Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TENM1 10178 broad.mit.edu 37 X 123870929 123870929 + Missense_Mutation SNP C C A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chrX:123870929C>A ENST00000422452.2 - 4 717 c.654G>T c.(652-654)agG>agT p.R218S TENM1_ENST00000371130.3_Missense_Mutation_p.R218S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCATTGATCTCCTCTGAAGAG 0.617000 57 12 2.12129e-23 2.45126e-23 1 1 0 MME 4311 broad.mit.edu 37 3 154832796 154832796 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr3:154832796C>G ENST00000460393.1 + 4 330 c.210C>G c.(208-210)atC>atG p.I70M MME_ENST00000493237.1_Missense_Mutation_p.I70M|MME_ENST00000492661.1_Missense_Mutation_p.I70M|MME_ENST00000477669.1_3'UTR|MME_ENST00000462745.1_Missense_Mutation_p.I70M|MME_ENST00000360490.2_Missense_Mutation_p.I70M NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 70 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTCGACTGATCCAAAACATGG 0.433000 41 63 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162463806 162463806 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr4:162463806C>G ENST00000306100.5 - 9 1491 c.1055G>C c.(1054-1056)aGa>aCa p.R352T FSTL5_ENST00000536695.1_Missense_Mutation_p.R351T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R351T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.R351T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 352 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCCAGGCTCTCTAGCCTGACT 0.423000 35 45 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365031 13365031 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:13365031G>A ENST00000379287.3 - 2 1781 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S GFOD1_ENST00000379284.1_Missense_Mutation_p.P270S NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 373 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) AGGTAGGCGGGGCTCAGCTCC 0.607000 14 24 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 6 76 0 0 1 0 0 GNA12 2768 broad.mit.edu 37 7 2802277 2802277 + Silent SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr7:2802277G>C ENST00000407653.1 - 1 497 c.246C>G c.(244-246)ctC>ctG p.L82L GNA12_ENST00000275364.3_Intron|GNA12_ENST00000407904.3_Intron|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000396960.3_Silent_p.L10L NM_001282440.1 NP_001269369.1 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 154 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) ATGAAGCACAGAGCGGCAGGA 0.507000 5 12 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1099443 1099443 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr11:1099443C>T ENST00000441003.2 + 39 7311 c.7284C>T c.(7282-7284)gtC>gtT p.V2428V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4790 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACAACACAGTCCTGGTGGAAG 0.622000 5 4 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 981368 981368 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:981368C>T ENST00000379370.2 + 16 2755 c.2705C>T c.(2704-2706)gCg>gTg p.A902V NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 902 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.A902V(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCGACCTGTGCGGAGATGCGC 0.667000 3 49 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98961227 98961227 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr7:98961227G>A ENST00000432884.2 + 11 1365 c.904G>A c.(904-906)Gat>Aat p.D302N ARPC1A_ENST00000262942.5_Missense_Mutation_p.D349N Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 349 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) TACTGGCATCGATGGAGCCAT 0.338000 3 44 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944516 32944516 + Nonsense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:32944516C>T ENST00000395289.2 + 7 2604 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* BRD2_ENST00000395287.1_Nonsense_Mutation_p.Q335*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.Q215*|BRD2_ENST00000374825.4_Nonsense_Mutation_p.Q335*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.Q335*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.Q288* P25440 BRD2_HUMAN bromodomain containing 2 335 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GCCTGACTCTCAGCAACAACA 0.507000 13 118 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123629521 123629521 + Splice_Site SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr10:123629521C>T ENST00000369043.3 - 8 1061 c.975G>A c.(973-975)gaG>gaA p.E325E ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Splice_Site_p.E210E|ATE1_ENST00000224652.6_Splice_Site_p.E325E|ATE1_ENST00000369040.3_Splice_Site_p.E229E|ATE1_ENST00000535655.1_Splice_Site_p.E26E|ATE1_ENST00000540606.1_Splice_Site_p.E318E NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 325 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TAACTCTTACCTCCAAGGGTG 0.353000 24 31 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8916924 8916924 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr2:8916924G>C ENST00000256707.3 - 21 2983 c.2802C>G c.