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 RBM26 64062 broad.mit.edu 37 13 79939829 79939829 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:79939829T>C ENST00000438737.2 - 9 1741 c.1301A>G c.(1300-1302)aAt>aGt p.N434S RBM26_ENST00000267229.7_Missense_Mutation_p.N434S|RBM26_ENST00000438724.1_Missense_Mutation_p.N434S Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 434 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GGCTTCAGGATTGTAGCCATC 0.353000 7 62 0 0 0.003080 0 0 BTN3A1 11119 broad.mit.edu 37 6 26407948 26407948 + Silent SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:26407948G>T ENST00000289361.6 + 4 851 c.483G>T c.(481-483)ggG>ggT p.G161G BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Silent_p.G161G|BTN3A1_ENST00000476549.2_Silent_p.G161G NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 161 Ig-like V-type 2. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 AGGATGGAGGGATCCATCTGG 0.517000 9 118 1.12685e-05 1.18991e-05 0.004482 1 0 SPN 6693 broad.mit.edu 37 16 29676187 29676187 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:29676187G>A ENST00000360121.3 + 2 1230 c.1138G>A c.(1138-1140)Gag>Aag p.E380K SPN_ENST00000395389.2_Missense_Mutation_p.E380K NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 380 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 GGTGGCCAGTGAGGATGGGGC 0.652000 3 14 0 0 0.000602 0 0 KRI1 65095 broad.mit.edu 37 19 10670041 10670041 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:10670041G>A ENST00000312962.6 - 12 1225 c.1206C>T c.(1204-1206)ctC>ctT p.L402L KRI1_ENST00000361821.5_Silent_p.L398L NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 402 Glu-rich. 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) GCACCTGCATGAGCTGGTCGT 0.602000 10 34 0 0 0.006214 0 0 NBR1 4077 broad.mit.edu 37 17 41329983 41329983 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:41329983C>G ENST00000422280.1 + 3 592 c.133C>G c.(133-135)Caa>Gaa p.Q45E NBR1_ENST00000389312.4_Missense_Mutation_p.Q45E|NBR1_ENST00000341165.6_Missense_Mutation_p.Q45E|NBR1_ENST00000589872.1_Missense_Mutation_p.Q45E|NBR1_ENST00000590996.1_Missense_Mutation_p.Q45E|NBR1_ENST00000542611.1_Intron NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 45 OPR. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GAATACTATTCAAATAAAATA 0.308000 3 28 0 0 0.004672 0 0 ZNF574 64763 broad.mit.edu 37 19 42584035 42584035 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:42584035C>T ENST00000600245.1 + 2 1932 c.1277C>T c.(1276-1278)cCa>cTa p.P426L ZNF574_ENST00000359044.4_Missense_Mutation_p.P426L|ZNF574_ENST00000222339.7_Missense_Mutation_p.P516L|CTB-59C6.3_ENST00000594531.1_RNA Q6ZN55 ZN574_HUMAN zinc finger protein 574 426 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) ACACCAGTCCCACCAGAGGAA 0.587000 10 168 0 0 0.008291 0 0 OR2L3 391192 broad.mit.edu 37 1 248224758 248224758 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:248224758C>G ENST00000359959.3 + 1 775 c.775C>G c.(775-777)Cta>Gta p.L259V OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTACACTTATCTACGTCCAAG 0.493000 3 122 0 0 0.004672 0 0 PKN2 5586 broad.mit.edu 37 1 89290038 89290038 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:89290038G>A ENST00000370521.3 + 18 2747 c.2388G>A c.(2386-2388)gtG>gtA p.V796V PKN2_ENST00000544045.1_Silent_p.V470V|PKN2_ENST00000370505.3_Silent_p.V639V|PKN2_ENST00000370513.5_Silent_p.V748V NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 796 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AGGGCTTTGTGAAAATTGCTG 0.308000 8 54 0 0 0.004482 0 0 DZANK1 55184 broad.mit.edu 37 20 18374906 18374906 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:18374906G>C ENST00000357236.4 - 17 2017 c.1358C>G c.(1357-1359)tCc>tGc p.S453C DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000358866.6_Missense_Mutation_p.S567C|DZANK1_ENST00000262547.5_Missense_Mutation_p.S567C Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 394 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 ACCCCAGCTGGACCTGCTGCC 0.512000 10 17 0 0 0.008291 0 0 DDB2 1643 broad.mit.edu 37 11 47236784 47236784 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:47236784G>C ENST00000256996.4 + 1 292 c.97G>C c.(97-99)Gag>Cag p.E33Q DDB2_ENST00000378600.3_Missense_Mutation_p.E33Q|DDB2_ENST00000378601.3_Missense_Mutation_p.E33Q|DDB2_ENST00000378603.3_Missense_Mutation_p.E33Q NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 33 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 GCTGGAGCCCGAGGCCAAGAA 0.612000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 3 161 0 0 0.004672 0 0 C9orf172 389813 broad.mit.edu 37 9 139741083 139741083 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:139741083C>T ENST00000436881.1 + 1 2217 c.2217C>T c.(2215-2217)atC>atT p.I739I NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 739 endometrium(2)|large_intestine(1)|lung(6) 9 TCTCGCGCATCGCGCGTGTCG 0.706000 9 9 0 0 0.004482 0 0 ZNF91 7644 broad.mit.edu 37 19 23545372 23545372 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23545372C>G ENST00000300619.7 - 4 614 c.409G>C c.(409-411)Gaa>Caa p.E137Q ZNF91_ENST00000397082.2_Missense_Mutation_p.E105Q|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTATAACCTTCTTTGTGCACC 0.299000 23 60 0 0 0.005443 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 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) 16 67 0 0 0.003163 0 0 TENM2 57451 broad.mit.edu 37 5 167673915 167673915 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:167673915G>A ENST00000519204.1 + 26 5726 c.5608G>A c.(5608-5610)Gaa>Aaa p.E1870K TENM2_ENST00000403607.2_Missense_Mutation_p.E1815K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1752K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1991K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1990K teneurin transmembrane protein 2 CAACCCGCCTGAAAGCAATGC 0.557000 21 82 0 0 0.008871 0 0 MOB2 81532 broad.mit.edu 37 11 1491480 1491480 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:1491480G>A ENST00000329957.6 - 5 918 c.729C>T c.(727-729)ggC>ggT p.G243G MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 212 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 TGTGGACCCCGCCGGCCCCGC 0.682000 11 32 0 0 0.008291 0 0 PRDM9 56979 broad.mit.edu 37 5 23521274 23521274 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:23521274C>G ENST00000296682.3 + 6 676 c.494C>G c.