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 RAB26 25837 broad.mit.edu 37 16 2201695 2201695 + Splice_Site SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:2201695G>T ENST00000210187.6 + 4 508 c.e4-1 RAB26_ENST00000541451.1_Splice_Site NM_014353.4 NP_055168.2 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding kidney(1)|large_intestine(1)|lung(3) 5 TGTCGCTGCAGATGTGGGACA 0.622000 16 31 7.05477e-17 9.10387e-17 0.004990 1 0 ENTPD6 955 broad.mit.edu 37 20 25197285 25197285 + Splice_Site SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:25197285C>A ENST00000360031.2 + 8 890 c.706_splice c.e8-1 p.G236_splice ENTPD6_ENST00000376652.4_Splice_Site_p.G237_splice|ENTPD6_ENST00000354989.5_Splice_Site_p.G220_splice|ENTPD6_ENST00000433259.2_Splice_Site_p.G237_splice NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 237 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GTGCTCCAGGCAGCTTGAAAA 0.572000 9 17 4.68919e-08 5.67447e-08 0.008291 1 0 STAB2 55576 broad.mit.edu 37 12 104118864 104118864 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:104118864A>T ENST00000388887.2 + 45 4999 c.4795A>T c.(4795-4797)Att>Ttt p.I1599F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1599 FAS1 5. IY -> HE (in Ref. 7; AAF82398). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCGCGGCAGCATTTATCAGGT 0.438000 67 16 0 0 0.014410 0 0 PPEF2 5470 broad.mit.edu 37 4 76813090 76813090 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:76813090A>C ENST00000286719.7 - 3 453 c.97T>G c.(97-99)Tac>Gac p.Y33D PPEF2_ENST00000510607.1_5'UTR NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 33 IQ. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CGGGCCACGTAGCGCCGGTAC 0.577000 28 72 0 0 0.004656 0 0 IL2RA 3559 broad.mit.edu 37 10 6061875 6061875 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:6061875C>T ENST00000379959.3 - 5 786 c.613G>A c.(613-615)Ggc>Agc p.G205S IL2RA_ENST00000256876.6_Missense_Mutation_p.G196S|IL2RA_ENST00000379954.1_Missense_Mutation_p.G133S NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 205 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) TCAGGACGGCCTTCGGGGCTT 0.597000 30 59 0 0 0.008361 0 0 VASP 7408 broad.mit.edu 37 19 46027399 46027399 + Splice_Site SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:46027399A>T ENST00000245932.6 + 10 1311 c.956_splice c.e10+1 p.R319_splice NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 319 EVH2. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) AACCTTGCCAAGGTAGGCCAT 0.577000 OREG0025556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 29 0 0 0.008361 0 0 PTPRM 5797 broad.mit.edu 37 18 8296397 8296397 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr18:8296397A>C ENST00000332175.8 + 18 3784 c.2747A>C c.(2746-2748)gAc>gCc p.D916A PTPRM_ENST00000580170.1_Missense_Mutation_p.D929A|PTPRM_ENST00000444013.1_Missense_Mutation_p.D703A|PTPRM_ENST00000400053.4_Missense_Mutation_p.D854A|PTPRM_ENST00000400060.4_Missense_Mutation_p.D930A NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 916 Tyrosine-protein phosphatase 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GCACCATGGGACTCGGCTAAG 0.423000 3 38 0 0 0.004672 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274113 39274113 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:39274113G>A ENST00000391413.2 - 1 493 c.455C>T c.(454-456)tCc>tTc p.S152F NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 152 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcagcagctggattcacagca 0.657000 9 27 0 0 0.006214 0 0 USP8 9101 broad.mit.edu 37 15 50769168 50769168 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:50769168G>A ENST00000433963.1 + 10 1472 c.972G>A c.(970-972)caG>caA p.Q324Q USP8_ENST00000396444.3_Silent_p.Q324Q|USP8_ENST00000307179.4_Silent_p.Q324Q|USP8_ENST00000425032.3_Silent_p.Q247Q NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 324 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CACGACGCCAGAATGAAGAGG 0.393000 26 14 0 0 0.006320 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83820108 83820108 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:83820108G>A ENST00000299633.4 - 5 1068 c.465C>T c.(463-465)tcC>tcT p.S155S NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 155 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 ACTGTTTAGAGGATTTCTAAA 0.393000 17 31 0 0 0.004990 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245997 1245997 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:1245997C>T ENST00000348261.5 + 5 865 c.617C>T c.(616-618)cCc>cTc p.P206L CACNA1H_ENST00000358590.4_Missense_Mutation_p.P206L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P206L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 206 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GTGCTGCGGCCCCTCCGCGCC 0.657000 41 56 0 0 0.011902 0 0 NAV2 89797 broad.mit.edu 37 11 19970445 19970445 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:19970445G>A ENST00000396085.1 + 10 2825 c.2464G>A c.(2464-2466)Gtg>Atg p.V822M NAV2_ENST00000527559.2_Missense_Mutation_p.V774M|NAV2_ENST00000360655.4_Missense_Mutation_p.V758M|NAV2_ENST00000396087.3_Missense_Mutation_p.V845M|NAV2_ENST00000540292.1_Missense_Mutation_p.V776M|NAV2_ENST00000349880.4_Missense_Mutation_p.V822M NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 845 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGGTCGCTATGTGTACTCCGC 0.612000 40 14 0 0 0.014410 0 0 ALS2 57679 broad.mit.edu 37 2 202625540 202625540 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:202625540C>T ENST00000467448.1 - 4 1316 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K ALS2_ENST00000264276.6_Intron NM_001135745.1 NP_001129217.1 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 0 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TTTAAAGTTTCTAAAGAAAAG 0.348000 3 10 0 0 0.004672 0 0 NPFFR1 64106 broad.mit.edu 37 10 72020461 72020461 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:72020461G>A ENST00000277942.5 - 3 364 c.357C>T c.(355-357)agC>agT p.S119S NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 119 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 GCACCAAGCCGCTCATCTTGC 0.567000 7 17 0 0 0.001984 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917406 89917406 + Silent SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:89917406A>T ENST00000548729.1 - 3 1214 c.912T>A c.(910-912)ccT>ccA p.P304P POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Silent_p.P307P|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.P135P NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 CAGCCATGGTAGGTGATCTGA 0.473000 7 79 0 0 0.004482 0 0 SUPT6H 6830 broad.mit.edu 37 17 27009843 27009843 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:27009843C>T ENST00000314616.6 + 14 1979 c.1696C>T c.(1696-1698)Ccc>Tcc p.P566S SUPT6H_ENST00000347486.4_Missense_Mutation_p.P566S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 566 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCCCGCGGAGCCCTTGGAGCT 0.602000 33 46 0 0 0.012213 0 0 CCDC132 55610 broad.mit.edu 37 7 92869194 92869194 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:92869194C>G ENST00000305866.5 + 2 177 c.49C>G c.(49-51)Caa>Gaa p.Q17E CCDC132_ENST00000535481.1_Missense_Mutation_p.Q17E|CCDC132_ENST00000251739.5_Missense_Mutation_p.Q17E|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_5'UTR NM_017667.3 NP_060137.2 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 17 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GAAAAGCCCTCAAGAAAGCCT 0.378000 62 113 0 0 0.014410 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79770505 79770505 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:79770505G>A ENST00000338008.5 + 17 4497 c.4317G>A c.(4315-4317)caG>caA p.Q1439Q ZFYVE16_ENST00000510158.1_Silent_p.Q1439Q|ZFYVE16_ENST00000505560.1_Silent_p.Q1439Q NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1439 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAAAGGACCAGGATTTATCTA 0.333000 29 17 0 0 0.009535 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736633 20736633 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:20736633C>T ENST00000427401.4 - 2 106 c.12G>A c.(10-12)ttG>ttA p.L4L ZNF737_ENST00000596797.1_Silent_p.L4L|CTC-513N18.7_ENST00000595094.1_lincRNA NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 4 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 CTCTAAATTGCAATGGCCCCT 0.403000 36 44 0 0 0.008740 0 0 NOS2 4843 broad.mit.edu 37 17 26125804 26125804 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:26125804G>C ENST00000313735.6 - 2 265 c.32C>G c.(31-33)aCc>aGc p.T11S NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 11 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTGGAATTTGGTCTTGAACAG 0.458000 33 33 0 0 0.012213 0 0 GRSF1 2926 broad.mit.edu 37 4 71702029 71702029 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:71702029C>T ENST00000254799.6 - 2 477 c.360G>A c.(358-360)gaG>gaA p.E120E GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000545193.1_Silent_p.E2E NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 120 mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) TAGTTTTGGACTCCTTCCAAA 0.368000 29 53 0 0 0.004289 0 0 PTPN14 5784 broad.mit.edu 37 1 214542900 214542900 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:214542900C>T ENST00000366956.5 - 17 3365 c.3171G>A c.(3169-3171)aaG>aaA p.K1057K PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1057 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) GGTGCTTGACCTTCAAGCCCG 0.478000 94 204 0 0 0.014410 0 0 TRIM40 135644 broad.mit.edu 37 6 30105123 30105123 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30105123G>A ENST00000396581.1 + 2 696 c.310G>A c.(310-312)Gaa>Aaa p.E104K TRIM40_ENST00000376724.2_Missense_Mutation_p.E104K|TRIM40_ENST00000307859.4_Missense_Mutation_p.E104K Q6P9F5 TRI40_HUMAN tripartite motif containing 40 104 intracellular zinc ion binding ovary(1) 1 GTCTCATCATGAACTGACCAT 0.552000 61 76 0 0 0.014410 0 0 RNF213 57674 broad.mit.edu 37 17 78322014 78322014 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:78322014C>A ENST00000582970.1 + 29 10022 c.9879C>A c.(9877-9879)caC>caA p.H3293Q RNF213_ENST00000508628.2_Missense_Mutation_p.H3342Q|RNF213_ENST00000336301.6_Missense_Mutation_p.H1366Q NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACAGAGGCACAACTCCTTTG 0.597000 3 44 6.4e-05 7.62605e-05 0.004672 1 0 LMNA 4000 broad.mit.edu 37 1 156106747 156106747 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:156106747G>A ENST00000368300.4 + 8 1628 c.1416G>A c.(1414-1416)caG>caA p.Q472Q LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000448611.2_Silent_p.Q360Q|LMNA_ENST00000473598.2_Silent_p.Q373Q|LMNA_ENST00000392353.3_Silent_p.Q391Q|LMNA_ENST00000368297.1_Silent_p.Q391Q|LMNA_ENST00000368299.3_Silent_p.Q472Q|LMNA_ENST00000361308.4_Silent_p.Q472Q|LMNA_ENST00000347559.2_Silent_p.Q472Q|LMNA_ENST00000368301.2_Silent_p.Q472Q NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 472 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) TCAAGCGCCAGAATGGAGATG 0.592000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 23 19 0 0 0.002780 0 0 RMDN1 51115 broad.mit.edu 37 8 87519250 87519250 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:87519250G>A ENST00000406452.3 - 2 380 c.221C>T c.(220-222)gCt>gTt p.A74V CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Missense_Mutation_p.A30V|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000430676.2_Missense_Mutation_p.A74V|RMDN1_ENST00000519966.1_Missense_Mutation_p.A74V NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 AACCACAGCAGCCTGAGAGAT 0.368000 93 150 0 0 0.014410 0 0 BRINP1 1620 broad.mit.edu 37 9 121929820 121929820 + Missense_Mutation SNP T T G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:121929820T>G ENST00000265922.3 - 8 2289 c.1828A>C c.(1828-1830)Aca>Cca p.T610P DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 610 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TCGAAAAATGTTTTCCACCGA 0.557000 116 29 0 0 0.014410 0 0 LEFTY2 7044 broad.mit.edu 37 1 226125198 226125198 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:226125198C>A ENST00000366820.5 - 4 1392 c.1044G>T c.(1042-1044)gtG>gtT p.V348V LEFTY2_ENST00000420304.2_Silent_p.V314V|RP4-559A3.6_ENST00000513672.1_RNA NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 348 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) TGCACTTCTGCACCCTCATGT 0.617000 35 59 3.11337e-16 3.98461e-16 0.013726 1 0 PRKCG 5582 broad.mit.edu 37 19 54401792 54401792 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:54401792G>C ENST00000263431.3 + 11 1473 c.1191G>C c.(1189-1191)ctG>ctC p.L397L PRKCG_ENST00000540413.1_Silent_p.L397L|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000542049.1_Silent_p.L284L NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 397 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACTGCACGCTGGTGGAGAAAC 0.637000 13 19 0 0 0.013537 0 0 RECQL5 9400 broad.mit.edu 37 17 73624385 73624385 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:73624385G>A ENST00000317905.5 - 18 2877 c.2718C>T c.