(2800-2802)atC>atG p.I934M KIDINS220_ENST00000427284.1_Missense_Mutation_p.I934M|KIDINS220_ENST00000418530.1_Missense_Mutation_p.I892M|KIDINS220_ENST00000319688.5_Missense_Mutation_p.I935M|KIDINS220_ENST00000473731.1_Missense_Mutation_p.I934M NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 934 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTGGGGACTGATGTCACTGA 0.418000 22 24 0 0 1 0 0 MYOZ3 91977 broad.mit.edu 37 5 150056365 150056365 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:150056365C>G ENST00000520112.1 + 2 543 c.433C>G c.(433-435)Ccg>Gcg p.P145A MYOZ3_ENST00000517768.1_Silent_p.L228L|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000297130.4_Silent_p.L228L Q8TDC0 MYOZ3_HUMAN myozenin 3 152 sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAACTCCTCCGTCTCAGAC 0.637000 11 110 0 0 1 0 0 ZNF552 79818 broad.mit.edu 37 19 58320107 58320107 + Silent SNP C C A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:58320107C>A ENST00000391701.1 - 3 694 c.525G>T c.(523-525)ggG>ggT p.G175G ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAAAGTCTTTCCCACTCTCAC 0.493000 45 71 1.68508e-10 1.82551e-10 1 1 0 PLXNA2 5362 broad.mit.edu 37 1 208272270 208272270 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:208272270C>T ENST00000367033.3 - 6 2409 c.1652G>A c.(1651-1653)cGa>cAa p.R551Q NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 551 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGCAGCAAATCGATTAGGTTC 0.552000 6 13 0 0 1 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122463 32122463 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:32122463C>T ENST00000422437.1 + 2 283 c.92C>T c.(91-93)cCc>cTc p.P31L PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.P31L|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.P37L|PPT2_ENST00000375143.2_Missense_Mutation_p.P31L|PPT2_ENST00000375137.2_Missense_Mutation_p.P31L|PPT2_ENST00000324816.6_Missense_Mutation_p.P31L|PPT2_ENST00000445576.2_Missense_Mutation_p.P31L GCCCCCGCGCCCCACCGCGCG 0.672000 5 93 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323649 79323649 + Nonsense_Mutation SNP C C A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr9:79323649C>A ENST00000428286.1 - 8 3664 c.2464G>T c.(2464-2466)Gaa>Taa p.E822* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.E1181* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1181 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGATTTGCTTCCTGATACTCC 0.517000 31 57 3.1745e-13 3.51221e-13 1 1 0 TMEM243 79161 broad.mit.edu 37 7 86827304 86827304 + Missense_Mutation SNP A A G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr7:86827304A>G ENST00000433078.1 - 4 628 c.187T>C c.(187-189)Ttc>Ctc p.F63L TMEM243_ENST00000423734.1_Missense_Mutation_p.F63L|TMEM243_ENST00000257637.3_Missense_Mutation_p.F63L|TMEM243_ENST00000481425.1_5'UTR transmembrane protein 243, mitochondrial ACAGCAAAGAATATATTCAAC 0.368000 40 60 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860461 151860461 + Nonsense_Mutation SNP T T A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr7:151860461T>A ENST00000355193.2 - 43 10419 c.10201A>T c.(10201-10203)Aag>Tag p.K3401* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.K3401* lysine (K)-specific methyltransferase 2C AAACGTTCCTTACGTTCCCGT 0.463000 78 112 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123519800 123519800 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chrX:123519800G>A ENST00000422452.2 - 29 5866 c.5803C>T c.(5803-5805)Ctt>Ttt p.L1935F STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L1928F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCCACTGAAAGCATGGTTTGT 0.507000 43 4 0 0 1 0 0 SPTLC2 9517 broad.mit.edu 37 14 78045300 78045300 + Silent SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr14:78045300G>A ENST00000216484.2 - 3 673 c.480C>T c.(478-480)ttC>ttT p.F160F NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 160 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGACTCACTTGAAGGACCAGT 0.383000 25 34 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6061422 6061422 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr10:6061422C>T ENST00000379959.3 - 6 869 c.696G>A c.(694-696)acG>acA p.T232T IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 232 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TAAATATGGACGTCTCCATGG 0.468000 32 69 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722197 8722197 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr20:8722197G>A ENST00000378641.3 + 23 2975 c.2500G>A c.