112298 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248112298C>T uc001idt.1 + 0 139 c.139C>T c.(139-141)Ctc>Ttc p.L47F OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATGATTCTTCTCATCTTCTT 0.413000 583 92 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765571 113765571 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:113765571G>A uc010yxr.2 + 3 427 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 143 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CCTTACCCAAGAACTGGGGAA 0.498000 58 27 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48421035 48421035 + Missense_Mutation SNP G A A rs137962592 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:48421035G>A uc003csr.3 + 6 947 c.761G>A c.(760-762)cGt>cAt p.R254H FBXW12_uc010hjv.3_Missense_Mutation_p.R235H|FBXW12_uc003css.3_Missense_Mutation_p.R184H|FBXW12_uc010hjw.3_Missense_Mutation_p.R153H|Metazoa_SRP_uc021wxm.1_5'Flank NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA. 254 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACATACAGTCGTACCTTGCCA 0.418000 173 15 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60754833 60754833 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:60754833C>T uc002jad.3 + 11 2440 c.2038C>T c.(2038-2040)Cgg>Tgg p.R680W MRC2_uc010ddq.1_Non-coding_Transcript NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 680 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CACCAAACTCCGGTATTGCTA 0.662000 23 3 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35013211 35013211 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:35013211G>A uc003tem.4 - 7 755 c.610C>T c.(610-612)Cgt>Tgt p.R204C NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA. 204 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 CACATTACACGGGTACACTGA 0.303000 32 5 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602855 37602855 + Silent SNP C T T rs141312847 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:37602855C>T uc002yvg.3 + 13 1852 c.1773C>T c.(1771-1773)atC>atT p.I591I DOPEY2_uc011aeb.2_Silent_p.I591I NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 591 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACAGTGGGATCGGGCTCAGTG 0.522000 94 56 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3301182 3301182 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:3301182G>A uc002fvj.1 - 0 523 c.523C>T c.(523-525)Ccc>Tcc p.P175S NM_003553 NP_003544 P30953 OR1E1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA. 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 AAAAAGTGGGGGATCACATTG 0.493000 27 13 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459984 107459984 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:107459984G>A uc002tdq.3 - 1 569 c.450C>T c.(448-450)ttC>ttT p.F150F ST6GAL2_uc002tdr.3_Silent_p.F150F|ST6GAL2_uc002tds.3_Silent_p.F150F NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 150 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.F150L(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGGGGGAAGGGAATCCCAATG 0.612000 155 85 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438571 6438571 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:6438571G>A uc001qnu.3 - 9 1578 c.1275C>T c.(1273-1275)ctC>ctT p.L425L TNFRSF1A_uc001qnt.3_Silent_p.L317L|TNFRSF1A_uc010sey.2_Silent_p.L193L|TNFRSF1A_uc010sez.2_Silent_p.L317L|TNFRSF1A_uc009zek.3_Silent_p.L382L NM_001065 NP_001056 P19438 TNR1A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA. 425 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCATGTCGCGGAGCACGCGTC 0.736000 3 3 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894589 166894589 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:166894589C>T uc002udo.4 - 16 2870 c.2643G>A c.(2641-2643)aaG>aaA p.K881K SCN1A_uc010fpk.3_Silent_p.K853K|SCN1A_uc021vsb.1_Silent_p.K870K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 881 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G880E(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCCGATGATCTTTATTAGCA 0.398000 65 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 47 27 0 0 1 0 0 TMEM163 81615 broad.mit.edu 37 2 135470881 135470881 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:135470881C>T uc002ttx.3 - 1 277 c.211G>A c.(211-213)Gaa>Aaa p.E71K TMEM163_uc002tty.3_Non-coding_Transcript NM_030923 NP_112185 Q8TC26 TM163_HUMAN Homo sapiens transmembrane protein 163 (TMEM163), mRNA. 71 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) GTGCTGCTTTCTAGTAAGCCT 0.483000 74 33 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885163 88885163 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:88885163C>T uc003ydz.3 - 0 1134 c.1037G>A c.(1036-1038)gGc>gAc p.G346D NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 346 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGCAGGTGGCCATGACGGAG 0.607000 48 59 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 154003486 154003486 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:154003486G>A uc004fmm.3 + 12 1486 c.1276G>A c.(1276-1278)Gag>Aag p.E426K DKC1_uc010nvf.3_Missense_Mutation_p.E421K NM_001363 NP_001354 O60832 DKC1_HUMAN Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. 426 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex RNA binding|protein binding|pseudouridine synthase activity|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCCAAAAAAGAGGTGGTTGC 0.468000 Congenital Dyskeratosis 89 52 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58084492 58084492 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58084492C>T uc003djj.2 + 7 1367 c.1202C>T c.(1201-1203)aCc>aTc p.T401I FLNB_uc010hne.2_Missense_Mutation_p.T401I|FLNB_uc003djk.2_Missense_Mutation_p.T401I|FLNB_uc010hnf.2_Missense_Mutation_p.T401I|FLNB_uc003djl.2_Missense_Mutation_p.T232I|FLNB_uc003djm.2_Missense_Mutation_p.T232I NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 401 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGAAGAACACCGTGGAGTTG 0.532000 73 30 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34119268 34119268 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:34119268G>A uc001mvh.1 + 17 2214 c.2025G>A c.(2023-2025)aaG>aaA p.K675K CAPRIN1_uc001mvg.3_Silent_p.K675K|CAPRIN1_uc001mvi.2_Silent_p.K675K|CAPRIN1_uc001mvj.1_Silent_p.K594K NM_005898 NP_005889 Q14444 CAPR1_HUMAN Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA. 675 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule RNA binding|protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) AGAATTTCAAGCGAGGCTCTG 0.443000 88 42 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848650 73848650 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:73848650T>A uc003xzb.3 + 2 1648 c.1060T>A c.(1060-1062)Ttt>Att p.F354I NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 354 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAGCCTGGTATTTTTTGCTGA 0.463000 220 25 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314158 58314158 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:58314158G>A uc002enf.3 - 6 1553 c.1158C>T c.(1156-1158)ttC>ttT p.F386F PRSS54_uc002eng.3_Silent_p.F386F|PRSS54_uc010vie.2_Silent_p.F287F|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 386 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAACAAGCACGAAGGAAACCA 0.468000 57 7 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84249096 84249096 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:84249096G>A uc004alz.3 - 6 964 c.523C>T c.(523-525)Ctt>Ttt p.L175F TLE1_uc004aly.3_Missense_Mutation_p.L165F|TLE1_uc011lsr.2_Missense_Mutation_p.L165F|TLE1_uc004ama.1_Missense_Mutation_p.L165F|TLE1_uc011lss.1_Intron NM_005077 NP_005068 Q04724 TLE1_HUMAN Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA. 165 Gly/Pro-rich. Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GACAGCGCAAGAAGGCCGGCA 0.602000 7 4 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38640851 38640851 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38640851C>A uc010cxb.3 - 5 1550 c.1386G>T c.(1384-1386)ctG>ctT p.L462L NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 462 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding p.E461K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCTTCCTCAGCAGCTCGATTG 0.592000 61 20 9.95505e-16 1.0228e-15 1 1 0 SYTL4 94121 broad.mit.edu 37 X 99956599 99956599 + Missense_Mutation SNP G A A rs151147513 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:99956599G>A uc004egd.4 - 4 537 c.181C>T c.(181-183)Cgg>Tgg p.R61W SYTL4_uc010nnc.3_Missense_Mutation_p.R61W|SYTL4_uc004ege.4_Missense_Mutation_p.R61W|SYTL4_uc004egf.4_Missense_Mutation_p.R61W|SYTL4_uc004egg.4_Missense_Mutation_p.R61W NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 61 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCACAGGTCCGATCACTGTAG 0.537000 134 46 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602772 96602772 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:96602772C>T uc010qnz.2 + 6 1140 c.1140C>T c.(1138-1140)ctC>ctT p.L380L CYP2C19_uc010qny.2_Silent_p.L358L NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 380 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) GAAACTACCTCATTCCCAAGG 0.468000 64 16 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197081790 197081790 + Missense_Mutation SNP C A A rs143511416 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:197081790C>A uc002utm.1 - 26 4619 c.4436G>T c.(4435-4437)cGg>cTg p.R1479L HECW2_uc002utl.1_Missense_Mutation_p.R1123L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1479 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.I1478V(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCAGAACCACCGAATTACAAT 0.358000 78 24 1.85244e-09 1.89195e-09 1 1 0 OR8S1 341568 broad.mit.edu 37 12 48920040 48920040 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:48920040G>A uc010slu.2 + 0 626 c.626G>A c.(625-627)gGa>gAa p.G209E NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CATGGGCTGGGAAACTTCCTT 0.522000 47 23 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175704 79175704 + Missense_Mutation SNP G C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:79175704G>C uc001vkv.3 - 1 1340 c.1106C>G c.(1105-1107)tCc>tGc p.S369C BX647243_uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA. 369 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GGCCTCGAGGGAGCGCTTCTC 0.652000 84 10 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026933 37026933 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:37026933G>A uc004ddl.2 + 0 502 c.450G>A c.(448-450)ctG>ctA p.L150L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 150 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TACAGGTACTGAAACCGCTGG 0.557000 76 27 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84255852 84255852 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:84255852C>T uc010voc.2 - 2 1652 c.1531G>A c.(1531-1533)Ggc>Agc p.G511S NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 511 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 AAGGCTGGGCCCTCCAGGATT 0.542000 113 55 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13186432 13186432 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:13186432C>T uc010xmx.2 + 5 979 c.926C>T c.(925-927)tCc>tTc p.S309F NFIX_uc002mwd.3_Missense_Mutation_p.S301F|NFIX_uc002mwe.3_Missense_Mutation_p.S293F|NFIX_uc002mwf.3_Missense_Mutation_p.S304F|NFIX_uc002mwg.2_Missense_Mutation_p.S300F Q14938 NFIX_HUMAN Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA. 301 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) ACAGGCCGTTCCCCAGCAGCT 0.617000 27 7 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542545 12542545 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:12542545C>T uc002mtu.3 - 3 639 c.441G>A c.(439-441)ggG>ggA p.G147G NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN Homo sapiens zinc finger protein 443 (ZNF443), mRNA. 147 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TGAAGGCTTTCCCACGTTGTT 0.418000 81 45 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949552 7949552 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:7949552G>A uc010rbh.2 - 0 658 c.658C>T c.(658-660)Cga>Tga p.R220* NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R220*(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACAGAACTCGAATGTAAGAC 0.433000 44 26 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111935541 111935541 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:111935541C>T uc001vrs.2 + 16 2094 c.1844C>T c.(1843-1845)cCg>cTg p.P615L ARHGEF7_uc001vrr.2_Missense_Mutation_p.P594L|ARHGEF7_uc001vrt.2_Missense_Mutation_p.P565L|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.P437L|ARHGEF7_uc001vrw.4_Missense_Mutation_p.P437L|ARHGEF7_uc001vrx.4_Missense_Mutation_p.P437L|ARHGEF7_uc010tjo.2_Missense_Mutation_p.P512L|ARHGEF7_uc010tjp.1_Missense_Mutation_p.P359L|ARHGEF7_uc001vry.1_Missense_Mutation_p.P31L|AX748212_uc001vrz.1_5'Flank NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 615 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AAGCCCGCGCCGCTGACGCCC 0.682000 6 3 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20153262 20153262 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:20153262C>T uc003cbq.3 + 5 1472 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 342 N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GAACTCTAATCCTCACTCATT 0.423000 36 12 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098546 143098546 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:143098546G>A uc003wcz.3 - 2 390 c.303C>T c.(301-303)ttC>ttT p.F101F NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 101 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCCGCACGGTGAACTGCAGCT 0.612000 184 80 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437956 125437956 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:125437956C>T uc011lzb.2 + 0 548 c.548C>T c.(547-549)cCt>cTt p.P183L NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 GATGTCAACCCTGTGCTGAAA 0.448000 232 21 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103053675 103053675 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:103053675G>A uc002tbx.3 + 5 1067 c.583G>A c.(583-585)Gga>Aga p.G195R IL18RAP_uc010fiz.3_Missense_Mutation_p.G53R NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 195 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGATTAGAATGGAAAACTCCT 0.358000 52 17 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700594 44700594 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:44700594G>A uc003cnq.3 + 3 960 c.739G>A c.(739-741)Gag>Aag p.E247K ZNF35_uc003cnr.3_Missense_Mutation_p.E87K NM_003420 NP_003411 P13682 ZNF35_HUMAN Homo sapiens zinc finger protein 35 (ZNF35), mRNA. 247 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCACACTGGAGAGAAACCCTT 0.463000 78 29 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 66001661 66001661 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:66001661C>T uc001oha.2 + 16 2186 c.2052C>T c.(2050-2052)ttC>ttT p.F684F PACS1_uc010rou.2_Silent_p.F220F NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 684 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 GTAGTTCCTTCCTGGATTCTG 0.537000 116 45 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115078973 115078973 + RNA SNP C T T rs148880169 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:115078973C>T uc001eez.3 - 28 c.4670G>A NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) ACCTGAGATCCGAACTGGGCT 0.522000 41 9 0 0 1 0 0 C5orf25 375484 broad.mit.edu 37 5 175716691 175716691 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:175716691G>A uc003mds.4 + 3 514 c.107G>A c.(106-108)aGg>aAg p.R36K C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R55K|C5orf25_uc003mdu.1_5'UTR Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 36 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) ACCAGACCAAGGACAAAAGAT 0.413000 23 6 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083068 1083068 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:1083068G>A uc001lsx.1 + 15 1995 c.1968G>A c.(1966-1968)aaG>aaA p.K656K NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 656 inner mucus layer|outer mucus layer protein binding p.N655Y(1) 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) CTGCAGACAAGGATGTGGGCT 0.667000 11 5 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506687 37506687 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:37506687G>A uc021ppc.1 + 32 3079 c.2980G>A c.(2980-2982)Gaa>Aaa p.E994K ANKRD30A_uc001iza.1_Missense_Mutation_p.E994K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1050 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAAATTAGGGAAGAATTAGG 0.318000 37 14 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263943 34263944 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:34263943_34263944CC>TT uc002nus.4 + 4 1755_1756 c.1250_1251CC>TT c.(1249-1251)tcc>tTT p.S417F CHST8_uc002nut.4_Missense_Mutation_p.S417F|CHST8_uc002nuu.3_Missense_Mutation_p.S417F NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 417 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) TTCAACTATTCCAAGCCCTTTG 0.619000 24 13 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21201746 21201746 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:21201746A>G uc002gys.3 + 1 336 c.71A>G c.(70-72)gAt>gGt p.D24G MAP2K3_uc002gyt.3_5'UTR|MAP2K3_uc021tsq.1_5'UTR|MAP2K3_uc021tsr.1_5'UTR NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 24 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AGGAAGAAGGATCTACGGATA 0.572000 261 46 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674371 71674371 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:71674371G>A uc002fau.3 + 2 737 c.674G>A c.(673-675)gGa>gAa p.G225E PHLPP2_uc002fav.3_Intron|MARVELD3_uc010cge.3_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA. 225 MARVEL. integral to membrane p.A224A(1) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GTCCTTGCCGGATTCAGTGCC 0.557000 63 24 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130476083 130476083 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:130476083C>T uc003qbw.3 - 8 1238 c.910G>A c.(910-912)Gaa>Aaa p.E304K SAMD3_uc003qbx.3_Missense_Mutation_p.E304K NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 304 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTGTCAATTTCTCTCCAGTCC 0.373000 37 26 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400231 89400231 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:89400231C>T uc010upo.1 + 11 4789 c.4415C>T c.(4414-4416)tCt>tTt p.S1472F ACAN_uc010upp.1_Missense_Mutation_p.S1472F|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1472 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) GGACTTCCTTCTGGAGGAGAA 0.517000 122 50 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586066 20586066 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20586066G>A uc001vwo.1 + 0 501 c.501G>A c.(499-501)atG>atA p.M167I NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGACCATCATGAACAAGAAGG 0.458000 52 11 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78130913 78130913 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:78130913C>T uc003ugx.3 - 4 1200 c.946G>A c.(946-948)Ggc>Agc p.G316S MAGI2_uc003ugy.3_Missense_Mutation_p.G316S|MAGI2_uc011kgr.1_Missense_Mutation_p.G148S|MAGI2_uc011kgs.1_Missense_Mutation_p.G153S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 316 Interaction with DDN.|WW 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAGACTTCGCCCTTCTCTGTA 0.433000 59 32 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086245 175086245 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:175086245C>T uc001gkl.1 + 9 2403 c.2290C>T c.(2290-2292)Ctg>Ttg p.L764L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 764 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TAGCACTGTCCTGACGGGCCT 0.637000 104 31 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723898 99723898 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:99723898C>T uc001yga.3 - 1 604 c.337G>A c.(337-339)Gtg>Atg p.V113M BCL11B_uc001ygb.3_Missense_Mutation_p.V113M NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 113 nucleus zinc ion binding p.P112L(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCGATCTCCACCGGCTCGGAC 0.612000 T TLX3 T-ALL 82 9 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89655160 89655160 + Silent SNP G A A rs149655987 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:89655160G>A uc002fnp.3 + 11 1360 c.1230G>A c.(1228-1230)ccG>ccA p.P410P CPNE7_uc002fnq.3_Silent_p.P335P NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA. 410 VWFA. lipid metabolic process transporter activity p.P410Q(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCTACCAGCCGAACGAGTACC 0.637000 34 7 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291004 141291004 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:141291004C>T uc022cfj.1 - 0 770 c.770G>A c.(769-771)gGg>gAg p.G257E MAGEC2_uc004fbu.2_Missense_Mutation_p.G257E NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 257 MAGE. cytoplasm|nucleus p.G257G(1) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) AGCATATACCCCTACTGCATT 0.527000 HNSCC(46;0.14) 200 39 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643310 31643311 + Missense_Mutation DNP GG AA AA rs149497264 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:31643310_31643311GG>AA uc002wym.1 + 0 81_82 c.81_82GG>AA c.(79-84)acggtg>acAAtg p.V28M NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 28 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding TGCTAGAGACGGTGGGCACGCT 0.599000 61 34 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282176 168282176 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:168282176C>T uc001gfl.3 + 7 1334 c.1283C>T c.(1282-1284)cCc>cTc p.P428L TBX19_uc001gfj.4_Missense_Mutation_p.P296L|TBX19_uc001gfm.3_Missense_Mutation_p.P131L NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 428 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) GCCTCGCATCCCTTCGCGGGC 0.622000 112 6 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160138668 160138668 + Silent SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:160138668A>C uc003fdh.3 + 12 2111 c.1998A>C c.(1996-1998)gcA>gcC p.A666A IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Silent_p.A430A|SMC4_uc003fdi.3_Silent_p.A641A|SMC4_uc003fdj.3_Silent_p.A666A|SMC4_uc010hwd.3_Silent_p.A666A|SMC4_uc003fdl.3_Silent_p.A369A NM_001002800 NP_005487 Q9NTJ3 SMC4_HUMAN Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA. 666 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTGGAGTTGCAACCTTTATAG 0.363000 24 19 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180432752 180432752 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:180432752C>T uc003mmr.3 + 7 1465 c.1281C>T c.(1279-1281)tcC>tcT p.S427S BTNL3_uc010jlp.3_Silent_p.S212S NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 427 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) ATGACCAGTCCCTTATTTATA 0.483000 60 11 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646267 71646267 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:71646267A>T uc003xyq.3 + 4 1264 c.730A>T c.(730-732)Ata>Tta p.I244L XKR9_uc010lzd.3_Missense_Mutation_p.I112L|XKR9_uc010lze.3_Missense_Mutation_p.I244L NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 244 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) GTTAGGTATAATATGGGCATT 0.279000 65 16 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241099944 241099944 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:241099944G>A uc001hyv.2 - 4 619 c.289C>T c.(289-291)Cat>Tat p.H97Y RGS7_uc010pyh.2_Missense_Mutation_p.H71Y|RGS7_uc010pyj.1_Missense_Mutation_p.H13Y|RGS7_uc001hyu.2_Missense_Mutation_p.H97Y|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H97Y NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 97 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGAGGACATGATCTGAGATT 0.398000 78 51 0 0 1 0 0 CD28 940 broad.mit.edu 37 2 204594378 204594378 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:204594378C>T uc002vah.4 + 2 639 c.417C>T c.(415-417)caC>caT p.H139H CD28_uc010zio.2_Silent_p.H42H|CD28_uc010ftx.3_Silent_p.H20H|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript NM_006139 NP_006130 P10747 CD28_HUMAN Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA. 139 T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane SH3/SH2 adaptor activity|coreceptor activity|protease binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CAGGGAAACACCTTTGTCCAA 0.433000 100 51 0 0 1 0 0 ASPN 54829 broad.mit.edu 37 9 95219762 95219762 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:95219762G>A uc004ase.2 - 7 1251 c.951C>T c.(949-951)atC>atT p.I317I CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Missense_Mutation_p.L240F NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN Homo sapiens asporin (ASPN), transcript variant 1, mRNA. 317 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 AATGAAGGAAGATTATCTGTT 0.338000 30 5 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27441414 27441414 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:27441414C>T uc002dor.2 + 2 636 c.88C>T c.(88-90)Ccc>Tcc p.P30S IL21R_uc002doq.2_Missense_Mutation_p.P8S|IL21R_uc002dos.2_Missense_Mutation_p.P8S NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 8 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CTGGGCCGCCCCCTTGCTCCT 0.721000 T BCL6 NHL 22 6 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539567 56539567 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:56539567C>T uc002qmj.3 + 6 1968 c.1968C>T c.(1966-1968)ccC>ccT p.P656P NLRP5_uc002qmi.3_Silent_p.P637P NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 656 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGGGCTGTCCCGTTCCCCTGG 0.592000 77 14 0 0 1 0 0 RAB40AL 282808 broad.mit.edu 37 X 102193023 102193023 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:102193023C>T uc004ejs.3 + 0 824 c.777C>T c.(775-777)atC>atT p.I259I NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA. 259 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 AAGTGAAGATCGTCTGCCCAC 0.537000 117 45 0 0 1 0 0 MEIG1 644890 broad.mit.edu 37 10 15008489 15008489 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:15008489C>T uc009xjk.1 + 1 170 c.22C>T c.(22-24)Cca>Tca p.P8S DCLRE1C_uc021pni.1_Intron NM_001080836 NP_001074305 Q5JSS6 MEIG1_HUMAN Homo sapiens meiosis expressed gene 1 homolog (mouse) (MEIG1), mRNA. 8 kidney(1)|ovary(1)|prostate(1) 3 TGACGTAAAACCAAAATCAGT 0.328000 30 12 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036794 153036794 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:153036794C>T uc010nuk.2 + 13 2623 c.2352C>T c.(2350-2352)ctC>ctT p.L784L PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.L443L|PLXNB3_uc004fii.2_Silent_p.L761L|PLXNB3_uc011mzd.1_Silent_p.L400L NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 761 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGCGGGAGCTCCCAGTGCCCA 0.632000 58 24 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182826 6182826 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:6182826G>T uc002mef.1 + 8 1198 c.971G>T c.(970-972)tGg>tTg p.W324L ACSBG2_uc002mee.1_Missense_Mutation_p.W137L|ACSBG2_uc002meg.1_Missense_Mutation_p.W324L|ACSBG2_uc002meh.1_Missense_Mutation_p.W324L|ACSBG2_uc002mei.1_Missense_Mutation_p.W274L|ACSBG2_uc010xiz.1_Missense_Mutation_p.W324L NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 324 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCAAATTTGGGAGAAGATA 0.463000 38 12 0.000151284 0.000152167 1 1 0 COL2A1 1280 broad.mit.edu 37 12 48372385 48372385 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:48372385G>A uc001rqu.3 - 41 3071 c.2890C>T c.(2890-2892)Ccc>Tcc p.P964S COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P895S NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 964 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 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) CTTACAGAGGGACCGTCATCT 0.667000 26 13 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47065744 47065744 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:47065744C>T uc004dhj.4 + 15 1990 c.1839C>T c.(1837-1839)ttC>ttT p.F613F UBA1_uc004dhk.4_Silent_p.F613F|UBA1_uc004dhm.3_5'Flank NM_153280 NP_695012 P22314 UBA1_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA. 613 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGATCCCCTTCCTGACAGAGT 0.577000 23 14 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293208 33293208 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:33293208C>T uc001wrq.3 + 12 6359 c.6189C>T c.(6187-6189)atC>atT p.I2063I NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 2063 PKA-RII subunit binding domain. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTAAGGAAATCATTGACATGG 0.408000 48 26 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133644 22133644 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22133644C>T uc010tmd.2 + 0 348 c.348C>T c.(346-348)atC>atT p.I116I NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTCTGCTGATCATTGTGGCGT 0.453000 138 36 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35707199 35707199 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:35707199C>T uc003tes.4 - 5 999 c.340_splice c.e5-1 p.S114_splice HERPUD2_uc003tet.3_Splice_Site_p.S114_splice NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN Homo sapiens HERPUD family member 2 (HERPUD2), mRNA. 114 Ser-rich. response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 GATCTGAACTCTACAAATAAA 0.358000 72 6 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92861654 92861654 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:92861654G>A uc003umo.3 + 1 1 c.-127_splice c.e1-1 CCDC132_uc003ump.3_Splice_Site|CCDC132_uc003umr.3_Splice_Site|CCDC132_uc011khz.2_Splice_Site|CCDC132_uc003umn.3_Splice_Site NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GGGAAAGACAGGATACCCTGG 0.572000 17 4 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90673167 90673167 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:90673167C>T uc001kfk.3 + 5 1153 c.730C>T c.(730-732)Cct>Tct p.P244S STAMBPL1_uc010qmx.1_Missense_Mutation_p.P244S|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.P244S|STAMBPL1_uc001kfn.3_Missense_Mutation_p.P78S NM_020799 NP_065850 Q96FJ0 STALP_HUMAN Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA. 244 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) CCACTCTCCTCCTGTAAACAG 0.453000 49 47 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103380274 103380274 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:103380274G>A uc001dum.3 - 50 4264 c.3946C>T c.