(493-495)tCa>tGa p.S165* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 165 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGACAGCACTCAAGACTAAAA 0.453000 HNSCC(3;0.000094) 14 69 0 0 0.001855 0 0 C2orf78 388960 broad.mit.edu 37 2 74043855 74043855 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:74043855C>T ENST00000409561.1 + 3 2626 c.2505C>T c.(2503-2505)ctC>ctT p.L835L NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 835 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGACCAGTCTCCGGTCACTGC 0.507000 14 79 0 0 0.004007 0 0 FAT2 2196 broad.mit.edu 37 5 150925577 150925577 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:150925577G>C ENST00000261800.5 - 9 5123 c.5111C>G c.(5110-5112)tCt>tGt p.S1704C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1704 Cadherin 15. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAGTTCATAGAGAAGACTCC 0.448000 36 47 0 0 0.003755 0 0 RASGRF2 5924 broad.mit.edu 37 5 80369170 80369170 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:80369170C>T ENST00000265080.4 + 5 853 c.786C>T c.(784-786)ctC>ctT p.L262L RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 262 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTCACCAGCTCTACATCCTGG 0.512000 9 43 0 0 0.008291 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408296 107408296 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:107408296G>A ENST00000340010.5 - 19 2304 c.2120C>T c.(2119-2121)tCa>tTa p.S707L SLC26A3_ENST00000422236.2_Missense_Mutation_p.S594L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 707 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GAAAAATATTGAGCTTTTCAC 0.323000 8 26 0 0 0.003080 0 0 PTPN23 25930 broad.mit.edu 37 3 47447452 47447452 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:47447452C>T ENST00000265562.4 + 6 539 c.462C>T c.(460-462)ttC>ttT p.F154F PTPN23_ENST00000431726.1_Silent_p.F28F NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 154 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCGGCGCCTTCGCCTACCTAC 0.612000 7 22 0 0 0.001984 0 0 ZNF45 7596 broad.mit.edu 37 19 44417605 44417605 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44417605G>C ENST00000269973.5 - 10 3073 c.1983C>G c.(1981-1983)gtC>gtG p.V661V ZNF45_ENST00000589703.1_Silent_p.V661V|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 661 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CATCAGCATGGACTCGCTGAT 0.433000 10 94 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179501355 179501355 + Missense_Mutation SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:179501355A>G ENST00000589042.1 - 225 41323 c.41099T>C c.(41098-41100)gTt>gCt p.V13700A TTN_ENST00000359218.5_Missense_Mutation_p.V4760A|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4827A|TTN_ENST00000591111.1_Missense_Mutation_p.V12059A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4635A|TTN_ENST00000342992.6_Missense_Mutation_p.V11132A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12059 Ig-like 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAAGAGCCAACGAACTCTGA 0.463000 6 63 0 0 0.001168 0 0 PFKFB2 5208 broad.mit.edu 37 1 207242832 207242832 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:207242832C>T ENST00000367080.3 + 11 1175 c.1051C>T c.(1051-1053)Cga>Tga p.R351* PFKFB2_ENST00000411990.2_Nonsense_Mutation_p.R253*|PFKFB2_ENST00000541914.1_Nonsense_Mutation_p.R165*|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000367079.2_Nonsense_Mutation_p.R351*|PFKFB2_ENST00000545806.1_Nonsense_Mutation_p.R318* NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 351 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) GTTTGCACTTCGAGATCAAGA 0.463000 6 79 0 0 0.001168 0 0 OAZ1 4946 broad.mit.edu 37 19 2271908 2271908 + Missense_Mutation SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:2271908A>G ENST00000583542.4 + 4 493 c.419A>G c.(418-420)tAc>tGc p.Y140C OAZ1_ENST00000588673.2_Missense_Mutation_p.Y169C|OAZ1_ENST00000602676.2_Missense_Mutation_p.Y140C|OAZ1_ENST00000582888.4_Missense_Mutation_p.Y138C|OAZ1_ENST00000322297.4_Missense_Mutation_p.Y139C P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) L-Ornithine(DB00129) GGCAGCCTCTACATCGAGATC 0.627000 9 16 0 0 0.004482 0 0 CD68 968 broad.mit.edu 37 17 7483018 7483018 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:7483018C>T ENST00000250092.6 + 1 234 c.23C>T c.(22-24)tCg>tTg p.S8L CD68_ENST00000380498.6_Missense_Mutation_p.S8L NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 8 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 GTGCTTTTCTCGGGGGCCCTG 0.642000 15 5 0 0 0.004007 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233401 125233401 + RNA SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:125233401G>C ENST00000439075.1 - 0 1344 NR_026876.1 ATGGTATATGGTATGTCCTGC 0.403000 3 64 0 0 0.004672 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521497 62521497 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:62521497G>A ENST00000394807.3 - 1 163 c.38C>T c.(37-39)tCg>tTg p.S13L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 CTTGCCAGGCGATGCCTCTAC 0.597000 9 56 0 0 0.008291 0 0 MYH15 22989 broad.mit.edu 37 3 108179195 108179195 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:108179195C>G ENST00000273353.3 - 18 2000 c.1944G>C c.(1942-1944)aaG>aaC p.K648N MYH15_ENST00000495753.2_5'UTR NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 648 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCTTTCGTTTCTTCTCCCCAA 0.328000 3 15 0 0 0.004672 0 0 CDH16 1014 broad.mit.edu 37 16 66950200 66950200 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:66950200C>T ENST00000299752.4 - 4 455 c.262G>A c.(262-264)Gag>Aag p.E88K CDH16_ENST00000568632.1_Missense_Mutation_p.E88K|CDH16_ENST00000565796.1_Missense_Mutation_p.E88K|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.E88K NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 88 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCTGCCTGCTCCTCTCGGTCC 0.622000 10 54 0 0 0.008291 0 0 TMOD2 29767 broad.mit.edu 37 15 52075011 52075011 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:52075011G>C ENST00000249700.4 + 7 939 c.718G>C c.