(2500-2502)Gat>Aat p.D834N PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.D834N|PLCB1_ENST00000378637.2_Missense_Mutation_p.D834N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 834 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GACACTGGAAGATGAAGAAGA 0.388000 13 21 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91792393 91792393 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr14:91792393C>T ENST00000389857.6 - 11 1144 c.1058G>A c.(1057-1059)aGa>aAa p.R353K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 353 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) ATTATCTTCTCTCAGCTCCTG 0.458000 6 5 0 0 1 0 0 MPV17L2 84769 broad.mit.edu 37 19 18305642 18305642 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:18305642G>T ENST00000599612.2 + 3 514 c.414G>T c.(412-414)gaG>gaT p.E138D NM_032683.2 NP_116072.2 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 138 integral to membrane large_intestine(1)|lung(2)|urinary_tract(1) 4 AGCTGCGGGAGAAGTTCTGGG 0.647000 4 12 0.014758 0.0149013 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96761879 96761879 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr4:96761879G>A ENST00000295266.4 + 1 641 c.578G>A c.(577-579)gGg>gAg p.G193E NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 193 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACTTTATATGGGGATGGCGCT 0.488000 36 54 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 99 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530312 140530312 + Silent SNP T T C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:140530312T>C ENST00000231136.1 + 1 474 c.474T>C c.(472-474)gaT>gaC p.D158D PCDHB6_ENST00000543635.1_Silent_p.D22D NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 158 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCACACGATTTAGACACCG 0.498000 74 115 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255371 52255371 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr3:52255371G>C ENST00000494383.1 - 5 3420 c.3421C>G c.(3421-3423)Ctg>Gtg p.L1141V TLR9_ENST00000597542.1_Silent_p.L1011L|TLR9_ENST00000360658.2_Silent_p.L987L Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|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-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCTGGCGGCAGAGGCGCTGGC 0.701000 24 32 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288250 132288250 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr2:132288250C>T ENST00000467992.2 + 1 1014 c.700C>T c.(700-702)Cct>Tct p.P234S CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.P132S Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 132 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGGACCCAGCCCTGCCAGGCT 0.667000 16 41 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186790663 186790663 + Silent SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr3:186790663C>G ENST00000169298.3 + 6 1406 c.732C>G c.(730-732)ctC>ctG p.L244L ST6GAL1_ENST00000457772.2_Silent_p.L13L|ST6GAL1_ENST00000448044.1_Silent_p.L244L NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 244 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) AGCGCTTCCTCAAAGACAGTT 0.428000 16 140 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586585 86586585 + Splice_Site SNP A A C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr9:86586585A>C ENST00000376263.3 - 12 1232 c.e12+1 HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000376264.2_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 CAAAGTTCTTACCATGCCGTC 0.418000 58 79 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190739 48190739 + Silent SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr18:48190739C>G ENST00000400384.2 + 2 1447 c.411C>G c.(409-411)ctC>ctG p.L137L MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.L137L|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Silent_p.L137L NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 137 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TCCGCGGGCTCAAGTACATCC 0.597000 29 36 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169484757 169484757 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:169484757C>G ENST00000367796.3 - 24 6669 c.6468G>C c.(6466-6468)aaG>aaC p.K2156N F5_ENST00000367797.3_Missense_Mutation_p.K2151N P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2151 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGGTATAGCTCTTTACATACA 0.443000 59 88 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19319043 19319043 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr17:19319043C>G ENST00000461366.1 + 14 1666 c.1451C>G c.(1450-1452)tCt>tGt p.S484C NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 484 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CGCATATTCTCTGCGCTGCGG 0.607000 7 31 0 0 1 0 0 EFHD2 79180 broad.mit.edu 37 1 15736684 15736684 + Nonsense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:15736684C>T ENST00000375980.4 + 1 294 c.217C>T c.