(3946-3948)Cct>Tct p.P1316S COL11A1_uc001duk.3_Missense_Mutation_p.P500S|COL11A1_uc001dul.3_Missense_Mutation_p.P1304S|COL11A1_uc001dun.3_Missense_Mutation_p.P1265S|COL11A1_uc009weh.3_Missense_Mutation_p.P1188S NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1304 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) TTACCCTTAGGGCCATCATCA 0.512000 25 3 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594470 148594470 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:148594470C>T uc001esb.2 + 21 3005 c.1843C>T c.(1843-1845)Ccg>Tcg p.P615S NBPF15_uc001esc.2_Missense_Mutation_p.P615S NM_001170755 NP_775909 Q8N660 NBPFF_HUMAN Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA. 615 NBPF 6. P -> Q (in dbSNP:rs6695216). cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) TTATTCGACTCCGTCAATGTA 0.448000 344 326 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71977842 71977842 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:71977842C>T uc001swl.3 + 17 2100 c.2052C>T c.(2050-2052)atC>atT p.I684I LGR5_uc001swm.3_Silent_p.I660I|LGR5_uc021rar.1_Silent_p.I612I|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 684 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGAAAGTAATCATTTTGCTCT 0.522000 179 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640361 179640361 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179640361G>A uc021vsy.1 - 27 6455 c.6230C>T c.(6229-6231)gCt>gTt p.A2077V TTN_uc021vsz.1_Missense_Mutation_p.A2031V|TTN_uc021vta.1_Missense_Mutation_p.A2031V|TTN_uc021vtb.1_Missense_Mutation_p.A2031V|TTN_uc002unb.2_Missense_Mutation_p.A2077V|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2077 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) GATTTTTGGAGCCTCCATACT 0.458000 58 31 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819244 43819245 + Missense_Mutation DNP CC TT TT rs145090986 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:43819244_43819245CC>TT uc001zrt.3 + 3 6040_6041 c.5573_5574CC>TT c.(5572-5574)tcc>tTT p.S1858F NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1858 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.S1858S(2) 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) GCACCCCTCTCCCCAGCTCCTG 0.629000 21 18 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 58001184 58001184 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:58001184C>T uc002emt.2 - 1 72 c.7G>A c.(7-9)Ggc>Agc p.G3S CNGB1_uc010cdh.2_Missense_Mutation_p.G3S|CNGB1_uc002emu.2_Missense_Mutation_p.G3S NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 3 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TGGACCCAGCCCAACATCCTG 0.582000 38 5 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104579460 104579461 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:104579460_104579461GG>AA uc003hxe.1 - 1 789_790 c.648_649CC>TT c.(646-651)ttccct>ttTTct p.P217S NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 217 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) AGACACTGAGGGAAGGCAAGTA 0.426000 68 27 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71384103 71384103 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:71384103C>T uc010dfm.3 - 29 4266 c.4266G>A c.(4264-4266)tgG>tgA p.W1422* SDK2_uc002jjt.4_Nonsense_Mutation_p.W581*|SDK2_uc010dfn.2_Nonsense_Mutation_p.W1101* NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1422 Fibronectin type-III 9. 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 TCCCTGGCTCCCAGGACAGCA 0.701000 4 2 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1243537 1243537 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:1243537C>T uc002qwq.3 + 10 1006 c.877C>T c.(877-879)Cct>Tct p.P293S SNTG2_uc010ewi.3_Missense_Mutation_p.P166S NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 293 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATGCTGCTCTCCTTCCGACCA 0.478000 10 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100393 168100393 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168100393G>A uc002udx.3 + 8 2580 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 656 actin cytoskeleton organization cell junction actin binding p.E831K(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGAAAAGGAAAAAATAAT 0.388000 68 26 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71650107 71650107 + Missense_Mutation SNP A C C rs144082774 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:71650107A>C uc002shx.3 + 21 3786 c.3463A>C c.(3463-3465)Aca>Cca p.T1155P ZNF638_uc010yqw.1_Missense_Mutation_p.T734P|ZNF638_uc002shz.3_Missense_Mutation_p.T1155P|ZNF638_uc002shy.3_Missense_Mutation_p.T1155P|ZNF638_uc002sia.3_Missense_Mutation_p.T1155P|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.T252P|ZNF638_uc002sid.3_Intron NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 1155 Glu-rich. RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding p.A1154fs*28(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGAAAAAGCAACATGTGATTC 0.413000 101 45 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150352 247150352 + Missense_Mutation SNP C G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:247150352C>G uc009xgu.3 - 3 1650 c.1465G>C c.(1465-1467)Gag>Cag p.E489Q ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 489 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TATGGTTTCTCTCTGGTATGA 0.413000 58 33 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59934624 59934624 + Missense_Mutation SNP T G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:59934624T>G uc003jsh.3 - 6 924 c.851A>C c.(850-852)gAg>gCg p.E284A DEPDC1B_uc011cqm.2_Missense_Mutation_p.E284A|DEPDC1B_uc011cqn.2_Missense_Mutation_p.E257A NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA. 284 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) AAGTAGAGGCTCTTTCAAGTG 0.348000 53 9 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393182 164393182 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:164393182C>T uc003iqp.4 - 0 1866 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 569 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGCCACCTTCCCTGTAGTGA 0.532000 101 45 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106678 14106678 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:14106678C>T uc001avi.3 + 7 3244 c.2388C>T c.(2386-2388)agC>agT p.S796S PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.S796S|PRDM2_uc021ogk.1_Silent_p.S559S|PRDM2_uc001avk.3_Silent_p.S595S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 796 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S796I(2) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAACTGTGAGCCCTCCATGCT 0.473000 38 25 0 0 1 0 0 RPS27 6232 broad.mit.edu 37 1 153963240 153963240 + Splice_Site SNP T G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:153963240T>G uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTTCGCTCCTTTCCGGCGGT 0.537000 100 18 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553689 19553689 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:19553689G>A uc001vuz.1 + 0 325 c.273G>A c.(271-273)atG>atA p.M91I POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 91 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 ACTCTGCTATGAAGACACTCA 0.622000 497 28 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21328842 21328842 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:21328842T>C uc002ztj.2 + 6 757 c.539T>C c.(538-540)gTg>gCg p.V180A LZTR1_uc002ztk.2_Missense_Mutation_p.V180A|LZTR1_uc002ztl.2_Missense_Mutation_p.V186A|LZTR1_uc011ahx.1_Missense_Mutation_p.V168A NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGGACCAAGGTGATGGCCAAG 0.607000 47 4 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820439 35820439 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35820439C>T uc010ngt.1 + 1 405 c.126C>T c.(124-126)tcC>tcT p.S42S MAGEB16_uc022bus.1_Silent_p.S42S NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA. 42 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTCCTCCTCCCATCCTCTAG 0.552000 22 21 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40661935 40661935 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:40661935C>T uc001zlk.1 + 7 3711 c.3622C>T c.(3622-3624)Cca>Tca p.P1208S NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 1208 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TTCCCGGCCCCCACCAGCCCC 0.647000 68 30 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22293953 22293953 + Silent SNP G A A rs145164516 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22293953G>A uc001wbw.2 + 1 66 c.57G>A c.(55-57)ggG>ggA p.G19G TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript SubName: Full=Alpha-chain C region; Flags: Fragment; GAATAGGGGGGAATGGCAAAA 0.443000 31 12 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058429 95058429 + Silent SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:95058429G>T uc001ydm.2 + 5 1284 c.1074G>T c.(1072-1074)tcG>tcT p.S358S SERPINA3_uc001ydo.4_5'UTR NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 358 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGGACGAGTCGGGAACCAGAG 0.572000 248 31 2.08457e-15 2.13916e-15 1 1 0 ABCA5 23461 broad.mit.edu 37 17 67305454 67305454 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:67305454G>A uc002jif.2 - 2 1636 c.418C>T c.(418-420)Cgt>Tgt p.R140C ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 140 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GGAAAAAAACGAAGTTCATAG 0.328000 47 14 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31489165 31489165 + Silent SNP G A A rs148671842 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:31489165G>A uc002rnu.3 + 5 1811 c.1203G>A c.(1201-1203)gaG>gaA p.E401E EHD3_uc010ymt.2_3'UTR NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 401 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GCCAGGAGGAGTCACAGCGGC 0.622000 59 4 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141636 114141636 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:114141636C>T uc004epu.1 + 5 1763 c.1035C>T c.(1033-1035)ctC>ctT p.L345L HTR2C_uc010nqc.1_Silent_p.L345L|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 345 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCAAAAGCTCATGGAAAAGC 0.383000 139 85 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318349 48318349 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:48318349G>A uc003toq.2 + 17 7582 c.7558G>A c.(7558-7560)Gac>Aac p.D2520N ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2520 transport integral to membrane ATP binding|ATPase activity p.D2465Y(2)|p.D2520Y(2) 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 CACATCAATGGACTCCATTGT 0.428000 173 85 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826148 43826148 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:43826148C>T uc010skx.2 - 20 3055 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K ADAMTS20_uc001rno.1_Missense_Mutation_p.E173K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E173K NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1019 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGGAAAATTCATTGCAATTC 0.403000 36 10 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155180844 155180844 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:155180844G>A uc003inw.2 - 19 5277 c.5277C>T c.(5275-5277)atC>atT p.I1759I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1759 Cadherin 15. 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) CAGCTAAAACGATGAGTTGAA 0.358000 56 33 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117655959 117655959 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:117655959C>T uc001twn.2 - 28 4994 c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q NOS1_uc021ren.1_Missense_Mutation_p.R1058Q|NOS1_uc021reo.1_Missense_Mutation_p.R1058Q|NOS1_uc001twm.2_Missense_Mutation_p.R1394Q NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1394 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.T1428T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCATGGTATCGGTTGTCATC 0.473000 199 71 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373155 126373155 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:126373155C>T uc003ifj.4 + 8 10984 c.10984C>T c.(10984-10986)Cca>Tca p.P3662S FAT4_uc011cgp.2_Missense_Mutation_p.P1960S|FAT4_uc003ifi.1_Missense_Mutation_p.P1140S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3662 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 CTTCAGTATTCCAGGGGGTAC 0.507000 99 11 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75690133 75690133 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:75690133T>A uc002fet.2 + 2 970 c.824T>A c.(823-825)aTa>aAa p.I275K NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA. 275 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 GATTTTGAAATACATATAACT 0.408000 57 10 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67679942 67679942 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:67679942C>T uc002etn.3 + 3 328 c.208C>T c.(208-210)Ctg>Ttg p.L70L RLTPR_uc010cel.1_Silent_p.L70L|RLTPR_uc010vjr.2_Silent_p.L70L NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 70 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTTCAGCTACCTGGAGGTCCA 0.627000 52 15 0 0 1 0 0 ProSAPiP1 9762 broad.mit.edu 37 20 3146945 3146945 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:3146945G>A uc002wia.1 - 1 1919 c.521C>T c.(520-522)tCc>tTc p.S174F ProSAPiP1_uc002wib.1_Missense_Mutation_p.S174F NM_014731 NP_055546 O60299 PRIP1_HUMAN Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA. 174 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATTCTGCATGGAGTGGAAATT 0.607000 23 5 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011786 32011786 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:32011786C>T uc003nzl.2 - 33 11580 c.11378G>A c.(11377-11379)gGa>gAa p.G3793E TNXB_uc003nzg.1_Missense_Mutation_p.G224E|TNXB_uc003nzh.1_Missense_Mutation_p.G262E NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3840 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCACCACCTCCGTCCGCCAG 0.617000 12 12 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128247 83128247 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:83128247C>T uc004eei.1 + 3 552 c.531C>T c.(529-531)tcC>tcT p.S177S CYLC1_uc004eeh.1_Silent_p.S176S NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 177 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AGTCAAAATCCAGTTCAGAAA 0.313000 38 9 0 0 1 0 0 FAM22G 441457 broad.mit.edu 37 9 99691319 99691319 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99691319G>A uc022bkp.1 + 0 34 c.13G>A c.(13-15)Gga>Aga p.G5R FAM22G_uc004awq.2_Missense_Mutation_p.G5R NM_001170741 NP_001164212 Q5VZR2 FA22G_HUMAN Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA. 5 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1) 17 Acute lymphoblastic leukemia(62;0.0527) GGCTTCAAATGGAGGTGAGCC 0.537000 104 16 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170043353 170043353 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:170043353G>A uc003isa.1 - 6 1579 c.1244C>T c.(1243-1245)cCa>cTa p.P415L SH3RF1_uc010irc.1_Intron NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 415 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGTGGCGCCTGGTGGTGTGGA 0.567000 26 11 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978081 45978081 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:45978081G>T uc002zfj.1 - 0 563 c.518C>A c.(517-519)cCc>cAc p.P173H TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA. 173 18 X 5 AA repeats of C-C-X(3). Missing (in Ref. 3; AAI33678). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 GGAGGGGATGGGCACACAGCA 0.721000 124 17 8.00594e-06 8.12853e-06 1 1 0 APOB 338 broad.mit.edu 37 2 21225802 21225802 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:21225802G>A uc002red.3 - 28 12620 c.12492C>T c.(12490-12492)ttC>ttT p.F4164F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4164 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAGTCCCTGGAAACTGGCTT 0.473000 98 40 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205886448 205886448 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:205886448G>A uc001hdp.3 - 19 2405 c.2291C>T c.(2290-2292)tCa>tTa p.S764L SLC26A9_uc001hdm.3_5'UTR|SLC26A9_uc001hdn.3_5'UTR|SLC26A9_uc001hdo.3_Missense_Mutation_p.S432L|SLC26A9_uc001hdq.3_Missense_Mutation_p.S764L NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 764 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GTCCTCCTCTGAGTCGTACAA 0.587000 288 63 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675792 21675792 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:21675792C>T uc004czz.1 - 0 657 c.115G>A c.(115-117)Gaa>Aaa p.E39K NM_153270 NP_695002 Q8N239 KLH34_HUMAN Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA. 39 BTB. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCCGGGAATTCGCTGCCCTCG 0.662000 19 11 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69370420 69370420 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:69370420G>A uc002ewy.2 - 1 644 c.573C>T c.(571-573)atC>atT p.I191I NIP7_uc002exa.3_5'Flank|NIP7_uc002exb.3_5'Flank NM_032382 NP_115758 Q96MW5 COG8_HUMAN Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA. 191 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GGATGACAGGGATGGAAGAGT 0.483000 25 10 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41331087 41331087 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:41331087C>T uc001uxm.4 - 3 737 c.662G>A c.(661-663)aGa>aAa p.R221K NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. 221 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) AAGCTCTGGTCTTGAACGAAC 0.368000 46 25 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676362 52676362 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:52676362G>A uc001vge.3 - 9 816 c.676C>T c.(676-678)Ccg>Tcg p.P226S NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 226 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.P225S(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAAAACCCCGGAGATATTGGG 0.423000 130 51 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920677 58920677 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58920677C>T uc010rkp.2 + 4 1763 c.1536C>T c.(1534-1536)gtC>gtT p.V512V FAM111A_uc010rkq.2_Silent_p.V512V|FAM111A_uc010rkr.2_Silent_p.V512V|FAM111A_uc001nno.3_Silent_p.V512V|FAM111A_uc001nnp.3_Silent_p.V512V|FAM111A_uc001nnq.3_Silent_p.V512V NM_001142521 NP_942144 Q96PZ2 F111A_HUMAN Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA. 512 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGAGTATGTCCATATGTATA 0.428000 116 29 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 283916 283916 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:283916C>T uc001qhw.2 + 13 3266 c.3266C>T c.(3265-3267)aCc>aTc p.T1089I NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 1089 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCCCCGGGCACCCTGGTGCAG 0.706000 16 6 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034682 16034682 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:16034682G>A uc002nbu.2 - 6 894 c.858C>T c.(856-858)ttC>ttT p.F286F CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.F286S(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTTCTTGAGGAAATCATCAA 0.532000 133 48 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115489079 115489079 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:115489079C>T uc001lan.3 + 6 866 c.692C>T c.(691-693)tCg>tTg p.S231L CASP7_uc001lam.3_Missense_Mutation_p.R220C|CASP7_uc001lao.3_Missense_Mutation_p.S264L|CASP7_uc001lap.3_Missense_Mutation_p.S231L|CASP7_uc001laq.3_Missense_Mutation_p.S231L|CASP7_uc010qsa.2_Missense_Mutation_p.S316L|CASP7_uc010qsb.2_Missense_Mutation_p.S206L NM_033339 NP_203125 P55210 CASP7_HUMAN Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA. 231 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GGCTATTACTCGTGGAGGAGC 0.507000 55 39 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21739436 21739436 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:21739436C>T uc002kux.3 + 5 1651 c.1499_splice c.e5-1 CABYR_uc021uig.1_Splice_Site_p.A163_splice|CABYR_uc010xbb.1_Splice_Site|CABYR_uc002kuy.3_Splice_Site_p.A181_splice|CABYR_uc002kuz.3_Intron|CABYR_uc002kva.3_Splice_Site|CABYR_uc002kvb.3_Splice_Site_p.A83_splice|CABYR_uc002kvc.3_Splice_Site_p.A181_splice|CABYR_uc010dlw.3_Intron NM_012189 NP_036321 O75952 CABYR_HUMAN Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA. ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TTTTTTATAGCAATGGCAACA 0.378000 76 15 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897421 175897421 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:175897421G>A uc003iuc.3 + 4 1415 c.745G>A c.(745-747)Gag>Aag p.E249K ADAM29_uc003iud.3_Missense_Mutation_p.E249K|ADAM29_uc010irr.3_Missense_Mutation_p.E249K|ADAM29_uc011cki.2_Missense_Mutation_p.E249K|ADAM29_uc021xuo.1_Missense_Mutation_p.E249K NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 249 Peptidase M12B. 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) ATTTGGTTTGGAGATCTGGAC 0.393000 126 47 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69633608 69633608 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:69633608G>A uc010lyz.3 + 9 1631 c.1340G>A c.(1339-1341)gGg>gAg p.G447E C8orf34_uc003xyb.3_Missense_Mutation_p.G336E NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 361 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCCTTGCCTGGGACTGAAGAA 0.294000 52 7 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723129 58723129 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58723129G>A uc001nnh.2 + 6 681 c.631G>A c.(631-633)Ggg>Agg p.G211R GLYATL1_uc001nnf.3_Missense_Mutation_p.G180R|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.G180R|GLYATL1_uc001nnj.2_Missense_Mutation_p.G180R NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 180 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CTCTTATTCTGGGCTGGTAAA 0.468000 46 22 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153038448 153038448 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:153038448C>T uc010nuk.2 + 17 3223 c.2952C>T c.(2950-2952)ttC>ttT p.F984F PLXNB3_uc004fii.2_Silent_p.F961F|PLXNB3_uc011mzd.1_Silent_p.F600F|PLXNB3_uc004fij.1_5'Flank NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 961 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTGCCTTCGTGGGTGGCC 0.657000 18 8 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994209 140994209 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140994209T>C uc004fbt.3 + 3 1343 c.1019T>C c.(1018-1020)aTt>aCt p.I340T MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 340 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTTCTCCAGATTCCTATGACC 0.468000 HNSCC(15;0.026) 452 23 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156848954 156848954 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156848954G>A uc001fqh.1 + 14 1902 c.1846G>A c.(1846-1848)Gat>Aat p.D616N NTRK1_uc001fqf.1_Missense_Mutation_p.D580N|NTRK1_uc009wsi.1_Missense_Mutation_p.D315N|NTRK1_uc001fqi.1_Missense_Mutation_p.D610N|NTRK1_uc009wsk.1_Missense_Mutation_p.D613N NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 616 Protein kinase. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGGTGGGGAGGATGTGGCTCC 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 48 17 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176651 8176651 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:8176651G>A uc003wsh.4 - 4 3234 c.3234C>T c.(3232-3234)ccC>ccT p.P1078P NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 1078 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity CCTGGGCAGGGGGGTGTGTGG 0.706000 73 43 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136401925 136401925 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:136401925G>A uc011mdl.2 + 2 647 c.90_splice c.e2+1 p.T30_splice ADAMTSL2_uc004cei.3_Splice_Site_p.T30_splice NM_001145320 NP_055509 Q86TH1 ATL2_HUMAN Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA. 30 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CGGGTCCACGGTGAGTGGGGT 0.607000 48 19 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542906 14542906 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:14542906C>A uc010dln.3 - 0 694 c.240G>T c.(238-240)gtG>gtT p.V80V POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 80 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CAGAAGTGCCCACGTTGCTCG 0.587000 375 18 5.01169e-05 5.07052e-05 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2806857 2806857 + Nonsense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:2806857C>A uc022aqr.1 - 67 10756 c.10366G>T c.(10366-10368)Gga>Tga p.G3456* CSMD1_uc011kwj.2_Nonsense_Mutation_p.G2771*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.G1348* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3457 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) AAGTCTTTTCCATGAATGTCA 0.338000 34 4 0.00024832 0.000249478 1 1 0 BFSP2 8419 broad.mit.edu 37 3 133119089 133119089 + Silent SNP C T T rs112142146 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:133119089C>T uc003epn.1 + 0 300 c.162C>T c.(160-162)ccC>ccT p.P54P NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 54 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TCCGAGCACCCGGGGTCTATG 0.662000 62 16 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50265290 50265290 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:50265290G>A uc002ppm.3 - 1 381 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA. 124 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCGTCATCCGGATCCCAGGGT 0.632000 72 40 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559510 140559510 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140559510G>A uc011dai.2 + 0 2140 c.1895G>A c.(1894-1896)aGc>aAc p.S632N PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 632 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCTGCTGAGCGAGCGCGAC 0.687000 127 12 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48375094 48375094 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:48375094C>T uc003toq.2 + 27 10099 c.10075C>T c.(10075-10077)Cag>Tag p.Q3359* ABCA13_uc010kys.1_Nonsense_Mutation_p.Q433*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Q185* NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3359 transport integral to membrane ATP binding|ATPase activity p.A3359T(1) 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 CAGCCTTTTCCAGAGAAGTGG 0.453000 39 22 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210016822 210016822 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:210016822T>C uc001hhr.2 + 10 1905 c.1808T>C c.(1807-1809)tTg>tCg p.L603S DIEXF_uc009xcu.2_Missense_Mutation_p.L318S NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA. 603 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AACAAGATTTTGCCACAGTAT 0.413000 30 5 0 0 1 0 0 CCDC22 28952 broad.mit.edu 37 X 49104003 49104003 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:49104003C>T uc004dnd.2 + 7 1126 c.956C>T c.(955-957)tCc>tTc p.S319F NM_014008 NP_054727 O60826 CCD22_HUMAN Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA. 319 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CCAGCCACCTCCCGGCGGCCT 0.667000 11 3 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002902 122002902 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:122002902C>T uc003eew.4 + 6 2569 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C CASR_uc003eev.4_Missense_Mutation_p.R701C NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 701 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) GAAAACCAACCGTGTCCTCCT 0.602000 61 32 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526081 68526081 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:68526081C>T uc009xpn.1 - 8 1345 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K CTNNA3_uc001jmw.2_Missense_Mutation_p.E408K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E408K NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 408 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATTTCCTTTTCCCGGCCATTC 0.433000 71 19 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183601455 183601455 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:183601455G>A uc003ivd.1 + 7 1667 c.1592G>A c.(1591-1593)gGa>gAa p.G531E ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 531 EGF-like 1. 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) TGCGTTTCTGGAACTTGCCAT 0.423000 31 5 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24231643 24231643 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:24231643G>A uc003ccz.4 - 5 725 c.205C>T c.(205-207)Cat>Tat p.H69Y THRB_uc010hfe.3_Missense_Mutation_p.H69Y|THRB_uc003ccy.4_Missense_Mutation_p.H69Y|THRB_uc003ccx.4_Missense_Mutation_p.H69Y|THRB_uc003cdc.3_Missense_Mutation_p.H64Y|THRB_uc003cdd.3_Missense_Mutation_p.H64Y|THRB_uc003cde.1_Missense_Mutation_p.H64Y|THRB_uc021wuc.1_Missense_Mutation_p.H64Y NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 69 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGTCCAGATGGAATATTGAG 0.473000 95 25 0 0 1 0 0 DDX28 55794 broad.mit.edu 37 16 68055781 68055781 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:68055781G>A uc002evh.2 - 0 1990 c.1325C>T c.(1324-1326)tCc>tTc p.S442F DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA. 442 Helicase C-terminal. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CTTCTGGAAGGACTGGAAGAT 0.512000 34 31 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6794410 6794410 + Silent SNP G A A rs61749084 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:6794410G>A uc003wqu.1 - 1 63 c.12C>T c.(10-12)atC>atT p.I4I NM_001925 NP_001916 P12838 DEF4_HUMAN Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA. 4 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space p.I4I(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CGAGGAGGGCGATAATCCTCA 0.622000 30 5 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896482 77896482 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:77896482C>T uc002lnw.3 + 3 3641 c.3186C>T c.(3184-3186)ttC>ttT p.F1062F NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 1062 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AAGATTATTTCCATAAGAAAC 0.338000 49 23 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43002250 43002250 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:43002250A>G uc009vwk.1 + 1 205 c.95A>G c.(94-96)aAg>aGg p.K32R CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.K32R NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA. 32 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ACTGCAGAGAAGGCCTTGAAA 0.363000 119 12 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63488180 63488180 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:63488180C>T uc001nxq.3 + 2 2393 c.2206C>T c.