(718-720)Gac>Cac p.D240H TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Missense_Mutation_p.D196H NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 240 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) TCGCAGCAATGACCCTGTGGC 0.393000 4 121 0 0 0.009096 0 0 ROCK1 6093 broad.mit.edu 37 18 18629788 18629788 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:18629788C>T ENST00000399799.2 - 3 1169 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TTCACTACTTCATAATCTTCA 0.274000 11 15 0 0 0.001855 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357240 37357240 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:37357240C>G ENST00000217420.1 + 2 1799 c.1536C>G c.(1534-1536)ctC>ctG p.L512L NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 512 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCACTCCCTCGAGGGCCTCA 0.667000 3 29 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197411332 197411332 + Silent SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:197411332G>T ENST00000367400.3 + 11 4050 c.3915G>T c.(3913-3915)ccG>ccT p.P1305P CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.P1281P|CRB1_ENST00000367399.2_Silent_p.P1193P|CRB1_ENST00000538660.1_Silent_p.P769P|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Silent_p.P786P NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1305 EGF-like 19; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCTCTGATCCGTGTGTCAATG 0.493000 41 164 1.96642e-18 2.13891e-18 0.006999 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). 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) AGCTGGGGCGACAGCAGCTGG 0.657000 4 82 0 0 0.001168 0 0 S1PR1 1901 broad.mit.edu 37 1 101705115 101705115 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:101705115C>G ENST00000305352.6 + 2 950 c.575C>G c.(574-576)tCc>tGc p.S192C NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 192 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TCCAGCTGCTCCACCGTGCTG 0.567000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 76 0 0 0.003271 0 0 ASB18 401036 broad.mit.edu 37 2 237103689 237103689 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:237103689C>T ENST00000330842.6 - 5 1234 c.1140G>A c.(1138-1140)ccG>ccA p.P380P AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Silent_p.P409P|AC079135.1_ENST00000483218.1_RNA Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 409 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) ACTGGTAGAACGGCTTGTGCA 0.542000 7 24 0 0 0.001984 0 0 RFTN2 130132 broad.mit.edu 37 2 198508990 198508990 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:198508990C>G ENST00000295049.4 - 3 866 c.330G>C c.(328-330)aaG>aaC p.K110N NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 CTGCCGAATTCTTTGGGCTGT 0.463000 9 29 0 0 0.004482 0 0 TBC1D1 23216 broad.mit.edu 37 4 38022296 38022296 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:38022296C>T ENST00000261439.4 + 5 1412 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q353* NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 353 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TTACGTGTTTCAGTGCACAAA 0.478000 36 130 0 0 0.003755 0 0 FMN1 342184 broad.mit.edu 37 15 33358805 33358805 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:33358805G>C ENST00000334528.9 - 1 1280 c.1281C>G c.(1279-1281)ctC>ctG p.L427L FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.L427L NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 177 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCTTGCGCTTGAGAGCTTCCA 0.532000 6 21 0 0 0.001984 0 0 INTS3 65123 broad.mit.edu 37 1 153723691 153723691 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:153723691C>T ENST00000456435.1 + 7 1273 c.87C>T c.(85-87)ttC>ttT p.F29F RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Silent_p.F235F|INTS3_ENST00000512605.1_Silent_p.F29F|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000318967.2_Silent_p.F235F|INTS3_ENST00000476843.1_3'UTR Q68E01 INT3_HUMAN integrator complex subunit 3 236 Ala/Gly-rich. DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGTAGACTTCTGCATCTCAC 0.542000 7 72 0 0 0.001984 0 0 FAM63B 54629 broad.mit.edu 37 15 59123984 59123984 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:59123984G>C ENST00000559228.1 + 6 1319 c.1237G>C c.(1237-1239)Gag>Cag p.E413Q FAM63B_ENST00000450403.2_Missense_Mutation_p.E413Q Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 413 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CTTTGTAGCTGAGCAGTTTCT 0.338000 5 54 0 0 0.000602 0 0 MAD1L1 8379 broad.mit.edu 37 7 2269702 2269702 + Nonsense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:2269702G>A ENST00000406869.1 - 3 624 c.67C>T c.(67-69)Cag>Tag p.Q23* MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.Q23*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.Q23* Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 23 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCCACACGCTGAGAGATGAAG 0.532000 6 12 0 0 0.001168 0 0 ZNF273 10793 broad.mit.edu 37 7 64363703 64363703 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:64363703C>T ENST00000476120.1 + 1 79 c.8C>T c.(7-9)tCt>tTt p.S3F ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000319636.5_5'UTR NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCTATGTCCTCTGCTCCTAGA 0.592000 13 37 0 0 0.013537 0 0 MORN3 283385 broad.mit.edu 37 12 122091125 122091125 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:122091125C>T ENST00000355329.3 - 4 674 c.504G>A c.(502-504)atG>atA p.M168I NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 168 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CCCCGTTCTTCATGCCTCTCT 0.587000 9 44 0 0 0.006214 0 0 CLCN1 1180 broad.mit.edu 37 7 143039095 143039095 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:143039095G>C ENST00000343257.2 + 15 1743 c.1656G>C c.(1654-1656)caG>caC p.Q552H NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 552 Q -> R (in THD, MCR and in myotonia levior). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.Q552Q(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TAACGGGTCAGATTGCTCACA 0.532000 23 45 0 0 0.003330 0 0 ZNF223 7766 broad.mit.edu 37 19 44571040 44571040 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44571040C>T ENST00000591793.1 + 7 1472 c.1389C>T c.(1387-1389)ttC>ttT p.F463F ZNF223_ENST00000434772.3_Silent_p.F353F Q9UK11 ZN223_HUMAN zinc finger protein 223 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) GGAAGAGCTTCAGACGGTCCT 0.433000 17 140 0 0 0.006122 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135098627 135098627 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:135098627G>A ENST00000368563.2 - 13 2342 c.1986C>T c.