(217-219)Cag>Tag p.Q73* NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 73 membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CGGCGAGCCCCAGTCGCCCAG 0.657000 13 22 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C C T rs121913482 TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr4:1803564C>T ENST00000340107.4 + 7 998 c.742C>T c.(742-744)Cgc>Tgc p.R248C FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 248 R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.741000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 11 5 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394604 29394604 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:29394604G>A ENST00000377149.1 - 5 1287 c.815C>T c.(814-816)tCc>tTc p.S272F OR11A1_ENST00000377147.2_Missense_Mutation_p.S272F|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.S272F Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 272 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 GAAGACCTTGGAGAGGAGCTG 0.502000 30 57 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70052399 70052399 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr11:70052399G>C ENST00000301838.4 + 2 744 c.447G>C c.(445-447)aaG>aaC p.K149N RP11-805J14.5_ENST00000526174.1_RNA NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 149 Death. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GAATCTGGAAGAACACAGAGA 0.572000 4 51 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741378 140741378 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:140741378C>T ENST00000522605.1 + 1 1676 c.1676C>T c.(1675-1677)gCg>gTg p.A559V PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGACAATGCGCCACGGGTG 0.692000 14 43 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70818258 70818258 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:70818258G>C ENST00000358731.4 + 23 5397 c.5134G>C c.(5134-5136)Ggc>Cgc p.G1712R BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1712 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAGCAAGGAAGGCAAGCCAGA 0.378000 40 63 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28447299 28447299 + Missense_Mutation SNP T T A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr15:28447299T>A ENST00000261609.7 - 47 7685 c.7577A>T c.(7576-7578)gAg>gTg p.E2526V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2526 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACCACCTCCTCGTCAGAATA 0.612000 7 25 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87751887 87751887 + Missense_Mutation SNP T T C rs35077504 TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr8:87751887T>C ENST00000320005.5 - 2 254 c.207A>G c.(205-207)atA>atG p.I69M RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 69 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCTGACCTTGTATGTTGGTGT 0.338000 20 19 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999588 72999588 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr18:72999588C>T ENST00000322038.5 + 2 2675 c.2091C>T c.(2089-2091)ttC>ttT p.F697F TSHZ1_ENST00000580243.1_Silent_p.F742F NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 742 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) AGCCTTCCTTCATCAACCCGC 0.577000 16 21 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38102907 38102907 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:38102907C>T ENST00000592533.1 + 5 1058 c.726C>T c.(724-726)ccC>ccT p.P242P ZNF540_ENST00000316433.4_Silent_p.P242P|ZNF540_ENST00000343599.5_Silent_p.P242P|ZNF540_ENST00000589117.1_Silent_p.P210P NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGAGAAACCCTATGAATGTC 0.353000 15 25 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28761224 28761224 + Silent SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr2:28761224G>C ENST00000422425.2 + 10 671 c.627G>C c.(625-627)ggG>ggC p.G209G PLB1_ENST00000327757.5_Silent_p.G198G NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 198 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) AGCTGATGGGGGTGCTGGACT 0.667000 4 18 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18814555 18814555 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr17:18814555G>C ENST00000268835.2 + 9 1007 c.724G>C c.(724-726)Gag>Cag p.E242Q PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E156Q|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E202Q|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.E242Q NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 242 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 CCCCAGCCTGGAGATCCCCAG 0.527000 19 48 0 0 1 0 0 ASAH1 427 broad.mit.edu 37 8 17924741 17924741 + Missense_Mutation SNP C C A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr8:17924741C>A ENST00000262097.6 - 5 681 c.370G>T c.