(2206-2208)Ctt>Ttt p.L736F RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.L624F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.L717F|RTN3_uc001nxo.3_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA. 736 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AGTAGCATCTCTTGACTTAGA 0.413000 52 14 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749494 8749494 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:8749494C>T uc003wsj.1 - 0 1638 c.1075G>A c.(1075-1077)Gac>Aac p.D359N NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA. 359 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CCAAAGTGGTCGGGCAGCACC 0.612000 70 24 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169206021 169206021 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:169206021G>A uc003irp.3 - 11 1803 c.1511C>T c.(1510-1512)tCt>tTt p.S504F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 504 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGGTTTATGAGAATGCCAGTG 0.368000 50 15 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094051 72094051 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:72094051G>A uc002fbr.4 + 6 527 c.483G>A c.(481-483)cgG>cgA p.R161R TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.R102R|HP_uc021tld.1_Silent_p.R102R|HP_uc002fbt.4_Silent_p.R102R NM_005143 NP_005134 P00738 HPT_HUMAN Homo sapiens haptoglobin (HP), transcript variant 1, mRNA. 161 cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CAGTGCAGCGGATCCTGGGTG 0.532000 25 6 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175360568 175360568 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:175360568C>T uc001gkp.1 - 4 1444 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K TNR_uc009wwu.1_Missense_Mutation_p.E455K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 455 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACTCCCCCTTCATTGTTCTGG 0.468000 25 11 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:48346753C>T uc010rhv.2 + 0 261 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 115 10 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16010698 16010698 + Missense_Mutation SNP T G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:16010698T>G uc001mme.3 - 13 1883 c.1850A>C c.(1849-1851)gAa>gCa p.E617A SOX6_uc001mmd.3_Missense_Mutation_p.E580A|SOX6_uc001mmf.3_Missense_Mutation_p.E577A|SOX6_uc001mmg.3_Missense_Mutation_p.E584A NM_001145819 NP_001139291 P35712 SOX6_HUMAN Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. 604 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GACTCGTGCTTCAGCCACAGT 0.522000 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 104 41 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57936125 57936125 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:57936125C>T uc004dve.3 - 0 943 c.730G>A c.(730-732)Gag>Aag p.E244K NM_007156 NP_009087 P98168 ZXDA_HUMAN Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA. 244 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 CCCTCCGCCTCCTCCTGGGGC 0.756000 12 4 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43680100 43680100 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:43680100C>T uc002ovu.3 - 2 762 c.631G>A c.(631-633)Gaa>Aaa p.E211K PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E211K NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 211 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGTCCTGTTTCATTTCTCGTG 0.502000 175 68 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106070472 106070472 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:106070472C>T uc004emo.3 + 6 1273 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.R370C|TBC1D8B_uc004emn.3_Missense_Mutation_p.R370C NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 370 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AACAGCTTTTCGCTTCCATGA 0.388000 134 33 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886864 227886864 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:227886864C>T uc021vxr.1 - 42 4217 c.4116G>A c.(4114-4116)gtG>gtA p.V1372V COL4A4_uc021vxs.1_Silent_p.V1369V NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1372 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) GACAGTCATCCACATCTGCAG 0.567000 248 47 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90103462 90103462 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:90103462C>T uc003kju.3 + 72 14976 c.14880C>T c.(14878-14880)ttC>ttT p.F4960F GPR98_uc003kjt.3_Silent_p.F2666F|GPR98_uc003kjw.3_Silent_p.F621F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4960 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) AAGGAGTTTTCCTGTGGACGT 0.468000 22 9 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5112559 5112559 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:5112559G>A uc010bud.3 - 1 462 c.225C>T c.(223-225)gtC>gtT p.V75V ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.V75V NM_152459 NP_689672 Q6UX73 CP089_HUMAN Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA. 75 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 ACTTCTCCCGGACACTTTTTA 0.537000 67 37 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805847 157805847 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:157805847C>T uc001frk.4 - 2 297 c.154G>A c.(154-156)Ggc>Agc p.G52S NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 52 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.G52C(2)|p.D51D(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATGTCCCAGCCGTCATCACAC 0.617000 144 161 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306718 54306718 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:54306718G>A uc021smr.1 + 0 1618 c.1618G>A c.(1618-1620)Gat>Aat p.D540N UNC13C_uc021sms.1_Missense_Mutation_p.D540N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 540 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCACAGAGTGATTTTTTCAC 0.368000 48 16 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22646955 22646955 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:22646955G>A uc001mql.1 - 0 433 c.402C>T c.(400-402)gcC>gcT p.A134A NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA. 134 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GGGCAAGGCGGGCCAGGCTCT 0.647000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 164 76 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755571 39755571 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:39755571G>A uc010gnw.3 - 11 1510 c.1215C>T c.(1213-1215)gcC>gcT p.A405A ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.A398A|ERG_uc011aek.2_Silent_p.A306A|ERG_uc010gnv.3_Silent_p.A282A|ERG_uc010gnx.3_Silent_p.A381A|ERG_uc011ael.2_Silent_p.A405A|ERG_uc002yxb.3_Silent_p.A381A NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 405 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GGGGCTGGAGGGCCTGGGCGA 0.582000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 118 42 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95566470 95566471 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:95566470_95566471GG>AA uc001tdp.4 - 2 2715_2716 c.2491_2492CC>TT c.(2491-2493)ccc>TTc p.P831F FGD6_uc009zsx.3_5'UTR NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 831 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CTCATCAGAGGGAAGGTCACCA 0.441000 78 24 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101196829 101196829 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:101196829T>C uc001dti.3 + 5 1501 c.1280T>C c.(1279-1281)gTt>gCt p.V427A VCAM1_uc010ouj.2_Missense_Mutation_p.V365A|VCAM1_uc001dtj.3_Missense_Mutation_p.V335A NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 427 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGCTGCAAGGTTCCTAGCGTG 0.463000 63 11 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999725 72999725 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:72999725C>T uc002lly.3 + 1 2791 c.2228C>T c.(2227-2229)cCc>cTc p.P743L TSHZ1_uc021uln.1_Missense_Mutation_p.P743L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 788 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCGGTGTACCCCGCCACCCCT 0.587000 32 24 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130130909 130130909 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:130130909A>G uc001qga.3 - 1 1254 c.860T>C c.(859-861)gTc>gCc p.V287A ZBTB44_uc001qgb.4_Missense_Mutation_p.V287A|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.V287A|ZBTB44_uc001qfz.3_Missense_Mutation_p.V287A NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA. 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TTTGACCCGGACATCTTCTTC 0.468000 92 45 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101351093 101351093 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:101351093C>A uc010txj.1 - 0 92 c.33G>T c.(31-33)acG>acT p.T11T MIR136_uc010txk.1_Non-coding_Transcript NM_001134888 NP_001128360 E9PKS8 E9PKS8_HUMAN Homo sapiens retrotransposon-like 1 (RTL1), mRNA. 11 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GCTCCATCATCGTCTCAAATG 0.512000 32 5 0.184627 0.184627 1 1 0 OR2M2 391194 broad.mit.edu 37 1 248343404 248343404 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248343404C>T uc010pzf.2 + 0 117 c.117C>T c.(115-117)ttC>ttT p.F39F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TAGTGGCCTTCATGGGAAACT 0.522000 376 250 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111356938 111356938 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:111356938G>A uc001try.4 - 1 134 c.63C>T c.(61-63)ttC>ttT p.F21F MYL2_uc001trx.4_Silent_p.F2F NM_000432 NP_000423 P10916 MLRV_HUMAN Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA. 21 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GGGTCTGTTCGAACATGGAGA 0.507000 36 5 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98887257 98887257 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:98887257G>A uc002syo.3 + 21 3220 c.2956G>A c.(2956-2958)Gaa>Aaa p.E986K VWA3B_uc002sym.3_Missense_Mutation_p.E986K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E643K|VWA3B_uc002syp.1_Missense_Mutation_p.E378K|VWA3B_uc002syq.1_Missense_Mutation_p.E262K|VWA3B_uc002syr.1_Missense_Mutation_p.E303K|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 986 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 GCTGGAAAGTGAAATCCTAGC 0.473000 88 55 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120151077 120151077 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:120151077C>T uc001txj.2 - 34 4566 c.4510G>A c.(4510-4512)Ggc>Agc p.G1504S CIT_uc001txh.2_Missense_Mutation_p.G981S|CIT_uc001txi.2_Missense_Mutation_p.G1462S NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1462 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) CTGTCCCAGCCTTGCTGTCCT 0.448000 185 56 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40604331 40604331 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:40604331T>C uc002yxk.2 - 23 3155 c.2860A>G c.(2860-2862)Aaa>Gaa p.K954E BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.K954E|BRWD1_uc010god.1_5'Flank NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 954 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AAAGGAGATTTTCTAAGTGTG 0.348000 38 30 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 361463 361463 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:361463G>A uc003bot.3 + 2 646 c.4G>A c.(4-6)Gag>Aag p.E2K CHL1_uc003bou.3_Missense_Mutation_p.E2K|CHL1_uc003bow.2_Missense_Mutation_p.E2K|CHL1_uc011asi.2_Missense_Mutation_p.E2K NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 2 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AAGAGCAATGGAGCCGCTTTT 0.373000 27 8 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41155163 41155163 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:41155163G>A uc003jmk.2 - 13 2222 c.2012C>T c.(2011-2013)tCa>tTa p.S671L C6_uc003jml.1_Missense_Mutation_p.S671L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 671 C5b-binding domain.|Sushi 1. 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) AGTAAGGCATGAAATTTCAAC 0.398000 99 21 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330037 138330037 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:138330037G>A uc002tva.1 + 15 3244 c.3244G>A c.(3244-3246)Gaa>Aaa p.E1082K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAACCAGGATGAAATTCCCCC 0.448000 28 12 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127677213 127677213 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:127677213G>T uc009yan.3 + 2 389 c.285G>T c.(283-285)gaG>gaT p.E95D FANK1_uc010quk.1_Missense_Mutation_p.E89D|FANK1_uc001ljh.4_Missense_Mutation_p.E95D|FANK1_uc001lji.3_Missense_Mutation_p.E89D NM_145235 NP_660278 Q8TC84 FANK1_HUMAN Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA. 95 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GGGAGTGTGAGTACAGCCCAC 0.488000 59 57 5.0973e-17 5.24955e-17 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163253416 163253416 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:163253416G>A uc002uch.2 - 10 2676 c.2447C>T c.(2446-2448)gCc>gTc p.A816V NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 816 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCCAGGTTTGGCATAAAGATG 0.373000 34 21 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346324 37346324 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:37346324G>A uc001caz.2 - 2 596 c.461C>T c.(460-462)cCc>cTc p.P154L GRIK3_uc001cba.1_Missense_Mutation_p.P154L NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 154 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCGTAGTCGGGGTAGAGGTT 0.607000 135 19 0 0 1 0 0 RBM38 55544 broad.mit.edu 37 20 55982761 55982761 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:55982761C>T uc010zzj.2 + 3 763 c.579C>T c.(577-579)gcC>gcT p.A193A MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA. 193 3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing cytosol|nucleus RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) ACCCATACGCCGCCTCGCCTG 0.701000 29 13 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55496482 55496482 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55496482G>A uc021vbq.1 + 6 2209 c.2098G>A c.(2098-2100)Gat>Aat p.D700N NLRP2_uc010yfp.2_Missense_Mutation_p.D677N|NLRP2_uc002qij.3_Missense_Mutation_p.D700N|NLRP2_uc010esp.3_Missense_Mutation_p.D678N|NLRP2_uc010esn.3_Missense_Mutation_p.D676N|NLRP2_uc010eso.3_Missense_Mutation_p.D697N NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 700 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ATCAAATAAGGATCTGATGGG 0.443000 114 34 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307480 140307480 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140307480G>A uc003lih.2 + 0 1179 c.1003G>A c.(1003-1005)Gat>Aat p.D335N 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_Missense_Mutation_p.D335N NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 360 Cadherin 3. 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) TGACGTGAACGATCATGCCCC 0.532000 89 87 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86479772 86479772 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:86479772C>T uc003uid.3 + 4 3577 c.2478C>T c.(2476-2478)atC>atT p.I826I GRM3_uc010lef.3_Missense_Mutation_p.P469S|GRM3_uc010leg.3_Silent_p.I698I|GRM3_uc010leh.3_Silent_p.I418I NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 826 synaptic transmission integral to plasma membrane p.I826I(2)|p.L827V(1) 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) TTCACATCATCCTGTTTCAAC 0.488000 63 13 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537824 55537824 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:55537824A>T uc003xsd.1 + 3 1530 c.1382A>T c.(1381-1383)aAa>aTa p.K461I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 461 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGACAAAAGAAATCTGTGATT 0.423000 56 49 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19118936 19118936 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:19118936G>A uc002zow.2 + 0 616 c.24G>A c.(22-24)agG>agA p.R8R DGCR14_uc002zou.3_3'UTR NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA. 8 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CAGTCCTAAGGAAGAAGGGTT 0.542000 59 57 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42393388 42393388 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:42393388A>C uc001uyj.3 - 14 1905 c.1835T>G c.(1834-1836)gTg>gGg p.V612G KIAA0564_uc001uyk.3_Missense_Mutation_p.V612G NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 612 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTCACTTTTCACAAGTGGTTT 0.388000 28 11 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72063197 72063197 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:72063197C>T uc021rkj.1 - 6 2083 c.1660G>A c.(1660-1662)Ggt>Agt p.G554S DACH1_uc021rkk.1_Missense_Mutation_p.G406S|DACH1_uc021rkl.1_Missense_Mutation_p.G352S NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 604 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GATGGAAAACCTGGAGGCAGT 0.468000 136 37 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6860208 6860208 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:6860208C>T uc003gjr.4 + 5 956 c.493C>T c.(493-495)Cct>Tct p.P165S KIAA0232_uc003gjq.4_Missense_Mutation_p.P165S NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 165 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGAATTATCCCCTCCAGCAAA 0.353000 34 6 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26073252 26073252 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:26073252G>A uc001bkm.2 + 2 1061 c.731G>A c.(730-732)gGa>gAa p.G244E MAN1C1_uc009vry.1_Missense_Mutation_p.G64E NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA. 244 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GCCTGGGTGGGAGAGAGCTTC 0.642000 18 11 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074319 32074319 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:32074319G>A uc003jhl.3 + 17 3495 c.3107G>A c.(3106-3108)gGt>gAt p.G1036D PDZD2_uc003jhm.3_Missense_Mutation_p.G1036D|PDZD2_uc011cnx.1_Missense_Mutation_p.G862D NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1036 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 CCTCTTCTTGGTAGCTCAGTG 0.577000 71 82 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279738 152279738 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152279738C>T uc001ezu.1 - 2 7660 c.7624G>A c.(7624-7626)Gac>Aac p.D2542N NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2542 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) CCAGAGCTGTCGGCCCGAGAG 0.582000 Ichthyosis 637 137 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304015 47304015 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:47304015G>A uc001ner.1 + 8 1744 c.1553G>A c.(1552-1554)cGg>cAg p.R518Q MADD_uc001neq.2_Missense_Mutation_p.R518Q|MADD_uc001nev.1_Missense_Mutation_p.R518Q|MADD_uc001nes.1_Missense_Mutation_p.R518Q|MADD_uc001net.1_Missense_Mutation_p.R518Q|MADD_uc009yln.1_Missense_Mutation_p.R518Q|MADD_uc001neu.1_Missense_Mutation_p.R518Q|MADD_uc001nez.2_Missense_Mutation_p.R518Q|MADD_uc001new.2_Missense_Mutation_p.R518Q|MADD_uc001nex.2_Missense_Mutation_p.R518Q NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 518 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTTTCCTCGGCCTGTGGTA 0.557000 80 19 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558462 113558462 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:113558462G>A uc010ljy.1 - 0 621 c.590C>T c.(589-591)cCt>cTt p.P197L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 197 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTTGATAAGGAGGAACCAA 0.333000 66 16 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995342 140995342 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140995342G>A uc004fbt.3 + 3 2476 c.2152G>A c.(2152-2154)Gag>Aag p.E718K MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E377K NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 718 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGAGTGGGAGGACTCCCT 0.557000 HNSCC(15;0.026) 190 44 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183664465 183664465 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:183664465C>T uc003ivd.1 + 17 3597 c.3522C>T c.(3520-3522)gcC>gcT p.A1174A ODZ3_uc003ive.1_Silent_p.A580A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1174 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) AGTTACTGGCCCCAGTGGCGC 0.527000 39 19 0 0 1 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139918661 139918661 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:139918661C>T uc003lfs.2 + 32 7716 c.7562C>T c.(7561-7563)gCc>gTc p.A2521V ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.A2521V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A1277V|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.A1176V|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.A897V|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.A666V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 2521 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCACTGATGCCCAGCAGGTA 0.368000 38 6 0 0 1 0 0 EIF3IP1 442720 broad.mit.edu 37 7 109599922 109599922 + Missense_Mutation SNP G C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:109599922G>C uc003vfp.1 - 0 349 c.176C>G c.(175-177)aCg>aGg p.T59R Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. CATGGAGAACGTGATGATATT 0.473000 10 11 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640335 104640335 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:104640335G>A uc003hxe.1 - 0 639 c.498C>T c.(496-498)atC>atT p.I166I NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 166 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) ACACAGCTGTGATAGGAAAGA 0.522000 39 17 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223085957 223085957 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:223085957G>A uc010fwo.3 - 5 1323 c.942C>T c.(940-942)ccC>ccT p.P314P PAX3_uc002vmt.2_Silent_p.P314P|PAX3_uc002vmy.2_Silent_p.P313P|PAX3_uc002vmv.2_Silent_p.P314P|PAX3_uc002vmw.2_Silent_p.P314P|PAX3_uc002vmx.2_Silent_p.P314P NM_181457 NP_852122 P23760 PAX3_HUMAN Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA. 314 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAATAGATGTGGGCTGGTAAG 0.498000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 227 108 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52723474 52723474 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:52723474C>T uc002pyp.3 + 10 1630 c.1335C>T c.(1333-1335)tcC>tcT p.S445S PPP2R1A_uc010ydk.2_Silent_p.S390S|PPP2R1A_uc002pyq.3_Silent_p.S266S NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 445 PP2A subunit C binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AACTTAACTCCTTGTGCATGG 0.537000 Mis clear cell ovarian carcinoma 110 29 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156085021 156085021 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156085021G>A uc001fni.2 + 0 561 c.312G>A c.(310-312)ctG>ctA p.L104L LMNA_uc001fnf.1_Silent_p.L104L|LMNA_uc001fng.2_Silent_p.L104L|LMNA_uc001fnh.2_Silent_p.L104L|LMNA_uc009wro.1_Silent_p.L104L NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 104 Coil 1B.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GCCTGCAGCTGGAGCTGAGCA 0.687000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 38 8 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452175 138452175 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:138452175G>A uc003ihe.4 - 0 1455 c.1068C>T c.(1066-1068)atC>atT p.I356I PCDH18_uc003ihf.4_Silent_p.I349I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I136I|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 356 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACATGAGGTTGATGTTAATTT 0.363000 33 15 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141408896 141408896 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:141408896C>T uc003vwn.2 + 0 744 c.338C>T c.(337-339)cCc>cTc p.P113L FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 113 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CCCTCTACTCCCAAAGTAAGT 0.522000 102 26 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516850 192516850 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:192516850G>A uc011bsp.2 - 1 1122 c.801C>T c.(799-801)gtC>gtT p.V267V NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 267 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACCCACTGATGACCTCTTCCT 0.507000 31 14 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73559030 73559030 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:73559030C>T uc001jrx.4 + 48 7598 c.7208C>T c.(7207-7209)tCc>tTc p.S2403F CDH23_uc001jsg.4_Missense_Mutation_p.S166F|CDH23_uc001jsh.4_Missense_Mutation_p.S166F|CDH23_uc001jsi.4_Missense_Mutation_p.S166F NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2406 Cadherin 23. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACCAGCCCTCCTACCAGGTG 0.622000 19 24 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86010709 86010709 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:86010709C>T uc003dql.3 + 6 861 c.861C>T c.(859-861)ttC>ttT p.F287F CADM2_uc003dqj.3_Silent_p.F285F|CADM2_uc003dqk.3_Silent_p.F294F|CADM2_uc003dqm.2_Silent_p.F177F|CADM2_uc021xay.1_Silent_p.F177F|CADM2_uc021xaz.1_Silent_p.F177F|CADM2_uc021xba.1_Silent_p.F177F NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 285 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.L286I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACATTCTTTTCCTGAACAAAA 0.433000 92 17 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437169 120437169 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120437169G>A uc001eij.3 - 0 1979 c.1791C>T c.(1789-1791)ccC>ccT p.P597P NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 597 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTATTCCCATGGGTTTCATGG 0.443000 127 16 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345115 20345115 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20345115C>T uc001vwh.1 + 0 689 c.689C>T c.(688-690)tCc>tTc p.S230F NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCATTCTTCCAGAGGATCA 0.383000 350 20 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692070 49692070 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49692070G>A uc003cxe.4 + 4 5195 c.5081G>A c.(5080-5082)aGg>aAg p.R1694K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1694 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GTGGAAGCGAGGAAGTATGGT 0.582000 86 37 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897468 21897468 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:21897468G>A uc001war.2 - 1 935 c.870C>T c.(868-870)gtC>gtT p.V290V CHD8_uc001was.2_Silent_p.V11V NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 290 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCTGCTGGAGGACCAGGGTGA 0.478000 37 5 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123051503 123051503 + Nonsense_Mutation SNP C A A rs79462429 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:123051503C>A uc003egh.2 - 3 1426 c.1426G>T c.(1426-1428)Gag>Tag p.E476* ADCY5_uc021xdd.1_Nonsense_Mutation_p.E126*|ADCY5_uc003egg.2_Nonsense_Mutation_p.E109*|ADCY5_uc003egi.1_Nonsense_Mutation_p.E35* NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 476 Guanylate cyclase 1. 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 p.I475M(1) 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) GTGAAGCCCTCGATGTCAGCA 0.532000 22 9 7.48243e-07 7.60596e-07 1 1 0 NR3C2 4306 broad.mit.edu 37 4 149356521 149356521 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:149356521C>T uc003ilj.4 - 1 1855 c.1492G>A c.(1492-1494)Gat>Aat p.D498N NR3C2_uc003ilk.4_Missense_Mutation_p.D498N|NR3C2_uc010iph.3_Non-coding_Transcript NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 498 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTCCCATCATCTGGTTCTTGT 0.493000 86 36 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117250629 117250629 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:117250629C>T uc003vjd.3 + 18 3177 c.3045C>T c.(3043-3045)atC>atT p.I1015I CFTR_uc011knq.2_Silent_p.I421I NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1015 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AACCCTACATCTTTGTTGCAA 0.373000 Cystic Fibrosis 49 27 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986936 166986937 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:166986936_166986937CC>TT uc003irh.2 + 15 2756_2757 c.2109_2110CC>TT c.(2107-2112)tcccag>tcTTag p.Q704* TLL1_uc011cjn.2_Nonsense_Mutation_p.Q727*|TLL1_uc011cjo.2_Nonsense_Mutation_p.Q528* NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 704 CUB 3. 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) TGATCACATCCCAGTTCAACAA 0.391000 91 24 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21800972 21800972 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:21800972C>T uc002zur.4 + 2 2018 c.1788C>T c.(1786-1788)ggC>ggT p.G596G HIC2_uc002zus.4_Silent_p.G596G NM_015094 NP_055909 Q96JB3 HIC2_HUMAN Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA. 596 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TGTGCGGGGGCAAGTTCACCC 0.647000 126 9 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814775 106814775 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:106814775C>T uc003ymd.3 + 7 2488 c.2465C>T c.(2464-2466)tCc>tTc p.S822F ZFPM2_uc011lhs.2_Missense_Mutation_p.S553F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 822 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCCAGTGTTTCCTGCCTAGAG 0.453000 6 6 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933628 44933628 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:44933628C>T uc002oze.1 - 5 1762 c.1328G>A c.(1327-1329)tGt>tAt p.C443Y ZNF229_uc010ejk.1_Missense_Mutation_p.C97Y|ZNF229_uc010ejl.1_Missense_Mutation_p.C437Y NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGACTTGGCACAGAAGCCTTT 0.562000 47 12 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118583901 118583901 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:118583901C>T uc002tlh.1 + 10 1677 c.1578C>T c.(1576-1578)gcC>gcT p.A526A NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 526 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGGCATGCCTTGCTCATTT 0.443000 30 20 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41010021 41010021 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:41010021C>T uc002ony.3 + 11 1733 c.1647C>T c.(1645-1647)gaC>gaT p.D549D SPTBN4_uc002onx.3_Silent_p.D549D|SPTBN4_uc002onz.3_Silent_p.D549D NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 549 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACATGGTGGACTGGATGGAGG 0.632000 47 12 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062001 194062001 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:194062001G>A uc003fts.3 - 1 1521 c.1431C>T c.(1429-1431)gcC>gcT p.A477A CPN2_uc021xix.1_Silent_p.A477A NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 477 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) ACTGGCTCCGGGCTGCCCTTT 0.667000 73 19 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106484 90106484 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:90106484C>T uc003kju.3 + 73 15503 c.15407C>T c.