(2716-2718)tcC>tcT p.S906S RECQL5_ENST00000423245.2_Silent_p.S879S|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 906 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.S879S(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CGCCAGGAGCGGAGAGCTGGA 0.597000 Other identified genes with known or suspected DNA repair function 8 49 0 0 0.003080 0 0 TAF6 6878 broad.mit.edu 37 7 99711345 99711345 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:99711345G>A ENST00000344095.4 - 4 816 c.291C>T c.(289-291)gcC>gcT p.A97A TAF6_ENST00000437822.2_Silent_p.A134A|TAF6_ENST00000418432.2_Silent_p.A40A|TAF6_ENST00000472509.1_Silent_p.A154A|TAF6_ENST00000452041.1_Silent_p.A97A|TAF6_ENST00000453269.2_Silent_p.A97A NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 97 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCCACCAGAGGCGAAGCGGA 0.607000 5 29 0 0 0.001984 0 0 ATP8A1 10396 broad.mit.edu 37 4 42618055 42618055 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:42618055G>A ENST00000381668.5 - 5 635 c.404C>T c.(403-405)aCg>aTg p.T135M ATP8A1_ENST00000264449.10_Missense_Mutation_p.T135M NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 135 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.T135M(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CCTACCTTGCGTTTGTTTCTT 0.284000 23 10 0 0 0.002780 0 0 CIITA 4261 broad.mit.edu 37 16 11004076 11004076 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:11004076G>T ENST00000324288.8 + 13 2981 c.2848G>T c.(2848-2850)Gag>Tag p.E950* CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Nonsense_Mutation_p.E366* NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 950 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CACAGCTGGGGAGCTCCCTGC 0.557000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 11 22 0.00010058 0.000118937 0.013537 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 13 79 0 0 0.004007 0 0 FAM8A1 51439 broad.mit.edu 37 6 17600920 17600920 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:17600920G>A ENST00000259963.3 + 1 335 c.280G>A c.(280-282)Gag>Aag p.E94K NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 94 integral to membrane p.E94K(1)|p.E94Q(1) endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GGCGGGCTGCGAGGCGCCCGA 0.731000 18 11 0 0 0.006122 0 0 ZNF845 91664 broad.mit.edu 37 19 53854940 53854940 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:53854940C>G ENST00000458035.1 + 4 1129 c.1012C>G c.(1012-1014)Caa>Gaa p.Q338E ZNF845_ENST00000595091.1_Missense_Mutation_p.Q338E NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GACCTTCAGTCAAACGTCATA 0.388000 29 50 0 0 0.008361 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899008 112899008 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:112899008G>A ENST00000374530.3 + 8 1364 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q AKAP2_ENST00000555236.1_Missense_Mutation_p.R395Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R395Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R395Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.R253Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.R253Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.R164Q NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 164 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGTTCTTCCCGAGATGGAGAG 0.572000 47 9 0 0 0.011902 0 0 SLC35F1 222553 broad.mit.edu 37 6 118556746 118556746 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:118556746G>T ENST00000360388.4 + 3 625 c.424G>T c.(424-426)Gca>Tca p.A142S NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 142 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) AGACCTGGAAGCAAATTATCT 0.423000 23 37 1.28384e-07 1.54757e-07 0.012319 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38651237 38651237 + RNA SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:38651237C>G ENST00000494540.1 + 0 384 NR_003086.1 AACTAAATATCAAAGCACTTC 0.373000 26 54 0 0 0.006320 0 0 CDK8 1024 broad.mit.edu 37 13 26975692 26975692 + Silent SNP G G A rs138501276 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:26975692G>A ENST00000381527.3 + 12 1703 c.1200G>A c.(1198-1200)ccG>ccA p.P400P CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGGGACCCCCGTTGAAGAAAG 0.473000 7 47 0 0 0.004482 0 0 DCAF16 54876 broad.mit.edu 37 4 17805431 17805431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:17805431C>T ENST00000382247.1 - 3 1394 c.334G>A c.(334-336)Gaa>Aaa p.E112K DCAF16_ENST00000536863.1_Missense_Mutation_p.E112K NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 112 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 GGGGGCCATTCAGGAATTGGT 0.493000 64 55 0 0 0.014410 0 0 ZFP69B 65243 broad.mit.edu 37 1 40929123 40929123 + Silent SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:40929123C>G ENST00000411995.2 + 6 1842 c.1467C>G c.(1465-1467)tcC>tcG p.S489S ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.S387S NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B ATGATTCATCCTTTGCTAAAC 0.388000 4 47 0 0 0.009096 0 0 F10 2159 broad.mit.edu 37 13 113777199 113777199 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:113777199C>T ENST00000375559.3 + 1 68 c.30C>T c.(28-30)ctC>ctT p.L10L F10_ENST00000409306.1_Silent_p.L10L|F10_ENST00000483537.1_3'UTR|F10_ENST00000375551.3_Silent_p.L10L NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 10 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGTCCTGCTCAGTGCCTCCC 0.672000 12 25 0 0 0.002450 0 0 PCLO 27445 broad.mit.edu 37 7 82584860 82584860 + Silent SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:82584860A>G ENST00000423517.2 - 5 5746 c.5409T>C c.(5407-5409)tcT>tcC p.S1803S PCLO_ENST00000333891.8_Silent_p.S1803S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1734 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTTTTTACTAGAACTCTTTC 0.378000 60 81 0 0 0.014410 0 0 FBXO30 84085 broad.mit.edu 37 6 146126431 146126431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:146126431C>T ENST00000237281.4 - 2 1277 c.1111G>A c.(1111-1113)Gac>Aac p.D371N NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 371 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TCCCCTAAGTCTACTTTTTTC 0.388000 53 76 0 0 0.014410 0 0 MTHFD1 4522 broad.mit.edu 37 14 64891551 64891551 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:64891551G>T ENST00000555709.1 + 9 1144 c.757G>T c.(757-759)Gtg>Ttg p.V253L MTHFD1_ENST00000545908.1_Missense_Mutation_p.V309L|MTHFD1_ENST00000216605.7_Missense_Mutation_p.V309L|MTHFD1_ENST00000555252.1_Missense_Mutation_p.V233L|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 253 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GAGAAAAGTTGTGGGTGATGT 0.488000 4 38 1.23904e-05 1.48208e-05 0.000602 1 0 VEGFC 7424 broad.mit.edu 37 4 177605120 177605120 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:177605120C>T ENST00000280193.2 - 7 1635 c.1220G>A c.(1219-1221)cGt>cAt p.R407H RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 407 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AGGGACACAACGACACACTTC 0.418000 28 59 0 0 0.004656 0 0 PHF20 51230 broad.mit.edu 37 20 34505531 34505531 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:34505531G>A ENST00000374012.3 + 13 2080 c.1951G>A c.(1951-1953)Gag>Aag p.E651K PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) CTATGACTTCGAGGTGGTCCG 0.502000 21 52 0 0 0.014323 0 0 CLVS1 157807 broad.mit.edu 37 8 62212732 62212732 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:62212732C>T ENST00000519846.1 + 3 818 c.346C>T c.(346-348)Ccc>Tcc p.P116S CLVS1_ENST00000325897.4_Missense_Mutation_p.P116S|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 116 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GGCAGATGATCCCGGCATTAA 0.507000 21 60 0 0 0.008871 0 0 ZNF831 128611 broad.mit.edu 37 20 57769026 57769026 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:57769026G>T ENST00000371030.2 + 1 2952 c.2952G>T c.(2950-2952)ctG>ctT p.L984L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 984 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGTCAGGACTGGGGACCCCTC 0.632000 34 15 3.11337e-16 3.98461e-16 0.013726 1 0 CKM 1158 broad.mit.edu 37 19 45810135 45810135 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45810135T>C ENST00000221476.3 - 8 1193 c.1019A>G c.(1018-1020)gAt>gGt p.D340G NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 340 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GCCCAGCCGATCAGCGTTGGA 0.582000 57 116 0 0 0.014410 0 0 ABCG8 64241 broad.mit.edu 37 2 44099198 44099198 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:44099198C>T ENST00000272286.2 + 7 1138 c.1048C>T c.(1048-1050)Cta>Tta p.L350L NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 350 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGCCCTGTTTCTAGAAAAAGT 0.537000 48 72 0 0 0.014410 0 0 RFC2 5982 broad.mit.edu 37 7 73649972 73649972 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:73649972G>A ENST00000055077.3 - 10 904 c.844C>T c.(844-846)Ctt>Ttt p.L282F RFC2_ENST00000352131.3_Missense_Mutation_p.L248F NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 282 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 AAGTGAGCAAGAATCTAGACA 0.448000 37 64 0 0 0.003755 0 0 C20orf27 54976 broad.mit.edu 37 20 3739186 3739186 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:3739186G>C ENST00000379772.3 - 3 969 c.159C>G c.(157-159)gtC>gtG p.V53V C20orf27_ENST00000217195.8_Silent_p.V78V NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 53 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 CATGTACCTTGACCAGAAAGC 0.587000 7 142 0 0 0.001984 0 0 EXOC4 60412 broad.mit.edu 37 7 133689722 133689722 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:133689722G>T ENST00000253861.4 + 16 2435 c.2406G>T c.(2404-2406)gtG>gtT p.V802V EXOC4_ENST00000539845.1_Silent_p.V701V|EXOC4_ENST00000545148.1_Silent_p.V412V|EXOC4_ENST00000541309.1_Silent_p.V90V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 802 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) ATGCCATTGTGGCTAATGTGG 0.463000 7 99 2.0095e-06 2.41295e-06 0.001984 1 0 DHX16 8449 broad.mit.edu 37 6 30624230 30624230 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30624230G>T ENST00000376442.3 - 15 2563 c.2368C>A c.(2368-2370)Ctg>Atg p.L790M DHX16_ENST00000376437.5_Missense_Mutation_p.L309M NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 790 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 AAAGCCAGCAGCAGTGTCTCA 0.547000 11 51 0.000673444 0.000784424 0.008291 1 0 ABCF3 55324 broad.mit.edu 37 3 183907447 183907447 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:183907447C>T ENST00000429586.2 + 13 1401 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W ABCF3_ENST00000292808.5_Missense_Mutation_p.R400W|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 406 ABC transporter 1. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGATGGTTACCGGGGAGACTT 0.572000 20 41 0 0 0.010504 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 85 0 0 0.000602 0 0 KDM4C 23081 broad.mit.edu 37 9 6805612 6805612 + Translation_Start_Site SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:6805612A>T ENST00000536108.1 + 0 261 KDM4C_ENST00000381309.3_Missense_Mutation_p.K53M|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000401787.3_Missense_Mutation_p.K53M|KDM4C_ENST00000381306.3_Missense_Mutation_p.K53M|KDM4C_ENST00000535193.1_Missense_Mutation_p.K75M|KDM4C_ENST00000543771.1_Missense_Mutation_p.K53M|KDM4C_ENST00000489243.1_3'UTR Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 ATTCCTCCTAAGGAGTGGAAG 0.358000 19 4 0 0 0.008871 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763371 140763371 + Nonsense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:140763371C>A ENST00000518325.1 + 1 905 c.905C>A c.(904-906)tCa>tAa p.S302* PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATATCAACTTTAGAA 0.403000 19 36 7.07596e-05 8.39933e-05 0.006122 1 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 55 17 0 0 0.014410 0 0 TCF20 6942 broad.mit.edu 37 22 42606032 42606032 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:42606032G>A ENST00000359486.3 - 1 5416 c.5280C>T c.(5278-5280)tcC>tcT p.S1760S TCF20_ENST00000404876.1_Silent_p.S61S|TCF20_ENST00000335626.4_Silent_p.S1760S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1760 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TGTCCGTCTTGGAGCCATTAG 0.557000 42 88 0 0 0.007835 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368445 18368445 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:18368445C>T ENST00000392413.3 - 4 3864 c.3649G>A c.(3649-3651)Gac>Aac p.D1217N KIAA1683_ENST00000600359.2_Missense_Mutation_p.D984N|KIAA1683_ENST00000600328.2_Missense_Mutation_p.D1030N NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGCGATGGTCAGATACTGTC 0.657000 25 44 0 0 0.004656 0 0 CCDC88C 440193 broad.mit.edu 37 14 91787565 91787565 + Nonsense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:91787565G>A ENST00000389857.6 - 13 1512 c.1426C>T c.(1426-1428)Cag>Tag p.Q476* NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 476 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) ATGGTGCTCTGGAGGCTCTGA 0.587000 8 14 0 0 0.003080 0 0 RAB17 64284 broad.mit.edu 37 2 238483689 238483689 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:238483689C>T ENST00000264601.3 - 6 1241 c.612G>A c.