(370-372)Gat>Tat p.D124Y ASAH1_ENST00000381733.4_Missense_Mutation_p.D140Y|ASAH1_ENST00000314146.10_Missense_Mutation_p.D118Y|ASAH1_ENST00000417108.2_Missense_Mutation_p.D59Y|ASAH1_ENST00000520781.1_Missense_Mutation_p.D124Y NM_177924.3 NP_808592.2 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 124 D -> E (in dbSNP:rs2472205). ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) AAAGGTATATCAGTAACAGCG 0.343000 12 15 4.36969e-10 4.68503e-10 1 1 0 PRR12 57479 broad.mit.edu 37 19 50119181 50119181 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:50119181C>T ENST00000418929.2 + 9 5214 c.5202C>T c.(5200-5202)ctC>ctT p.L1734L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 913 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGCCCTCCCTCCTGCGGCCTG 0.647000 4 5 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3240188 3240188 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr20:3240188G>T ENST00000252032.9 - 33 3060 c.2993C>A c.(2992-2994)tCc>tAc p.S998Y C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 998 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGGCTTGATGGAGGACTGAAT 0.542000 19 36 6.94344e-10 7.36855e-10 1 1 0 LDLR 3949 broad.mit.edu 37 19 11242044 11242044 + Silent SNP G G A rs14158 byFrequency TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:11242044G>A ENST00000557933.1 + 18 2784 c.2697G>A c.(2695-2697)ccG>ccA p.P899P LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000455727.2_3'UTR P01130 LDLR_HUMAN low density lipoprotein receptor 0 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AGACCTCGCCGGCCTTGTTTT 0.507000 OREG0025249 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 48 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17382623 17382623 + Nonsense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr7:17382623C>T ENST00000242057.4 + 11 3125 c.2482C>T c.(2482-2484)Cag>Tag p.Q828* NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 828 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CACACATCTTCAGCCACTTCA 0.378000 14 149 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 10 20 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58980000 58980000 + Nonsense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr11:58980000G>C ENST00000361050.3 - 1 424 c.339C>G c.(337-339)taC>taG p.Y113* NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 113 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TGTTGATGGAGTAGGAGGTGC 0.453000 60 89 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24349447 24349447 + Missense_Mutation SNP C C T rs144309204 TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr8:24349447C>T ENST00000175238.6 + 14 1471 c.1388C>T c.(1387-1389)gCg>gTg p.A463V ADAM7_ENST00000520720.1_Missense_Mutation_p.A235V|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A463V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 463 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGCAGACCGGCGAAAGATGAA 0.443000 11 26 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10403647 10403647 + Silent SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:10403647G>C ENST00000274140.5 + 15 1458 c.1326G>C c.(1324-1326)ctG>ctC p.L442L MARCH6_ENST00000449913.2_Silent_p.L394L|MARCH6_ENST00000503788.1_Silent_p.L337L|MARCH6_ENST00000510792.1_Silent_p.L140L NM_005885.3 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 442 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TTCTACTACTGAGAGAGGTAA 0.428000 6 70 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172585837 172585837 + Silent SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:172585837C>G ENST00000231668.9 + 5 593 c.489C>G c.(487-489)ctC>ctG p.L163L BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Silent_p.L120L|BNIP1_ENST00000352523.6_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 120 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex 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) GAGGAGATCTCTTAAGGCAAA 0.423000 25 41 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69954464 69954464 + Silent SNP T T C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr11:69954464T>C ENST00000355303.5 + 6 1058 c.753T>C c.(751-753)taT>taC p.Y251Y ANO1_ENST00000531349.1_5'UTR|ANO1_ENST00000398543.2_Silent_p.Y135Y|ANO1_ENST00000538023.1_Silent_p.Y251Y|ANO1_ENST00000316296.5_Silent_p.Y223Y|ANO1_ENST00000530676.1_Silent_p.Y135Y NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 251 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AATAGGTCTATGAGATCTTGA 0.502000 4 51 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87635188 87635188 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr9:87635188C>T ENST00000376214.1 + 20 3178 c.2240C>T c.