(15406-15408)tCc>tTc p.S5136F GPR98_uc003kjt.3_Missense_Mutation_p.S2842F|GPR98_uc003kjw.3_Missense_Mutation_p.S797F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 5136 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.S5136F(2) 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) ATGGATATTTCCTTCCCCGAG 0.433000 192 20 0 0 1 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876829 139876829 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:139876829G>A uc003lfs.2 + 14 3124 c.2970G>A c.(2968-2970)caG>caA p.Q990Q ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.Q1009Q|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.Q990Q|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.Q470Q|ANKHD1-EIF4EBP3_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 990 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGCTCAGACGCTTACCG 0.418000 117 20 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C T T rs1055042 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:18778612C>T uc011ago.1 - 1 c.208G>A GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA. GCGGCCACGGCAGCCCTGGTG 0.637000 35 4 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228163401 228163401 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:228163401C>T uc002vom.2 + 42 3917 c.3755C>T c.(3754-3756)gCg>gTg p.A1252V 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. 1252 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) AATTCAGGTGCGCCTGGTCCC 0.483000 53 7 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807096 143807096 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:143807096A>T uc011ktz.2 + 0 421 c.421A>T c.(421-423)Acg>Tcg p.T141S NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T141T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGAGTGTGCACGATCCTGGT 0.517000 115 41 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225594435 225594435 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:225594435C>T uc001hoy.3 - 10 1588 c.1414G>A c.(1414-1416)Gcc>Acc p.A472T LBR_uc001hoz.3_Missense_Mutation_p.A472T NM_002296 NP_919424 Q14739 LBR_HUMAN Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. 472 cholesterol biosynthetic process integral to nuclear inner membrane DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AAATAAAAGGCTTGGAAGCTG 0.398000 42 16 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115932877 115932877 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:115932877G>A uc004bgs.2 - 24 2844 c.2691C>T c.(2689-2691)tcC>tcT p.S897S FKBP15_uc004bgr.2_Silent_p.S334S|FKBP15_uc011lxc.1_Silent_p.S478S|FKBP15_uc011lxd.1_Silent_p.S829S NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 897 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTCTCCGTAAGGACTGGAACA 0.443000 96 30 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821284 5821284 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:5821284C>T uc010ndi.3 - 5 2010 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K NLGN4X_uc004crp.3_Missense_Mutation_p.E499K|NLGN4X_uc010ndh.3_Missense_Mutation_p.E479K|NLGN4X_uc004crq.3_Missense_Mutation_p.E479K|NLGN4X_uc004crr.3_Missense_Mutation_p.E479K|NLGN4X_uc010ndj.3_Missense_Mutation_p.E479K NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 479 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGCTTCATTTCGCTTTGGCAG 0.602000 107 24 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176857236 176857236 + Silent SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:176857236G>T uc001glc.3 - 17 3257 c.3045C>A c.(3043-3045)ctC>ctA p.L1015L ASTN1_uc001glb.1_Silent_p.L1015L|ASTN1_uc001gld.1_Silent_p.L1015L NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1023 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACAGGTGGGGAGTCCATCAG 0.507000 46 5 0.014758 0.0147923 1 1 0 POMT2 29954 broad.mit.edu 37 14 77762534 77762534 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:77762534G>A uc001xti.2 - 8 1290 c.1089C>T c.(1087-1089)ccC>ccT p.P363P POMT2_uc001xth.1_Silent_p.P61P NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 363 MIR 1. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CAATGCCCTCGGGGTAGAGGT 0.577000 8 4 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115168201 115168201 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:115168201C>T uc001efd.1 - 3 1107 c.405G>A c.(403-405)gaG>gaA p.E135E DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.E135E NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 135 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) GTAATGAAGTCTCTGGATCTA 0.363000 50 10 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15886035 15886035 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:15886035G>A uc001aws.3 + 7 1158 c.1038G>A c.(1036-1038)aaG>aaA p.K346K DNAJC16_uc001awr.1_Silent_p.K346K|DNAJC16_uc001awt.3_Silent_p.K34K|DNAJC16_uc001awu.3_Non-coding_Transcript NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 346 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGGTATGAAGAAGCAAATCA 0.423000 131 16 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157920882 157920882 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:157920882C>T uc003fbt.3 + 3 453 c.342C>T c.(340-342)ctC>ctT p.L114L RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Silent_p.L114L|RSRC1_uc003fbv.3_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 114 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GACCTCGTCTCCGTTCTCATA 0.403000 28 3 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158597458 158597458 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158597458C>T uc001fst.1 - 39 5820 c.5621G>A c.(5620-5622)cGa>cAa p.R1874Q NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1874 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 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) ATTTTGTACTCGGGTCTCATG 0.428000 89 83 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58131696 58131696 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58131696C>T uc003djj.2 + 32 5639 c.5474C>T c.(5473-5475)tCt>tTt p.S1825F FLNB_uc010hne.2_Missense_Mutation_p.S1856F|FLNB_uc003djk.2_Missense_Mutation_p.S1814F|FLNB_uc010hnf.2_Missense_Mutation_p.S1801F|FLNB_uc003djl.2_Missense_Mutation_p.S1645F|FLNB_uc003djm.2_Missense_Mutation_p.S1632F NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1825 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAAGTGTTTCTGCATACGGT 0.502000 96 52 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54981663 54981663 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:54981663C>T uc002iut.3 - 2 940 c.880G>A c.(880-882)Gag>Aag p.E294K TRIM25_uc010dcj.3_Missense_Mutation_p.E86K NM_005082 NP_005073 Q14258 TRI25_HUMAN Homo sapiens tripartite motif containing 25 (TRIM25), mRNA. 294 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) TGTTCAATCTCCTCCTTCAAG 0.428000 156 71 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172571559 172571559 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:172571559C>T uc003mci.4 + 0 115 c.11C>T c.(10-12)cCc>cTc p.P4L BNIP1_uc003mcj.4_Missense_Mutation_p.P4L|BNIP1_uc003mck.4_Missense_Mutation_p.P4L|BNIP1_uc003mcl.4_Missense_Mutation_p.P4L|BNIP1_uc021yhw.1_5'Flank NM_013979 NP_053582 Q12981 SEC20_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA. 4 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATGGCGGCTCCCCAAGACGTC 0.612000 OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 12 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61727429 61727429 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:61727429G>A uc001nsr.2 + 7 1406 c.834G>A c.(832-834)tgG>tgA p.W278* BEST1_uc010rlq.1_Missense_Mutation_p.G346E|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Nonsense_Mutation_p.W338*|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Nonsense_Mutation_p.W278*|BEST1_uc001nst.3_Nonsense_Mutation_p.W251*|BEST1_uc010rlu.1_Missense_Mutation_p.G300E|BEST1_uc010rlv.2_Nonsense_Mutation_p.W232* NM_001139443 NP_001132915 O76090 BEST1_HUMAN Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA. 338 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 ACATGTACTGGAATAAGCCCG 0.597000 11 5 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391529 61391529 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:61391529G>A uc002ydf.3 + 3 1538 c.1167G>A c.(1165-1167)agG>agA p.R389R NM_002531 NP_002522 P30989 NTR1_HUMAN Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA. 389 Golgi apparatus|endoplasmic reticulum|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GGCGGCGCAGGAGGAAGAGGC 0.642000 157 19 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058501 53058501 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:53058501C>T uc010epq.1 + 4 2509 c.2332C>T c.(2332-2334)Ctt>Ttt p.L778F ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CTGGTCATCCCTTGTATACCA 0.438000 236 25 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811819 13811819 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:13811819C>T uc003jfd.2 - 43 7386 c.7344G>A c.(7342-7344)gaG>gaA p.E2448E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2448 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) CCTCCAGCACCTCCATCTTGT 0.433000 Kartagener syndrome 76 36 0 0 1 0 0 VRK1 7443 broad.mit.edu 37 14 97319244 97319244 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:97319244C>T uc001yft.3 + 5 557 c.451C>T c.(451-453)Cgg>Tgg p.R151W NM_003384 NP_003375 Q99986 VRK1_HUMAN Homo sapiens vaccinia related kinase 1 (VRK1), mRNA. 151 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) AAGGTTTTCTCGGAAAACTGT 0.338000 37 4 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275399 58275399 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58275399G>A uc010rki.2 - 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTTACTGAGGAAAAAGTACA 0.502000 51 26 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635183 32635183 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:32635183G>A uc003zrg.1 - 0 485 c.395C>T c.(394-396)cCc>cTc p.P132L AX747113_uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 132 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTGGTAAAGGGGCTGCAAGCT 0.483000 50 63 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94083625 94083625 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:94083625A>G uc001ybv.1 + 25 3817 c.3734A>G c.(3733-3735)aAg>aGg p.K1245R UNC79_uc001ybs.1_Missense_Mutation_p.K1223R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1400 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGTGGTTGAAGGCCTTGCTT 0.498000 67 9 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343103 40343104 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343103_40343104GG>AA uc002hzd.3 - 4 1498_1499 c.1014_1015CC>TT c.(1012-1017)ctcctt>ctTTtt p.L339F GHDC_uc002hzg.2_Missense_Mutation_p.L339F|GHDC_uc010wgg.2_Missense_Mutation_p.L300F|GHDC_uc002hze.4_Missense_Mutation_p.L339F|GHDC_uc002hzf.4_Missense_Mutation_p.L339F NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA. 339 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) TCGGCCAAAAGGAGGGTGGAGG 0.658000 83 15 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578849 9578849 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9578849G>A uc002mlp.1 - 9 984 c.774C>T c.(772-774)acC>acT p.T258T ZNF560_uc010dwr.1_Silent_p.T152T NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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 TTATGGTAGAGGTTTTATTGT 0.373000 83 22 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58055936 58055936 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:58055936G>A uc021rtp.1 - 2 631 c.582C>T c.(580-582)ttC>ttT p.F194F SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F72F NM_001206920 NP_001193849 Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA. breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAACCTACCTGAATTTTTTCA 0.338000 30 14 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54403620 54403620 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:54403620G>A uc002iun.1 + 2 136 c.101G>A c.(100-102)aGc>aAc p.S34N NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 34 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CAGAGGCTGAGCCACAGGAGA 0.438000 76 33 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101818843 101818843 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:101818843C>T uc001pgm.3 + 3 746 c.476C>T c.(475-477)cCc>cTc p.P159L KIAA1377_uc001pgn.3_Missense_Mutation_p.P115L|KIAA1377_uc009yxa.1_5'UTR NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 159 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTAAACCTTCCCTTTTCCCGT 0.343000 25 11 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540752 28540752 + Missense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:28540752C>A uc003nlo.3 - 3 3532 c.2914G>T c.(2914-2916)Ggt>Tgt p.G972C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 972 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gaagctgcaccatcagaacat 0.358000 111 9 7.48243e-07 7.60596e-07 1 1 0 OR51A4 401666 broad.mit.edu 37 11 4967551 4967551 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:4967551G>A uc010qys.2 - 0 780 c.780C>T c.(778-780)gcC>gcT p.A260A NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGGACAACGGCCAGGTTGA 0.468000 75 11 0 0 1 0 0 KDELC1 79070 broad.mit.edu 37 13 103438659 103438659 + Missense_Mutation SNP G C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:103438659G>C uc001vpq.4 - 8 1798 c.1414C>G c.(1414-1416)Caa>Gaa p.Q472E KDELC1_uc001vpr.4_Missense_Mutation_p.Q253E NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA. 472 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCTCGGATTTGGGGCTCACTC 0.423000 88 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419273 179419273 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179419273C>T uc021vsy.1 - 280 81322 c.81097G>A c.(81097-81099)Gga>Aga p.G27033R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20728R|TTN_uc021vta.1_Missense_Mutation_p.G20661R|TTN_uc021vtb.1_Missense_Mutation_p.G20536R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27960 Fibronectin type-III 97. 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) TATTCATTTCCTTTGATAATT 0.453000 49 9 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73641371 73641371 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:73641371G>A uc004ebt.2 + 0 287 c.121G>A c.(121-123)Ggc>Agc p.G41S NM_006517 NP_006508 P36021 MOT8_HUMAN Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA. 0 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) cagcggcagcggcagcagcag 0.706000 5 2 0 0 1 0 0 C10orf111 221060 broad.mit.edu 37 10 15138530 15138530 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:15138530C>T uc001inw.3 - 1 568 c.294G>A c.(292-294)ttG>ttA p.L98L C10orf111_uc021pnj.1_Silent_p.L98L|RPP38_uc001iny.4_5'Flank|RPP38_uc009xjm.3_5'Flank|RPP38_uc001inx.4_5'Flank NM_153244 NP_694976 Q8N326 CJ111_HUMAN Homo sapiens chromosome 10 open reading frame 111 (C10orf111), mRNA. 98 integral to membrane lung(5)|upper_aerodigestive_tract(1) 6 AAGGGTAGATCAACAGATCCA 0.527000 62 20 0 0 1 0 0 NIM1 167359 broad.mit.edu 37 5 43280578 43280578 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:43280578A>T uc003jno.3 + 3 1939 c.1058A>T c.(1057-1059)gAa>gTa p.E353V NM_153361 NP_699192 Q8IY84 NIM1_HUMAN Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA. 353 ATP binding|magnesium ion binding|protein serine/threonine kinase activity CTCAAGGAAGAAGAAAATGAG 0.448000 143 26 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75444290 75444290 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:75444290G>T uc001sxg.1 - 2 2039 c.1495C>A c.(1495-1497)Cct>Act p.P499T KCNC2_uc009zry.3_Missense_Mutation_p.P499T|KCNC2_uc001sxe.3_Missense_Mutation_p.P499T|KCNC2_uc001sxf.3_Missense_Mutation_p.P499T|KCNC2_uc010stw.1_Missense_Mutation_p.P499T NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 499 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TGAGGAGCAGGAGGGATGTGC 0.443000 69 11 3.86212e-05 3.91204e-05 1 1 0 RXFP2 122042 broad.mit.edu 37 13 32365998 32365998 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:32365998C>T uc001utt.3 + 14 1272 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S RXFP2_uc010aba.3_Missense_Mutation_p.P377S NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 401 integral to membrane|plasma membrane p.P401S(2) cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AATATGTATGCCCTTGACGGA 0.393000 72 28 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170066148 170066148 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:170066148C>T uc002ues.3 - 37 6497 c.6284G>A c.(6283-6285)cGa>cAa p.R2095Q NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2095 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 p.R2095Q(4) 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) CAGTGCGTTTCGTCCTGGAAG 0.413000 44 19 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445153 150445153 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150445153C>T uc009wlr.3 + 10 3930 c.3729C>T c.(3727-3729)ccC>ccT p.P1243P RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.P1217P NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 1243 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTTCGAACCCCTTCACAAAGG 0.597000 203 10 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077473 79077474 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:79077473_79077474CC>TT uc002jzg.2 + 7 922_923 c.814_815CC>TT c.(814-816)ccg>TTg p.P272L BAIAP2_uc002jyz.4_Missense_Mutation_p.P272L|BAIAP2_uc002jza.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P29L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P194L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P272L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P272L|BAIAP2_uc002jze.2_Missense_Mutation_p.P305L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P273L|BAIAP2_uc010wui.2_Missense_Mutation_p.P135L NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 272 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CGACCCCATTCCGGGGGCCAAG 0.698000 42 18 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66620283 66620283 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:66620283G>A uc001ojn.1 - 11 1587 c.1538C>T c.(1537-1539)aCc>aTc p.T513I PC_uc001ojo.1_Missense_Mutation_p.T513I|PC_uc001ojp.1_Missense_Mutation_p.T513I NM_022172 NP_071504 P11498 PYC_HUMAN Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 513 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AATCGGGGTGGTTGGACCGTT 0.637000 41 11 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606572 21606572 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:21606572C>T uc002npw.3 + 3 1230 c.1111C>T c.(1111-1113)Cat>Tat p.H371Y ZNF493_uc002npx.3_Missense_Mutation_p.H243Y|ZNF493_uc002npy.3_Missense_Mutation_p.H243Y|ZNF493_uc021urq.1_Missense_Mutation_p.H243Y NM_001076678 NP_787106 Q6ZR52 ZN493_HUMAN Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA. 243 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 TAAAAGAATTCATACTGGAGA 0.343000 56 7 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37076681 37076681 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:37076681G>A uc002rpn.3 - 17 2270 c.2261C>T c.(2260-2262)tCg>tTg p.S754L STRN_uc010ezx.3_Missense_Mutation_p.S717L NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 754 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATCATGAATCGATTCTTCAAA 0.393000 65 23 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36241700 36241700 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:36241700C>T uc021rid.1 + 55 9125 c.8591C>T c.(8590-8592)tCa>tTa p.S2864L NBEA_uc021ric.1_Missense_Mutation_p.S2861L|NBEA_uc010abi.3_Missense_Mutation_p.S1522L|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.S657L|NBEA_uc001uvd.3_Missense_Mutation_p.S442L NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2864 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATCAATGATTCAACACGGGTA 0.373000 113 39 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72127898 72127898 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:72127898C>T uc003xyu.3 - 14 2066 c.1426G>A c.(1426-1428)Gac>Aac p.D476N EYA1_uc003xyt.4_Missense_Mutation_p.D443N|EYA1_uc003xyr.4_Missense_Mutation_p.D441N|EYA1_uc010lzf.3_Missense_Mutation_p.D403N|EYA1_uc003xys.4_Missense_Mutation_p.D476N|EYA1_uc011lfe.2_Missense_Mutation_p.D470N|EYA1_uc003xyv.3_Missense_Mutation_p.D354N NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 476 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AACCAGGAGTCGGTCAGGGCT 0.547000 48 50 0 0 1 0 0 TXNL4B 54957 broad.mit.edu 37 16 72120625 72120625 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:72120625G>A uc002fca.3 - 3 672 c.361C>T c.(361-363)Cga>Tga p.R121* TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.2_Nonsense_Mutation_p.R121*|TXNL4B_uc010vmo.2_Nonsense_Mutation_p.R121* NM_017853 NP_060323 Q9NX01 TXN4B_HUMAN Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA. 121 RNA splicing|mRNA processing|mitosis spliceosomal complex p.R121*(2) cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2) 8 ATTGCTCCTCGATAGATTACT 0.368000 41 5 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137928454 137928454 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:137928454G>A uc002tva.1 + 5 1576 c.1576G>A c.(1576-1578)Gga>Aga p.G526R THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416R NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.G526R(1)|p.G557R(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCTGATCATGGAAAATGTGG 0.522000 21 13 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446526 107446526 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:107446526G>A uc002tdq.3 - 4 1433 c.1314C>T c.(1312-1314)ttC>ttT p.F438F ST6GAL2_uc002tdr.3_Silent_p.F438F|ST6GAL2_uc002tds.3_Silent_p.F438F NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 438 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 ACCTACCAATGAAACCAGAAG 0.348000 100 35 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72431523 72431523 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:72431523C>T uc001xna.4 + 1 538 c.15C>T c.(13-15)tcC>tcT p.S5S RGS6_uc021rvv.1_Intron|RGS6_uc010ttn.2_Silent_p.S5S|RGS6_uc021rvw.1_Silent_p.S5S|RGS6_uc021rvx.1_Silent_p.S5S|RGS6_uc021rvy.1_Silent_p.S5S|RGS6_uc021rvz.1_Silent_p.S5S|RGS6_uc001xmy.4_Silent_p.S5S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S5S|RGS6_uc021rwa.1_Silent_p.S5S|RGS6_uc021rwb.1_Silent_p.S5S NM_001204423 NP_001191352 P49758 RGS6_HUMAN Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA. 5 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity p.G4R(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CTCAAGGATCCGGGGATCAAA 0.463000 45 29 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9801249 9801249 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:9801249C>T uc001aqh.3 - 9 2181 c.1422G>A c.(1420-1422)gtG>gtA p.V474V CLSTN1_uc001aqi.3_Silent_p.V464V|CLSTN1_uc010oag.2_Silent_p.V474V NM_001009566 NP_001009566 O94985 CSTN1_HUMAN Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA. 474 V -> A (in dbSNP:rs17853245). homophilic cell adhesion Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) ACGTGCCATCCACATAGAGAG 0.542000 50 17 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119054534 119054534 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:119054534C>T uc004ese.3 + 6 696 c.558C>T c.(556-558)ttC>ttT p.F186F AKAP14_uc004esf.3_Silent_p.F126F NM_178813 NP_848928 Q86UN6 AKA28_HUMAN Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA. 186 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 AATATAGTTTCATGGAGTCAT 0.353000 43 16 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74274469 74274469 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:74274469G>A uc003hgs.4 + 3 502 c.429G>A c.(427-429)gaG>gaA p.E143E ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.E33E NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 143 Albumin 1. E -> K (in Nagoya). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGAGACCAGAGGTTGATGTGA 0.383000 47 19 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611986 17611986 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:17611986G>A uc003wxv.3 - 1 1805 c.1331C>T c.(1330-1332)cCg>cTg p.P444L MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P444L|MTUS1_uc010lsz.3_Missense_Mutation_p.P444L NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 444 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CGCTTCAATCGGTGAAACAGA 0.448000 141 45 0 0 1 0 0 AMTN 401138 broad.mit.edu 37 4 71396990 71396990 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:71396990G>A uc003hfk.1 + 7 681 c.592G>A c.(592-594)Gag>Aag p.E198K AMTN_uc010ihy.1_Missense_Mutation_p.E197K NM_212557 NP_997722 Q6UX39 AMTN_HUMAN Homo sapiens amelotin (AMTN), mRNA. 198 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction p.I197I(1) NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) ACATGCCATCGAGGAAGCCAC 0.517000 34 9 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13121775 13121775 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:13121775G>A uc010mia.1 - 36 5251 c.5194C>T c.(5194-5196)Ccg>Tcg p.P1732S MPDZ_uc003zkx.4_5'Flank|MPDZ_uc003zky.4_Missense_Mutation_p.P266S|MPDZ_uc010mib.3_Missense_Mutation_p.P437S|MPDZ_uc010mhx.3_Missense_Mutation_p.P554S|MPDZ_uc011lmm.2_Missense_Mutation_p.P591S|MPDZ_uc003zkz.4_Missense_Mutation_p.P425S|MPDZ_uc010mhz.3_Missense_Mutation_p.P1699S|MPDZ_uc011lmn.2_Missense_Mutation_p.P1699S|MPDZ_uc010mhy.3_Missense_Mutation_p.P1732S|MPDZ_uc003zlb.4_Missense_Mutation_p.P1732S NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1732 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CCTTTTCCCGGCTTCTTCTGC 0.468000 25 20 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38978543 38978543 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38978543C>T uc002hvi.3 - 0 321 c.295G>A c.(295-297)Gga>Aga p.G99R TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 99 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) AAGATGCCTCCATAACTCCCA 0.572000 92 35 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42605941 42605941 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:42605941G>A uc003bcj.1 - 0 5505 c.5371C>T c.(5371-5373)Cgc>Tgc p.R1791C TCF20_uc003bck.1_Missense_Mutation_p.R1791C NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1791 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 TCTTCCGAGCGGTGGCGCCGC 0.597000 254 48 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830807 61830807 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:61830807C>T uc001jky.3 - 36 10170 c.9832G>A c.(9832-9834)Gag>Aag p.E3278K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3278 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATGTCAACCTCTTTTTCTGGG 0.463000 76 60 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613933 27613933 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:27613933C>T uc002hdy.4 - 1 1168 c.1079G>A c.(1078-1080)aGc>aAc p.S360N NUFIP2_uc002hdx.4_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA. 360 nucleus|polysomal ribosome RNA binding|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CTTAACTTTGCTTGCATAACT 0.413000 113 43 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343052 40343053 + Missense_Mutation DNP GG AA AA rs140891551 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343052_40343053GG>AA uc002hzd.3 - 4 1549_1550 c.1065_1066CC>TT c.(1063-1068)gaccgc>gaTTgc p.R356C GHDC_uc002hzg.2_Missense_Mutation_p.R356C|GHDC_uc010wgg.2_Missense_Mutation_p.R317C|GHDC_uc002hze.4_Missense_Mutation_p.R356C|GHDC_uc002hzf.4_Missense_Mutation_p.R356C NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA. 356 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) AGGCTGGCGCGGTCCGTCAGCA 0.658000 68 15 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 404102 404102 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:404102G>A uc021qbk.1 + 11 2311 c.2282G>A c.(2281-2283)cGa>cAa p.R761Q PKP3_uc001lpc.3_Missense_Mutation_p.R746Q NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 746 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) GACGGACTCCGAAAGCTCATC 0.612000 68 37 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835492 247835492 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:247835492C>T uc001idi.1 - 0 852 c.852G>A c.(850-852)ccG>ccA p.P284P NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTACACCATCGGGTTTAATG 0.438000 145 27 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020129 56020129 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56020129C>T uc010rjd.2 + 0 454 c.454C>T c.(454-456)Cac>Tac p.H152Y NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GGCTTATGATCACTATGTAGC 0.408000 132 59 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 86996214 86996214 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:86996214A>C uc003dqn.3 - 3 1305 c.941T>G c.(940-942)cTa>cGa p.L314R NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 314 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) TTGATGCTGTAGACCTGGAAC 0.363000 70 7 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64212974 64212974 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:64212974G>A uc002jfn.4 - 5 775 c.716C>T c.(715-717)tCt>tTt p.S239F NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 239 Sushi 4. 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) GCCATCCAGAGAATATCCATC 0.433000 87 42 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1507821 1507821 + Missense_Mutation SNP G A A rs145974595 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:1507821G>A uc002qwr.3 + 13 2574 c.2488G>A c.(2488-2490)Gag>Aag p.E830K TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.E830K|TPO_uc002qwx.3_Missense_Mutation_p.E773K|TPO_uc002qwu.3_Missense_Mutation_p.E773K|TPO_uc010yio.2_Missense_Mutation_p.E657K|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 830 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGACCCCTACGAGTTAGGAGA 0.562000 44 30 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155005966 155005966 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:155005966C>T uc001fgm.3 - 0 292 c.212G>A c.(211-213)gGa>gAa p.G71E DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 71 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 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) GCGAGAGAATCCCATGCCCAG 0.657000 62 80 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032166 213032166 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:213032166G>A uc001hjt.3 + 0 570 c.372G>A c.