(610-612)gcG>gcA p.A204A RAB17_ENST00000409822.1_Silent_p.A77A|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Silent_p.A77A NM_022449.3 NP_071894.1 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 204 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1) 4 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) TGGCCTGCCTCGCGGGCCCCT 0.642000 30 39 0 0 0.013726 0 0 RAG2 5897 broad.mit.edu 37 11 36614509 36614509 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:36614509C>T ENST00000311485.3 - 2 1371 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 404 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TCATCATCTTCATTATAGGTG 0.403000 Familial Hemophagocytic Lymphohistiocytosis 38 24 0 0 0.006230 0 0 KLHL23 151230 broad.mit.edu 37 2 170591601 170591601 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:170591601T>C ENST00000392647.2 + 2 321 c.77T>C c.(76-78)tTc>tCc p.F26S KLHL23_ENST00000272797.4_Missense_Mutation_p.F26S|KLHL23_ENST00000602521.1_Intron NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 26 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 CTGGATGCATTCAGAACATTT 0.363000 5 118 0 0 0.000602 0 0 OR7C2 26658 broad.mit.edu 37 19 15052714 15052714 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15052714C>A ENST00000248072.3 + 1 414 c.414C>A c.(412-414)ccC>ccA p.P138P NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) TCATGAACCCCCGGCTCTGTG 0.537000 64 115 2.89935e-36 3.86995e-36 0.014410 1 0 RFWD3 55159 broad.mit.edu 37 16 74695292 74695292 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:74695292T>A ENST00000361070.4 - 2 153 c.56A>T c.(55-57)cAa>cTa p.Q19L RFWD3_ENST00000571750.1_Missense_Mutation_p.Q19L NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 19 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 AGCTGGCTGTTGTTCGGCATG 0.483000 112 170 0 0 0.014410 0 0 PRR3 80742 broad.mit.edu 37 6 30530165 30530165 + Splice_Site SNP G G T rs79542230 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:30530165G>T ENST00000376560.3 + 4 919 c.e4-1 PRR3_ENST00000498336.1_Splice_Site|PRR3_ENST00000376557.3_Splice_Site NM_025263.3 NP_079539.2 P79522 PRR3_HUMAN proline rich 3 nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 CTTGTTCACAGACAAATCCGA 0.453000 77 199 7.63117e-38 1.02297e-37 0.014410 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580820 140580820 + Silent SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:140580820C>A ENST00000354757.3 + 1 1473 c.1473C>A c.(1471-1473)ctC>ctA p.L491L PCDHB11_ENST00000536699.1_Silent_p.L126L NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 491 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCTACTCCCGCCCCAGG 0.642000 85 117 1.32003e-40 1.78492e-40 0.014410 1 0 CLPTM1 1209 broad.mit.edu 37 19 45496120 45496120 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45496120C>T ENST00000541297.2 + 14 2398 c.1933C>T c.(1933-1935)Cct>Tct p.P645S CLPTM1_ENST00000337392.5_Missense_Mutation_p.P659S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.P557S O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 659 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCAGGAAGCCCCTCCAAAGCC 0.682000 20 33 0 0 0.008871 0 0 HELB 92797 broad.mit.edu 37 12 66725387 66725387 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:66725387G>C ENST00000247815.4 + 12 3183 c.3124G>C c.(3124-3126)Ggt>Cgt p.G1042R NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 1042 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAGAACCTGTGGTGTGAATGA 0.388000 5 160 0 0 0.003080 0 0 PIK3CB 5291 broad.mit.edu 37 3 138400825 138400825 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:138400825C>T ENST00000477593.1 - 18 2561 c.2488G>A c.(2488-2490)Gct>Act p.A830T PIK3CB_ENST00000289153.2_Missense_Mutation_p.A830T|PIK3CB_ENST00000544716.1_Missense_Mutation_p.A281T P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 830 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TCCAAACCAGCTTCTTTCCAG 0.363000 17 37 0 0 0.007413 0 0 E2F5 1875 broad.mit.edu 37 8 86121536 86121536 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:86121536C>G ENST00000418930.2 + 6 971 c.775C>G c.(775-777)Cca>Gca p.P259A E2F5_ENST00000521429.1_Missense_Mutation_p.P86A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.P260A|E2F5_ENST00000517476.1_Missense_Mutation_p.P98A|E2F5_ENST00000416274.2_Missense_Mutation_p.P259A Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 259 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 GTCCTTGACTCCAGTGACTCC 0.488000 5 94 0 0 0.001168 0 0 SLC37A1 54020 broad.mit.edu 37 21 43962541 43962541 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr21:43962541G>A ENST00000352133.2 + 7 1496 c.514G>A c.(514-516)Ggc>Agc p.G172S SLC37A1_ENST00000398341.3_Missense_Mutation_p.G172S P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 172 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GCAGACCACCGGCTGGCCCAG 0.577000 18 28 0 0 0.010504 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722876 94722876 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:94722876G>T ENST00000304338.3 + 17 2099 c.1945G>T c.(1945-1947)Gaa>Taa p.E649* NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 649 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TCAGCAGTTAGAAATGTGTGT 0.348000 5 26 0.000602214 0.000704093 0.000602 1 0 RSPH10B 222967 broad.mit.edu 37 7 5968017 5968017 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:5968017C>T ENST00000405415.1 - 19 2628 c.2242G>A c.(2242-2244)Gag>Aag p.E748K RSPH10B_ENST00000441023.2_Missense_Mutation_p.E748K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E748K|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E748K|RSPH10B_ENST00000535104.1_5'UTR B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) 748 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) TTGGGTCTCTCATATTTCTCT 0.443000 67 172 0 0 0.014410 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884134 24884134 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:24884134C>T ENST00000382554.3 + 9 3497 c.3179C>T c.(3178-3180)gCa>gTa p.A1060V NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1060 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGCCAGGGGCAGCTTCTCCC 0.647000 9 121 0 0 0.006214 0 0 ADCK3 56997 broad.mit.edu 37 1 227170663 227170663 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:227170663C>T ENST00000366779.1 + 13 3779 c.1008C>T c.(1006-1008)ttC>ttT p.F336F ADCK3_ENST00000366775.1_Silent_p.F181F|ADCK3_ENST00000366777.3_Silent_p.F336F|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366776.1_Silent_p.F261F|ADCK3_ENST00000458507.2_Silent_p.F57F|ADCK3_ENST00000366778.1_Silent_p.F284F Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 336 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 AGCGGCCCTTCGCCGCCGCAT 0.642000 3 5 0 0 0.000602 0 0 PSKH2 85481 broad.mit.edu 37 8 87076791 87076791 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:87076791G>T ENST00000276616.2 - 2 329 c.255C>A c.(253-255)acC>acA p.T85T PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 85 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) AAGGTTTCTTGGTGGTCTTCT 0.483000 28 109 8.58068e-18 1.11657e-17 0.007291 1 0 AHNAK2 113146 broad.mit.edu 37 14 105421961 105421961 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:105421961C>T ENST00000333244.5 - 5 444 c.325G>A c.(325-327)Gag>Aag p.E109K NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 109 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGTTGCCTCCTGGACAGCC 0.602000 30 48 0 0 0.010818 0 0 HECTD4 283450 broad.mit.edu 37 12 112665943 112665943 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:112665943C>T ENST00000550722.1 - 43 6761 c.6366G>A c.(6364-6366)ggG>ggA p.G2122G HECTD4_ENST00000377560.5_Silent_p.G2096G|HECTD4_ENST00000430131.2_Silent_p.G1846G NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CAGGAGCTGACCCATCTCCTG 0.517000 43 22 0 0 0.009718 0 0 CARD11 84433 broad.mit.edu 37 7 2962348 2962348 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:2962348G>A ENST00000396946.4 - 17 2592 c.2189C>T c.(2188-2190)aCa>aTa p.T730I NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 730 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTTGGTGCATGTGTCCAACGG 0.622000 Mis DLBCL 7 48 0 0 0.001984 0 0 SLC23A1 9963 broad.mit.edu 37 5 138707837 138707837 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:138707837A>G ENST00000353963.3 - 14 1705 c.1667T>C c.(1666-1668)aTa>aCa p.I556T SLC23A1_ENST00000348729.3_Missense_Mutation_p.I552T NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 552 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) TCTTTTTACTATGCCCATCCC 0.443000 43 47 0 0 0.011902 0 0 TP53 7157 broad.mit.edu 37 17 7576928 7576928 + Splice_Site SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:7576928T>C ENST00000420246.2 - 9 1052 c.e9-2 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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) TGGGCAGTGCTAGGAAAGAGG 0.493000 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) 46 45 0 0 0.009718 0 0 CYLC2 1539 broad.mit.edu 37 9 105767308 105767308 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:105767308C>G ENST00000374798.3 + 5 465 c.395C>G c.(394-396)tCa>tGa p.S132* CYLC2_ENST00000487798.1_Nonsense_Mutation_p.S132* NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 132 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) GATTCGGAATCAGAATTAaaa 0.318000 6 27 0 0 0.001168 0 0 OR10H5 284433 broad.mit.edu 37 19 15905429 15905429 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15905429G>A ENST00000308940.8 + 1 669 c.571G>A c.(571-573)Gat>Aat p.D191N NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 GGCCTGTGGAGATGATGTGCT 0.572000 6 86 0 0 0.001168 0 0 RIN2 54453 broad.mit.edu 37 20 19937366 19937366 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:19937366G>A ENST00000255006.6 + 4 562 c.413G>A c.(412-414)cGg>cAg p.R138Q RIN2_ENST00000440354.2_Missense_Mutation_p.R89Q|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 89 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 ATCTTGGACCGGCTCCTCCAC 0.607000 4 29 0 0 0.000602 0 0 PANK3 79646 broad.mit.edu 37 5 167991072 167991072 + Splice_Site SNP T T G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:167991072T>G ENST00000239231.6 - 4 952 c.e4-2 PANK3_ENST00000520504.1_Intron NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) CCTCCAAGGCTAAAGAAAATA 0.363000 44 219 0 0 0.009718 0 0 RADIL 55698 broad.mit.edu 37 7 4917456 4917456 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:4917456C>T ENST00000399583.3 - 2 502 c.315G>A c.(313-315)agG>agA p.R105R RADIL_ENST00000536091.1_Silent_p.R105R NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 105 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGCCGGCCTGCCTGGGGTCCA 0.682000 38 74 0 0 0.005524 0 0 ACSL5 51703 broad.mit.edu 37 10 114171725 114171725 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:114171725G>C ENST00000393081.1 + 11 1243 c.936G>C c.(934-936)gaG>gaC p.E312D ACSL5_ENST00000356116.1_Missense_Mutation_p.E368D|ACSL5_ENST00000354655.4_Missense_Mutation_p.E312D|ACSL5_ENST00000369410.3_Missense_Mutation_p.E94D|ACSL5_ENST00000433418.1_Missense_Mutation_p.E312D|ACSL5_ENST00000354273.4_Missense_Mutation_p.E312D NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 312 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATATGTTTGAGAGGATTGTAC 0.478000 7 139 0 0 0.001984 0 0 FAM92A1 137392 broad.mit.edu 37 8 94713483 94713483 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:94713483G>T ENST00000518322.1 + 2 199 c.58G>T c.(58-60)Gtc>Ttc p.V20F FAM92A1_ENST00000522324.1_Missense_Mutation_p.V20F|FAM92A1_ENST00000423990.2_Missense_Mutation_p.V20F NM_145269.3 NP_660312.2 A1XBS5 F92A1_HUMAN family with sequence similarity 92, member A1 20 NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1) 7 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) GCAAACAGCTGTCTCAAATGT 0.453000 10 41 2.80697e-09 3.42341e-09 0.010729 1 0 ZNF846 162993 broad.mit.edu 37 19 9868519 9868519 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:9868519G>T ENST00000397902.2 - 6 1647 c.1234C>A c.(1234-1236)Cat>Aat p.H412N ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 ATCCTTACATGTTGACTAAGC 0.403000 28 52 4.22769e-11 5.2383e-11 0.006320 1 0 FLG 2312 broad.mit.edu 37 1 152276850 152276850 + Silent SNP C C T rs139345866 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:152276850C>T ENST00000368799.1 - 3 10547 c.10512G>A c.(10510-10512)tcG>tcA p.S3504S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3504 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGTGATGCGACCATGAGT 0.577000 Ichthyosis 138 227 0 0 0.014410 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315302 22315302 + RNA SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:22315302C>T ENST00000390434.3 + 0 465 AAGGCATCAACGGTTTTGAGG 0.498000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 104 0 0 0.014410 0 0 GDF3 9573 broad.mit.edu 37 12 7842556 7842556 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:7842556G>A ENST00000329913.3 - 2 1060 c.1013C>T c.(1012-1014)tCc>tTc p.S338F NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 338 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GTAGAGCATGGAAATGGGAGA 0.478000 30 59 0 0 0.006320 0 0 MYH11 4629 broad.mit.edu 37 16 15797863 15797863 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:15797863G>A ENST00000396324.3 - 42 6012 c.5925C>T c.