(1984-1986)aaC>aaT p.N662N TUBGCP2_ENST00000543663.1_Silent_p.N690N|TUBGCP2_ENST00000252936.3_Silent_p.N662N|TUBGCP2_ENST00000417178.2_Silent_p.N532N|TUBGCP2_ENST00000368562.1_Silent_p.N255N NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 662 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TGGCGGTTTTGTTGCTGATCC 0.607000 9 52 0 0 0.004482 0 0 OR6A2 8590 broad.mit.edu 37 11 6816130 6816130 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6816130G>C ENST00000332601.3 - 1 998 c.810C>G c.(808-810)ctC>ctG p.L270L NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAAAAGCTGAGAGTGCCTTTG 0.463000 12 67 0 0 0.010729 0 0 EFTUD2 9343 broad.mit.edu 37 17 42936546 42936546 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42936546C>G ENST00000426333.2 - 19 2161 c.1864G>C c.(1864-1866)Gag>Cag p.E622Q EFTUD2_ENST00000591382.1_Missense_Mutation_p.E622Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E612Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E587Q NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 622 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCAGACTCCTCCACCTGAAAC 0.502000 8 73 0 0 0.003080 0 0 LMOD1 25802 broad.mit.edu 37 1 201915321 201915321 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201915321G>A ENST00000367288.4 - 1 394 c.148C>T c.(148-150)Cgg>Tgg p.R50W NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 50 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTTCTCTGCCGCAGCCCCACG 0.587000 13 54 0 0 0.013537 0 0 ADAM23 8745 broad.mit.edu 37 2 207310119 207310119 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:207310119C>T ENST00000264377.3 + 2 631 c.303C>T c.(301-303)atC>atT p.I101I ADAM23_ENST00000374416.1_Silent_p.I101I|ADAM23_ENST00000374415.3_Silent_p.I101I NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 101 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GCAGTAATATCAGTTACAGCA 0.413000 5 92 0 0 0.000602 0 0 C2orf16 84226 broad.mit.edu 37 2 27801569 27801569 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:27801569G>C ENST00000408964.2 + 1 2181 c.2130G>C c.(2128-2130)caG>caC p.Q710H NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 710 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ACGTGTGTCAGAATAGGGACT 0.418000 23 48 0 0 0.012319 0 0 SYT15 83849 broad.mit.edu 37 10 46967671 46967671 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:46967671C>T ENST00000374323.4 - 3 1152 c.565G>A c.(565-567)Gag>Aag p.E189K SYT15_ENST00000374321.4_Missense_Mutation_p.E136K|SYT15_ENST00000503753.1_Missense_Mutation_p.E136K|SYT15_ENST00000374325.3_Missense_Mutation_p.E136K Q9BQS2 SYT15_HUMAN synaptotagmin XV C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CTTTTGTCCTCCGGGAACTTG 0.617000 13 132 0 0 0.002450 0 0 SNRNP48 154007 broad.mit.edu 37 6 7602962 7602962 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:7602962G>C ENST00000342415.5 + 6 761 c.702G>C c.(700-702)aaG>aaC p.K234N NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 234 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 ACATAACCAAGAAATCATATA 0.338000 9 27 0 0 0.006214 0 0 TES 26136 broad.mit.edu 37 7 115890320 115890320 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:115890320G>A ENST00000358204.4 + 4 687 c.472G>A c.(472-474)Gac>Aac p.D158N AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.D149N|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 158 PET. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) CCCTGCACATGACCAGGACCC 0.532000 9 53 0 0 0.004482 0 0 FCRLB 127943 broad.mit.edu 37 1 161697035 161697035 + Splice_Site SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:161697035A>T ENST00000367948.2 + 8 1080 c.e8-1 FCRLB_ENST00000367945.1_Splice_Site|FCRLB_ENST00000336830.5_Splice_Site|FCRLB_ENST00000367944.3_Splice_Site|FCRLB_ENST00000495397.1_Splice_Site|FCRLB_ENST00000367946.3_Splice_Site|FCRLB_ENST00000392158.1_Splice_Site Q6BAA4 FCRLB_HUMAN Fc receptor-like B endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ATGCATTCACAGGTTCTCCCC 0.682000 3 17 0 0 0.009096 0 0 GNAO1 2775 broad.mit.edu 37 16 56385394 56385394 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:56385394C>G ENST00000262493.6 + 7 1668 c.822C>G c.(820-822)ctC>ctG p.L274L NM_020988.2 NP_066268.1 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 274 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) AGAAAGATCTCTTTGGCGAGA 0.498000 5 58 0 0 0.001168 0 0 SPECC1L 23384 broad.mit.edu 37 22 24759250 24759250 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:24759250C>A ENST00000314328.9 + 12 3050 c.2765C>A c.(2764-2766)tCa>tAa p.S922* SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S922*|SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S922* NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 922 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 AGAACATCTTCAGCCAGCCGG 0.413000 16 16 1.5739e-10 1.69497e-10 0.004007 1 0 SMR3A 26952 broad.mit.edu 37 4 71232491 71232491 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:71232491G>C ENST00000226460.4 + 3 281 c.185G>C c.(184-186)aGa>aCa p.R62T NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 62 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) GGTCCAGGGAGATTTCCACCA 0.547000 5 97 0 0 0.000602 0 0 TLK2 11011 broad.mit.edu 37 17 60683562 60683562 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:60683562C>T ENST00000582809.1 + 21 2187 c.1484C>T c.(1483-1485)tCg>tTg p.S495L TLK2_ENST00000326270.9_Missense_Mutation_p.S666L|TLK2_ENST00000343388.7_Missense_Mutation_p.S612L|TLK2_ENST00000346027.5_Missense_Mutation_p.S644L|TLK2_ENST00000542523.1_Missense_Mutation_p.S612L Q86UE8 TLK2_HUMAN tousled-like kinase 2 666 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 GATGTGTGGTCGGTGGGTGTG 0.398000 3 36 0 0 0.000602 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846001 72846001 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:72846001G>A ENST00000293190.5 - 7 1709 c.1563C>T c.