(370-372)caG>caA p.Q124Q FLVCR1-AS1_uc001hjr.4_5'Flank|FLVCR1-AS1_uc001hjs.4_5'Flank NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA. 124 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ACGCCTTTCAGTGGATCCAGT 0.612000 34 20 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112646400 112646400 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112646400G>A uc021reb.1 - 50 7896 c.7500C>T c.(7498-7500)gtC>gtT p.V2500V C12orf51_uc001ttr.1_Silent_p.V387V NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 AGCTGAGCTCGACTTTATAAT 0.453000 46 21 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584309 7584309 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:7584309C>T uc003mxp.1 + 23 7093 c.6814C>T c.(6814-6816)Ctt>Ttt p.L2272F DSP_uc003mxq.1_Missense_Mutation_p.L1673F|DSP_uc021yle.1_Missense_Mutation_p.L1829F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2272 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAACAGAAGCTTGGCATTTA 0.468000 68 39 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158549154 158549154 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:158549154G>A uc003qrc.2 - 9 1143 c.1001C>T c.(1000-1002)tCt>tTt p.S334F SERAC1_uc003qrb.2_Missense_Mutation_p.S62F NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN Homo sapiens serine active site containing 1 (SERAC1), mRNA. 334 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GCGAACTATAGAAGAATGAAG 0.358000 54 14 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720260 140720260 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140720260C>T uc003ljk.2 + 0 1907 c.1722C>T c.(1720-1722)ggC>ggT p.G574G PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.G574G NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 576 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G574G(2) 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) GTTCCACTGGCGTGGAGCTGG 0.627000 236 35 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142637533 142637533 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:142637533G>A uc003wca.2 + 1 344 c.303G>A c.(301-303)caG>caA p.Q101Q NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 76 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) AAGAAGACCAGTCGTCCAAGA 0.542000 108 33 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124578242 124578242 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:124578242G>A uc003eho.3 - 2 505 c.208C>T c.(208-210)Ctt>Ttt p.L70F NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 70 PSI. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TTTTTGACAAGGTTTGCCCTC 0.587000 71 19 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131206240 131206240 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:131206240C>T uc003qch.2 - 11 2011 c.1829G>A c.(1828-1830)gGa>gAa p.G610E EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc010kfl.2_Missense_Mutation_p.G610E|EPB41L2_uc003qcg.1_Missense_Mutation_p.G610E|EPB41L2_uc003qci.3_Missense_Mutation_p.G610E|EPB41L2_uc011eby.2_Missense_Mutation_p.G610E|EPB41L2_uc010kfk.2_Missense_Mutation_p.G610E NM_001431 NP_001422 O43491 E41L2_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA. 610 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCATACCTTTCCTTCAATGAG 0.408000 OREG0017660 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 52 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367371 107367371 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:107367371C>T uc011lvq.2 - 0 538 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GCCAGAATTTCACAGGTGAAA 0.418000 132 24 0 0 1 0 0 GDF15 9518 broad.mit.edu 37 19 18499390 18499390 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:18499390G>A uc002niv.2 + 1 604 c.572G>A c.(571-573)gGg>gAg p.G191E NM_004864 NP_004855 Q99988 GDF15_HUMAN Homo sapiens growth differentiation factor 15 (GDF15), mRNA. 191 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 GCCGCCAGGGGGCGCCGCAGA 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 5 0 0 1 0 0 ASCC1 51008 broad.mit.edu 37 10 73956612 73956612 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:73956612C>T uc001jst.2 - 5 798 c.530G>A c.(529-531)gGa>gAa p.G177E ANAPC16_uc021psn.1_Intron|ASCC1_uc001jsr.2_Missense_Mutation_p.G64E|ASCC1_uc001jss.2_Missense_Mutation_p.G149E|ASCC1_uc021pso.1_Missense_Mutation_p.G149E|ASCC1_uc001jsu.2_Missense_Mutation_p.G149E|ASCC1_uc010qju.2_Missense_Mutation_p.G170E NM_001198799 NP_001185728 Q8N9N2 ASCC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA. 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 TCTCAGGAATCCTTCCTGAAC 0.408000 13 17 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765452 124765453 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:124765452_124765453GG>AA uc001qbg.3 - 5 1076_1077 c.936_937CC>TT c.(934-939)ggcctc>ggTTtc p.L313F ROBO4_uc010sas.2_Missense_Mutation_p.L168F|ROBO4_uc001qbh.2_Missense_Mutation_p.L203F|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 313 Fibronectin type-III 1. 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) CCCCAGTGGAGGCCTCCAAGCT 0.653000 36 22 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729389 62729389 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:62729389C>T uc002yic.3 + 3 887 c.468C>T c.(466-468)atC>atT p.I156I OPRL1_uc002yid.3_Silent_p.I156I|OPRL1_uc021wgs.1_Silent_p.I156I|OPRL1_uc002yif.4_Silent_p.I151I NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 156 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 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) GCCACCCCATCCGTGCCCTCG 0.572000 94 46 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384738 108384738 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:108384738G>A uc001pkk.3 - 5 1607 c.1496C>T c.(1495-1497)tCa>tTa p.S499L EXPH5_uc010rvz.2_Missense_Mutation_p.S343L|EXPH5_uc010rvy.2_Missense_Mutation_p.S311L NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 499 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGAACTGAATGATTTCCTGCT 0.423000 46 25 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44524593 44524593 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:44524593G>A uc003tkz.3 - 1 669 c.483C>T c.(481-483)gtC>gtT p.V161V NM_015332 NP_056147 Q8IVD9 NUDC3_HUMAN Homo sapiens NudC domain containing 3 (NUDCD3), mRNA. 161 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 GTTCCCTAGGGACTTCAGCAG 0.498000 36 11 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96036835 96036835 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:96036835G>A uc003htm.4 + 6 521 c.247_splice c.e6-1 p.D83_splice BMPR1B_uc010ilb.3_Splice_Site_p.D83_splice|BMPR1B_uc003htn.4_Splice_Site_p.D83_splice NM_001203 NP_001194 O00238 BMR1B_HUMAN Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA. 83 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TTCGATTATAGGACACTCCCA 0.338000 48 20 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49845809 49845809 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:49845809G>A uc002pnh.3 - 11 1234 c.1128C>T c.(1126-1128)taC>taT p.Y376Y AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Silent_p.Y375Y|TEAD2_uc002pni.3_Silent_p.Y375Y|TEAD2_uc002pnj.3_Silent_p.Y372Y|TEAD2_uc010yao.2_Silent_p.Y244Y|TEAD2_uc010emw.3_Silent_p.Y375Y NM_003598 NP_003589 Q15562 TEAD2_HUMAN Homo sapiens TEA domain family member 2 (TEAD2), mRNA. 372 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GCAGCAGGCGGTACACAAATC 0.582000 46 19 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542749 133542749 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:133542749G>A uc002ttp.3 - 13 2009 c.1635C>T c.(1633-1635)ccC>ccT p.P545P NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 545 protein binding p.C544Y(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCATCTCTAAGGGACAGCTGC 0.562000 104 47 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2065774 2065774 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:2065774G>A uc003geq.2 + 2 829 c.829G>A c.(829-831)Ggc>Agc p.G277S NM_178557 NP_848652 Q8N9F0 NAT8L_HUMAN Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA. 277 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) CGTGCTGCCGGGCATGACCCT 0.697000 15 7 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071669 240071669 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:240071669G>A uc021plc.1 + 0 918 c.918G>A c.(916-918)agG>agA p.R306R CHRM3_uc001hyp.3_Silent_p.R306R NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 306 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCAACAGGAGGAAGTATGGCC 0.532000 39 28 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869868 174869868 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:174869868G>A uc003mcz.3 - 1 1180 c.235C>T c.(235-237)Ccc>Tcc p.P79S DRD1_uc021yia.1_Missense_Mutation_p.P79S NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 79 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCCTTCCAGGGCATGACCAGG 0.552000 50 17 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542443 28542443 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:28542443G>A uc003nlo.3 - 2 2657 c.2039C>T c.(2038-2040)tCa>tTa p.S680L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 680 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.S680L(2) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTGTCTGGTGAAAATGGTGT 0.408000 145 63 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23002101 23002101 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:23002101C>T uc003xcz.1 - 6 908 c.816G>A c.(814-816)gaG>gaA p.E272E NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 272 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity 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) GGGCATTGTCCTCCGCCCCAG 0.587000 46 29 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156879582 156879582 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156879582G>A uc001fqj.1 + 11 1567 c.1451G>A c.(1450-1452)gGa>gAa p.G484E PEAR1_uc001fqk.1_Missense_Mutation_p.G109E NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 484 integral to membrane p.G484E(2) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCCCACCCGGAACCTGGGGC 0.627000 69 17 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670677 55670677 + Nonsense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55670677G>T uc002qjl.1 - 11 1582 c.1580C>A c.(1579-1581)tCa>tAa p.S527* TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Nonsense_Mutation_p.S275*|DNAAF3_uc002qji.1_Nonsense_Mutation_p.S460*|DNAAF3_uc002qjj.1_Nonsense_Mutation_p.S507*|DNAAF3_uc002qjk.1_Nonsense_Mutation_p.S406* NM_178837 NP_849159 Q8N9W5 CS051_HUMAN Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA. 460 GCCCAGAGCTGATTCCTGGGA 0.622000 32 11 3.86212e-05 3.91204e-05 1 1 0 WRAP53 55135 broad.mit.edu 37 17 7605013 7605013 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7605013G>A uc010vuh.2 + 6 1016 c.861G>A c.(859-861)ccG>ccA p.P287P WRAP53_uc010vui.2_Silent_p.P287P|WRAP53_uc002gip.3_Silent_p.P287P|WRAP53_uc002gir.3_Silent_p.P287P|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.P254P|WRAP53_uc010vuj.2_Silent_p.P68P NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 287 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GCTTCTCCCCGGATGGCTCCC 0.602000 60 23 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2905675 2905675 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:2905675G>A uc002cry.1 - 3 525 c.459C>T c.(457-459)ttC>ttT p.F153F NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN Homo sapiens protease, serine, 22 (PRSS22), mRNA. 153 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CCCGCTCTGAGAACTGTATGG 0.602000 62 20 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031966 33031966 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:33031966C>T uc001rlj.4 - 2 339 c.224_splice c.e2-1 p.G75_splice PKP2_uc001rlk.4_Splice_Site_p.G75_splice|PKP2_uc010skj.2_Splice_Site_p.G75_splice NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 75 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GTGAAGATTTCCTGCAATCAA 0.333000 36 6 0 0 1 0 0 STK16 8576 broad.mit.edu 37 2 220111842 220111842 + Missense_Mutation SNP C G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:220111842C>G uc002vko.2 + 3 471 c.314C>G c.(313-315)aCg>aGg p.T105R GLB1L_uc002vkm.3_5'Flank|GLB1L_uc002vkn.3_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.2_Missense_Mutation_p.T105R|STK16_uc010fwf.3_Missense_Mutation_p.T105R|STK16_uc002vkp.2_Missense_Mutation_p.T105R NM_001008910 NP_001008910 O75716 STK16_HUMAN Homo sapiens serine/threonine kinase 16 (STK16), transcript variant 1, mRNA. 105 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGAGAGGTACGCTGTGGAAT 0.517000 27 19 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45860722 45860722 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:45860722C>T uc010gpt.1 + 31 4570 c.4470C>T c.(4468-4470)atC>atT p.I1490I TRPM2_uc002zet.1_Silent_p.I1440I|TRPM2_uc002zeu.1_Silent_p.I1440I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1440I|TRPM2_uc002zex.1_Silent_p.I1226I|TRPM2_uc002zey.1_Silent_p.I919I|TRPM2_uc011aff.1_Silent_p.I121I NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 1440 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ATGCCTGGATCGAGACGGTGG 0.617000 95 43 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150922683 150922683 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:150922683G>A uc003lue.4 - 8 8018 c.8005C>T c.(8005-8007)Cct>Tct p.P2669S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2669 Cadherin 23. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding 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) TTCCAGTGAGGAGGGCCTCCA 0.463000 91 7 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123471262 123471262 + Missense_Mutation SNP G A A rs111422191 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:123471262G>A uc003ego.3 - 4 571 c.289C>T c.(289-291)Cat>Tat p.H97Y MYLK_uc011bjw.2_Missense_Mutation_p.H97Y|MYLK_uc003egp.3_Missense_Mutation_p.H97Y|MYLK_uc003egq.3_Missense_Mutation_p.H97Y|MYLK_uc003egr.3_Missense_Mutation_p.H97Y|MYLK_uc003egs.3_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.H97Y|MYLK_uc003egu.1_Missense_Mutation_p.H107Y NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 97 Ig-like C2-type 1. 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) TCCTCCTCATGGACAGCATGA 0.587000 66 38 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891655 18891655 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:18891655G>A uc001rdy.3 + 0 611 c.453G>A c.(451-453)ttG>ttA p.L151L PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 151 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AGGAGTACTTGATAGCTTGCA 0.388000 65 10 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944857 46944857 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:46944857C>T uc003cqm.3 + 15 1696 c.1493C>T c.(1492-1494)cCc>cTc p.P498L PTH1R_uc021wxg.1_Missense_Mutation_p.P498L NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 498 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 AGCTACGGCCCCATGGTGTCC 0.622000 34 10 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149245817 149245817 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:149245817C>T uc003lrg.4 - 20 2395 c.2275_splice c.e20-1 p.P759_splice PDE6A_uc021yfs.1_Splice_Site_p.P678_splice NM_000440 NP_000431 P16499 PDE6A_HUMAN Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA. 759 GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCATCATGGGCTGTCATGGGG 0.428000 63 5 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111263892 111263893 + Splice_Site DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:111263892_111263893GG>AA uc003dxw.3 + 2 232 c.62_splice c.e2-1 p.G21_splice CD96_uc003dxv.3_Splice_Site_p.G21_splice|CD96_uc003dxx.3_Splice_Site_p.G21_splice|CD96_uc010hpy.1_Splice_Site_p.G21_splice NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 21 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TTTCTTTTCAGGAGTTTGGGAA 0.406000 Opitz Trigonocephaly syndrome 102 36 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980842 121980842 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:121980842C>T uc003eew.4 + 3 1398 c.960C>T c.(958-960)ttC>ttT p.F320F CASR_uc003eev.4_Silent_p.F320F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 320 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) CCATTGGATTCGCTCTGAAGG 0.577000 50 20 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294555 29294555 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:29294555G>A uc002rmt.2 - 0 2573 c.2573C>T c.(2572-2574)tCc>tTc p.S858F NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 858 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCTTGGGGGAGTTCTCTGT 0.607000 85 25 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9843463 9843464 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:9843463_9843464GG>AA uc002gmg.1 - 7 946_947 c.785_786CC>TT c.(784-786)tcc>tTT p.S262F GAS7_uc010vvc.1_Missense_Mutation_p.S76F|GAS7_uc002gmh.1_Missense_Mutation_p.S122F|GAS7_uc010vvd.1_Missense_Mutation_p.S214F|GAS7_uc002gmi.2_Missense_Mutation_p.S198F|GAS7_uc002gmj.1_Missense_Mutation_p.S202F|GAS7_uc010coh.1_Missense_Mutation_p.S202F NM_201433 NP_001124303 O60861 GAS7_HUMAN Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA. 262 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GTGAAGCCAAGGAGTTCTGAGA 0.505000 T MLL AML* 141 74 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922177 24922177 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:24922177C>T uc001ywo.3 + 0 1637 c.1163C>T c.(1162-1164)aCc>aTc p.T388I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 388 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.E387D(2) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AAAACAGAGACCATGACAAAC 0.527000 38 28 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374683 39374683 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:39374683C>T uc010hhr.2 + 1 999 c.861C>T c.(859-861)atC>atT p.I287I CCR8_uc003cjm.2_Silent_p.I204I|CCR8_uc021wwe.1_Silent_p.I287I NM_005201 NP_005192 P51685 CCR8_HUMAN Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA. 287 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity p.I287I(2) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TCACAGAAATCATTTCCTTTA 0.428000 47 11 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71410883 71410883 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:71410883G>A uc010dfm.3 - 17 2384 c.2384C>T c.(2383-2385)cCg>cTg p.P795L SDK2_uc010dfn.2_Missense_Mutation_p.P474L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 795 Fibronectin type-III 3. 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 CACATTGCCCGGAGGGACCGT 0.612000 56 6 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40976884 40976884 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:40976884C>T uc003jmh.3 + 15 2221 c.2107C>T c.(2107-2109)Cag>Tag p.Q703* C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 703 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCCTAAATGTCAGCGCTGGGA 0.388000 10 10 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217822300 217822300 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:217822300C>T uc001hlh.1 + 1 171 c.145C>T c.(145-147)Cgg>Tgg p.R49W SPATA17_uc009xdr.1_Non-coding_Transcript NM_138796 NP_620151 Q96L03 SPT17_HUMAN Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA. 49 IQ 1. cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ATGTCAAGTTCGGGCATATAT 0.308000 42 20 0 0 1 0 0 OR8U8 504189 broad.mit.edu 37 11 56143749 56143749 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56143749C>T uc001nit.2 + 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001013356 NP_001013374 P0C7N1 OR8U8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity GTCTTTGTCTCCTACATGTTC 0.488000 84 28 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52283227 52283227 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:52283227G>A uc001rzd.3 + 3 776 c.598G>A c.(598-600)Ggg>Agg p.G200R ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.G65R|ANKRD33_uc001rze.3_Missense_Mutation_p.G65R|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_Missense_Mutation_p.G65R NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 65 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGACCAGCGGGGGCTCACGGC 0.657000 35 15 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123907182 123907182 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:123907182G>A uc004bkx.1 + 18 3144 c.3113G>A c.(3112-3114)cGa>cAa p.R1038Q CNTRL_uc004bky.1_Missense_Mutation_p.R642Q|CNTRL_uc004bla.1_Missense_Mutation_p.R486Q|CNTRL_uc010mvo.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 1038 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GATCTCACCCGAGCAGAAGCT 0.527000 82 24 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151023931 151023931 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:151023931C>T uc003ilo.4 + 1 1477 c.723C>T c.(721-723)gtC>gtT p.V241V DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V241V|DCLK2_uc003iln.4_Silent_p.V241V NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 241 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) ACTCAGGAGTCGTCAAGAGGC 0.463000 45 10 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179323290 179323291 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179323290_179323291CC>TT uc002umi.4 + 4 959_960 c.603_604CC>TT c.(601-606)ttccca>ttTTca p.P202S MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.P202S NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA. 202 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CTATTGTTTTCCCAGCACATAC 0.342000 86 26 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54624244 54624244 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:54624244G>A uc021smr.1 + 12 4423 c.4423G>A c.(4423-4425)Gaa>Aaa p.E1475K UNC13C_uc021sms.1_Missense_Mutation_p.E1477K|UNC13C_uc002acl.3_Missense_Mutation_p.E307K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1477 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTACAGAGGGAAAAATTCAT 0.318000 0 2 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25456969 25456969 + Nonsense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:25456969C>T uc002wux.1 - 16 3032 c.2958G>A c.(2956-2958)tgG>tgA p.W986* NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 986 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGCCCCTGCTCCAGCTTCGTG 0.692000 65 33 0 0 1 0 0 PIN4 5303 broad.mit.edu 37 X 71417227 71417227 + Missense_Mutation SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:71417227G>T uc004eam.3 + 3 357 c.322G>T c.(322-324)Ggt>Tgt p.G108C PIN4_uc004eao.2_Intron|PIN4_uc022byu.1_Non-coding_Transcript NM_006223 NP_006214 Q9Y237 PIN4_HUMAN Homo sapiens protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) (PIN4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 83 PpiC. protein folding|rRNA processing cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle DNA binding|bent DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity large_intestine(1)|lung(2) 3 Renal(35;0.156) GGGTGACTTGGGTTGGATGAC 0.468000 27 7 1.06961e-07 1.08984e-07 1 1 0 SLC9A7 84679 broad.mit.edu 37 X 46466593 46466593 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:46466593C>T uc004dgu.1 - 16 1980 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K NM_032591 NP_115980 Q96T83 SL9A7_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA. 658 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 AGGTCGCCTTCGGTCAGGATG 0.517000 36 14 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138426007 138426007 + Silent SNP G A A rs61755418 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:138426007G>A uc011bmq.2 - 8 1524 c.1524C>T c.(1522-1524)ttC>ttT p.F508F PIK3CB_uc011bmn.2_Silent_p.F37F|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Silent_p.F112F NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 508 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P507S(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TTACCTTATCGAAGGGAGGGT 0.328000 50 18 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132161123 132161123 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:132161123G>A uc011mvf.2 - 0 1178 c.1126C>T c.(1126-1128)Cat>Tat p.H376Y USP26_uc010nrm.1_Missense_Mutation_p.H376Y NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 376 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GCATTGCCATGGAATATCTCT 0.363000 153 22 0 0 1 0 0 ARR3 407 broad.mit.edu 37 X 69489535 69489535 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:69489535A>T uc004dyb.2 + 2 100 c.32A>T c.(31-33)aAt>aTt p.N11I ARR3_uc004dya.3_Missense_Mutation_p.N11I NM_004312 NP_004303 P36575 ARRC_HUMAN Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA. 11 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 ACCAGCTCCAATGGGAAGGTG 0.527000 17 6 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205636 36205636 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:36205636G>A uc002oay.3 + 1 318 c.108G>A c.(106-108)ggG>ggA p.G36G ZBTB32_uc002oaz.3_Non-coding_Transcript NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 36 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACCGTAGGGAGCCAGGAGT 0.642000 71 38 0 0 1 0 0 WDR69 164781 broad.mit.edu 37 2 228758521 228758521 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:228758521G>A uc002vpn.1 + 4 407 c.328G>A c.(328-330)Gga>Aga p.G110R WDR69_uc010zlw.1_Missense_Mutation_p.G95R|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 110 p.T109I(1)|p.G110V(1) breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTTTATCACAGGAAGCTATGA 0.443000 37 19 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99848959 99848959 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:99848959C>T uc004efy.4 + 2 474 c.248C>T c.(247-249)cCt>cTt p.P83L TNMD_uc004efz.2_Missense_Mutation_p.P83L NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN Homo sapiens tenomodulin (TNMD), mRNA. 83 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 GAAATTGATCCTGTGACCAGA 0.408000 85 12 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75102049 75102049 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:75102049G>A uc001dgg.3 - 5 737 c.518C>T c.(517-519)cCt>cTt p.P173L C1orf173_uc001dgi.4_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 173 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCTACTGCAGGATTACTGGG 0.418000 242 30 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494303 7494303 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:7494303G>A uc003bqm.2 + 5 1458 c.1184G>A c.(1183-1185)aGa>aAa p.R395K GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R395K|GRM7_uc003bql.2_Missense_Mutation_p.R395K|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 395 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGACAGGAGAGAATTGGAAAA 0.418000 37 23 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235414 3235414 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:3235414G>A uc004crg.4 - 5 6465 c.6308C>T c.(6307-6309)cCc>cTc p.P2103L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2103 Ig-like C2-type 5. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTCCCGTTGGGGAAAACAAA 0.677000 21 5 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997885 115997885 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:115997885C>T uc003ibu.3 - 1 987 c.308G>A c.(307-309)cGa>cAa p.R103Q NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 103 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTACTGAAATCGGCTGGACTC 0.408000 53 28 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004063 187004063 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:187004063C>T uc003iyq.3 + 3 1324 c.1223C>T c.(1222-1224)cCc>cTc p.P408L TLR3_uc011ckz.2_Missense_Mutation_p.P131L|TLR3_uc003iyr.3_Missense_Mutation_p.P131L NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 408 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|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 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GCTCATTCTCCCTTACACATA 0.373000 28 12 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574334 28574334 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:28574334C>T uc003xgz.1 + 2 1351 c.758C>T c.(757-759)cCt>cTt p.P253L NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 253 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GTGCTGCGGCCTGCTGAGCTG 0.522000 57 15 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518303 113518303 + Silent SNP C T T rs150965727 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:113518303C>T uc010ljy.1 - 3 2875 c.2844G>A c.(2842-2844)acG>acA p.T948T NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 948 glycogen metabolic process integral to membrane p.T948T(6)|p.T948M(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTCTGATTTCGTAGAAATAG 0.378000 77 14 0 0 1 0 0 SAA2-SAA4 100528017 broad.mit.edu 37 11 18267499 18267499 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:18267499G>A uc021qel.1 - 2 264 c.188C>T c.(187-189)gCc>gTc p.A63V SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.A63V|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.A63V NM_001199744 NP_001186673 Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA. TCCCCTTTTGGCAGCATCATA 0.572000 58 7 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189872299 189872299 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:189872299G>A uc002uqj.1 + 44 3446 c.3329G>A c.(3328-3330)gGa>gAa p.G1110E NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1110 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGACATCGAGGATTCCCTGGT 0.428000 15 5 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878833 5878833 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:5878833C>T uc010qzr.2 - 0 100 c.100G>A c.(100-102)Gga>Aga p.G34R TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGGACTCCAATCCAAATG 0.458000 70 51 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58496393 58496393 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:58496393A>G uc002yaz.3 - 2 279 c.140T>C c.(139-141)tTc>tCc p.F47S SYCP2_uc010gju.1_5'Flank NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 47 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CACCTTGTGGAAAAACTGTTT 0.303000 11 9 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598265 81598265 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:81598265G>A uc003uhr.1 - 28 2589 c.2333C>T c.(2332-2334)tCg>tTg p.S778L CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 790 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATAATGCCCGATTCATAGGC 0.279000 120 18 0 0 1 0 0 C14orf102 55051 broad.mit.edu 37 14 90745472 90745472 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:90745472G>A uc001xyi.2 - 12 3536 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S C14orf102_uc010atp.1_Silent_p.S606S|C14orf102_uc001xyj.2_Silent_p.S870S NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA. 1101 protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1) 39 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) TATTTCCTAAGGAAACCTGAG 0.468000 146 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069347 9069347 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9069347G>A uc002mkp.3 - 2 18303 c.18099C>T c.