(5923-5925)acC>acT p.T1975T NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_5'UTR|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_3'UTR|MYH11_ENST00000452625.2_3'UTR|MYH11_ENST00000300036.5_Silent_p.T1968T|MYH11_ENST00000338282.6_3'UTR NM_001040114.1 NP_001035203.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1968 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CACTGGCCTTGGTTCCATTGA 0.428000 T CBFB AML 111 153 0 0 0.014410 0 0 FAM111B 374393 broad.mit.edu 37 11 58892341 58892341 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:58892341T>A ENST00000343597.3 + 4 962 c.771T>A c.(769-771)gaT>gaA p.D257E FAM111B_ENST00000529618.1_Missense_Mutation_p.D227E|FAM111B_ENST00000411426.1_Missense_Mutation_p.D227E NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 257 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 CCATGGTGGATGAAGTATCTG 0.343000 4 31 0 0 0.009096 0 0 IRF3 3661 broad.mit.edu 37 19 50162899 50162899 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:50162899G>A ENST00000600911.1 - 6 1566 c.1174C>T c.(1174-1176)Cgc>Tgc p.R392C IRF3_ENST00000593922.1_3'UTR|IRF3_ENST00000599223.1_3'UTR|IRF3_ENST00000596822.1_Missense_Mutation_p.R119C|IRF3_ENST00000599144.1_3'UTR|IRF3_ENST00000309877.7_3'UTR|IRF3_ENST00000377139.3_3'UTR|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596765.1_3'UTR|IRF3_ENST00000598808.1_3'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R436C|IRF3_ENST00000597198.1_3'UTR|IRF3_ENST00000600022.1_3'UTR Q14653 IRF3_HUMAN interferon regulatory factor 3 0 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CATGAGGAGCGAGGGCTCAGC 0.602000 6 16 0 0 0.001168 0 0 EIF3E 3646 broad.mit.edu 37 8 109252300 109252300 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:109252300C>G ENST00000220849.5 - 3 272 c.210G>C c.(208-210)ttG>ttC p.L70F EIF3E_ENST00000519030.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 70 Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) TTTTCTCTCTCAAAGCTAATT 0.358000 30 126 0 0 0.012213 0 0 MYC 4609 broad.mit.edu 37 8 128753051 128753051 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:128753051G>C ENST00000377970.2 + 3 1722 c.1212G>C c.(1210-1212)aaG>aaC p.K404N MYC_ENST00000524013.1_Missense_Mutation_p.K403N NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 389 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ACAATGAAAAGGCCCCCAAGG 0.502000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 64 305 0 0 0.014410 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626706 108626706 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:108626706G>A ENST00000264047.2 + 9 1408 c.1132G>A c.(1132-1134)Gtt>Att p.V378I SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 378 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.V378I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CAAAGAAATCGTTTGGGTTAT 0.443000 42 60 0 0 0.009718 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801843 185801843 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:185801843G>T ENST00000302277.6 + 4 2314 c.1720G>T c.(1720-1722)Gat>Tat p.D574Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 574 intracellular zinc ion binding p.D574Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGACACTCTAGATGAAAAATA 0.299000 20 42 3.62473e-10 4.47338e-10 0.012319 1 0 BTN3A3 10384 broad.mit.edu 37 6 26452390 26452390 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:26452390G>T ENST00000244519.2 + 11 1749 c.1506G>T c.(1504-1506)ttG>ttT p.L502F BTN3A3_ENST00000361232.3_Missense_Mutation_p.L453F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.L460F NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 502 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TCAGAATTTTGACCTTGGAGC 0.488000 43 123 7.53189e-24 9.9255e-24 0.007835 1 0 PREX2 80243 broad.mit.edu 37 8 68934274 68934274 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:68934274G>A ENST00000288368.4 + 4 617 c.340G>A c.(340-342)Gac>Aac p.D114N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 114 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCACAGAAAGACAAGTTTCG 0.299000 19 29 0 0 0.008871 0 0 HTR5A 3361 broad.mit.edu 37 7 154862903 154862903 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:154862903G>A ENST00000287907.2 + 1 870 c.294G>A c.(292-294)ctG>ctA p.L98L AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.T37T|AC093726.4_ENST00000395731.2_Silent_p.T37T NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 98 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGCTGAGCCTGGTGCACGAGC 0.672000 8 31 0 0 0.006214 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327892 88327892 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:88327892C>T ENST00000325089.6 + 2 468 c.249C>T c.(247-249)atC>atT p.I83I SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 83 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTTTCCCAATCTACCACCTCT 0.453000 84 138 0 0 0.014410 0 0 PDLIM5 10611 broad.mit.edu 37 4 95376534 95376534 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:95376534G>A ENST00000512274.1 + 2 213 c.95G>A c.(94-96)aGt>aAt p.S32N PDLIM5_ENST00000359265.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000508216.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000504489.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000450793.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000318007.5_Splice_Site_p.S32_splice|PDLIM5_ENST00000317968.4_Splice_Site_p.S32_splice|PDLIM5_ENST00000437932.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000514743.1_Splice_Site_p.S32_splice|PDLIM5_ENST00000380180.3_Splice_Site_p.S32_splice|PDLIM5_ENST00000538141.1_Splice_Site_p.S32_splice Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 32 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) ACAATCTCTAGTGTAAGTAAA 0.428000 15 11 0 0 0.004007 0 0 KLHL28 54813 broad.mit.edu 37 14 45414307 45414307 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:45414307C>T ENST00000396128.4 - 2 944 c.825G>A c.(823-825)atG>atA p.M275I KLHL28_ENST00000355081.2_Missense_Mutation_p.M289I NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 275 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GAGGTCGTGTCATCAAGACTG 0.418000 50 65 0 0 0.014410 0 0 SNX27 81609 broad.mit.edu 37 1 151640992 151640992 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:151640992C>T ENST00000368843.3 + 7 1150 c.1030C>T c.(1030-1032)Cag>Tag p.Q344* SNX27_ENST00000458013.2_Nonsense_Mutation_p.Q344*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.Q251*|SNX27_ENST00000482791.1_3'UTR NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 344 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) ACTCTACATTCAGAATTATAC 0.383000 30 92 0 0 0.006320 0 0 FARP2 9855 broad.mit.edu 37 2 242380775 242380775 + Silent SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:242380775C>G ENST00000264042.3 + 13 1385 c.1215C>G c.(1213-1215)gcC>gcG p.A405A FARP2_ENST00000545004.1_Silent_p.A405A|FARP2_ENST00000373287.4_Silent_p.A405A NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 405 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CAGCGAATGCCTTTTACTCGC 0.502000 27 56 0 0 0.007291 0 0 EDEM1 9695 broad.mit.edu 37 3 5246816 5246816 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:5246816G>A ENST00000256497.4 + 6 1240 c.1107G>A c.(1105-1107)ctG>ctA p.L369L EDEM1_ENST00000445686.1_Silent_p.L174L NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 369 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GTGCCGGGCTGGACTCCTTCT 0.453000 62 29 0 0 0.014410 0 0 TPR 7175 broad.mit.edu 37 1 186321170 186321170 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:186321170C>G ENST00000367478.3 - 19 2703 c.2407G>C c.(2407-2409)Gag>Cag p.E803Q TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 803 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AACAAAGACTCTCTTTGCTGA 0.318000 T NTRK1 papillary thyroid 19 100 0 0 0.012319 0 0 KIF3A 11127 broad.mit.edu 37 5 132052070 132052070 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:132052070T>C ENST00000378746.4 - 7 1039 c.821A>G c.(820-822)aAt>aGt p.N274S KIF3A_ENST00000378735.1_Missense_Mutation_p.N274S|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.N274S NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 274 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGTGAAAGATTGATTTTTGT 0.398000 3 80 0 0 0.004672 0 0 OC90 729330 broad.mit.edu 37 8 133036916 133036916 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:133036916G>A ENST00000262283.5 - 18 1981 c.1882C>T c.(1882-1884)Ctc>Ttc p.L628F OC90_ENST00000603859.1_Missense_Mutation_p.L416F|OC90_ENST00000254627.3_Missense_Mutation_p.L416F|OC90_ENST00000443356.2_Missense_Mutation_p.L432F Q02509 OC90_HUMAN otoconin 90 432 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGGCACCCGAGTCTGCTTGGG 0.627000 10 36 0 0 0.006214 0 0 PTPN3 5774 broad.mit.edu 37 9 112168829 112168829 + Missense_Mutation SNP C C G rs59324117 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:112168829C>G ENST00000412145.1 - 13 3865 c.1312G>C c.(1312-1314)Gaa>Caa p.E438Q PTPN3_ENST00000446349.1_Missense_Mutation_p.E393Q|PTPN3_ENST00000374541.2_Missense_Mutation_p.E569Q|PTPN3_ENST00000394827.3_Missense_Mutation_p.E37Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.E415Q NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 569 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGCGTGTGTTCTGAGATGTCC 0.557000 87 134 0 0 0.014410 0 0 MYCBP2 23077 broad.mit.edu 37 13 77671556 77671556 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:77671556C>G ENST00000407578.2 - 56 9999 c.9733G>C c.(9733-9735)Ggg>Cgg p.G3245R MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3207R|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3207R NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGTGACTCCCCACACAGTTCA 0.448000 14 29 0 0 0.004990 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44365306 44365306 + Silent SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:44365306T>A ENST00000262915.3 + 10 1035 c.858T>A c.(856-858)ccT>ccA p.P286P ST3GAL3_ENST00000347631.2_Silent_p.P232P|ST3GAL3_ENST00000372375.2_Silent_p.P271P|ST3GAL3_ENST00000372368.2_Silent_p.P271P|ST3GAL3_ENST00000353126.3_Silent_p.P217P|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372372.2_Silent_p.P255P|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Silent_p.P201P|ST3GAL3_ENST00000361392.4_Silent_p.P217P|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000351035.3_Silent_p.P255P|ST3GAL3_ENST00000372374.2_Silent_p.P186P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Silent_p.P217P|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000531993.1_Silent_p.P201P|ST3GAL3_ENST00000361746.4_Silent_p.P286P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P217P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P186P NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 217 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) TGCAGCGGCCTGAGCAGTACG 0.537000 42 54 0 0 0.010771 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999130 92999130 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:92999130C>A ENST00000523629.1 - 8 1516 c.1062G>T c.(1060-1062)tgG>tgT p.W354C RUNX1T1_ENST00000396218.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.W327C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.W354C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.W317C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.W317C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.W365C NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 354 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAAGATGTTTCCACTCTTCTG 0.378000 6 215 0.00116845 0.00135592 0.001168 1 0 ITGAE 3682 broad.mit.edu 37 17 3631298 3631298 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:3631298C>T ENST00000263087.4 - 26 3097 c.2999G>A c.(2998-3000)gGa>gAa p.G1000E ITGAE_ENST00000571185.1_5'UTR NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 1000 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GTATTCTGCTCCAAAGAGGTT 0.418000 36 42 0 0 0.004878 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375182 113375182 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:113375182G>A ENST00000316407.4 - 7 5757 c.5347C>T c.(5347-5349)Ccc>Tcc p.P1783S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1783S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1783 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATTGGTGGGGGGCCAGTGTTT 0.418000 99 260 0 0 0.014410 0 0 HTR1B 3351 broad.mit.edu 37 6 78172918 78172918 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:78172918G>A ENST00000369947.2 - 1 572 c.203C>T c.(202-204)gCc>gTc p.A68V NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 68 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) AATCACAAAGGCATTGGAGAG 0.562000 74 121 0 0 0.014410 0 0 OR1C1 26188 broad.mit.edu 37 1 247921171 247921171 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:247921171C>G ENST00000408896.2 - 1 811 c.538G>C c.(538-540)Gat>Cat p.D180H NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGATTGAGATCACAGAAGAAA 0.483000 17 29 0 0 0.006122 0 0 KIF3C 3797 broad.mit.edu 37 2 26203809 26203809 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:26203809G>C ENST00000264712.3 - 1 1557 c.978C>G c.