(1561-1563)gaC>gaT p.D521D GRIN2C_ENST00000347612.4_Silent_p.D521D NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 521 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GTACAGAGAAGTCTACGATCT 0.617000 28 72 0 0 0.006320 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156619 26156619 + Translation_Start_Site SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:26156619A>T ENST00000304218.3 + 1 61 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 1 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 TGCCTTCAACATGTCCGAGAC 0.672000 5 197 0 0 0.001168 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531751 84531751 + RNA SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:84531751C>G ENST00000527857.1 + 0 1773 NR_026851.1 ACATCTCACTCAGGTCCAGTC 0.532000 7 26 0 0 0.001984 0 0 FBXO43 286151 broad.mit.edu 37 8 101149855 101149855 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:101149855G>C ENST00000428847.2 - 3 1928 c.1612C>G c.(1612-1614)Caa>Gaa p.Q538E NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 538 F-box. meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTTTTATCTTGAACAACAATT 0.299000 15 28 0 0 0.004007 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729403 37729403 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37729403C>G ENST00000330843.4 - 4 2929 c.2917G>C c.(2917-2919)Gat>Cat p.D973H RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 973 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCAACCTGATCTATTCTTTCA 0.458000 10 67 0 0 0.006214 0 0 UNC119 9094 broad.mit.edu 37 17 26879509 26879509 + Nonsense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:26879509G>A ENST00000301032.4 - 1 140 c.67C>T c.(67-69)Cag>Tag p.Q23* UNC119_ENST00000335765.4_Nonsense_Mutation_p.Q23* NM_054035.2 NP_473376.1 Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 23 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCCACGCTCTGGCCCGAGGGC 0.751000 3 8 0 0 0.004672 0 0 ZNF696 79943 broad.mit.edu 37 8 144377992 144377992 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:144377992C>A ENST00000330143.3 + 3 556 c.147C>A c.(145-147)gcC>gcA p.A49A NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CGGAGCCTGCCGCAGAGGCAG 0.672000 2 3 0.004672 0.00485083 0.004672 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73169687 73169687 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:73169687C>T ENST00000286657.4 - 17 2407 c.2371G>A c.(2371-2373)Gac>Aac p.D791N NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 791 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTTCAATGTCATCTTCAATG 0.423000 21 97 0 0 0.008871 0 0 RELN 5649 broad.mit.edu 37 7 103322663 103322663 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:103322663C>T ENST00000424685.2 - 11 1348 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K RELN_ENST00000343529.5_Missense_Mutation_p.E397K|RELN_ENST00000428762.1_Missense_Mutation_p.E397K P78509 RELN_HUMAN reelin 397 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCGCTGCCTTCATTTCCATGG 0.458000 4 88 0 0 0.001984 0 0 GLI3 2737 broad.mit.edu 37 7 42187951 42187951 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:42187951C>T ENST00000395925.3 - 3 325 c.241G>A c.(241-243)Gag>Aag p.E81K GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 81 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GAGGCCCTCTCGTCACTCGAT 0.552000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 6 36 0 0 0.001168 0 0 DHRS9 10170 broad.mit.edu 37 2 169939948 169939948 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:169939948C>T ENST00000327239.4 + 6 1927 c.423C>T c.(421-423)ctC>ctT p.L141L DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Silent_p.L141L|DHRS9_ENST00000602501.1_Silent_p.L141L|DHRS9_ENST00000436483.2_Silent_p.L141L|DHRS9_ENST00000432060.2_Silent_p.L201L|DHRS9_ENST00000428522.1_Silent_p.L141L|DHRS9_ENST00000412271.1_Silent_p.L141L NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 141 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity p.L141L(1) breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TGTTTGGACTCATCAGTGTGA 0.488000 11 73 0 0 0.008291 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359356 64359356 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:64359356G>A ENST00000377574.1 + 1 1075 c.328G>A c.(328-330)Gag>Aag p.E110K SLC22A12_ENST00000377572.1_Missense_Mutation_p.E110K|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.E110K|SLC22A12_ENST00000336464.7_Missense_Mutation_p.E110K NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 110 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CAGCTGGAGCGAGGCCGACAC 0.677000 6 37 0 0 0.001168 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730228 37730228 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37730228C>G ENST00000330843.4 - 4 2104 c.2092G>C c.(2092-2094)Gaa>Caa p.E698Q RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 698 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CGCCCTGTTTCAGGCTGCTCT 0.527000 11 43 0 0 0.010729 0 0 PTPRC 5788 broad.mit.edu 37 1 198711037 198711037 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:198711037C>T ENST00000367376.2 + 24 2608 c.2437C>T c.(2437-2439)Cag>Tag p.Q813* PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q815*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q765*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q652*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q654* NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 813 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GACTCACATTCAGTTCACCAG 0.413000 3 32 0 0 0.004672 0 0 MRPL52 122704 broad.mit.edu 37 14 23299420 23299420 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:23299420C>T ENST00000355151.5 + 3 144 c.114C>T c.(112-114)tcC>tcT p.S38S MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000397505.2_Silent_p.S38S|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000397496.3_Silent_p.S37S|MRPL52_ENST00000432849.3_Silent_p.S37S|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000555536.1_5'UTR NM_178336.2|NM_180982.2|NM_181306.2 NP_848026.1|NP_851313.1|NP_851823.1 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 38 translation mitochondrial large ribosomal subunit structural constituent of ribosome all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CCAACCCCTCCGGCTACGGGC 0.597000 27 94 0 0 0.007291 0 0 GUF1 60558 broad.mit.edu 37 4 44680684 44680684 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:44680684C>T ENST00000281543.5 + 1 239 c.45C>T c.