(18097-18099)tcC>tcT p.S6033S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6035 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 CGGATGGCTGGGAGTGGATTG 0.438000 123 39 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67174417 67174417 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67174417C>T uc001ola.3 + 7 797 c.768C>T c.(766-768)ttC>ttT p.F256F PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 256 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCGAGTGGTTCCTGTGCCTCT 0.682000 181 53 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625434 31625434 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:31625434C>T uc010zuc.2 + 7 736 c.736C>T c.(736-738)Cct>Tct p.P246S BPIFB6_uc010zud.2_Missense_Mutation_p.P185S NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 246 extracellular region lipid binding CCTCACGTTCCCTGAGGGTTA 0.577000 74 27 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457974 20457974 + Missense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:20457974C>A uc002zsd.4 - 0 3813 c.3328G>T c.(3328-3330)Gtg>Ttg p.V1110L RN7SK_uc021wlw.1_5'Flank NM_015672 NP_056487 Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TCAATGGTCACAGGGAGCCAG 0.602000 52 6 2.5808e-16 2.65471e-16 1 1 0 ASB14 142686 broad.mit.edu 37 3 57310699 57310699 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:57310699C>T uc021wzs.1 - 8 1714 c.1643G>A c.(1642-1644)cGg>cAg p.R548Q ASB14_uc003dip.1_Missense_Mutation_p.R263Q|ASB14_uc003diq.3_Missense_Mutation_p.R384Q NM_001142733 NP_001136205 A6NK59 ASB14_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 14 (ASB14), transcript variant 1, mRNA. 548 SOCS box. intracellular signal transduction central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CAAATGTAACCGTCCCATGCA 0.408000 43 18 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7805253 7805253 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:7805253C>T uc001qtb.3 - 2 257 c.223G>A c.(223-225)Gat>Aat p.D75N APOBEC1_uc001qtc.3_Missense_Mutation_p.D30N NM_001644 NP_001635 P41238 ABEC1_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA. 75 DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm RNA binding|cytidine deaminase activity|zinc ion binding p.R74T(1) kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 GGGTGAAAATCTCTTTCTGAC 0.478000 26 11 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044242 119044242 + Missense_Mutation SNP G A A rs144665491 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:119044242G>A uc001lde.1 - 4 2201 c.2002C>T c.(2002-2004)Cct>Tct p.P668S NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 668 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCCTTAGTAGGGCAGGAAGTT 0.428000 61 6 0 0 1 0 0 ZNF367 195828 broad.mit.edu 37 9 99157137 99157137 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99157137G>A uc004awf.3 - 2 1014 c.659C>T c.(658-660)aCc>aTc p.T220I ZNF367_uc004awg.3_Missense_Mutation_p.T220I NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN Homo sapiens zinc finger protein 367 (ZNF367), mRNA. 220 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) TTTCTCTCCGGTGTGAAGACG 0.398000 34 14 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750003 30750003 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:30750003C>T uc002dze.1 + 33 9027 c.8642C>T c.(8641-8643)cCc>cTc p.P2881L SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2676L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2881 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GATGAGGCACCCTCATCCACC 0.582000 41 15 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69431339 69431339 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:69431339A>G uc021xov.1 - 1 867 c.824T>C c.(823-825)gTt>gCt p.V275A NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 275 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AACAAAATCAACATTTGGTAA 0.403000 113 54 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25966697 25966697 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:25966697C>T uc002rgs.2 - 11 2730 c.2509G>A c.(2509-2511)Ggt>Agt p.G837S ASXL2_uc002rgt.1_Splice_Site_p.G577_splice NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 837 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGCAGGACCTGTTGGAGAA 0.517000 171 49 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440152 135440152 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:135440152T>C uc010qvg.2 - 0 148 c.95A>G c.(94-96)aAg>aGg p.K32R NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 32 nucleus 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) ATCTGAGCCCTTTTCTGTAAA 0.502000 102 6 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22362919 22362919 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22362919G>A uc021rpj.1 + 1 221 c.50G>A c.(49-51)gGa>gAa p.G17E TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor; GTTGCAGGAGGAACCAGAGCC 0.483000 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 13 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325344 9325344 + Missense_Mutation SNP G A A rs149523827 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9325344G>A uc002mla.2 - 0 204 c.170C>T c.(169-171)aCc>aTc p.T57I NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GTACATGGGGGTGTGGAGGTG 0.557000 79 48 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20109840 20109840 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:20109840G>A uc003ncx.1 - 11 1555 c.1350C>T c.(1348-1350)atC>atT p.I450I MBOAT1_uc011dji.1_Silent_p.I301I NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA. 450 I -> V (in dbSNP:rs2065649). phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TGTATAAGCTGATGGTCGGTT 0.468000 116 10 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130872803 130872803 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:130872803C>T uc010fmh.2 - 3 1020 c.620G>A c.(619-621)aGg>aAg p.R207K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 207 cell cortex ATP binding p.K206R(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGAGCTGTCCTCTTTTTGTT 0.398000 76 8 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169572424 169572424 + Silent SNP G A A rs145585796 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:169572424G>A uc001ggi.4 - 9 1610 c.1545C>T c.(1543-1545)agC>agT p.S515S SELP_uc001ggh.3_Silent_p.S350S|SELP_uc009wvr.3_Silent_p.S515S NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 515 Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CATTCTGAGGGCTTAGCAAAG 0.428000 149 27 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178203 223178203 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:223178203C>T uc001hnu.2 + 9 3790 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1155 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) AGTGCCTTTTCCCATGCCTTG 0.473000 48 29 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2226890 2226890 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:2226890C>T uc002lvc.1 + 12 3019 c.2252C>T c.(2251-2253)tCc>tTc p.S751F DOT1L_uc002lvb.4_Missense_Mutation_p.S1457F NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1457 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) GCGGCGTCCTCCGCCCAGACG 0.766000 12 10 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210411442 210411442 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:210411442C>T uc001hhy.3 + 1 316 c.137C>T c.(136-138)cCt>cTt p.P46L SERTAD4_uc009xcw.3_Missense_Mutation_p.P46L NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA. 46 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) GCACAAGCTCCTTTGCAGGGA 0.642000 56 40 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456251 5456251 + Missense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:5456251C>A uc002mca.4 + 0 826 c.749C>A c.(748-750)cCc>cAc p.P250H NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 250 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGCTGTCACCCCGTGCTGACC 0.687000 72 16 2.62699e-14 2.68939e-14 1 1 0 THRB 7068 broad.mit.edu 37 3 24169111 24169111 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:24169111C>T uc003ccz.4 - 10 1543 c.1023G>A c.(1021-1023)ctG>ctA p.L341L THRB_uc010hfe.3_Silent_p.L341L|THRB_uc003ccy.4_Silent_p.L341L|THRB_uc003ccx.4_Silent_p.L341L NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 341 Interaction with NR2F6.|Ligand-binding. L -> P (in GTHR). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) CCCCATTTTTCAGCTGGCCCC 0.537000 166 19 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121528218 121528218 + Missense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:121528218T>A uc003ypc.1 + 17 2078 c.2033T>A c.(2032-2034)cTt>cAt p.L678H NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA. 678 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTTCTGAACTTCAGTCTCGT 0.403000 55 55 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306773 41306773 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:41306773C>T uc002xkg.3 - 6 1070 c.886G>A c.(886-888)Gag>Aag p.E296K PTPRT_uc010ggj.3_Missense_Mutation_p.E296K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 296 Fibronectin type-III 1. 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) GCCAGCAGCTCTGGGGGAGCA 0.517000 31 11 0 0 1 0 0 LOC401010 401010 broad.mit.edu 37 2 132200789 132200790 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:132200789_132200790GG>AA uc002tst.2 - 0 1678_1679 c.1212_1213CC>TT c.(1210-1215)ctccgg>ctTTgg p.R405W Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. TTGCACTCCCGGAGGAACGACT 0.634000 14 9 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049603 69049603 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:69049603C>T uc010fdg.3 + 9 1751 c.1332C>T c.(1330-1332)ctC>ctT p.L444L ARHGAP25_uc010yql.2_Silent_p.L404L|ARHGAP25_uc002sew.3_Silent_p.L436L|ARHGAP25_uc002sex.3_Silent_p.L437L NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 443 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.L444F(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTCAAACACTCCCTAACCGGA 0.483000 111 50 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1511669 1511669 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:1511669C>T uc002clv.2 - 2 330 c.220G>A c.(220-222)Gac>Aac p.D74N CLCN7_uc002clw.2_Missense_Mutation_p.D50N NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 74 integral to membrane|lysosomal membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) TGTGGAGGGTCCATATCCTGT 0.567000 20 15 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43616546 43616546 + Nonsense_Mutation SNP T A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:43616546T>A uc003bdt.2 - 13 1724 c.1597A>T c.(1597-1599)Aag>Tag p.K533* NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 533 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) CGGCGCCTCTTCTTGGAGGAG 0.582000 182 20 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211847733 211847733 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:211847733C>T uc001hir.2 - 1 370 c.219G>A c.(217-219)cgG>cgA p.R73R NEK2_uc021piq.1_Silent_p.R73R|NEK2_uc001his.4_Silent_p.R73R|NEK2_uc001hit.2_Non-coding_Transcript NM_002497 NP_002488 P51955 NEK2_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA. 73 Protein kinase. G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) GGTCAATAATCCGATCATAGT 0.408000 33 23 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5286426 5286426 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:5286426G>A uc002gbm.4 + 17 2721 c.2497G>A c.(2497-2499)Gag>Aag p.E833K RABEP1_uc010vsw.1_Missense_Mutation_p.E790K|RABEP1_uc002gbl.4_Missense_Mutation_p.E800K|NUP88_uc002gbn.3_Intron NM_004703 NP_004694 Q15276 RABE1_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA. 833 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome GTPase activator activity|growth factor activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGTGCAGTTAGAGCGGATCCG 0.463000 39 19 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66048603 66048603 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:66048603A>T uc002api.3 - 2 571 c.186T>A c.(184-186)gaT>gaA p.D62E DENND4A_uc002aph.3_Missense_Mutation_p.D62E|DENND4A_uc002apj.3_Missense_Mutation_p.D62E|DENND4A_uc010ujj.1_Missense_Mutation_p.D62E NM_001144823 NP_001138295 Q7Z401 MYCPP_HUMAN Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA. 62 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TACAGATATAATCCTGTGGGA 0.383000 19 3 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46365660 46365660 + Missense_Mutation SNP G A A rs116489181 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:46365660G>A uc002xto.3 - 2 532 c.202C>T c.(202-204)Cgg>Tgg p.R68W SULF2_uc002xtr.3_Missense_Mutation_p.R68W|SULF2_uc002xtq.3_Missense_Mutation_p.R68W|SULF2_uc010ghv.1_Missense_Mutation_p.R68W NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA. 68 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATGATGCGCCGGGTCTTGTTC 0.637000 56 25 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47405404 47405405 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:47405404_47405405CC>TT uc002leb.2 - 23 3474_3475 c.3186_3187GG>AA c.(3184-3189)gaggag>gaAAag p.E1063K MYO5B_uc002lea.2_Missense_Mutation_p.E204K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1063 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) CGGGATCGCTCCTCCTCCAGTT 0.470000 39 29 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237272523 237272523 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:237272523G>A uc002vwb.2 - 14 1827 c.1793C>T c.(1792-1794)aCc>aTc p.T598I IQCA1_uc002vvz.1_Missense_Mutation_p.T590I|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.T549I NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 590 ATP binding p.T598T(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TCCCGTTTCGGTGCAGATGGC 0.517000 70 31 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910085 57910085 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:57910085C>T uc002qon.3 + 3 716 c.466C>T c.(466-468)Cac>Tac p.H156Y ZNF548_uc002qom.3_Missense_Mutation_p.H144Y|ZNF17_uc021vck.1_Intron NM_001172773 NP_001166244 Q8NEK5 ZN548_HUMAN Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGGAAGAACCACAGAGTTCA 0.488000 62 18 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61914872 61914872 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:61914872G>A uc010deb.1 - 1 647 c.330C>T c.(328-330)acC>acT p.T110T SMARCD2_uc010wpt.1_Silent_p.T62T|SMARCD2_uc010dea.1_Silent_p.T35T 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. 110 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 GATCCATCATGGTGGGTGGCA 0.647000 116 6 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215955511 215955511 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:215955511C>T uc001hku.1 - 53 11000 c.10613G>A c.(10612-10614)cGa>cAa p.R3538Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3538 Fibronectin type-III 20. 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) AATTCCATTTCGAAGAAGGAT 0.348000 HNSCC(13;0.011) 40 5 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12638571 12638571 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:12638571G>A uc002mty.3 - 3 561 c.351C>T c.(349-351)tcC>tcT p.S117S ZNF709_uc002mtx.4_Intron NM_144976 NP_659413 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 564 (ZNF564), mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GCCTACTAAGGGATGAATGAT 0.383000 65 25 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9351884 9351884 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:9351884G>A uc021wam.1 + 6 542 c.527G>A c.(526-528)gGa>gAa p.G176E PLCB4_uc010gbw.1_Missense_Mutation_p.G176E|PLCB4_uc010gbx.3_Missense_Mutation_p.G176E|PLCB4_uc021wal.1_Missense_Mutation_p.G176E|PLCB4_uc002wnh.3_Missense_Mutation_p.G23E NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 176 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.G176E(2)|p.S175S(1) 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 TTTGCATCGGGAAAAACAGAA 0.353000 93 24 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32097668 32097668 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:32097668G>A uc003alp.4 - 6 6274 c.6081C>T c.(6079-6081)acC>acT p.T2027T PRR14L_uc003alo.2_Silent_p.T1826T|PRR14L_uc010gwj.1_Intron NM_173566 NP_775837 Q5THK1 PR14L_HUMAN Homo sapiens proline rich 14-like (PRR14L), mRNA. 2027 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GGCCCATGGGGGTAAGATTAG 0.423000 17 27 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223165399 223165399 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:223165399A>G uc001hnu.2 + 7 1162 c.836A>G c.(835-837)aAa>aGa p.K279R NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 279 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GAAAGAGAGAAAAGAGAAGTT 0.403000 40 5 0 0 1 0 0 C9orf174 100499483 broad.mit.edu 37 9 100116928 100116928 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:100116928G>A uc011lut.2 + 36 4635 c.3629G>A c.(3628-3630)cGg>cAg p.R1210Q C9orf174_uc004axe.2_Missense_Mutation_p.R1042Q|C9orf174_uc011lus.2_Missense_Mutation_p.R860Q|C9orf174_uc004axg.2_Missense_Mutation_p.R1071Q|C9orf174_uc004axh.2_Non-coding_Transcript NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 1201 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 GAAGCTGCCCGGATAGAGTTG 0.483000 66 30 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741442 48741442 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:48741442G>A uc002isl.3 + 9 1388 c.1308G>A c.(1306-1308)caG>caA p.Q436Q ABCC3_uc002isk.4_Silent_p.Q436Q|ABCC3_uc002ism.3_Missense_Mutation_p.D149N NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 436 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CACCCCTGCAGATCATCCTGG 0.557000 95 48 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62121441 62121441 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:62121441G>A uc002jdz.2 - 21 2954 c.2841C>T c.(2839-2841)gcC>gcT p.A947A DQ572107_uc002jdy.1_5'Flank NM_001433 NP_001424 O75460 ERN1_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA. 947 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 ACAGCTCCATGGCCCGGTAGG 0.657000 72 31 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216833 78216833 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:78216833C>A uc022bzl.1 + 0 816 c.816C>A c.(814-816)acC>acA p.T272T P2RY10_uc004ede.3_Silent_p.T272T|P2RY10_uc004edf.3_Silent_p.T272T NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 272 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TAAAGGAAACCATCATTAGCA 0.428000 252 45 5.20006e-24 5.3811e-24 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32632525 32632525 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:32632525G>A uc003zrg.1 - 0 3143 c.3053C>T c.(3052-3054)tCc>tTc p.S1018F AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1018 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATTTTTCAGGGAAAGGCGACG 0.458000 131 107 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198274577 198274577 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:198274577G>A uc002uue.3 - 6 869 c.821C>T c.(820-822)cCa>cTa p.P274L NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 274 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CGCATGGCCTGGTGTATCACC 0.547000 Mis myelodysplastic syndrome 175 79 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995620 140995620 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140995620C>T uc004fbt.3 + 3 2754 c.2430C>T c.(2428-2430)ctC>ctT p.L810L MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L469L NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 810 protein binding p.P809A(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTCCTCTCCAGAGTCCTG 0.552000 HNSCC(15;0.026) 317 120 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169951956 169951956 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:169951956A>T uc001ggv.3 - 13 1830 c.1559T>A c.(1558-1560)tTt>tAt p.F520Y KIFAP3_uc021pep.1_Missense_Mutation_p.F480Y|KIFAP3_uc010ply.2_Missense_Mutation_p.F442Y|KIFAP3_uc001ggw.2_Missense_Mutation_p.F476Y|KIFAP3_uc010plx.2_Missense_Mutation_p.F222Y NM_014970 NP_001191446 Q92845 KIFA3_HUMAN Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA. 520 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCAATCACAAACTCCTCTTC 0.323000 59 73 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589591 140589591 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140589591G>A uc003liz.3 + 0 1301 c.1112G>A c.(1111-1113)cGa>cAa p.R371Q PCDHB12_uc011dak.2_Missense_Mutation_p.R34Q NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 371 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R371Q(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGGATACGAGACAGAGAC 0.433000 82 19 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064434 78064435 + Missense_Mutation DNP CC TT TT TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:78064434_78064435CC>TT uc002ffh.4 + 2 371_372 c.290_291CC>TT c.(289-291)tcc>tTT p.S97F CLEC3A_uc021tlr.1_Missense_Mutation_p.S45F NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 97 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GACTGCATTTCCAAAGGAGGAA 0.475000 56 15 0 0 1 0 0 C8orf73 642475 broad.mit.edu 37 8 144650795 144650795 + Missense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:144650795A>T uc010mff.3 - 9 1615 c.1571T>A c.(1570-1572)cTg>cAg p.L524Q C8orf73_uc010mfg.1_Silent_p.P536P NM_001100878 NP_001094348 A6NGR9 CH073_HUMAN Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA. 524 Leu-rich. binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGCTTCCGCAgggggccgcg 0.736000 2 2 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101707749 101707749 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:101707749G>A uc001vox.1 - 43 5304 c.5115C>T c.(5113-5115)ccC>ccT p.P1705P NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1705 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) CGTCAGTCATGGGGTTCATTT 0.502000 132 30 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328601 152328601 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152328601G>A uc001ezw.4 - 2 1734 c.1661C>T c.(1660-1662)tCt>tTt p.S554F AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 554 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCATAGCCAGATGATTGACT 0.498000 642 146 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120295927 120295927 + Nonsense_Mutation SNP G A A rs137852637 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120295927G>A uc001eid.3 - 6 1358 c.1270C>T c.(1270-1272)Cga>Tga p.R424* HMGCS2_uc010oxj.2_Nonsense_Mutation_p.R382*|HMGCS2_uc021osw.1_Nonsense_Mutation_p.R190* NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 424 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity p.R424L(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TGGGATACTCGAAATGAAAAG 0.478000 15 14 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111409736 111409736 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:111409736G>A uc003iab.4 + 1 1026 c.684G>A c.(682-684)agG>agA p.R228R NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 228 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAGATGCCAGGAAATCTTTTC 0.423000 31 10 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99581330 99581330 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99581330G>A uc004awp.1 - 5 1256 c.975C>T c.(973-975)ctC>ctT p.L325L ZNF782_uc011lup.1_Silent_p.L193L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN Homo sapiens zinc finger protein 782 (ZNF782), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) GATGCACTGGGAGGGTTGAAT 0.398000 96 42 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40937767 40937767 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:40937767G>A uc003jmh.3 + 5 656 c.542G>A c.(541-543)gGa>gAa p.G181E C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 181 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGGCTGAGTGGAAATGTCCTG 0.378000 18 4 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146575266 146575266 + Missense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:146575266C>A uc003ikh.4 + 5 1025 c.940C>A c.(940-942)Cgc>Agc p.R314S MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 314 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAATTACTCCGCAAACGTTC 0.428000 109 45 2.00842e-17 2.07088e-17 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10370631 10370631 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:10370631G>A uc003bvt.3 - 22 4038 c.3599C>T c.(3598-3600)tCg>tTg p.S1200L ATP2B2_uc003bvv.3_Missense_Mutation_p.S1155L|ATP2B2_uc003bvw.3_Missense_Mutation_p.S1155L|ATP2B2_uc003bvs.3_Non-coding_Transcript|ATP2B2_uc010hdo.3_Missense_Mutation_p.S905L NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 1200 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGGCGGGCTCGAGTTCTGCTT 0.552000 57 22 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39036430 39036430 + Silent SNP G T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:39036430G>T uc002hvl.3 - 3 772 c.714C>A c.(712-714)atC>atA p.I238I NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 238 Linker 12.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTTCATTCATGATGACGCCAA 0.463000 129 12 6.40141e-05 6.46138e-05 1 1 0 DNASE1L3 1776 broad.mit.edu 37 3 58196588 58196588 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58196588G>A uc003djo.1 - 0 143 c.46C>T c.(46-48)Cac>Tac p.H16Y DNASE1L3_uc011bfd.1_Missense_Mutation_p.H16Y|DNASE1L3_uc003djp.1_Missense_Mutation_p.H16Y|DNASE1L3_uc003djq.1_Missense_Mutation_p.H16Y NM_004944 NP_004935 Q13609 DNSL3_HUMAN Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA. 16 DNA catabolic process|apoptosis nucleus DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters p.H16Y(2) breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) AGGGCGCTGTGGATGGAGAGG 0.567000 77 43 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456735 48456735 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:48456735G>A uc003csw.2 - 19 4086 c.3816C>T c.(3814-3816)gtC>gtT p.V1272V PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.V1089V|PLXNB1_uc003csx.2_Silent_p.V1272V|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'UTR NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1272 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGGCCACGGACGCATATCT 0.587000 27 13 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949143 37949143 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:37949143C>T uc002hsu.3 - 3 269 c.207G>A c.(205-207)gaG>gaA p.E69E IKZF3_uc002htd.3_Silent_p.E35E|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.E35E|IKZF3_uc010cwe.3_Silent_p.E69E|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.E69E|IKZF3_uc002hsx.3_Silent_p.E69E|IKZF3_uc002hsy.3_Silent_p.E69E|IKZF3_uc002hsz.3_Silent_p.E69E|IKZF3_uc002hta.3_Silent_p.E69E|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 69 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTAAAACATTCTCATCTCTTT 0.348000 50 24 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4737001 4737001 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:4737001G>A uc001qnb.4 - 3 1311 c.1067C>T c.(1066-1068)tCg>tTg p.S356L NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 356 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTTCACAGCCGAGACAAACTG 0.473000 60 23 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236440 33236440 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:33236440C>T uc001bvu.1 + 5 1704 c.1660C>T c.(1660-1662)Cca>Tca p.P554S KIAA1522_uc010ohm.1_Missense_Mutation_p.P506S|KIAA1522_uc001bvv.2_Missense_Mutation_p.P495S|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 495 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCCACCCAACCCAGCCAACAG 0.677000 15 3 0 0 1 0 0 DDOST 1650 broad.mit.edu 37 1 20979418 20979419 + Missense_Mutation DNP GG AA AA TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:20979418_20979419GG>AA uc001bdo.1 - 8 1182_1183 c.1039_1040CC>TT c.(1039-1041)ccc>TTc p.P347F DDOST_uc010odd.1_Missense_Mutation_p.P146F|DDOST_uc010ode.1_Missense_Mutation_p.P310F NM_005216 NP_005207 P39656 OST48_HUMAN Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA. 347 T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCATCAAAGGGGACCCATTTG 0.515000 45 30 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220586 118220586 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118220586G>A uc004era.4 - 10 4607 c.4607C>T c.(4606-4608)tCt>tTt p.S1536F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1536 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGCAACGTAAGATATTTTGGT 0.512000 48 36 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161514565 161514565 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:161514565C>T uc001gar.3 - 3 795 c.611G>A c.(610-612)gGc>gAc p.G204D FCGR3A_uc001gas.3_Missense_Mutation_p.G203D|FCGR3A_uc001gat.4_Missense_Mutation_p.G168D|FCGR3A_uc009wuh.3_Missense_Mutation_p.G167D|FCGR3A_uc009wui.3_Missense_Mutation_p.G168D NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 168 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAAGTAGGAGCCGCTGTCTTT 0.448000 80 62 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18971692 18971692 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:18971692G>A uc002nkg.3 + 16 2666 c.2391G>A c.(2389-2391)aaG>aaA p.K797K UPF1_uc002nkf.3_Silent_p.K786K|UPF1_uc002nkh.3_Silent_p.K41K NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 797 DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CAGGCGCCAAGCCGGACCAGA 0.607000 11 8 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139311 178139311 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:178139311C>T uc003mjj.3 - 4 1766 c.1568G>A c.(1567-1569)cGa>cAa p.R523Q NM_005649 NP_005640 O60765 Z354A_HUMAN Homo sapiens zinc finger protein 354A (ZNF354A), mRNA. 523 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTCCTCACATCGATATGGTTT 0.388000 105 28 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9516192 9516192 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:9516192G>A uc003brt.3 + 20 3992 c.3557G>A c.(3556-3558)cGa>cAa p.R1186Q SETD5_uc003bru.3_Missense_Mutation_p.R1088Q|SETD5_uc003brv.3_Missense_Mutation_p.R1075Q|SETD5_uc010hck.3_Missense_Mutation_p.R668Q|SETD5_uc003brx.3_Missense_Mutation_p.R855Q NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 1186 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AAGGTCCTCCGAAGCAGCGTG 0.562000 90 37 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30419615 30419615 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:30419615G>A uc002wwq.2 + 10 1636 c.1534G>A c.