(976-978)ctC>ctG p.L326L KIF3C_ENST00000405914.1_Silent_p.L326L NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 326 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGTCCTGGAGCAGCCGGG 0.607000 22 46 0 0 0.003954 0 0 APC 324 broad.mit.edu 37 5 112175991 112175991 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:112175991C>G ENST00000457016.1 + 16 5080 c.4700C>G c.(4699-4701)tCa>tGa p.S1567* CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1567*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1567* P25054 APC_HUMAN adenomatous polyposis coli 1567 Asp/Glu-rich (acidic).|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTAGATGATTCAGATGATGAT 0.358000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 32 16 0 0 0.013726 0 0 SLC5A5 6528 broad.mit.edu 37 19 17988641 17988641 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:17988641G>A ENST00000222248.3 + 6 1155 c.808G>A c.(808-810)Gtg>Atg p.V270M NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 270 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GCAGCGCTACGTGGCTTGCCG 0.607000 45 67 0 0 0.014410 0 0 RAB26 25837 broad.mit.edu 37 16 2203334 2203334 + Missense_Mutation SNP G G A rs149402189 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:2203334G>A ENST00000210187.6 + 9 843 c.683G>A c.(682-684)cGc>cAc p.R228H RAB26_ENST00000541451.1_Missense_Mutation_p.R162H NM_014353.4 NP_055168.2 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 228 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding kidney(1)|large_intestine(1)|lung(3) 5 TTGAAGCAGCGCTCCATGAAG 0.642000 26 48 0 0 0.009535 0 0 TLX1 3195 broad.mit.edu 37 10 102891411 102891411 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:102891411C>G ENST00000370196.6 + 1 2155 c.113C>G c.(112-114)tCg>tGg p.S38W TLX1_ENST00000467928.2_Missense_Mutation_p.S38W P31314 TLX1_HUMAN T-cell leukemia homeobox 1 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGACCCGCCTCGCGCCTCCAG 0.706000 T """TRB@, TRD@""" T-ALL 8 15 0 0 0.006214 0 0 GAN 8139 broad.mit.edu 37 16 81399047 81399047 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:81399047C>T ENST00000248272.3 + 9 1628 c.1466C>T c.(1465-1467)aCt>aTt p.T489I GAN_ENST00000567335.1_3'UTR NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 489 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GAGATGGTAACTTGCAAGTCC 0.468000 93 96 0 0 0.014410 0 0 MRPS22 56945 broad.mit.edu 37 3 139069822 139069822 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:139069822A>G ENST00000495075.1 + 7 1084 c.652A>G c.(652-654)Atg>Gtg p.M218V MRPS22_ENST00000465056.1_Missense_Mutation_p.M217V|MRPS22_ENST00000478464.1_Missense_Mutation_p.M177V|MRPS22_ENST00000310776.4_Missense_Mutation_p.M218V P82650 RT22_HUMAN mitochondrial ribosomal protein S22 218 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GTTTTAGACTATGTATAGCCA 0.468000 29 86 0 0 0.008361 0 0 MACF1 23499 broad.mit.edu 37 1 39951383 39951383 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:39951383G>A ENST00000564288.1 + 101 23362 c.22585G>A c.(22585-22587)Ggg>Agg p.G7529R MACF1_ENST00000545844.1_Missense_Mutation_p.G5404R|MACF1_ENST00000289893.4_Missense_Mutation_p.G5912R|MACF1_ENST00000539005.1_Missense_Mutation_p.G5274R|MACF1_ENST00000567887.1_Missense_Mutation_p.G7566R|MACF1_ENST00000372915.3_Missense_Mutation_p.G7362R|MACF1_ENST00000317713.7_Missense_Mutation_p.G5404R|MACF1_ENST00000361689.2_Missense_Mutation_p.G5404R Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7362 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCCAGGAGAGGGCTAAACAA 0.542000 6 129 0 0 0.001984 0 0 MCM10 55388 broad.mit.edu 37 10 13240697 13240697 + Nonsense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:13240697G>T ENST00000378694.1 + 15 2203 c.2128G>T c.(2128-2130)Gaa>Taa p.E710* MCM10_ENST00000484800.2_Nonsense_Mutation_p.E711*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.E710* Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 711 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGCTGAGGATGAATTGGAGCC 0.458000 45 61 8.94452e-30 1.18372e-29 0.014410 1 0 TCF21 6943 broad.mit.edu 37 6 134210616 134210616 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:134210616G>A ENST00000367882.4 + 1 341 c.81G>A c.(79-81)tcG>tcA p.S27S RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.S27S NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 27 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AAATGGATTCGAACAAGGAAT 0.577000 44 57 0 0 0.009718 0 0 DALRD3 55152 broad.mit.edu 37 3 49053902 49053902 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:49053902G>A ENST00000440857.1 - 9 1307 c.605C>T c.(604-606)aCc>aTc p.T202I DALRD3_ENST00000441576.2_Missense_Mutation_p.T369I|DALRD3_ENST00000341949.4_Missense_Mutation_p.T369I|DALRD3_ENST00000395462.4_Missense_Mutation_p.T202I|DALRD3_ENST00000313778.5_Missense_Mutation_p.T202I Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 369 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAACTTGATGGTGGCCACAGA 0.577000 22 8 0 0 0.002780 0 0 SUN5 140732 broad.mit.edu 37 20 31587898 31587898 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:31587898G>C ENST00000356173.3 - 5 414 c.322C>G c.(322-324)Ctg>Gtg p.L108V SUN5_ENST00000375519.2_Missense_Mutation_p.F85L|SUN5_ENST00000375523.3_Missense_Mutation_p.L83V NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 108 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CAGAGGAGCAGAATGCCTGTC 0.587000 13 71 0 0 0.002450 0 0 IL22 50616 broad.mit.edu 37 12 68645319 68645319 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:68645319G>T ENST00000538666.1 - 5 506 c.436C>A c.(436-438)Caa>Aaa p.Q146K IL22_ENST00000328087.4_Missense_Mutation_p.Q146K Q9GZX6 IL22_HUMAN interleukin 22 146 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) TTCAGCTTTTGCACATTCCTC 0.363000 23 134 3.73808e-20 4.90525e-20 0.005443 1 0 NPIPA5 100288332 broad.mit.edu 37 16 15457778 15457778 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:15457778T>C ENST00000360151.4 - 8 790 c.791A>G c.(790-792)aAg>aGg p.K264R NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GGAAGGTGTCTTGAGGCTCAG 0.522000 14 181 0 0 0.002450 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212041 26212041 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:26212041G>C ENST00000379034.1 + 2 227 c.78G>C c.(76-78)acG>acC p.T26T NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 26 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGGGTCTCACGGGTCCCCAGG 0.572000 30 16 0 0 0.008361 0 0 PIGG 54872 broad.mit.edu 37 4 499519 499519 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:499519G>A ENST00000453061.2 + 3 479 c.373G>A c.(373-375)Ggg>Agg p.G125R PIGG_ENST00000310340.5_Missense_Mutation_p.G125R|PIGG_ENST00000509768.1_Missense_Mutation_p.G36R|PIGG_ENST00000503111.1_Missense_Mutation_p.G36R|PIGG_ENST00000536264.1_Missense_Mutation_p.G3R|PIGG_ENST00000296306.7_Missense_Mutation_p.G36R|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.G36R NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 125 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 ATTGATGACGGGGAGCCTTCC 0.438000 3 50 0 0 0.004672 0 0 GRIP2 80852 broad.mit.edu 37 3 14565164 14565164 + RNA SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:14565164C>T ENST00000273083.3 - 0 510 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TAGAGGGAGACGTCCACTGTC 0.498000 7 3 0 0 0.003080 0 0 NLRP14 338323 broad.mit.edu 37 11 7063670 7063670 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:7063670G>T ENST00000299481.4 + 4 759 c.413G>T c.(412-414)tGg>tTg p.W138L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 138 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGCATCACTTGGGACAAGAAG 0.363000 30 16 1.39806e-14 1.77467e-14 0.008361 1 0 ACSL5 51703 broad.mit.edu 37 10 114158684 114158684 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:114158684A>G ENST00000393081.1 + 3 489 c.182A>G c.(181-183)cAg>cGg p.Q61R ACSL5_ENST00000356116.1_Missense_Mutation_p.Q117R|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.Q61R|ACSL5_ENST00000433418.1_Missense_Mutation_p.Q61R|ACSL5_ENST00000354273.4_Missense_Mutation_p.Q61R NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 61 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGGGTTTCCCAGAAGAACAAT 0.463000 55 73 0 0 0.014410 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384617 62384617 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:62384617G>A ENST00000531383.1 - 3 666 c.460C>T c.(460-462)Cat>Tat p.H154Y B3GAT3_ENST00000265471.5_Missense_Mutation_p.H154Y|B3GAT3_ENST00000534026.1_Missense_Mutation_p.H154Y O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 154 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CCACGGGGATGAACCCAGCCA 0.687000 33 46 0 0 0.003755 0 0 AOAH 313 broad.mit.edu 37 7 36633994 36633994 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:36633994C>G ENST00000431169.1 - 12 1189 c.889G>C c.(889-891)Gac>Cac p.D297H AOAH_ENST00000538464.1_Missense_Mutation_p.D19H|AOAH_ENST00000535891.1_Missense_Mutation_p.D265H|AOAH_ENST00000258749.5_Missense_Mutation_p.D297H NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 297 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGGGGCCAGTCAAGCTCGTTG 0.408000 31 79 0 0 0.012213 0 0 ZNF507 22847 broad.mit.edu 37 19 32844322 32844322 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:32844322C>T ENST00000311921.3 + 2 778 c.586C>T c.(586-588)Ccc>Tcc p.P196S ZNF507_ENST00000355898.5_Missense_Mutation_p.P196S|ZNF507_ENST00000544431.1_Missense_Mutation_p.P196S|ZNF507_ENST00000587084.1_3'UTR NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GTGCGTAAGCCCCTCCAGCTC 0.468000 37 49 0 0 0.005524 0 0 XKR4 114786 broad.mit.edu 37 8 56270346 56270346 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:56270346G>T ENST00000327381.5 + 2 1015 c.915G>T c.(913-915)ctG>ctT p.L305L NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 305 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TGAGTATGCTGCATTTGCTAG 0.473000 43 37 2.19962e-31 2.92343e-31 0.008740 1 0 LAMB3 3914 broad.mit.edu 37 1 209796421 209796421 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:209796421A>C ENST00000391911.1 - 16 2851 c.2462T>G c.(2461-2463)gTc>gGc p.V821G LAMB3_ENST00000367030.3_Missense_Mutation_p.V821G|LAMB3_ENST00000356082.4_Missense_Mutation_p.V821G NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 821 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCTGGGAAGGACACCCCTGCA 0.632000 44 60 0 0 0.011902 0 0 BSX 390259 broad.mit.edu 37 11 122850009 122850009 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:122850009C>T ENST00000343035.2 - 2 467 c.419G>A c.(418-420)cGa>cAa p.R140Q NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 140 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CAGCTCCACTCGTTCTGGCGT 0.637000 42 97 0 0 0.010771 0 0 NRK 203447 broad.mit.edu 37 X 105179222 105179222 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:105179222T>C ENST00000428173.2 + 21 3866 c.3563T>C c.(3562-3564)gTt>gCt p.V1188A NRK_ENST00000243300.9_Missense_Mutation_p.V1187A Q7Z2Y5 NRK_HUMAN Nik related kinase 1187 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAAGTCAATGTTAACCCACTC 0.418000 HNSCC(51;0.14) 61 26 0 0 0.014410 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 138 0 0 0.004672 0 0 CCT5 22948 broad.mit.edu 37 5 10256236 10256236 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:10256236G>A ENST00000280326.4 + 4 921 c.501G>A c.(499-501)caG>caA p.Q167Q CCT5_ENST00000503026.1_Silent_p.Q146Q|CCT5_ENST00000506600.1_Silent_p.Q74Q|CCT5_ENST00000515676.1_Silent_p.Q129Q|CCT5_ENST00000515390.1_Silent_p.Q112Q NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 167 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 CCCTGATTCAGACAGCAAAAA 0.468000 22 26 0 0 0.012319 0 0 KIAA1614 57710 broad.mit.edu 37 1 180910242 180910242 + Missense_Mutation SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:180910242A>G ENST00000367588.4 + 7 3035 c.2980A>G c.(2980-2982)Aag>Gag p.K994E KIAA1614_ENST00000367587.1_Missense_Mutation_p.K615E NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 994 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGACCAGAACAAGAAAAGGAG 0.642000 6 47 0 0 0.001984 0 0 CLCA1 1179 broad.mit.edu 37 1 86961316 86961316 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:86961316C>T ENST00000234701.3 + 13 2422 c.2071C>T c.(2071-2073)Cag>Tag p.Q691* CLCA1_ENST00000394711.1_Nonsense_Mutation_p.Q691* A8K7I4 CLCA1_HUMAN chloride channel accessory 1 691 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AGTGATACCCCAGCAGAGTGG 0.448000 21 7 0 0 0.014323 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75552076 75552076 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:75552076T>A ENST00000604729.1 + 10 2076 c.1779T>A c.(1777-1779)agT>agA p.S593R ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S593R|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S593R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S593R|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S593R zinc finger, SWIM-type containing 8 GGGCTGGCAGTGGGAGCAAGG 0.642000 13 17 0 0 0.002450 0 0 CDK11B 984 broad.mit.edu 37 1 1586834 1586834 + Silent SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:1586834A>T ENST00000407249.3 - 2 215 c.216T>A c.