(43-45)ctC>ctT p.L15L GUF1_ENST00000506793.1_Intron NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 15 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 CACGCGCTCTCGCGCCACGAG 0.736000 3 9 0 0 0.004672 0 0 INSR 3643 broad.mit.edu 37 19 7125313 7125313 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:7125313C>G ENST00000341500.5 - 16 3242 c.3203G>C c.(3202-3204)gGc>gCc p.G1068A INSR_ENST00000302850.5_Missense_Mutation_p.G1080A NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1080 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGGTGAAGCCCTTCATGAC 0.607000 5 43 0 0 0.000602 0 0 SETD2 29072 broad.mit.edu 37 3 47162371 47162371 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:47162371G>A ENST00000409792.3 - 3 3797 c.3755C>T c.(3754-3756)tCa>tTa p.S1252L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1252 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAGCTCTTCTGATGAGTGCAA 0.453000 """N, F, S, Mis""" clear cell renal carcinoma 11 86 0 0 0.008291 0 0 NES 10763 broad.mit.edu 37 1 156640874 156640874 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:156640874C>T ENST00000368223.3 - 4 3238 c.3106G>A c.(3106-3108)Gag>Aag p.E1036K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1036 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGAGGCCCTCAGCCCCTCCC 0.667000 18 165 0 0 0.010504 0 0 ERBB3 2065 broad.mit.edu 37 12 56478817 56478817 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:56478817G>C ENST00000267101.3 + 3 713 c.273G>C c.(271-273)atG>atC p.M91I ERBB3_ENST00000415288.2_Missense_Mutation_p.M32I|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.M91I NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 91 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.M91I(1) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCGTGGCCATGAATGAATTCT 0.473000 33 83 0 0 0.012213 0 0 PSMD11 5717 broad.mit.edu 37 17 30807593 30807593 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:30807593C>T ENST00000261712.3 + 13 1476 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* PSMD11_ENST00000457654.2_Nonsense_Mutation_p.Q405* NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 405 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAAACAATTCAGAACATGAG 0.483000 4 78 0 0 0.009096 0 0 EDC3 80153 broad.mit.edu 37 15 74927826 74927826 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:74927826G>C ENST00000315127.4 - 6 1297 c.1116C>G c.(1114-1116)gtC>gtG p.V372V EDC3_ENST00000568176.1_Silent_p.V372V|EDC3_ENST00000426797.3_Silent_p.V372V NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 372 YjeF N-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CCAACATCTTGACAAAATTGG 0.522000 OREG0023287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 79 0 0 0.013537 0 0 NTN4 59277 broad.mit.edu 37 12 96104265 96104265 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:96104265G>C ENST00000343702.4 - 5 1582 c.1134C>G c.(1132-1134)ttC>ttG p.F378L NTN4_ENST00000553059.1_Missense_Mutation_p.F378L|NTN4_ENST00000344911.4_Missense_Mutation_p.F341L|NTN4_ENST00000538383.1_Missense_Mutation_p.F341L NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 378 Laminin EGF-like 2. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GGTCACGATAGAAGCCTGGCT 0.483000 13 52 0 0 0.013537 0 0 PZP 5858 broad.mit.edu 37 12 9353646 9353646 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:9353646C>G ENST00000261336.2 - 6 540 c.512G>C c.(511-513)aGa>aCa p.R171T PZP_ENST00000381997.2_Missense_Mutation_p.R40T NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AATTCGATTTCTTCTTGGGTT 0.438000 13 60 0 0 0.003163 0 0 PTPN21 11099 broad.mit.edu 37 14 88945434 88945434 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:88945434C>T ENST00000556564.1 - 13 2625 c.2341G>A c.(2341-2343)Gca>Aca p.A781T PTPN21_ENST00000328736.3_Missense_Mutation_p.A781T NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 781 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGGGCCTCTGCGGTCGTGCGG 0.697000 7 45 0 0 0.001984 0 0 CACNG5 27091 broad.mit.edu 37 17 64880683 64880683 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:64880683G>A ENST00000533854.1 + 5 712 c.475G>A c.(475-477)Gag>Aag p.E159K CACNG5_ENST00000169565.3_Missense_Mutation_p.E159K|CACNG5_ENST00000307139.3_Missense_Mutation_p.E159K Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 159 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CATCAACGATGAGATGCTCAA 0.562000 10 71 0 0 0.008291 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 38 0 0 0.000602 0 0 ABRA 137735 broad.mit.edu 37 8 107782327 107782327 + Missense_Mutation SNP C C G rs148182297 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:107782327C>G ENST00000311955.3 - 1 146 c.92G>C c.(91-93)cGa>cCa p.R31P NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 31 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTGCCAACCTCGGGCCAAGCT 0.647000 8 83 0 0 0.008291 0 0 PHEX 5251 broad.mit.edu 37 X 22056609 22056609 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:22056609C>T ENST00000379374.4 + 2 706 c.141C>T c.(139-141)ctC>ctT p.L47L PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Silent_p.L47L NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 47 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TCTTAAGTCTCCAAGCTAAAC 0.453000 40 176 0 0 0.007835 0 0 GOLGA1 2800 broad.mit.edu 37 9 127693663 127693663 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:127693663C>G ENST00000373555.4 - 4 491 c.158G>C c.(157-159)aGa>aCa p.R53T NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 53 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 AAGATCTTCTCTGGAGCTGCT 0.433000 19 87 0 0 0.010504 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768941 31768941 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:31768941C>T ENST00000240587.4 - 2 2085 c.1758G>A c.(1756-1758)acG>acA p.T586T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 586 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCTGGTTTTTCGTCGGGGAGA 0.552000 21 114 0 0 0.012319 0 0 PHF3 23469 broad.mit.edu 37 6 64421841 64421841 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:64421841C>T ENST00000262043.3 + 16 4697 c.4357C>T c.(4357-4359)Caa>Taa p.Q1453* PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1453* Q92576 PHF3_HUMAN PHD finger protein 3 1453 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTGGGAGAATCAACCTACTAC 0.448000 17 53 0 0 0.004990 0 0 LRRC3 81543 broad.mit.edu 37 21 45876666 45876666 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:45876666G>A ENST00000291592.4 + 2 456 c.139G>A c.