(1534-1536)Gag>Aag p.E512K MYLK2_uc002wws.2_Missense_Mutation_p.E129K|MYLK2_uc010gdw.1_Non-coding_Transcript NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA. 512 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity p.E512K(2)|p.D511D(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGTATCAGACGAGGCCAAAGA 0.512000 66 28 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502327 20502327 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20502327G>A uc010tkz.2 - 0 591 c.591C>T c.(589-591)ctC>ctT p.L197L NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAATGACCAGGAGCTGTAGGA 0.483000 69 16 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79461835 79461835 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:79461835G>A uc003hlb.2 + 73 12036 c.11596G>A c.(11596-11598)Gat>Aat p.D3866N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3861 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATCCTTGATGATTCCCTCAT 0.552000 22 12 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002676 122002676 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:122002676C>T uc003eew.4 + 6 2343 c.1905C>T c.(1903-1905)ttC>ttT p.F635F CASR_uc003eev.4_Silent_p.F625F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 625 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) TGGGCATTTTCCTGACAGCCT 0.552000 77 11 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493230 6493230 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:6493230G>A uc002gde.4 - 17 3014 c.2655C>T c.(2653-2655)ggC>ggT p.G885G KIAA0753_uc010vtd.2_Silent_p.G341G|KIAA0753_uc010clo.3_Silent_p.G586G|KIAA0753_uc010vte.2_Silent_p.G586G NM_014804 NP_055619 Q2KHM9 K0753_HUMAN Homo sapiens KIAA0753 (KIAA0753), mRNA. 885 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GGGGAGCTCGGCCTTCTTTCT 0.512000 48 11 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044567 179044567 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:179044567G>A uc021yjd.1 - 7 1036 c.1005C>T c.(1003-1005)ttC>ttT p.F335F HNRNPH1_uc011dgn.2_Silent_p.F65F|HNRNPH1_uc003mkf.4_Silent_p.F335F|HNRNPH1_uc003mkg.4_Silent_p.F243F|HNRNPH1_uc003mke.4_Silent_p.F335F|HNRNPH1_uc003mkh.4_Silent_p.F335F NM_005520 NP_005511 P31943 HNRH1_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA. 335 2 X 16 AA Gly-rich approximate repeats.|RRM 3. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 CATGAGTTGCGAACTCGACAT 0.438000 91 78 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38647610 38647610 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38647610C>T uc021wvo.1 - 8 1222 c.1170G>A c.(1168-1170)atG>atA p.M390I SCN5A_uc021wvk.1_Missense_Mutation_p.M390I|SCN5A_uc021wvl.1_Missense_Mutation_p.M390I|SCN5A_uc021wvm.1_Missense_Mutation_p.M390I|SCN5A_uc021wvn.1_Missense_Mutation_p.M390I|SCN5A_uc021wvp.1_Missense_Mutation_p.M390I|SCN5A_uc021wvq.1_Missense_Mutation_p.M390I|SCN5A_uc021wvr.1_Missense_Mutation_p.M390I|SCN5A_uc021wvs.1_Missense_Mutation_p.M390I|SCN5A_uc021wvt.1_Missense_Mutation_p.M390I|SCN5A_uc021wvu.1_Missense_Mutation_p.M390I|SCN5A_uc021wvv.1_Missense_Mutation_p.M390I|SCN5A_uc021wvj.1_Missense_Mutation_p.M256I|SCN5A_uc021wvi.1_Missense_Mutation_p.M256I|SCN5A_uc021wvw.1_Missense_Mutation_p.M1I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 390 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGAAGAAGATCATGTAGATCT 0.567000 43 19 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976164 4976164 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:4976164G>A uc010qyt.2 - 0 780 c.780C>T c.(778-780)gcC>gcT p.A260A NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGGACAACGGCCAGGTTGA 0.468000 78 10 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580499 140580499 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140580499C>A uc003liy.3 + 0 1152 c.1152C>A c.(1150-1152)tcC>tcA p.S384S NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 384 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTTTGTTCCATTCCGGAAG 0.448000 104 37 9.8876e-21 1.02073e-20 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168100111G>A uc002udx.3 + 8 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E562K|XIRP2_uc010fpq.3_Missense_Mutation_p.E515K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 562 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAATGTTTCGAAACTCAACC 0.373000 53 21 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37004998 37004998 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:37004998G>A uc002oee.2 - 3 2065 c.1143C>T c.(1141-1143)atC>atT p.I381I ZNF260_uc010eey.2_Silent_p.I381I|ZNF260_uc002oef.2_Silent_p.I381I|ZNF260_uc002oed.2_Silent_p.I381I|ZNF260_uc021uti.1_Silent_p.I381I NM_001012756 NP_001159510 Q3ZCT1 ZN260_HUMAN Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA. 381 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) CACCAGTATGGATTCTCATGT 0.408000 91 22 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960280 33960280 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:33960280C>T uc001bxj.4 + 7 2503 c.2336C>T c.(2335-2337)tCt>tTt p.S779F ZSCAN20_uc009vui.3_Missense_Mutation_p.S778F NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 779 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGTGACCATTCTAATCTCATC 0.428000 110 18 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227963492 227963492 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:227963492G>A uc021vxr.1 - 17 1223 c.1122C>T c.(1120-1122)ttC>ttT p.F374F COL4A4_uc021vxs.1_Silent_p.F374F NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 374 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) AGCGGCCAGGGAACCCTGGGT 0.502000 44 22 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025619 203025619 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:203025619C>T uc009xaj.3 + 22 2598 c.2598C>T c.(2596-2598)agC>agT p.S866S PPFIA4_uc010pqf.2_Silent_p.S448S|PPFIA4_uc001gyz.3_Silent_p.S235S|PPFIA4_uc001gza.3_Silent_p.S235S|PPFIA4_uc001gzb.1_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 235 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CAGCCCTGAGCCAGGAAGAAG 0.572000 49 10 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685744 248685744 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248685744G>A uc001ien.1 + 0 797 c.797G>A c.(796-798)aGa>aAa p.R266K NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265K(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAATAGGAGATCCAAAAAC 0.443000 67 76 0 0 1 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874828 117874828 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:117874828T>C uc003vji.3 + 2 541 c.368T>C c.(367-369)aTt>aCt p.I123T NM_019644 NP_062618 Q92527 ANKR7_HUMAN Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA. 123 male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 CTGAGGGATATTCGTTATAAT 0.373000 88 20 0 0 1 0 0 CCDC160 347475 broad.mit.edu 37 X 133379570 133379570 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:133379570A>G uc011mvj.2 + 1 1061 c.740A>G c.(739-741)aAg>aGg p.K247R NM_001101357 NP_001094827 A6NGH7 CC160_HUMAN Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA. 247 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 GCTGTTAGGAAGTTAAAGCAT 0.378000 15 5 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55359008 55359008 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:55359008C>T uc002ehy.3 + 0 538 c.5C>T c.(4-6)tCc>tTc p.S2F IRX6_uc002ehx.3_Missense_Mutation_p.S2F|IRX6_uc010ccb.1_5'Flank NM_024335 NP_077311 P78412 IRX6_HUMAN Homo sapiens iroquois homeobox 6 (IRX6), mRNA. 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GCCACCATGTCCTTCCCACAC 0.627000 38 7 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39880099 39880099 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:39880099A>C uc003opb.3 - 6 1028 c.890T>G c.(889-891)tTc>tGc p.F297C MOCS1_uc003opa.3_Missense_Mutation_p.F297C|MOCS1_uc003opd.3_Missense_Mutation_p.F297C|MOCS1_uc003ope.3_Missense_Mutation_p.F210C NM_005943 NP_005934 Q9NZB8 MOCS1_HUMAN Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA. 297 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGGCCTTGGAAGCCAGGGAT 0.547000 91 46 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398436 47398436 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:47398436G>A uc001cqp.4 - 10 1412 c.1361C>T c.(1360-1362)tCa>tTa p.S454L CYP4A11_uc001cqq.2_Missense_Mutation_p.S454L NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 454 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GTCTCACCTTGATCCTCCTGA 0.512000 310 54 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177250615 177250615 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:177250615C>T uc001glf.3 + 7 2615 c.2303C>T c.(2302-2304)tCt>tTt p.S768F FAM5B_uc001glg.3_Missense_Mutation_p.S663F NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 768 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTTTCAATTCTAAGCTGCCA 0.547000 89 7 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7805245 7805245 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:7805245G>A uc001qtb.3 - 2 265 c.231C>T c.(229-231)caC>caT p.H77H APOBEC1_uc001qtc.3_Silent_p.H32H NM_001644 NP_001635 P41238 ABEC1_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA. 77 DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm RNA binding|cytidine deaminase activity|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TCATGGATGGGTGAAAATCTC 0.488000 33 9 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31545314 31545314 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:31545314G>A uc001rkh.1 - 20 3609 c.3458C>T c.(3457-3459)aCc>aTc p.T1153I DENND5B_uc001rki.1_Missense_Mutation_p.T1118I NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 1118 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CAGCAACACGGTGAGGCTTCC 0.468000 50 7 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10394406 10394406 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:10394406C>T uc002mnq.2 + 2 900 c.581C>T c.(580-582)cCc>cTc p.P194L ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA. 194 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GACCTGCGGCCCCAAGGGCTG 0.622000 23 3 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950360 27950360 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:27950360G>A uc003zqv.1 - 6 960 c.310C>T c.(310-312)Ctc>Ttc p.L104F LINGO2_uc010mjf.1_Missense_Mutation_p.L104F|LINGO2_uc003zqu.1_Missense_Mutation_p.L104F|LINGO2_uc022bfc.1_Missense_Mutation_p.L104F NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 104 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGTTAAAGAGATTGTTGAAT 0.458000 64 60 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564875 46564875 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:46564875G>A uc001ncv.2 - 6 1006 c.692C>T c.(691-693)tCa>tTa p.S231L AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.S231L|AMBRA1_uc001ncu.1_Missense_Mutation_p.S231L|AMBRA1_uc010rgu.1_Missense_Mutation_p.S231L|AMBRA1_uc001ncw.2_Missense_Mutation_p.S231L|AMBRA1_uc001ncx.2_Missense_Mutation_p.S231L NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 231 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AACTGGCTGTGATTGCAGGAG 0.572000 38 25 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133950552 133950552 + Silent SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:133950552C>A uc001lkx.4 + 5 1146 c.1146C>A c.(1144-1146)ccC>ccA p.P382P NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TACGGAGACCCAGTTCCTTGA 0.498000 27 11 6.40141e-05 6.46138e-05 1 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259437 24259437 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:24259437C>T uc003xdz.2 + 11 1372 c.1152C>T c.(1150-1152)ttC>ttT p.F384F ADAMDEC1_uc010lub.2_Silent_p.F305F|ADAMDEC1_uc011lab.1_Silent_p.F305F NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 384 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GTTCAAAATTCCCAAAGGATT 0.363000 49 5 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224719 158224719 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:158224719C>T uc003ipm.4 + 2 704 c.245C>T c.(244-246)tCg>tTg p.S82L GRIA2_uc011cit.2_Missense_Mutation_p.S35L|GRIA2_uc021xtr.1_Missense_Mutation_p.S82L|GRIA2_uc003ipl.4_Missense_Mutation_p.S82L|GRIA2_uc003ipk.4_Missense_Mutation_p.S35L|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. 82 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.S82L(2)|p.S82S(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) TCCCAGTTTTCGAGAGGAGTC 0.368000 59 17 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56092216 56092216 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:56092216G>A uc001shh.3 - 6 1375 c.1155C>T c.(1153-1155)ttC>ttT p.F385F ITGA7_uc001shg.3_Silent_p.F381F|ITGA7_uc010sps.2_Silent_p.F288F|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.F268F NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 425 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGCTGATCCCGAACATGGAGT 0.622000 25 15 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904307 74904307 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:74904307C>T uc001owb.3 + 8 1515 c.1120C>T c.(1120-1122)Ctg>Ttg p.L374L SLCO2B1_uc010rrq.2_Silent_p.L119L|SLCO2B1_uc010rrr.2_Silent_p.L230L|SLCO2B1_uc010rrs.2_Silent_p.L258L|SLCO2B1_uc001owc.3_Silent_p.L147L|SLCO2B1_uc001owd.3_Silent_p.L352L NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 374 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCCCATCTTCCTGCTGGTGGT 0.627000 60 33 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328097 80328097 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:80328097G>A uc003hlu.3 - 0 1276 c.1258C>T c.(1258-1260)Cgt>Tgt p.R420C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 420 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.R420C(2) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TGCAAATGACGAAGTGGAATT 0.393000 82 40 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100200661 100200661 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:100200661G>A uc003hur.2 - 7 1139 c.1025C>T c.(1024-1026)tCa>tTa p.S342L LOC100507053_uc003hum.2_Intron NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 342 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TGCATCCAATGAAAACTTCTT 0.333000 100 17 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455650 5455650 + Nonsense_Mutation SNP A T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:5455650A>T uc002mca.4 + 0 225 c.148A>T c.(148-150)Aag>Tag p.K50* NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 50 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GAGATGCCCAAAGGCCTCATG 0.692000 34 18 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474245 73474245 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:73474245G>A uc003tzw.3 + 22 1553 c.1462G>A c.(1462-1464)Gga>Aga p.G488R ELN_uc003tzn.3_Missense_Mutation_p.G482R|ELN_uc003tzy.3_Missense_Mutation_p.G458R|ELN_uc003tzz.3_Missense_Mutation_p.G401R|ELN_uc003tzo.3_Missense_Mutation_p.G449R|ELN_uc003tzp.3_Missense_Mutation_p.G393R|ELN_uc003tzq.3_Missense_Mutation_p.G346R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G463R|ELN_uc003tzt.3_Missense_Mutation_p.G487R|ELN_uc003tzu.3_Missense_Mutation_p.G468R|ELN_uc003tzv.3_Missense_Mutation_p.G453R|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Missense_Mutation_p.G472R|ELN_uc011kff.2_Missense_Mutation_p.G482R NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 511 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CGTGGCTCCTGGAGTTGGCGT 0.572000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 208 79 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258430 9258430 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:9258430C>T uc002knv.3 + 8 5429 c.5165C>T c.(5164-5166)gCc>gTc p.A1722V ANKRD12_uc002knw.3_Missense_Mutation_p.A1699V|ANKRD12_uc002knx.3_Missense_Mutation_p.A1699V|ANKRD12_uc010dkx.1_Missense_Mutation_p.A1429V NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1722 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAGAAAATGCCGAAGATGAT 0.343000 18 9 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245961 166245961 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:166245961G>A uc002udc.3 + 26 5935 c.5645G>A c.(5644-5646)cGa>cAa p.R1882Q SCN2A_uc002udd.3_Missense_Mutation_p.R1882Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1882Q|SCN2A_uc021vry.1_Missense_Mutation_p.R382Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1882 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATGGAAGAGCGATTCATGGCA 0.468000 62 8 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427903 135427903 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:135427903G>A uc004ezu.1 + 5 2329 c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K GPR112_uc010nsb.1_Missense_Mutation_p.E475K|GPR112_uc010nsc.1_Missense_Mutation_p.E447K NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 680 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGTGCCTAATGAAAATTTTAC 0.433000 98 18 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2595325 2595325 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:2595325C>T uc009zdu.1 + 5 1126 c.813C>T c.(811-813)atC>atT p.I271I CACNA1C_uc001qkc.2_Silent_p.I271I|CACNA1C_uc001qjz.2_Silent_p.I271I|CACNA1C_uc001qkd.2_Silent_p.I271I|CACNA1C_uc001qke.2_Silent_p.I271I|CACNA1C_uc001qkf.2_Silent_p.I271I|CACNA1C_uc009zdw.1_Silent_p.I271I|CACNA1C_uc001qkg.2_Silent_p.I271I|CACNA1C_uc001qkh.2_Silent_p.I271I|CACNA1C_uc001qkl.2_Silent_p.I271I|CACNA1C_uc001qkj.2_Silent_p.I271I|CACNA1C_uc001qkk.2_Silent_p.I271I|CACNA1C_uc001qkn.2_Silent_p.I271I|CACNA1C_uc001qkm.2_Silent_p.I271I|CACNA1C_uc001qko.2_Silent_p.I271I|CACNA1C_uc001qkp.2_Silent_p.I271I|CACNA1C_uc001qkq.2_Silent_p.I271I|CACNA1C_uc001qku.2_Silent_p.I271I|CACNA1C_uc001qkr.2_Silent_p.I271I|CACNA1C_uc001qks.2_Silent_p.I271I|CACNA1C_uc001qkt.2_Silent_p.I271I|CACNA1C_uc009zdv.1_Silent_p.I271I|CACNA1C_uc001qkb.2_Silent_p.I271I|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.I7I NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 271 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) TGCTGCACATCGCCCTGCTTG 0.562000 18 11 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651317 38651317 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38651317A>G uc021wvo.1 - 5 894 c.842T>C c.(841-843)gTg>gCg p.V281A SCN5A_uc021wvk.1_Missense_Mutation_p.V281A|SCN5A_uc021wvl.1_Missense_Mutation_p.V281A|SCN5A_uc021wvm.1_Missense_Mutation_p.V281A|SCN5A_uc021wvn.1_Missense_Mutation_p.V281A|SCN5A_uc021wvp.1_Missense_Mutation_p.V281A|SCN5A_uc021wvq.1_Missense_Mutation_p.V281A|SCN5A_uc021wvr.1_Missense_Mutation_p.V281A|SCN5A_uc021wvs.1_Missense_Mutation_p.V281A|SCN5A_uc021wvt.1_Missense_Mutation_p.V281A|SCN5A_uc021wvu.1_Missense_Mutation_p.V281A|SCN5A_uc021wvv.1_Missense_Mutation_p.V281A|SCN5A_uc021wvj.1_Missense_Mutation_p.V147A|SCN5A_uc021wvi.1_Missense_Mutation_p.V147A|SCN5A_uc010hhl.1_Missense_Mutation_p.V104A NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 281 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GAAGTTGCGCACGCACTTGTG 0.587000 79 21 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14862651 14862651 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:14862651G>A uc004cwg.1 - 8 2407 c.2139C>T c.(2137-2139)ttC>ttT p.F713F FANCB_uc004cwh.1_Silent_p.F713F NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 713 DNA repair nucleoplasm p.F713F(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) AAATCCCTTCGAATGGTGTTC 0.368000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 76 35 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91709152 91709152 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:91709152A>G uc003ulg.3 + 30 7930 c.7705A>G c.(7705-7707)Aaa>Gaa p.K2569E AKAP9_uc003ulf.3_Missense_Mutation_p.K2561E|AKAP9_uc003uli.3_Missense_Mutation_p.K2192E|AKAP9_uc003ulj.3_Missense_Mutation_p.K339E NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2581 Glu-rich. 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) GGAATATGCAAAATTCTGTCA 0.343000 T BRAF papillary thyroid 44 24 0 0 1 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61976141 61976141 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:61976141C>T uc001nta.2 + 1 1 c.-63_splice c.e1-1 NM_002407 NP_002398 O75556 SG2A1_HUMAN Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA. extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 GGGTACTCACCTCCACAGCAA 0.582000 79 34 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98703285 98703285 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:98703285C>T uc003yhz.3 + 5 1245 c.917C>T c.(916-918)tCc>tTc p.S306F MTDH_uc010mbf.3_Non-coding_Transcript NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN Homo sapiens metadherin (MTDH), mRNA. 306 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity p.S306S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAGTGGAACTCCGTTTCACCT 0.468000 74 15 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130318625 130318625 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:130318625C>T uc010htl.3 + 18 4655 c.4624C>T c.(4624-4626)Ccc>Tcc p.P1542S COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1542 Triple-helical region. 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 GCCAGGCCCCCCCGGGACACC 0.493000 39 14 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2827652 2827652 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:2827652C>T uc002lwm.2 + 2 362 c.164C>T c.(163-165)tCc>tTc p.S55F ZNF554_uc002lwl.2_Missense_Mutation_p.S4F NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) ATGGACTTCTCCCAGGAGGAG 0.537000 69 17 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729807 41729807 + Missense_Mutation SNP C G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:41729807C>G uc003thq.3 - 1 957 c.722G>C c.(721-723)cGg>cCg p.R241P INHBA_uc003thr.3_Missense_Mutation_p.R241P NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 241 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.R241W(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACAGGCAATCCGAACGTCCAG 0.572000 TSP Lung(11;0.080) 59 4 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958619 26958620 + Silent DNP GG AA AA rs76379991 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:26958619_26958620GG>AA uc002hbu.3 - 22 4279_4280 c.4176_4177CC>TT c.(4174-4179)cacctg>caTTtg p.1392_1393HL>HL NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 1392 extracellular region p.V1391I(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GAGGCCATCAGGTGAACGGTCA 0.530000 35 18 0 0 1 0 0 CTSL1 1514 broad.mit.edu 37 9 90343253 90343253 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:90343253A>C uc004api.3 + 3 543 c.338A>C c.(337-339)gAg>gCg p.E113A CTSL1_uc004aph.3_Missense_Mutation_p.E113A|CTSL1_uc010mqh.3_Intron|CTSL1_uc004apl.3_Missense_Mutation_p.E113A|CTSL1_uc004apk.3_Missense_Mutation_p.E113A NM_145918 NP_666023 P07711 CATL1_HUMAN Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA. 113 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1) 19 Glucagon recombinant(DB00040) CTGTTTTATGAGGCCCCCAGA 0.488000 52 26 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839262 100839262 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100839262C>T uc003uyc.3 - 6 1158 c.991G>A c.(991-993)Ggg>Agg p.G331R MOGAT3_uc010lhr.3_Nonsense_Mutation_p.W263* NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 331 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCGGGGACCCCACAGCTTTCC 0.642000 72 24 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61597295 61597295 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:61597295C>T uc010xev.2 + 5 597 c.507C>T c.(505-507)ctC>ctT p.L169L SERPINB2_uc010xew.2_Silent_p.L169L NM_005024 NP_005015 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA. 184 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCCAGAATCTCCTGCCTGATG 0.383000 31 26 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142161840 142161840 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:142161840C>T uc003yvy.3 + 6 1016 c.738C>T c.(736-738)ttC>ttT p.F246F DENND3_uc010mep.3_Silent_p.F259F NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 246 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGCACCCCTTCGTGCCCATCC 0.582000 132 41 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549503 158549503 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158549503C>T uc010pin.2 - 0 187 c.187G>A c.(187-189)Ggt>Agt p.G63S NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CAAGTTAGACCCATGATGATC 0.473000 79 69 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882249 68882249 + Silent SNP C T T rs146411193 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:68882249C>T uc010yqj.2 + 1 883 c.723C>T c.(721-723)ttC>ttT p.F241F PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 241 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCATAGAATTCGTGGGCCCCG 0.547000 109 7 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47432962 47432962 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:47432962G>A uc002leb.2 - 18 2529 c.2241C>T c.(2239-2241)ttC>ttT p.F747F NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 747 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.I746N(1) 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) CTGCTCGAAAGAAGATCTTGG 0.557000 38 10 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759222 121759222 + Missense_Mutation SNP A G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:121759222A>G uc003ksw.1 + 3 996 c.790A>G c.(790-792)Agt>Ggt p.S264G SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S264G|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S311G|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S264G NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 264 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) CAAGACATTTAGTGATCCTCA 0.473000 54 4 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220686 55220686 + RNA SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55220686G>A uc002qgs.1 + 0 c.1086G>A LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. AGGACACTCAGGGGTCCCAGC 0.622000 27 10 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150398676 150398676 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:150398676G>A uc003eyg.3 - 7 981 c.924C>T c.(922-924)atC>atT p.I308I FAM194A_uc003eyh.3_Silent_p.I162I NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 308 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCTCCTCATAGATATAGTCAA 0.428000 50 25 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42248167 42248167 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:42248167G>A uc002ifl.1 + 0 94 c.10G>A c.(10-12)Gag>Aag p.E4K ASB16_uc002ifm.1_Non-coding_Transcript NM_080863 NP_543139 Q96NS5 ASB16_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA. 4 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CATGGCAAGAGAGACCTTCCC 0.682000 80 39 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26405846 26405846 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:26405846C>T uc003nhv.3 + 1 423 c.55C>T c.(55-57)Ctt>Ttt p.L19F BTN3A1_uc011dkj.2_Missense_Mutation_p.L19F|BTN3A1_uc010jqj.3_Missense_Mutation_p.L19F|BTN3A1_uc011dkk.2_Missense_Mutation_p.L19F NM_007048 NP_008979 O00481 BT3A1_HUMAN Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA. 19 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TGTCTGCCTCCTTTTGCTTCA 0.468000 94 23 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154145317 154145317 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:154145317C>T uc003faa.3 - 1 1262 c.1162G>A c.(1162-1164)Gat>Aat p.D388N NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 388 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTTCCCATCGGACGCCACT 0.483000 47 18 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773732 145773732 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:145773732G>A uc003zds.1 - 5 1293 c.738C>T c.(736-738)tcC>tcT p.S246S ARHGAP39_uc011llk.1_Silent_p.S246S|ARHGAP39_uc003zdt.1_Silent_p.S246S NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 246 Pro-rich. 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 GCTGGCTGCCGGAGGGTCTGC 0.687000 15 24 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17039616 17039616 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:17039616C>T uc002gqv.2 + 5 677 c.588C>T c.(586-588)gtC>gtT p.V196V MPRIP_uc002gqu.2_Silent_p.V196V|MPRIP_uc002gqw.2_5'UTR NM_015134 NP_055949 Q6WCQ1 MPRIP_HUMAN Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA. 196 Interaction with F-actin (By similarity).|Ser-rich. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CTGAGAAAGTCCCCACCACCA 0.612000 21 10 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558206 159558206 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:159558206G>A uc001ftv.3 + 1 476 c.380G>A c.(379-381)tGg>tAg p.W127* NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 127 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GCTGAATTTTGGATCAATGGG 0.478000 99 21 0 0 1 0 0 SHH 6469 broad.mit.edu 37 7 155598993 155598993 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:155598993C>T uc003wmk.1 - 1 710 c.559G>A c.(559-561)Gca>Aca p.A187T SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.A100T|SHH_uc003wmj.1_Missense_Mutation_p.A100T NM_000193 NP_000184 Q15465 SHH_HUMAN Homo sapiens sonic hedgehog (SHH), mRNA. 187 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTTACCTGCTTTCACCGAG 0.627000 100 20 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80915356 80915356 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:80915356G>A uc002kgg.1 - 8 754 c.740C>T c.(739-741)aCc>aTc p.T247I B3GNTL1_uc002kgf.1_Missense_Mutation_p.T136I|B3GNTL1_uc002kge.1_Non-coding_Transcript NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 247 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GACGCGGTGGGTCCAGATGGT 0.647000 8 7 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116264184 116264184 + Splice_Site SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:116264184A>C uc003pwi.1 - 7 1753 c.1306_splice c.e7+1 p.G436_splice NM_002031 NP_002022 P42685 FRK_HUMAN Homo sapiens fyn-related kinase (FRK), mRNA. 436 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATTACTCACCACTGTAAGGCA 0.393000 18 14 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20403822 20403822 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:20403822C>T uc002rdo.1 - 2 678 c.379G>A c.