(214-216)tcT>tcA p.S72S CDK11B_ENST00000317673.7_Silent_p.S72S|CDK11B_ENST00000340677.5_Silent_p.S72S|CDK11B_ENST00000341832.6_Silent_p.S38S P21127 CD11B_HUMAN cyclin-dependent kinase 11B 72 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TGTCTTCCATAGAGTCTTCTC 0.547000 4 28 0 0 0.000602 0 0 AATF 26574 broad.mit.edu 37 17 35306512 35306512 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:35306512G>A ENST00000225402.5 + 1 338 c.87G>A c.(85-87)gaG>gaA p.E29E NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 29 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) CGGACCCCGAGGAAGGTGAGG 0.746000 3 6 0 0 0.004672 0 0 KRT76 51350 broad.mit.edu 37 12 53164843 53164843 + Missense_Mutation SNP T T G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:53164843T>G ENST00000332411.2 - 7 1477 c.1424A>C c.(1423-1425)aAg>aCg p.K475T NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 475 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGGGCCAGCTTGACGTTCAT 0.572000 9 116 0 0 0.008291 0 0 NOTCH3 4854 broad.mit.edu 37 19 15288423 15288423 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15288423T>C ENST00000263388.2 - 24 4391 c.4316A>G c.(4315-4317)aAc>aGc p.N1439S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1439 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCAGCGGCTGTTGTTGAAGAG 0.701000 7 2 0 0 0.001984 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883456 64883456 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:64883456G>A ENST00000279263.7 + 10 1350 c.1188G>A c.(1186-1188)caG>caA p.Q396Q TM7SF2_ENST00000540748.1_Silent_p.Q280Q|TM7SF2_ENST00000345348.5_Silent_p.Q369Q NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 396 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGTGCCTGCAGAAGTACGGCC 0.632000 21 32 0 0 0.012319 0 0 TLR1 7096 broad.mit.edu 37 4 38798908 38798908 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:38798908C>A ENST00000308979.2 - 4 1818 c.1545G>T c.(1543-1545)aaG>aaT p.K515N TLR1_ENST00000502213.2_Missense_Mutation_p.K515N NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 515 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TTGACCTCATCTTCTGGCAGC 0.433000 121 37 1.50762e-44 2.05645e-44 0.014410 1 0 OBSCN 84033 broad.mit.edu 37 1 228492963 228492963 + Silent SNP A A G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:228492963A>G ENST00000570156.2 + 54 14480 c.14406A>G c.(14404-14406)agA>agG p.R4802R OBSCN_ENST00000366707.4_Silent_p.R1479R|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3845 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATGGGGACAGATACAACCTGA 0.567000 59 89 0 0 0.014410 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514345 15514345 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:15514345C>T ENST00000397410.4 - 4 367 c.303G>A c.(301-303)atG>atA p.M101I AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 101 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 AATGCGGCACCATATCTAAGC 0.537000 65 101 0 0 0.014410 0 0 DVL3 1857 broad.mit.edu 37 3 183885748 183885748 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:183885748C>T ENST00000313143.3 + 13 1641 c.1393C>T c.(1393-1395)Cgc>Tgc p.R465C DVL3_ENST00000431765.1_Missense_Mutation_p.R448C|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 465 DEP. R -> P (in Ref. 1; AAB47447). canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GAGGGAGGCCCGCAAGTATGC 0.577000 41 117 0 0 0.006230 0 0 MDM1 56890 broad.mit.edu 37 12 68719244 68719244 + Missense_Mutation SNP C C A rs138314442 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:68719244C>A ENST00000303145.7 - 4 696 c.610G>T c.(610-612)Gct>Tct p.A204S MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 204 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AAAGCTGGAGCAGTTTCTTTA 0.348000 103 380 2.98183e-41 4.04956e-41 0.014410 1 0 CAMTA1 23261 broad.mit.edu 37 1 7798213 7798213 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:7798213G>A ENST00000303635.7 + 16 4060 c.3853G>A c.(3853-3855)Gag>Aag p.E1285K CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1285K NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTCTGTCCCCGAGACACTCAG 0.552000 T WWTR1 epitheliod hemangioendothelioma 23 14 0 0 0.014323 0 0 RNFT1 51136 broad.mit.edu 37 17 58042024 58042024 + Translation_Start_Site SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:58042024T>C ENST00000305783.8 - 1 56 c.1A>G c.(1-3)Atg>Gtg p.M1V RNFT1_ENST00000442346.2_5'UTR|RP11-178C3.1_ENST00000591035.1_Intron NM_016125.3 NP_057209.3 Q5M7Z0 RNFT1_HUMAN ring finger protein, transmembrane 1 1 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) AACAGCGGCATACACCGCCTC 0.701000 6 9 0 0 0.001984 0 0 RAB1B 81876 broad.mit.edu 37 11 66039643 66039643 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:66039643G>C ENST00000311481.6 + 3 250 c.103G>C c.(103-105)Gag>Cag p.E35Q RAB1B_ENST00000527397.1_Missense_Mutation_p.E35Q|RP11-867G23.3_ENST00000501708.1_lincRNA NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 35 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 CACGTACACAGAGAGCTACAT 0.527000 74 150 0 0 0.014410 0 0 OR11L1 391189 broad.mit.edu 37 1 248005020 248005020 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:248005020T>A ENST00000355784.2 - 1 234 c.179A>T c.(178-180)tAc>tTc p.Y60F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGGAACATGTACATAGGGGA 0.547000 12 21 0 0 0.013537 0 0 MYH14 79784 broad.mit.edu 37 19 50713685 50713685 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:50713685C>T ENST00000440075.2 + 2 110 c.63C>T c.(61-63)ccC>ccT p.P21P MYH14_ENST00000598205.1_Silent_p.P21P|MYH14_ENST00000376970.2_Silent_p.P21P|MYH14_ENST00000601313.1_Silent_p.P21P|MYH14_ENST00000425460.1_Silent_p.P21P|MYH14_ENST00000596571.1_Silent_p.P21P|MYH14_ENST00000262269.8_Silent_p.P21P Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 21 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCCCAGTGCCCGAGGCGGCCC 0.756000 5 1 0 0 0.000602 0 0 CCDC151 115948 broad.mit.edu 37 19 11537725 11537725 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:11537725C>G ENST00000356392.4 - 4 667 c.580G>C c.(580-582)Gag>Cag p.E194Q CCDC151_ENST00000586836.1_Missense_Mutation_p.E3Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E168Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E140Q NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 194 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TTTTGCGCCTCCGCCATCTCC 0.677000 30 45 0 0 0.003271 0 0 PRKD3 23683 broad.mit.edu 37 2 37506980 37506980 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:37506980C>T ENST00000379066.1 - 8 1843 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K PRKD3_ENST00000234179.2_Missense_Mutation_p.E361K O94806 KPCD3_HUMAN protein kinase D3 361 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GATGGCTCTTCTGTGTCATCC 0.398000 50 49 0 0 0.014410 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 3 140 0 0 0.004672 0 0 CCDC36 339834 broad.mit.edu 37 3 49278823 49278823 + Splice_Site SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:49278823G>T ENST00000438782.1 + 4 631 c.e4+1 CCDC36_ENST00000366429.2_Splice_Site|CCDC36_ENST00000296449.5_Splice_Site|CCDC36_ENST00000452691.2_Splice_Site|CCDC36_ENST00000451634.2_Splice_Site Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AATGTGACAGGTATGTAAACC 0.343000 13 6 1.05317e-09 1.28951e-09 0.002450 1 0 FGF23 8074 broad.mit.edu 37 12 4479837 4479837 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:4479837C>G ENST00000237837.1 - 3 573 c.428G>C c.(427-429)aGa>aCa p.R143T NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 143 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CAGGAAGGCTCTCTTCGCCCG 0.597000 68 110 0 0 0.014410 0 0 OR10A6 390093 broad.mit.edu 37 11 7950014 7950014 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:7950014A>C ENST00000309838.2 - 1 195 c.196T>G c.(196-198)Tta>Gta p.L66V NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACCACAGATAAGTTCAGGAGA 0.443000 61 29 0 0 0.014410 0 0 AP1G2 8906 broad.mit.edu 37 14 24034829 24034829 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:24034829C>T ENST00000308724.5 - 6 1482 c.727G>A c.(727-729)Gac>Aac p.D243N RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N|AP1G2_ENST00000556277.1_5'UTR NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 243 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) AGGAAGGGGTCGCTGACTCCA 0.557000 16 31 0 0 0.007413 0 0 SRSF6 6431 broad.mit.edu 37 20 42087030 42087030 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:42087030G>T ENST00000244020.3 + 2 243 c.137G>T c.(136-138)cGc>cTc p.R46L NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 46 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 GAGGACTCCCGCGACGCCGAC 0.721000 4 0 0.00024832 0.000291425 0.009096 1 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874373 74874373 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:74874373C>T ENST00000331628.3 - 4 829 c.582G>A c.(580-582)ggG>ggA p.G194G SYNDIG1L_ENST00000554823.1_Silent_p.G194G NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 194 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 GGCGGAAGTCCCCTTTGGAGA 0.662000 33 69 0 0 0.004289 0 0 OR6C75 390323 broad.mit.edu 37 12 55759093 55759093 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:55759093C>T ENST00000343399.3 + 1 199 c.199C>T c.(199-201)Ctg>Ttg p.L67L NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 CTTCTCATTCCTGGAAATTTC 0.443000 81 119 0 0 0.014410 0 0 MORC3 23515 broad.mit.edu 37 21 37741537 37741537 + Nonsense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr21:37741537C>G ENST00000400485.1 + 15 1947 c.1871C>G c.(1870-1872)tCa>tGa p.S624* MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 624 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 CAGACTGGTTCAACAAGCACC 0.448000 33 78 0 0 0.013726 0 0 ARG2 384 broad.mit.edu 37 14 68108986 68108986 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:68108986C>T ENST00000261783.3 + 3 448 c.268C>T c.(268-270)Cgc>Tgc p.R90C ARG2_ENST00000556491.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 90 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) AGTGAATCCACGCTCAGTGGG 0.507000 24 31 0 0 0.002780 0 0 CNTN5 53942 broad.mit.edu 37 11 100211833 100211833 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:100211833C>G ENST00000524871.1 + 23 3216 c.2926C>G c.(2926-2928)Caa>Gaa p.Q976E CNTN5_ENST00000528682.1_Missense_Mutation_p.Q976E|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q976E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q902E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 976 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCTCCTAGTCAAGCACCTAG 0.428000 4 110 0 0 0.009096 0 0 TLK2 11011 broad.mit.edu 37 17 60685501 60685501 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:60685501G>C ENST00000582809.1 + 22 2327 c.1624G>C c.(1624-1626)Gaa>Caa p.E542Q TLK2_ENST00000346027.5_Missense_Mutation_p.E691Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E659Q|TLK2_ENST00000326270.9_Missense_Mutation_p.E713Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E659Q Q86UE8 TLK2_HUMAN tousled-like kinase 2 713 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 AGTAACACCTGAAGCAAAGGT 0.433000 35 29 0 0 0.003271 0 0 LARP4B 23185 broad.mit.edu 37 10 863817 863817 + Nonsense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:863817G>A ENST00000316157.3 - 14 1583 c.1543C>T c.(1543-1545)Cag>Tag p.Q515* NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 515 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GTTGGAGACTGTGTCTGGCTG 0.557000 23 49 0 0 0.014323 0 0 SYNE2 23224 broad.mit.edu 37 14 64518544 64518544 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:64518544C>G ENST00000358025.3 + 48 8143 c.7913C>G c.(7912-7914)aCt>aGt p.T2638S SYNE2_ENST00000554584.1_Missense_Mutation_p.T2671S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2638S NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2638 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTACAGGACACTGAGATTTCT 0.448000 14 99 0 0 0.002450 0 0 SEC1P 653677 broad.mit.edu 37 19 49183902 49183902 + RNA SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:49183902G>A ENST00000430145.2 + 0 989 NR_004401.2 CATGCCGCGCGTATGGAAGGG 0.697000 9 11 0 0 0.010729 0 0 LIPN 643418 broad.mit.edu 37 10 90521213 90521213 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr10:90521213T>C ENST00000404459.1 + 1 51 c.51T>C c.(49-51)aaT>aaC p.N17N NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 17 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) GAACTTTAAATGCTGGTGGAT 0.343000 39 62 0 0 0.011902 0 0 ITGA4 3676 broad.mit.edu 37 2 182387035 182387035 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:182387035C>T ENST00000397033.2 + 18 2470 c.2040C>T c.(2038-2040)ccC>ccT p.P680P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 680 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.P680P(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAAACTACCCGTGGGTCTTT 0.338000 25 47 0 0 0.002780 0 0 ASAP1 50807 broad.mit.edu 37 8 131073299 131073299 + Silent SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:131073299T>C ENST00000357668.1 - 27 2745 c.2718A>G c.