(139-141)Gct>Act p.A47T NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 47 LRRNT. integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) AGGGGCTGTGGCTGTCTTCTG 0.667000 7 34 0 0 0.001984 0 0 IL12RB2 3595 broad.mit.edu 37 1 67792462 67792462 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:67792462G>A ENST00000262345.1 + 4 1049 c.409G>A c.(409-411)Gaa>Aaa p.E137K IL12RB2_ENST00000371000.1_Missense_Mutation_p.E137K|IL12RB2_ENST00000544434.1_Missense_Mutation_p.E137K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.E137K NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 137 Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 ACAGAAGGGAGAACAGGGGAC 0.428000 10 67 0 0 0.008291 0 0 PGM2 55276 broad.mit.edu 37 4 37848724 37848724 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:37848724C>T ENST00000381967.4 + 9 1280 c.1180C>T c.(1180-1182)Cat>Tat p.H394Y PGM2_ENST00000537241.1_Missense_Mutation_p.H234Y|PGM2_ENST00000544359.1_Missense_Mutation_p.H255Y NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 394 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 GGAAGGTTTTCATTTTGAGGT 0.448000 28 79 0 0 0.007291 0 0 FRMD8 83786 broad.mit.edu 37 11 65168229 65168229 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65168229C>T ENST00000317568.5 + 9 1125 c.962C>T c.(961-963)tCg>tTg p.S321L FRMD8_ENST00000416776.2_Missense_Mutation_p.S287L|FRMD8_ENST00000355991.5_Missense_Mutation_p.S265L NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 321 FERM. cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 CAGGAGCTGTCGTGGGACCAC 0.647000 8 44 0 0 0.003080 0 0 EID2 163126 broad.mit.edu 37 19 40030401 40030401 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:40030401C>T ENST00000390658.2 - 1 469 c.319G>A c.(319-321)Gag>Aag p.E107K NM_153232.3 NP_694964.3 Q8N6I1 EID2_HUMAN EP300 interacting inhibitor of differentiation 2 107 Ala-rich. cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding large_intestine(2)|lung(1)|urinary_tract(1) 4 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CGGGCGACCTCCGCCATCCGG 0.756000 6 90 0 0 0.001168 0 0 RNF17 56163 broad.mit.edu 37 13 25428222 25428222 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:25428222G>C ENST00000255324.5 + 25 3602 c.3550G>C c.(3550-3552)Gag>Cag p.E1184Q RNF17_ENST00000339524.3_Missense_Mutation_p.E236Q|RNF17_ENST00000381921.1_Missense_Mutation_p.E1184Q NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1184 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAACGTATTTGAGGCAACAGT 0.393000 7 38 0 0 0.001984 0 0 TMOD2 29767 broad.mit.edu 37 15 52074980 52074980 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:52074980G>A ENST00000249700.4 + 7 908 c.687G>A c.(685-687)aaG>aaA p.K229K TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.K185K NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 229 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) CTCACGTGAAGAAGTTCAGCC 0.433000 5 159 0 0 0.000602 0 0 KIAA1009 22832 broad.mit.edu 37 6 84925148 84925148 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:84925148C>T ENST00000403245.3 - 5 469 c.355G>A c.(355-357)Gga>Aga p.G119R KIAA1009_ENST00000257766.4_Missense_Mutation_p.G43R NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 119 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AATCCCACTCCGAGACTACTA 0.333000 5 18 0 0 0.001984 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65242076 65242076 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:65242076C>G ENST00000380230.3 + 14 1395 c.1366C>G c.(1366-1368)Cag>Gag p.Q456E ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q424E|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q333E|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q456E NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 456 Death. signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CAGGAGCTATCAGGAGCACGG 0.622000 3 79 0 0 0.004672 0 0 C6orf15 29113 broad.mit.edu 37 6 31079483 31079483 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:31079483C>T ENST00000259870.3 - 2 656 c.653G>A c.(652-654)tGg>tAg p.W218* NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 218 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 TCCACCTCCCCAGGACACACT 0.612000 8 98 0 0 0.004482 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146056 42146056 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:42146056C>A ENST00000394237.1 + 4 1216 c.240C>A c.(238-240)ctC>ctA p.L80L GUCA1A_ENST00000053469.4_Silent_p.L80L|GUCA1A_ENST00000541991.1_Silent_p.L80L|GUCA1A_ENST00000372958.1_Silent_p.L80L P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 80 EF-hand 2. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGCAGCGCTCAGCTTGGTCC 0.622000 28 111 2.12542e-12 2.30033e-12 0.006320 1 0 TLN2 83660 broad.mit.edu 37 15 62944237 62944237 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:62944237C>G ENST00000561311.1 + 5 498 c.268C>G c.(268-270)Cag>Gag p.Q90E TLN2_ENST00000306829.6_Missense_Mutation_p.Q90E Q9Y4G6 TLN2_HUMAN talin 2 90 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACAGAGACCTCAGAAAATCCG 0.403000 10 36 0 0 0.006214 0 0 ZNF496 84838 broad.mit.edu 37 1 247464049 247464049 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:247464049C>T ENST00000294753.4 - 9 2000 c.1536G>A c.(1534-1536)ccG>ccA p.P512P ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.P548P NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 512 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CGTTTTCCAGCGGCTCTTTGG 0.642000 4 110 0 0 0.009096 0 0 STAT1 6772 broad.mit.edu 37 2 191839600 191839600 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:191839600C>G ENST00000361099.3 - 24 2581 c.2194G>C c.(2194-2196)Gac>Cac p.D732H STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.D732H NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 732 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GACACCTCGTCAAACTCCTCA 0.493000 7 40 0 0 0.001984 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257106 69257106 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:69257106G>C ENST00000439696.2 - 2 462 c.161C>G c.