(2239-2241)aCg>aTg p.T747M NTRK2_ENST00000277120.3_Missense_Mutation_p.T747M|NTRK2_ENST00000323115.4_Missense_Mutation_p.T731M|NTRK2_ENST00000376213.1_Missense_Mutation_p.T731M NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 731 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 AGGAAATTCACGACGGAAAGC 0.547000 TSP Lung(25;0.17) 48 55 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10625856 10625856 + Missense_Mutation SNP T T C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr20:10625856T>C ENST00000254958.5 - 17 2677 c.2162A>G c.(2161-2163)tAt>tGt p.Y721C JAG1_ENST00000423891.2_Missense_Mutation_p.Y562C|JAG1_ENST00000488480.1_RNA NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 721 EGF-like 13. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CCCCTCATCATAGCAGGTGCC 0.542000 Alagille Syndrome 30 35 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 12934082 12934082 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:12934082G>C ENST00000379348.2 + 4 645 c.468G>C c.(466-468)agG>agC p.R156S PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 0 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CTAAGAGAAGGAGGGTGGTTT 0.512000 12 13 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228283 140228283 + Missense_Mutation SNP C C T rs71588635 TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:140228283C>T ENST00000378122.3 + 1 927 c.203C>T c.(202-204)tCc>tTc p.S68F PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S68F|PCDHA5_ENST00000529619.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTGGATTCCAAAGGCCGC 0.642000 7 198 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10355185 10355185 + Silent SNP T T A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:10355185T>A ENST00000377086.1 + 18 1834 c.1632T>A c.(1630-1632)tcT>tcA p.S544S KIF1B_ENST00000377093.4_Silent_p.S498S|KIF1B_ENST00000377081.1_Silent_p.S544S|KIF1B_ENST00000377083.1_Silent_p.S498S|KIF1B_ENST00000263934.6_Silent_p.S498S O60333 KIF1B_HUMAN kinesin family member 1B 544 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CACTAATGTCTGAGTGCCTAC 0.388000 26 23 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70572316 70572316 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr16:70572316G>C ENST00000302516.5 + 7 1127 c.916G>C c.(916-918)Gag>Cag p.E306Q NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 306 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GGCTCAAACTGAGCAGGGAGA 0.408000 38 53 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109405321 109405321 + Missense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr2:109405321C>G ENST00000295124.4 + 3 225 c.165C>G c.(163-165)atC>atG p.I55M CCDC138_ENST00000412964.2_Missense_Mutation_p.I55M|CCDC138_ENST00000470608.1_3'UTR NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 55 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 ATTTGGATATCTACTCTGGAG 0.348000 38 41 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214537996 214537996 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:214537996C>T ENST00000366956.5 - 18 3488 c.3294G>A c.(3292-3294)tcG>tcA p.S1098S PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1098 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGCGACGGACCGACTGGATCT 0.587000 3 46 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22938109 22938109 + RNA SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr14:22938109G>C ENST00000514473.2 - 0 225 TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA TTCTGGGTCAGAATGTGTTTC 0.443000 27 31 0 0 1 0 0 RPL28 6158 broad.mit.edu 37 19 55898022 55898022 + Missense_Mutation SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:55898022G>A ENST00000344063.2 + 3 795 c.166G>A c.(166-168)Gac>Aac p.D56N RPL28_ENST00000560583.1_Missense_Mutation_p.D56N|RPL28_ENST00000560055.1_Missense_Mutation_p.D56N|RPL28_ENST00000558815.1_Missense_Mutation_p.D56N|RPL28_ENST00000558131.1_Missense_Mutation_p.D56N|RPL28_ENST00000428193.2_Missense_Mutation_p.D56N|RPL28_ENST00000458349.2_Missense_Mutation_p.D56N|RPL28_ENST00000431533.2_Missense_Mutation_p.D56N|RPL28_ENST00000559463.1_Missense_Mutation_p.D56N|RPL28_ENST00000558752.1_Missense_Mutation_p.D56N P46779 RL28_HUMAN ribosomal protein L28 56 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GCCGGCAGCCGACGGCAAAGG 0.602000 8 92 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273251 145273251 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr1:145273251G>T ENST00000369340.3 + 4 549 c.105G>T c.(103-105)caG>caT p.Q35H NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q35H|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q35H|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q35H Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 35 EGF-like 2. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 ACCGCTGCCAGAATGGTGGGA 0.532000 26 142 3.11337e-16 3.48162e-16 1 1 0 KDM6A 7403 broad.mit.edu 37 X 44941858 44941858 + Nonsense_Mutation SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chrX:44941858C>G ENST00000377967.4 + 21 3223 c.3182C>G c.(3181-3183)tCa>tGa p.S1061* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S982*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S1016*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S1068* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1061 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AAAGACCACTCAGATAGTGAA 0.313000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 16 3 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39883761 39883761 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr22:39883761C>T ENST00000341184.6 + 2 624 c.409C>T c.(409-411)Cct>Tct p.P137S NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 137 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGAGGAGAAGCCTGAGGGGGC 0.741000 4 4 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6588793 6588793 + Silent SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr4:6588793C>T ENST00000285599.3 + 4 498 c.462C>T c.(460-462)ggC>ggT p.G154G MAN2B2_ENST00000504248.1_Silent_p.G154G NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 154 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 ACCCGTTTGGCGCCTCTGCCA 0.612000 3 41 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30941252 30941252 + Missense_Mutation SNP A A G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr8:30941252A>G ENST00000298139.5 + 10 1556 c.1307A>G c.(1306-1308)tAt>tGt p.Y436C NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 436 2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GATACGTCCTATGTAATTGAG 0.274000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 13 20 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41542788 41542788 + Missense_Mutation SNP A A T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr22:41542788A>T ENST00000263253.7 + 11 3318 c.2099A>T c.(2098-2100)aAc>aTc p.N700I NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 700 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGTGTGCCAAACCAGATGATG 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 3 52 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125874007 125874007 + Translation_Start_Site SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr11:125874007G>T ENST00000531738.1 - 0 333 CDON_ENST00000392693.3_Intron|CDON_ENST00000263577.7_Intron Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AAGAAAAGCAGGAGATGGAGG 0.418000 6 14 4.096e-09 4.30287e-09 1 1 0 PSG2 5670 broad.mit.edu 37 19 43579718 43579718 + Missense_Mutation SNP A A T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr19:43579718A>T ENST00000406487.1 - 3 595 c.497T>A c.(496-498)aTc>aAc p.I166N NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 166 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ACAGGTTAAGATCACAGTTTC 0.517000 111 166 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130580469 130580469 + Missense_Mutation SNP A A T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr9:130580469A>T ENST00000344849.3 - 12 1896 c.1616T>A c.(1615-1617)gTa>gAa p.V539E ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Missense_Mutation_p.V539E P17813 EGLN_HUMAN endoglin 539 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GGGTATGGGTACTGTGTAGAA 0.662000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 19 24 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32749720 32749720 + Missense_Mutation SNP T T C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr13:32749720T>C ENST00000380250.3 + 20 2868 c.2372T>C c.(2371-2373)cTa>cCa p.L791P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 791 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATGGATCAGCTAAGTTCTTCC 0.438000 26 23 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172585777 172585777 + Silent SNP C C G TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr5:172585777C>G ENST00000231668.9 + 5 533 c.429C>G c.(427-429)ctC>ctG p.L143L BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Silent_p.L100L|BNIP1_ENST00000352523.6_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 100 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex 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) AAGCTAATCTCACCTGCAAAA 0.448000 27 50 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9256874 9256874 + Missense_Mutation SNP G G C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr12:9256874G>C ENST00000318602.7 - 11 1534 c.1227C>G c.(1225-1227)atC>atG p.I409M NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 409 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TGGTGGTGTTGATAGAGAACT 0.408000 7 6 0 0 1 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783103 27783103 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:27783103G>T ENST00000359465.4 + 1 282 c.282G>T c.