(2716-2718)acA>acG p.T906T ASAP1_ENST00000518721.1_Silent_p.T906T Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 906 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AGAGATGATCTGTTTTCCTTA 0.493000 83 271 0 0 0.014410 0 0 VPS13B 157680 broad.mit.edu 37 8 100513954 100513954 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:100513954G>A ENST00000395996.1 + 26 4021 c.3910G>A c.(3910-3912)Gat>Aat p.D1304N VPS13B_ENST00000358544.2_Missense_Mutation_p.D1304N|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1304N Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1304 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACCATTCTCAGATTCTGTGAC 0.368000 95 129 0 0 0.014410 0 0 LRPPRC 10128 broad.mit.edu 37 2 44162018 44162018 + Splice_Site SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:44162018C>A ENST00000260665.7 - 24 2562 c.e24-1 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TAGGTCGCCCCTTAGAAACAA 0.328000 23 38 2.21704e-12 2.75799e-12 0.002780 1 0 CSPG4 1464 broad.mit.edu 37 15 75982451 75982451 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:75982451G>A ENST00000308508.5 - 3 1047 c.955C>T c.(955-957)Cgg>Tgg p.R319W NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 319 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGACTGCCCCGTGGCTCCAGG 0.617000 12 7 0 0 0.001855 0 0 FSCN1 6624 broad.mit.edu 37 7 5632776 5632776 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:5632776T>A ENST00000382361.3 + 1 323 c.209T>A c.(208-210)cTg>cAg p.L70Q FSCN1_ENST00000340250.6_Missense_Mutation_p.L49Q NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 70 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) GGCCGCTACCTGGCGGCGGAC 0.706000 4 10 0 0 0.009096 0 0 NBPF15 284565 broad.mit.edu 37 1 148594407 148594407 + Missense_Mutation SNP G G A rs144416833 byFrequency TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:148594407G>A ENST00000442702.2 + 21 2847 c.1780G>A c.(1780-1782)Gtg>Atg p.V594M NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 594 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) GCTCTACGGCGTGCTGATGGA 0.458000 124 192 0 0 0.014410 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102993566 102993566 + Missense_Mutation SNP A A C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:102993566A>C ENST00000375735.2 + 11 1642 c.1498A>C c.(1498-1500)Atc>Ctc p.I500L DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I500L|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I500L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 500 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGATGATACTATCAAGATTGC 0.358000 15 25 0 0 0.007413 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356496 22356496 + RNA SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:22356496C>A ENST00000390437.2 + 0 259 CCGAGGTTCCCAGTCCTTCTT 0.478000 44 64 1.47197e-15 1.87616e-15 0.007835 1 0 UBN2 254048 broad.mit.edu 37 7 138968956 138968956 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr7:138968956G>C ENST00000288561.8 + 15 3305 c.3056G>C c.(3055-3057)aGc>aCc p.S1019T UBN2_ENST00000473989.2_Missense_Mutation_p.S1102T NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1102 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GCCCAGGGTAGCCACTCCAGC 0.473000 59 66 0 0 0.014410 0 0 OR2T12 127064 broad.mit.edu 37 1 248458698 248458698 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:248458698C>T ENST00000317996.1 - 1 182 c.183G>A c.(181-183)ctG>ctA p.L61L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AAAGTTGGCTCAGGAGGAAGT 0.552000 54 58 0 0 0.014410 0 0 ZNF768 79724 broad.mit.edu 37 16 30536326 30536326 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:30536326C>A ENST00000380412.5 - 2 1310 c.1135G>T c.(1135-1137)Ggc>Tgc p.G379C ZNF768_ENST00000562803.1_Missense_Mutation_p.G348C NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 379 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TAGCACTTGCCGCACTCGGTG 0.637000 23 20 2.41591e-17 3.13062e-17 0.004656 1 0 TCIRG1 10312 broad.mit.edu 37 11 67816400 67816400 + Missense_Mutation SNP A A T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:67816400A>T ENST00000265686.3 + 14 1717 c.1609A>T c.(1609-1611)Atg>Ttg p.M537L TCIRG1_ENST00000532635.1_Missense_Mutation_p.M321L NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 537 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CAAGATGAAGATGTCCGTCAT 0.632000 62 86 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113323395 113323395 + Splice_Site SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:113323395G>T ENST00000297405.5 - 50 7941 c.7696_splice c.e50-1 p.A2566_splice CSMD3_ENST00000343508.3_Splice_Site_p.A2526_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2462_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A2496_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2566 CUB 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACAGTAGAAAGCTTTTCAAAA 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 59 4.93089e-13 6.20853e-13 0.002450 1 0 NAALAD2 10003 broad.mit.edu 37 11 89902099 89902099 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr11:89902099G>C ENST00000534061.1 + 12 1511 c.1281G>C c.(1279-1281)gaG>gaC p.E427D NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E394D NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 427 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AACTACAGGAGAATGTCAAAA 0.303000 12 42 0 0 0.001855 0 0 DST 667 broad.mit.edu 37 6 56481828 56481828 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:56481828G>T ENST00000370765.6 - 24 6544 c.6437C>A c.(6436-6438)tCt>tAt p.S2146Y DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1532 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCTTTTGTAGATTCTAGGTA 0.423000 21 53 2.21704e-12 2.75799e-12 0.002780 1 0 SGK223 157285 broad.mit.edu 37 8 8234394 8234394 + Nonsense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:8234394C>A ENST00000520004.1 - 3 1789 c.1525G>T c.(1525-1527)Gag>Tag p.E509* SGK223_ENST00000330777.4_Nonsense_Mutation_p.E509* Q86YV5 SG223_HUMAN 509 ATP binding|non-membrane spanning protein tyrosine kinase activity TCACCTACCTCGGAGTTCTGG 0.652000 13 8 0.000219431 0.000258497 0.002450 1 0 DEFB116 245930 broad.mit.edu 37 20 29891043 29891043 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:29891043G>T ENST00000400549.1 - 2 280 c.281C>A c.(280-282)aCa>aAa p.T94K NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 94 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGAACTGTTTGTAACTGACAA 0.383000 83 183 3.76054e-38 5.06289e-38 0.014410 1 0 LY75 4065 broad.mit.edu 37 2 160663608 160663608 + Silent SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:160663608G>C ENST00000263636.4 - 34 4893 c.4866C>G c.(4864-4866)gtC>gtG p.V1622V LY75_ENST00000554112.1_Silent_p.V1622V|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Silent_p.V1622V NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTTCCCATTTGACAAATGTCA 0.343000 15 40 0 0 0.003163 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336596 39336596 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:39336596G>C ENST00000221419.5 - 3 887 c.521C>G c.(520-522)tCt>tGt p.S174C HNRNPL_ENST00000600873.1_Missense_Mutation_p.S41C NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 174 RRM 1. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CTGGCTGGTAGAGTAGTTGAC 0.522000 51 98 0 0 0.014410 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264849 50264849 + Silent SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr15:50264849G>T ENST00000284509.6 - 13 1314 c.1173C>A c.(1171-1173)tcC>tcA p.S391S ATP8B4_ENST00000559829.1_Silent_p.S391S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 391 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCGTTTTGTCGGAGAAAATGT 0.433000 20 3 3.7963e-18 4.96072e-18 0.003330 1 0 GLT8D2 83468 broad.mit.edu 37 12 104390557 104390557 + Missense_Mutation SNP C C T rs7133444 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:104390557C>T ENST00000360814.4 - 8 961 c.556G>A c.(556-558)Gat>Aat p.D186N GLT8D2_ENST00000548660.1_Missense_Mutation_p.D186N|GLT8D2_ENST00000546436.1_Missense_Mutation_p.D186N NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 186 integral to membrane transferase activity, transferring glycosyl groups p.D186N(1) kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 GAGGGCAAATCGCAGTCATCT 0.502000 59 19 0 0 0.014410 0 0 SOS2 6655 broad.mit.edu 37 14 50616839 50616839 + Silent SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:50616839T>A ENST00000216373.5 - 14 2545 c.2271A>T c.(2269-2271)ccA>ccT p.P757P SOS2_ENST00000543680.1_Silent_p.P724P NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 757 Poly-Pro. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) ATTCAATTGGTGGAGGTGGAC 0.408000 50 94 0 0 0.014410 0 0 LRP1 4035 broad.mit.edu 37 12 57594938 57594938 + Splice_Site SNP T T C rs111522273 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:57594938T>C ENST00000243077.3 + 65 10811 c.e65+2 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGGACTGCCGTGAGTGTCAGA 0.567000 45 84 0 0 0.014410 0 0 POTEH 23784 broad.mit.edu 37 22 16279295 16279295 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:16279295G>T ENST00000343518.6 - 4 979 c.928C>A c.(928-930)Ctc>Atc p.L310I NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 310 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 AGTGGTGTGAGGCCATGCTGT 0.323000 36 510 2.215e-12 2.75799e-12 0.011902 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74801935 74801935 + Missense_Mutation SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:74801935T>C ENST00000380494.5 - 3 780 c.487A>G c.(487-489)Aac>Gac p.N163D COL4A3BP_ENST00000261415.7_Missense_Mutation_p.N35D|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.N35D NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 35 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TGAATGTAGTTTGTCCACTGG 0.378000 26 4 0 0 0.003954 0 0 BAG4 9530 broad.mit.edu 37 8 38034614 38034614 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:38034614G>A ENST00000287322.4 + 1 498 c.227G>A c.(226-228)gGa>gAa p.G76E BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.G76E NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 76 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TATCCCTCGGGAGGCGCCTGG 0.706000 21 6 0 0 0.012319 0 0 PIK3R4 30849 broad.mit.edu 37 3 130425836 130425836 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:130425836C>G ENST00000356763.3 - 11 3234 c.2677G>C c.(2677-2679)Gag>Cag p.E893Q NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 893 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GCAGAGGACTCGGAACGAGGA 0.502000 3 53 0 0 0.004672 0 0 CC2D1B 200014 broad.mit.edu 37 1 52823543 52823543 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:52823543C>G ENST00000371586.2 - 14 1645 c.1507G>C c.(1507-1509)Gcc>Ccc p.A503P CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.A497P NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 503 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 GGTTTCTTGGCCACTGGGGCC 0.632000 30 11 0 0 0.013726 0 0 MAGED1 9500 broad.mit.edu 37 X 51639730 51639730 + Nonsense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:51639730C>T ENST00000375695.2 + 5 1300 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.Q327*|MAGED1_ENST00000375722.1_Nonsense_Mutation_p.Q327* NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 327 22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TCCAGCTAGGCAGACCCCACC 0.602000 Multiple Myeloma(10;0.10) 30 9 0 0 0.009535 0 0 MEF2C 4208 broad.mit.edu 37 5 88018742 88018742 + Splice_Site SNP T T C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:88018742T>C ENST00000504921.2 - 10 1773 c.1100_splice c.e10-1 p.G367_splice MEF2C_ENST00000340208.5_Splice_Site_p.G377_splice|MEF2C_ENST00000510942.1_Splice_Site_p.G359_splice|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514028.1_Splice_Site_p.G367_splice|MEF2C_ENST00000424173.2_Splice_Site_p.G357_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G367_splice|MEF2C_ENST00000539796.1_Splice_Site_p.G311_splice|MEF2C_ENST00000514015.1_Intron Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 367 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TAGTGCAAGCTCTGTAGGAGG 0.463000 HNSCC(66;0.2) 4 7 0 0 0.009096 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184366790 184366790 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr4:184366790G>A ENST00000504169.1 + 2 582 c.375G>A c.(373-375)gtG>gtA p.V125V CDKN2AIP_ENST00000302350.4_Intron|CDKN2AIP_ENST00000510928.1_Silent_p.V125V|CDKN2AIP_ENST00000506835.1_Intron NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 125 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTGCCAAGGTGAAGAAAAGAG 0.363000 17 8 0 0 0.006122 0 0 LIN9 286826 broad.mit.edu 37 1 226454018 226454018 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:226454018C>T ENST00000328205.5 - 9 1425 c.880G>A c.(880-882)Gag>Aag p.E294K LIN9_ENST00000481685.1_Missense_Mutation_p.E259K|LIN9_ENST00000366801.1_Missense_Mutation_p.E243K NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 278 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGCATTGTCTCATGAGGTTCA 0.363000 9 23 0 0 0.010729 0 0 ITGB6 3694 broad.mit.edu 37 2 160994637 160994637 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:160994637C>T ENST00000283249.2 - 9 1418 c.1181G>A c.