(379-381)Gag>Aag p.E127K SDC1_uc002rdp.1_Missense_Mutation_p.E127K|SDC1_uc010exv.3_Missense_Mutation_p.E127K|SDC1_uc010exw.1_Non-coding_Transcript NM_002997 NP_002988 P18827 SDC1_HUMAN Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA. 127 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) TGTGTGGTCTCCCTGGGTCGG 0.706000 62 26 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060866 44060866 + Silent SNP C T T rs147885393 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:44060866C>T uc002ijr.4 + 5 1018 c.696C>T c.(694-696)tcC>tcT p.S232S MAPT_uc010dau.3_Silent_p.S232S|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.S80S NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 232 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCCAAGACTCCCCTCCCTCCA 0.692000 39 16 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129231 152129231 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152129231C>T uc001ezs.1 - 2 409 c.344G>A c.(343-345)gGa>gAa p.G115E NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 115 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 GCCTGTGTTTCCTGGGAACTT 0.527000 425 109 0 0 1 0 0 LOC100499466 100499466 broad.mit.edu 37 17 66131683 66131683 + RNA SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:66131683G>A uc002jgq.3 + 5 c.10806G>A Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA. CAGCCCCTCCGACCTTCTCAC 0.597000 90 29 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224761 158224761 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:158224761C>T uc003ipm.4 + 2 746 c.287C>T c.(286-288)tCt>tTt p.S96F GRIA2_uc011cit.2_Missense_Mutation_p.S49F|GRIA2_uc021xtr.1_Missense_Mutation_p.S96F|GRIA2_uc003ipl.4_Missense_Mutation_p.S96F|GRIA2_uc003ipk.4_Missense_Mutation_p.S49F|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. 96 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 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) GACAAGAAGTCTGTAAATACC 0.393000 88 54 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17322951 17322951 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:17322951C>T uc010eak.3 + 39 6458 c.6306C>T c.(6304-6306)cgC>cgT p.R2102R MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 2102 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CACCTGCCCGCCGCCCGGACC 0.726000 9 5 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862753 9862753 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:9862753C>T uc010uym.2 - 12 2860 c.2550G>A c.(2548-2550)acG>acA p.T850T GRIN2A_uc002czo.4_Silent_p.T850T|GRIN2A_uc010uyn.2_Silent_p.T693T|GRIN2A_uc002czr.4_Silent_p.T850T NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 850 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 p.T850T(2) 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) AGCACACGCCCGTGAAACAGA 0.577000 88 47 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744754 17744754 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:17744754G>A uc011mix.2 + 6 2866 c.2528G>A c.(2527-2529)aGg>aAg p.R843K NHS_uc004cxx.3_Missense_Mutation_p.R822K|NHS_uc004cxy.3_Missense_Mutation_p.R666K|NHS_uc004cxz.3_Missense_Mutation_p.R645K|NHS_uc004cya.3_Missense_Mutation_p.R545K NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 822 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ATCTCTTTCAGGAAACCAAAG 0.498000 167 27 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331219 17331219 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:17331219G>A uc001baa.2 - 4 635 c.445C>T c.(445-447)Cac>Tac p.H149Y ATP13A2_uc001bac.2_Missense_Mutation_p.H149Y|ATP13A2_uc001bab.2_Missense_Mutation_p.H149Y NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 149 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TCGCTCTTGTGGAGCTGGGCC 0.632000 113 13 0 0 1 0 0 ZWINT 11130 broad.mit.edu 37 10 58119549 58119549 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:58119549C>T uc001jjx.1 - 3 359 c.322G>A c.(322-324)Gag>Aag p.E108K ZWINT_uc001jjy.1_Missense_Mutation_p.E108K|ZWINT_uc001jka.1_Missense_Mutation_p.E108K|ZWINT_uc009xoy.1_Non-coding_Transcript NM_007057 NP_127490 O95229 ZWINT_HUMAN Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA. 108 Interaction with NDC80 and ZW10. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 TTGATGGCCTCTACGTGCTCC 0.537000 61 25 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749165 2749165 + Splice_Site SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:2749165C>T uc003jda.3 - 3 898 c.656_splice c.e3-1 p.G219_splice IRX2_uc003jdb.3_Splice_Site_p.G219_splice NM_001134222 NP_150366 Q9BZI1 IRX2_HUMAN Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA. 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCAGGCTGATCCCTGTGGGGG 0.741000 34 8 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136597576 136597576 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:136597576T>C uc004cep.4 - 2 613 c.479A>G c.(478-480)cAg>cGg p.Q160R SARDH_uc004ceo.3_Missense_Mutation_p.Q160R|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.Q160R NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 160 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity p.R159R(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCAGGCGCTGCCGGTTGGA 0.677000 186 17 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80327860 80327860 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:80327860G>A uc003hlu.3 - 0 1513 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 499 R -> C (in Ref. 2; BAF84930). glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GTGGCATAACGAATTTCACTT 0.478000 96 43 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44575925 44575925 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:44575925G>A uc003tlb.3 - 3 1840 c.1784C>T c.(1783-1785)gCc>gTc p.A595V NPC1L1_uc011kbw.2_Missense_Mutation_p.A595V|NPC1L1_uc003tlc.3_Missense_Mutation_p.A595V|NPC1L1_uc003tld.3_Missense_Mutation_p.A595V NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 595 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTCTAAGAAGGCCTCCTCCCA 0.612000 99 21 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64026056 64026056 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:64026056C>T uc009ypi.3 + 10 1251 c.1124C>T c.(1123-1125)cCc>cTc p.P375L PLCB3_uc009ypg.2_Missense_Mutation_p.P375L|PLCB3_uc009yph.2_Missense_Mutation_p.P308L NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 375 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GAGGAGGAACCCTTCATTACC 0.647000 82 37 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56571847 56571847 + Silent SNP G C C rs142117181 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:56571847G>C uc001skb.3 - 14 1447 c.1341C>G c.(1339-1341)ccC>ccG p.P447P SMARCC2_uc001skd.3_Silent_p.P447P|SMARCC2_uc001ska.3_Silent_p.P447P|SMARCC2_uc001skc.3_Silent_p.P447P|SMARCC2_uc010sqf.2_Silent_p.P336P 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. 447 SWIRM. 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) TGAAGAACTCGGGGAGAGCCC 0.512000 21 7 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69673525 69673525 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:69673525G>A uc004dyi.2 + 7 1531 c.1184G>A c.(1183-1185)gGc>gAc p.G395D DLG3_uc004dyj.2_Missense_Mutation_p.G58D|DLG3_uc011mpn.2_5'Flank NM_021120 NP_066943 Q92796 DLG3_HUMAN Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA. 395 PDZ 3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) GGCTCCACAGGCCTGGGCTTC 0.567000 17 8 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131857859 131857859 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:131857859G>A uc004bxh.3 - 13 1980 c.1698C>T c.(1696-1698)ttC>ttT p.F566F CRAT_uc004bxk.4_Silent_p.F545F NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 566 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CCACGGGCCCGAAGAACATGA 0.622000 20 16 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67399796 67399796 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67399796C>T uc001omp.3 - 6 949 c.861G>A c.(859-861)agG>agA p.R287R NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank NM_005995 NP_005986 O75333 TBX10_HUMAN Homo sapiens T-box 10 (TBX10), mRNA. 287 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TACCTTTCTCCCTGTCTGTGG 0.622000 106 17 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137917887 137917887 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:137917887G>A uc002tva.1 + 4 1381 c.1381G>A c.(1381-1383)Gcc>Acc p.A461T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.A351T NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.P460T(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCCTGGTCAGCCTGGGGCCT 0.512000 61 9 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71276536 71276536 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:71276536C>T uc010ukf.2 + 10 1430 c.1124C>T c.(1123-1125)tCt>tTt p.S375F LRRC49_uc002asu.3_Missense_Mutation_p.S360F|LRRC49_uc002asx.3_Missense_Mutation_p.S326F|LRRC49_uc002asw.3_Missense_Mutation_p.S370F|LRRC49_uc002asy.3_Missense_Mutation_p.S76F|LRRC49_uc002asz.3_Missense_Mutation_p.S342F NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 370 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GATTCTGACTCTCCTCAGGAC 0.413000 60 31 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110322028 110322028 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:110322028G>A uc002tey.3 - 7 1322 c.943C>T c.(943-945)Cat>Tat p.H315Y SEPT10_uc010ywu.1_Missense_Mutation_p.H148Y|SEPT10_uc002tew.3_Missense_Mutation_p.H315Y|SEPT10_uc002tex.3_Missense_Mutation_p.H292Y|SEPT10_uc010ywv.2_Missense_Mutation_p.H181Y|SEPT10_uc002tev.1_Missense_Mutation_p.H122Y|SEPT10_uc010fjo.3_Non-coding_Transcript|SEPT10_uc002tez.1_Missense_Mutation_p.H90Y NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA. 315 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TGCCTGGTATGGGTCTGCTCT 0.468000 65 42 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113169284 113169284 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:113169284G>A uc003eag.4 - 14 2513 c.2222C>T c.(2221-2223)gCt>gTt p.A741V SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.A637V NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA. 741 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTTTCCACGAGCCTCCATACT 0.423000 55 40 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2744117 2744117 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:2744117G>A uc003gfg.2 - 5 1244 c.1157C>T c.(1156-1158)cCc>cTc p.P386L TNIP2_uc003gff.2_Missense_Mutation_p.P279L NM_024309 NP_001154999 Q8NFZ5 TNIP2_HUMAN Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA. 386 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTCTGCAGGGGGTTCTGGCTG 0.647000 15 7 0 0 1 0 0 LOC646813 646813 broad.mit.edu 37 11 50375378 50375378 + RNA SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:50375378T>C uc001nhe.2 + 2 c.269T>C LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. ATGGGAGGACTTAACCAATTG 0.358000 28 17 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46486834 46486834 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:46486834C>T uc003cpq.3 - 11 1692 c.1451G>A c.(1450-1452)aGg>aAg p.R484K LTF_uc003fzr.3_Missense_Mutation_p.R440K|LTF_uc010hjh.3_Missense_Mutation_p.R482K|LTF_uc003cpr.3_Missense_Mutation_p.R471K NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 484 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GCCTGCAGTCCTGTCCACGGC 0.567000 65 25 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114354840 114354840 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:114354840C>T uc001edq.3 - 0 231 c.195G>A c.(193-195)caG>caA p.Q65Q RSBN1_uc001edr.3_Non-coding_Transcript NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA. 65 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCGGCTCCTCCTGCGCCGCCA 0.657000 163 20 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40777365 40777365 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:40777365G>A uc001cfh.1 - 8 552 c.440C>T c.(439-441)cCa>cTa p.P147L COL9A2_uc001cfi.1_5'UTR NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 147 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GGGCCCCGATGGTCCATCTGG 0.612000 86 9 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18574378 18574378 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:18574378G>A uc002wrf.4 + 1 208 c.47G>A c.(46-48)gGa>gAa p.G16E NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA. 16 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 TTTCTAGTTGGAGGAGAGCAG 0.413000 26 3 0 0 1 0 0 GPR89A 653519 broad.mit.edu 37 1 145811903 145811903 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:145811903G>A uc001eot.2 - 3 480 c.306C>T c.(304-306)atC>atT p.I102I GPR89A_uc010ozb.1_Silent_p.I77I|GPR89A_uc010ozc.1_Silent_p.I77I|GPR89A_uc001eos.2_5'UTR|GPR89A_uc010ozd.1_Silent_p.I49I|GPR89A_uc010oze.1_Silent_p.I102I NM_001097612 NP_001091082 B7ZAQ6 GPHRA_HUMAN Homo sapiens G protein-coupled receptor 89A (GPR89A), transcript variant 1, mRNA. 102 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TACGTAGTCGGATATTGCTCA 0.373000 188 35 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69250346 69250346 + Missense_Mutation SNP A C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:69250346A>C uc001sup.3 - 8 1264 c.1203T>G c.(1201-1203)gaT>gaG p.D401E CPM_uc001sur.3_Missense_Mutation_p.D401E|CPM_uc001suq.3_Missense_Mutation_p.D401E NM_198320 NP_938079 P14384 CBPM_HUMAN Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA. 401 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CTGGGATAGAATCCAATTGCC 0.398000 80 51 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16703539 16703539 + RNA SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:16703539G>A uc010cpj.1 + 18 c.4650G>A USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript A2RUR9 C144A_HUMAN Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA. AGGACCATGAGGTAGCTTTGG 0.547000 77 18 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422069 53422069 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:53422069C>T uc001vhi.3 - 0 707 c.503G>A c.(502-504)gGg>gAg p.G168E PCDH8_uc001vhj.3_Missense_Mutation_p.G168E NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 168 Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGTCTGCAGCCCGTTGGCGCC 0.716000 9 11 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7689558 7689558 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7689558C>T uc002giu.1 + 38 6260 c.6246C>T c.(6244-6246)atC>atT p.I2082I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2082 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACCATGATCGTGGGCTGCA 0.572000 50 19 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150902515 150902515 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150902515C>T uc001evu.2 + 2 523 c.333C>T c.(331-333)agC>agT p.S111S SETDB1_uc001evw.4_Silent_p.S111S|SETDB1_uc009wmf.2_Silent_p.S111S|SETDB1_uc001evv.2_Silent_p.S111S|SETDB1_uc009wmg.2_Silent_p.S111S NM_001145415 NP_001138887 Q15047 SETB1_HUMAN Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA. 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|chromosome|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGGACAGTAGCTCTGAGGACG 0.438000 80 67 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57713204 57713204 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:57713204C>T uc002emh.3 + 4 711 c.608C>T c.(607-609)tCt>tTt p.S203F GPR97_uc010vhv.2_Missense_Mutation_p.S83F|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 203 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ATCGTCTTCTCTCACCAGCGA 0.637000 81 16 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394623 29394623 + Missense_Mutation SNP C A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:29394623C>A uc003nmg.3 - 0 887 c.796G>T c.(796-798)Gtc>Ttc p.V266F NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 TGGGAATGGACAGCAGAGGGT 0.517000 101 17 1.67942e-08 1.7132e-08 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10467416 10467416 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:10467416C>T uc003wtc.3 - 3 4421 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1398 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) TCTGGAAGTCCTTCCTCTTTG 0.557000 429 161 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28224135 28224135 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:28224135C>T uc009xky.3 - 15 2397 c.2299G>A c.(2299-2301)Gat>Aat p.D767N ARMC4_uc010qds.2_Missense_Mutation_p.D292N|ARMC4_uc010qdt.2_Missense_Mutation_p.D459N|ARMC4_uc001itz.3_Missense_Mutation_p.D767N NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 767 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCAGGCTGATCTGTTAGAAGT 0.428000 60 20 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047822 9047822 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9047822G>A uc002mkp.3 - 4 34013 c.33809C>T c.(33808-33810)cCt>cTt p.P11270L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11272 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 ACTCTCTGCAGGATGGGTGAC 0.488000 27 3 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135447804 135447804 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:135447804G>A uc004cbn.3 + 6 918 c.870G>A c.(868-870)acG>acA p.T290T C9orf171_uc004cbo.3_Silent_p.T254T NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA. 290 p.T290M(1) large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CGTTCCCCACGGAGGCCGATC 0.627000 75 12 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67159653 67159653 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67159653C>T uc001okr.3 + 1 149 c.56C>T c.(55-57)tCc>tTc p.S19F RAD9A_uc021qmg.1_5'Flank NM_004584 NP_004575 Q99638 RAD9A_HUMAN Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA. 19 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding p.S19F(2) lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCCGTCCACTCCCTGTCCCGC 0.716000 Other conserved DNA damage response genes 15 6 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53761859 53761859 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:53761859C>T uc002qbi.2 + 0 315 c.231C>T c.(229-231)gtC>gtT p.V77V NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 77 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) actctcttgtctctgcacacg 0.473000 14 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106725136 106725136 + RNA SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:106725136T>C uc021ser.1 - 928 c.22342A>G Parts of antibodies, mostly variable regions. GCCGCTGATTTCCCCCCCATC 0.582000 101 8 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308294 72308294 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:72308294G>A uc002jkf.3 + 11 1757 c.1647G>A c.(1645-1647)gaG>gaA p.E549E DNAI2_uc002jkg.3_Silent_p.E537E|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 549 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCAAGGCCGAGGAGGAGTTCT 0.607000 Kartagener syndrome 25 19 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889240 18889240 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:18889240C>T uc021qvx.1 - 2 241 c.50G>A c.(49-51)gGa>gAa p.G17E PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 17 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.G16S(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTTAATTTTTCCACCTCTGAA 0.308000 24 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140215240 140215240 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140215240G>A uc003lhq.2 + 0 1272 c.1272G>A c.(1270-1272)gtG>gtA p.V424V 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_uc011dac.2_Silent_p.V424V NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 438 Cadherin 4. 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) ATGAGCTGGTGGTTACCGCGC 0.632000 111 76 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707690 96707690 + Nonsense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:96707690G>A uc001kka.4 + 3 661 c.636G>A c.(634-636)tgG>tgA p.W212* CYP2C9_uc009xut.3_Nonsense_Mutation_p.W212* NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 212 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCAGCCCCTGGATCCAGGTAA 0.348000 46 27 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450321 158450321 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158450321G>A uc010pik.2 + 0 654 c.654G>A c.(652-654)gtG>gtA p.V218V AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V218V(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) ACGAATTTGTGATATTCATTT 0.413000 221 63 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994197 140994197 + Missense_Mutation SNP C G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140994197C>G uc004fbt.3 + 3 1331 c.1007C>G c.(1006-1008)tCt>tGt p.S336C MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 336 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCCAGTCTCTTCTCCAG 0.463000 HNSCC(15;0.026) 465 23 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019948 20019948 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20019948C>T uc001vwc.3 - 0 325 c.273G>A c.(271-273)atG>atA p.M91I POTEM_uc001vwb.3_Non-coding_Transcript NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA. 91 endometrium(4)|kidney(1)|lung(4) 9 TGAGTGTCTTCATAGCAGAGT 0.632000 511 39 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350131 65350131 + Missense_Mutation SNP T C C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:65350131T>C uc001oeo.4 + 8 2253 c.1988T>C c.(1987-1989)gTt>gCt p.V663A NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 663 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGTTCAGGAGTTTTGCAGACA 0.512000 55 5 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443860 150443860 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150443860C>T uc009wlr.3 + 10 2637 c.2436C>T c.(2434-2436)tcC>tcT p.S812S RPRD2_uc010pcc.1_Silent_p.S786S|RPRD2_uc001eup.4_Silent_p.S786S NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 812 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GACCATCTTCCCTGATGGACT 0.478000 44 14 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73745120 73745120 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:73745120G>A uc002jpg.3 + 26 3497 c.3310G>A c.(3310-3312)Gac>Aac p.D1104N ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1104 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCATCAGGGACCCAGGTAG 0.617000 21 12 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990929 47990929 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:47990929C>T uc002xur.1 - 1 1334 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R KCNB1_uc002xus.1_Missense_Mutation_p.G390R NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 390 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACAATTTTCCCCAGGAGAGTC 0.507000 78 7 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113063098 113063099 + Missense_Mutation DNP CC TT TT rs145437043 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:113063098_113063099CC>TT uc001ecb.3 + 4 1658_1659 c.1143_1144CC>TT c.(1141-1146)gccccc>gcTTcc p.P382S WNT2B_uc001eca.3_Missense_Mutation_p.P363S|WNT2B_uc009wgg.3_Missense_Mutation_p.P290S NM_024494 NP_078613 Q93097 WNT2B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA. 382 Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGCAAAGCCCCCAAGAAGGC 0.505000 20 8 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750080 233750080 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:233750080G>A uc010pxo.1 + 0 331 c.163G>A c.(163-165)Gag>Aag p.E55K NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 55 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) GCTGCGCCAGGAGCTGCGCAA 0.632000 15 19 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52585569 52585569 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:52585569C>T uc001rzx.3 - 0 216 c.118G>A c.(118-120)Ggc>Agc p.G40S KRT80_uc001rzy.3_Missense_Mutation_p.G40S NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 40 Head. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GAGCTGAAGCCCGGCCCGGGG 0.677000 15 13 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74324368 74324368 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:74324368C>T uc011lsa.1 - 16 3332 c.2792G>A c.(2791-2793)gGa>gAa p.G931E TMEM2_uc010mos.2_Missense_Mutation_p.G868E|TMEM2_uc011lsb.1_Non-coding_Transcript NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 931 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACCAGGCTTTCCAAAAAAGAC 0.448000 35 25 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159392 118159392 + Splice_Site SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:118159392G>A uc003yoh.3 + 2 501 c.271_splice c.e2+1 p.G91_splice SLC30A8_uc010mcz.3_Splice_Site_p.G42_splice|SLC30A8_uc003yog.3_Splice_Site_p.G42_splice|SLC30A8_uc011lia.2_Splice_Site_p.G42_splice|SLC30A8_uc022bab.1_Splice_Site_p.G42_splice NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 91 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGAGGTCGTGGGTGAGTCTTT 0.398000 44 53 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135469928 135469928 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:135469928G>A uc004ezu.1 + 15 8097 c.7806G>A c.(7804-7806)ggG>ggA p.G2602G GPR112_uc010nsb.1_Silent_p.G2397G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2602 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTGGGAGGGATTTTGGCTT 0.413000 134 77 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626486 44626486 + Silent SNP C G G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:44626486C>G uc002ikn.1 + 8 3984 c.3981C>G c.(3979-3981)gtC>gtG p.V1327V ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Silent_p.V288V|LRRC37A2_uc010dax.2_Silent_p.V257V NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA. 1327 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GTCCAAAGGTCAGAAAGAAAA 0.448000 402 76 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24466921 24466921 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:24466921C>T uc003ned.1 - 9 919 c.808G>A c.(808-810)Gag>Aag p.E270K GPLD1_uc010jpr.1_Missense_Mutation_p.E107K|GPLD1_uc010jps.1_Missense_Mutation_p.E270K NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 270 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GTCCCATTCTCCAACATGAAG 0.403000 28 16 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82508686 82508686 + Missense_Mutation SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:82508686C>T uc003uhx.2 - 9 13910 c.13621G>A c.(13621-13623)Gga>Aga p.G4541R PCLO_uc003uhv.2_Missense_Mutation_p.G4541R|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCCGCACTTCCCCCAGGAAGA 0.358000 27 9 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166405617 166405617 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:166405617C>T uc003irg.4 + 4 1111 c.834C>T c.(832-834)ttC>ttT p.F278F NM_001873 NP_001864 P16870 CBPE_HUMAN Homo sapiens carboxypeptidase E (CPE), mRNA. 278 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGCCATTTTCCAAAGCTTGG 0.493000 271 78 0 0 1 0 0 RHOH 399 broad.mit.edu 37 4 40245390 40245390 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:40245390C>T uc003guz.2 + 2 1108 c.384C>T c.(382-384)gcC>gcT p.A128A RHOH_uc021xnp.1_Silent_p.A128A NM_004310 NP_004301 Q15669 RHOH_HUMAN Homo sapiens ras homolog gene family, member H (RHOH), mRNA. 128 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 CCCACAGGGCCTCCTGCGTCA 0.592000 47 20 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142221765 142221765 + Missense_Mutation SNP G A A rs151336979 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:142221765G>A uc003ywd.1 - 7 2481 c.2173C>T c.(2173-2175)Cgt>Tgt p.R725C SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Missense_Mutation_p.S725L NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCAATGTGACGAGATCTGACA 0.363000 66 9 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334194 77334194 + Silent SNP G A A rs148705153 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:77334194G>A uc002ffc.4 - 16 3059 c.2640C>T c.(2638-2640)atC>atT p.I880I ADAMTS18_uc010chc.1_Silent_p.I468I|ADAMTS18_uc002ffe.1_Silent_p.I576I NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 880 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTGACTGCACGATACTCCAGG 0.478000 44 8 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681359 125681359 + Silent SNP C T T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:125681359C>T uc004bnk.3 - 1 929 c.855G>A c.(853-855)ctG>ctA p.L285L ZBTB26_uc004bnj.3_Silent_p.L285L|ZBTB26_uc022bnc.1_Silent_p.L285L NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA. 285 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 CGTAGTTCTCCAGGTGACGAA 0.473000 120 39 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334325 35334325 + Missense_Mutation SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:35334325G>A uc001byc.3 - 6 2366 c.2366C>T c.(2365-2367)tCc>tTc p.S789F NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 789 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGGGCAGGGGGATGCGCGGCC 0.721000 24 28 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278461 27278461 + Silent SNP G A A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:27278461G>A uc001bni.2 - 1 504 c.411C>T c.(409-411)agC>agT p.S137S BC016143_uc021ojq.1_Intron NM_152365 NP_689578 Q8NAX2 CA172_HUMAN Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA. 137 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CACGATCAGGGCTGGGGGGCA 0.637000 36 5 0 0 1 0 0 C1orf201 90529 broad.mit.edu 37 1 24706253 24706253 + Frame_Shift_Del DEL A - - TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:24706253delA uc001bjc.3 - 4 519 c.352delT c.(352-354)tcgfs p.S118fs C1orf201_uc001bjb.3_Frame_Shift_Del_p.S26fs|C1orf201_uc001bja.3_Frame_Shift_Del_p.S71fs|C1orf201_uc001bjd.3_Frame_Shift_Del_p.S118fs|C1orf201_uc001bjf.3_5'UTR NM_001199013 NP_001185942 Q5TH74 CA201_HUMAN Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA. 118 p.N118Y(1) breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 15 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) ATAAAATCCGATGGGATAGTG 0.423 --- 62 --- --- 40 --- FAM9C 171484 broad.mit.edu 37 X 13061230 13061253 + Splice_Site DEL GGACTTAAACACTTTACCCCGTGT - - TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:13061230_13061253delGGACTTAAACACTTTACCCCGTGT uc004cvh.2 - 3 509 c.182_splice c.e3+1 p.G61_splice FAM9C_uc004cvg.3_Splice_Site_p.G61_splice NM_174901 NP_777561 Q8IZT9 FAM9C_HUMAN Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA. 61 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CAGGCAAAAGGGACTTAAACACTTTACCCCGTGTGTTCATCTGT 0.411 --- 173 --- --- 11 --- HUWE1 10075 broad.mit.edu 37 X 53576039 53576040 + Frame_Shift_Ins INS - ACGC ACGC TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:53576039_53576040insACGC uc004dsp.3 - 66 10317_10318 c.9915_9916insGCGT c.(9913-9918)cgttcafs p.R3305fs HUWE1_uc004dsn.3_Frame_Shift_Ins_p.R2113fs NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3305 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 CGCCCCCCTGAACGCTGGATCT 0.525 --- 78 --- --- 18 ---