(280-282)gaG>gaT p.E94D NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 94 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 CTTCGAGGGAGATCCAGACGG 0.587000 34 42 1.62565e-12 1.77966e-12 1 1 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 30 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131761947 131761947 + Nonsense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr10:131761947G>T ENST00000368648.3 - 1 158 c.86C>A c.(85-87)tCg>tAg p.S29* EBF3_ENST00000355311.5_Nonsense_Mutation_p.S29* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 29 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GTGCATCCACGAGCGCACCGG 0.721000 14 28 6.31663e-08 6.56929e-08 1 1 0 SNX20 124460 broad.mit.edu 37 16 50707941 50707941 + Silent SNP G G A TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr16:50707941G>A ENST00000330943.4 - 4 498 c.327C>T c.(325-327)aaC>aaT p.N109N SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 109 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 GGACGGCCTTGTTGTTGTCAA 0.602000 18 24 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38538894 38538894 + Missense_Mutation SNP C C T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr21:38538894C>T ENST00000399017.2 + 33 7125 c.4378C>T c.(4378-4380)Cac>Tac p.H1460Y TTC3_ENST00000354749.2_Missense_Mutation_p.H1460Y|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H1460Y NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1460 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAACATTCCACACGTGCAGAT 0.358000 24 32 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52256307 52256307 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr3:52256307G>T ENST00000597542.1 - 9 3054 c.2097C>A c.(2095-2097)ttC>ttA p.F699L TLR9_ENST00000494383.1_Missense_Mutation_p.P829T|TLR9_ENST00000360658.2_Missense_Mutation_p.F675L Q9NR96 TLR9_HUMAN toll-like receptor 9 675 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|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-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GTTTGGGCAGGAAGTGGAGGC 0.617000 43 49 3.05275e-18 3.45093e-18 1 1 0 SEC14L2 23541 broad.mit.edu 37 22 30818363 30818363 + Missense_Mutation SNP G G T TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr22:30818363G>T ENST00000312932.9 + 12 1439 c.1179G>T c.(1177-1179)aaG>aaT p.K393N SEC14L2_ENST00000403484.1_Missense_Mutation_p.K319N|SEC14L2_ENST00000402592.3_Missense_Mutation_p.K310N|RP4-539M6.19_ENST00000439838.1_Intron NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 393 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) CAGAAGAGAAGATGAAACAGC 0.517000 30 37 2.4375e-19 2.78571e-19 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168115601 168115601 + Frame_Shift_Del DEL A A - TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr2:168115601delA ENST00000409728.1 + 11 2733 c.2644delA c.(2644-2646)aaafs p.K882fs XIRP2_ENST00000409605.1_Frame_Shift_Del_p.K627fs|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.K849fs|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.K882fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.K849fs|XIRP2_ENST00000409195.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 ATTTTCCAAGAAAAATGAGAA 0.299 14 34 --- --- --- --- CNR1 1268 broad.mit.edu 37 6 88854860 88854860 + Frame_Shift_Del DEL G G - TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr6:88854860delG ENST00000537554.1 - 2 3696 c.134delC c.(133-135)ccafs p.P45fs CNR1_ENST00000428600.2_Frame_Shift_Del_p.P45fs|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000549890.1_Frame_Shift_Del_p.P45fs|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Frame_Shift_Del_p.P45fs|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Frame_Shift_Del_p.P45fs|CNR1_ENST00000369501.2_Frame_Shift_Del_p.P45fs NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 45 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GAATTTCTGTGGGAAGTACCC 0.498 37 34 --- --- --- --- DZIP1 22873 broad.mit.edu 37 13 96264368 96264369 + Frame_Shift_Ins INS - - C TCGA-CF-A47Y-01A-11D-A23U-08 TCGA-CF-A47Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7cc5ca5-af6e-4148-ad09-e176c6c9ae60 5aed5223-6b9c-4905-b96a-b64682883413 g.chr13:96264368_96264369insC ENST00000347108.3 - 9 1668_1669 c.1236_1237insG c.(1234-1239)gttttcfs p.F413fs DZIP1_ENST00000376829.2_Frame_Shift_Ins_p.F413fs|DZIP1_ENST00000361396.2_Frame_Shift_Ins_p.F413fs|DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.F413fs Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 413 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ttcttatagaaaacattgcttg 0.421 43 48 --- --- --- ---