(1180-1182)tGt>tAt p.C394Y ITGB6_ENST00000409872.1_Missense_Mutation_p.C394Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C352Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C394Y P18564 ITB6_HUMAN integrin, beta 6 394 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACCGTTGTTACAGATGGCTGT 0.428000 6 134 0 0 0.001168 0 0 ITGAD 3681 broad.mit.edu 37 16 31422110 31422110 + Missense_Mutation SNP G G T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:31422110G>T ENST00000389202.2 + 12 1316 c.1267G>T c.(1267-1269)Gcc>Tcc p.A423S NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 423 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGTCCTGGGGGCCCCCCGCTA 0.642000 25 53 7.38237e-10 9.07477e-10 0.006320 1 0 EFEMP1 2202 broad.mit.edu 37 2 56149558 56149558 + Silent SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr2:56149558G>A ENST00000394555.2 - 2 453 c.18C>T c.(16-18)ttC>ttT p.F6F EFEMP1_ENST00000355426.3_Silent_p.F6F|EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000394554.1_Silent_p.F6F|EFEMP1_ENST00000497698.1_5'UTR NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 6 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCATAGTTAGGAAAAGGGCTT 0.428000 66 71 0 0 0.014410 0 0 GPR112 139378 broad.mit.edu 37 X 135439890 135439890 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chrX:135439890G>C ENST00000394143.1 + 10 7246 c.6955G>C c.(6955-6957)Gct>Cct p.A2319P GPR112_ENST00000394141.1_Missense_Mutation_p.A2114P|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.A2114P|GPR112_ENST00000370652.1_Missense_Mutation_p.A2319P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2319 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAAGAAATGGCTACAATTTC 0.348000 5 126 0 0 0.001984 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51281127 51281127 + Missense_Mutation SNP G G A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr12:51281127G>A ENST00000398458.3 + 5 910 c.878G>A c.(877-879)gGc>gAc p.G293D TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365.1 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 293 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TACGGACATGGCTGTGGTCGA 0.433000 53 73 0 0 0.014410 0 0 USP7 7874 broad.mit.edu 37 16 8990890 8990890 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:8990890C>G ENST00000344836.4 - 26 2983 c.2785G>C c.(2785-2787)Gtg>Ctg p.V929L USP7_ENST00000535863.1_Missense_Mutation_p.V830L|USP7_ENST00000381886.4_Missense_Mutation_p.V913L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 929 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CCAAGCTCCACGGCCTTTTTA 0.438000 13 251 0 0 0.004007 0 0 GPR98 84059 broad.mit.edu 37 5 89988434 89988434 + Missense_Mutation SNP C C A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr5:89988434C>A ENST00000405460.2 + 32 7060 c.6964C>A c.(6964-6966)Caa>Aaa p.Q2322K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2322 Calx-beta 16. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATCCAAGTGCAACTAACTGA 0.348000 9 4 0.00829132 0.00951513 0.008291 1 0 HHIPL1 84439 broad.mit.edu 37 14 100125954 100125954 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr14:100125954C>T ENST00000330710.5 + 4 1334 c.1236C>T c.(1234-1236)cgC>cgT p.R412R HHIPL1_ENST00000357223.2_Silent_p.R412R NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 412 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GCACTGGCCGCGGGCGCCTCT 0.726000 6 4 0 0 0.001168 0 0 TRIM27 5987 broad.mit.edu 37 6 28871930 28871930 + Missense_Mutation SNP G G C TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:28871930G>C ENST00000377199.3 - 8 1815 c.1459C>G c.(1459-1461)Ctg>Gtg p.L487V TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 487 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CAGATGATCAGAGGAGCTGCA 0.527000 T RET papillary thyroid 57 63 0 0 0.014410 0 0 KMT2B 9757 broad.mit.edu 37 19 36210733 36210733 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:36210733C>T ENST00000222270.7 + 3 484 c.484C>T c.(484-486)Cct>Tct p.P162S WBP7_ENST00000341701.1_Missense_Mutation_p.P162S|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P162S NM_014727.1 NP_055542.1 GACCCCCCTTCCTCCTCCTCG 0.607000 52 97 0 0 0.014410 0 0 KRI1 65095 broad.mit.edu 37 19 10675688 10675688 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:10675688C>T ENST00000312962.6 - 3 228 c.209G>A c.(208-210)cGg>cAg p.R70Q KRI1_ENST00000361821.5_Missense_Mutation_p.R66Q|KRI1_ENST00000537964.1_5'UTR NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 70 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GTAAAAGTCCCGCTCCTGCTG 0.522000 OREG0025239 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 65 0 0 0.013726 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868743 22868743 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr22:22868743C>T ENST00000302097.3 - 2 1464 c.1212G>A c.(1210-1212)tcG>tcA p.S404S NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CAGCAAAGACCGACGATCTGT 0.413000 6 116 0 0 0.001168 0 0 AHDC1 27245 broad.mit.edu 37 1 27875791 27875792 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:27875791_27875792insG ENST00000374011.2 - 6 3803_3804 c.2835_2836insC c.(2833-2838)ccagctfs p.A946fs AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.A946fs NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 946 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGCACCAGCTTGGGGAAGGTCT 0.678 56 33 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44467092 44467094 + In_Frame_Del DEL GAA GAA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:44467092_44467094delGAA ENST00000372310.3 - 9 1333_1335 c.1168_1170delTTC c.(1168-1170)del p.F390del SLC6A9_ENST00000357730.2_In_Frame_Del_p.F409del|SLC6A9_ENST00000475075.2_In_Frame_Del_p.F279del|SLC6A9_ENST00000372306.3_In_Frame_Del_p.F390del|SLC6A9_ENST00000537678.1_In_Frame_Del_p.F325del|SLC6A9_ENST00000360584.2_In_Frame_Del_p.F463del|SLC6A9_ENST00000372307.3_In_Frame_Del_p.F325del NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 463 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GGATAAGCATGAAGAAGAAGAGC 0.640 29 68 --- --- --- --- NBPF18P 441908 broad.mit.edu 37 1 151992831 151992831 + RNA DEL G G - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr1:151992831delG ENST00000432386.1 + 0 2480 NR_103561.1 GCGGCCCCGTGGGGGCAGGCA 0.567 42 75 --- --- --- --- ETV5 2119 broad.mit.edu 37 3 185797720 185797721 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr3:185797720_185797721insG ENST00000306376.5 - 7 781_782 c.535_536insC c.(535-537)ttcfs p.F179fs ETV5_ENST00000537818.1_Frame_Shift_Ins_p.F221fs|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Frame_Shift_Ins_p.F179fs NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 179 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) TGGAAGCGAATGGGGGGCGGGG 0.614 T """TMPRSS2, SCL45A3""" Prostate 40 181 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7211049 7211071 + Frame_Shift_Del DEL CCATGAGAAGGACCCTAACAGTG CCATGAGAAGGACCCTAACAGTG - rs145494137 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:7211049_7211071delCCATGAGAAGGACCCTAACAGTG ENST00000379938.2 + 7 975_997 c.438_460delCCATGAGAAGGACCCTAACAGTG c.(436-462)atccfs p.IHEKDPNSA146fs RREB1_ENST00000349384.6_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.IHEKDPNSA146fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.IHEKDPNSA146fs NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 146 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ATATGAAGATCCATGAGAAGGACCCTAACAGTGCCACAGCCAC 0.439 12 87 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27835121 27835121 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr6:27835121delC ENST00000331442.3 - 1 238 c.187delG c.(187-189)cafs p.A64fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 64 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TTAAGGGCTGCCAAAGAAAGG 0.607 14 166 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10467489 10467503 + In_Frame_Del DEL CTGCACCCCCTCTTC CTGCACCCCCTCTTC - rs116242305 by1000genomes TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:10467489_10467503delCTGCACCCCCTCTTC ENST00000382483.3 - 4 4328_4342 c.4105_4119delGAAGAGGGGGTGCAG c.(4105-4119)del p.EEGVQ1369del NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1369 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCct 0.498 10 201 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144992466 144992479 + Frame_Shift_Del DEL GCTGGGCTCTGACA GCTGGGCTCTGACA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr8:144992466_144992479delGCTGGGCTCTGACA ENST00000322810.4 - 32 12090_12103 c.11921_11934delTGTCAGAGCCCAGC c.(11920-11934)cfs p.LSEPS3974fs PLEC_ENST00000356346.3_Frame_Shift_Del_p.LSEPS3823fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.LSEPS3841fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.LSEPS3860fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.LSEPS3805fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.LSEPS3837fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.LSEPS3864fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.LSEPS3815fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3974 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTG 0.692 9 26 --- --- --- --- LRRC19 64922 broad.mit.edu 37 9 26999638 26999640 + In_Frame_Del DEL ATA ATA - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr9:26999638_26999640delATA ENST00000380055.5 - 2 163_165 c.53_55delTAT c.(52-57)tca>t p.LS18del IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron NM_022901.2 NP_075052.1 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 18 integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) ATTTTGTCTGATAATAATATCAT 0.291 14 20 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88328028 88328029 + Frame_Shift_Ins INS - - G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr13:88328028_88328029insG ENST00000325089.6 + 2 604_605 c.385_386insG c.(385-387)gggfs p.G129fs SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 129 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCATGGGCTACGGGGTTTGAGG 0.450 71 108 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 5 1 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577032 7577033 + Frame_Shift_Del DEL CC CC - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:7577032_7577033delCC ENST00000420246.2 - 8 1037_1038 c.905_906delGG c.(904-906)gfs p.G302fs TP53_ENST00000445888.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G302fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.G302fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G302fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 302 Interaction with CARM1.|Interaction with HIPK1 (By similarity). G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in a sporadic cancer; somatic mutation).|G -> V (in a sporadic cancer; 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.0?(8)|p.?(3)|p.G302E(3)|p.G302G(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.S303fs*42(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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) GCTTAGTGCTCCCTGGGGGCAG 0.554 111 """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) 43 70 --- --- --- --- AKAP1 8165 broad.mit.edu 37 17 55189196 55189197 + Frame_Shift_Ins INS - - T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr17:55189196_55189197insT ENST00000337714.3 + 4 2119_2120 c.1886_1887insT c.(1885-1887)tgtfs p.C629fs AKAP1_ENST00000571629.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000572557.1_Frame_Shift_Ins_p.C629fs|AKAP1_ENST00000539273.1_Frame_Shift_Ins_p.C629fs NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 629 KH. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CAGGGGCGCTATGTGAGTTTTC 0.480 86 100 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41173905 41173907 + In_Frame_Del DEL TGC TGC - rs67712968 TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:41173905_41173907delTGC ENST00000252891.4 - 10 1463_1465 c.1296_1298delGCA c.(1294-1299)caa>ca p.QQ444del NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ403del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ403del NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 444 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) ctgttgctgttgctgctgctgct 0.660 3 5 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45762300 45762300 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr19:45762300delC ENST00000300843.4 + 2 402 c.105delC c.(103-105)agfs p.S35fs MARK4_ENST00000262891.4_Frame_Shift_Del_p.S35fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 35 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTGGTCCAGCCGCTCACTGG 0.662 16 28 --- --- --- --- ACSS2 55902 broad.mit.edu 37 20 33502206 33502206 + Frame_Shift_Del DEL C C - TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03eb2650-4b9f-46d2-b09f-378d8e919ae2 0a473b19-15a2-42aa-9307-2b830a2476e1 g.chr20:33502206delC ENST00000360596.2 + 7 1011 c.800delC c.(799-801)tcfs p.S267fs ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Frame_Shift_Del_p.S217fs|ACSS2_ENST00000253382.5_Frame_Shift_Del_p.S267fs NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 267 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACCAGCCAGTCCCCCCCAATT 0.537 20 64 --- --- --- ---