(160-162)tCa>tGa p.S54* ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S54* NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 54 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CAGGGTGACTGAGTGCCTCCG 0.632000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 22 0 0 0.008291 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125367461 125367461 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:125367461C>T ENST00000431078.1 + 12 2201 c.1837C>T c.(1837-1839)Cca>Tca p.P613S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 613 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGCAGCGGCCCACTGGGACC 0.522000 5 66 0 0 0.000602 0 0 FXR1 8087 broad.mit.edu 37 3 180693957 180693957 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:180693957C>T ENST00000357559.4 + 17 2127 c.1743C>T c.(1741-1743)aaC>aaT p.N581N FXR1_ENST00000491062.1_3'UTR|FXR1_ENST00000445140.2_3'UTR|FXR1_ENST00000305586.7_Silent_p.N496N|FXR1_ENST00000468861.1_3'UTR|FXR1_ENST00000480918.1_Silent_p.N568N NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 581 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AGGCAATAAACGGCCCAACTA 0.393000 18 44 0 0 0.004990 0 0 PTPRB 5787 broad.mit.edu 37 12 70970178 70970178 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:70970178G>A ENST00000334414.6 - 11 2870 c.2826C>T c.(2824-2826)ttC>ttT p.F942F PTPRB_ENST00000550857.1_Silent_p.F634F|PTPRB_ENST00000261266.5_Silent_p.F724F|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Silent_p.F724F|PTPRB_ENST00000551525.1_Silent_p.F941F|PTPRB_ENST00000451516.2_Silent_p.F634F NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 724 Fibronectin type-III 11. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCTTGGCTGAAGGAGTGAT 0.512000 4 20 0 0 0.000602 0 0 NAP1L1 4673 broad.mit.edu 37 12 76447602 76447602 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:76447602C>G ENST00000261182.8 - 9 1204 c.718G>C c.(718-720)Gat>Cat p.D240H NAP1L1_ENST00000547773.1_Missense_Mutation_p.D177H|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D57H|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D198H|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D199H|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D251H|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D172H|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D240H|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D240H|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D240H|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D57H NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 240 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) TCAGAATCATCTGGTTCTGAC 0.348000 17 33 0 0 0.004990 0 0 INPPL1 3636 broad.mit.edu 37 11 71946359 71946359 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:71946359C>G ENST00000298229.2 + 23 2727 c.2523C>G c.(2521-2523)ctC>ctG p.L841L INPPL1_ENST00000538751.1_Silent_p.L599L|INPPL1_ENST00000541756.1_Silent_p.L599L NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 841 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGGTTGCACTCAAATCCATGA 0.572000 20 99 0 0 0.008871 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632625 205632625 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:205632625C>T ENST00000367145.3 - 3 589 c.294G>A c.(292-294)ctG>ctA p.L98L NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 98 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GAAAGAGGCTCAGCAGGATGC 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate 6 30 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179413733 179413733 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:179413733C>T ENST00000589042.1 - 339 92844 c.92620G>A c.(92620-92622)Gag>Aag p.E30874K TTN_ENST00000359218.5_Missense_Mutation_p.E21934K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22001K|TTN_ENST00000591111.1_Missense_Mutation_p.E29233K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21809K|TTN_ENST00000342992.6_Missense_Mutation_p.E28306K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29233 Fibronectin type-III 125. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACATGCCTCTGCATTCACC 0.423000 18 83 0 0 0.007413 0 0 ANKRD28 23243 broad.mit.edu 37 3 15726759 15726759 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:15726759G>A ENST00000399451.2 - 21 2640 c.2273C>T c.(2272-2274)aCg>aTg p.T758M ANKRD28_ENST00000383777.1_Missense_Mutation_p.T791M|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 758 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTGAAGTGCCGTATATCCATG 0.423000 4 162 0 0 0.009096 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063309 59063309 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:59063309C>G ENST00000600118.1 - 4 930 c.505G>C c.(505-507)Gat>Cat p.D169H CHMP2A_ENST00000312547.2_Missense_Mutation_p.D169H|CHMP2A_ENST00000601220.1_Missense_Mutation_p.D169H O43633 CHM2A_HUMAN charged multivesicular body protein 2A 169 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCAGCTCATCCAGAACCTGG 0.577000 21 44 0 0 0.008871 0 0 CDK14 5218 broad.mit.edu 37 7 90741917 90741917 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:90741917G>C ENST00000406263.1 + 12 1519 c.1077G>C c.(1075-1077)aaG>aaC p.K359N CDK14_ENST00000265741.3_Missense_Mutation_p.K387N|CDK14_ENST00000380050.3_Missense_Mutation_p.K405N|CDK14_ENST00000436577.2_Missense_Mutation_p.K276N O94921 CDK14_HUMAN cyclin-dependent kinase 14 405 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GTTCCCCAAAGAACAGACTGT 0.502000 4 112 0 0 0.009096 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721778 135721778 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:135721778C>G ENST00000264977.3 + 2 2055 c.1438C>G c.(1438-1440)Cta>Gta p.L480V PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 480 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATTTGTTAATCTACCTAAGGA 0.338000 11 58 0 0 0.008291 0 0 UBE4B 10277 broad.mit.edu 37 1 10186932 10186932 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:10186932C>G ENST00000377157.3 + 10 1961 c.900C>G c.(898-900)ctC>ctG p.L300L UBE4B_ENST00000343090.6_Silent_p.L545L|UBE4B_ENST00000253251.8_Silent_p.L416L|UBE4B_ENST00000475795.1_3'UTR NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 545 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AATACCCCCTCATGGTAAAAC 0.343000 12 48 0 0 0.013537 0 0 CNST 163882 broad.mit.edu 37 1 246797846 246797846 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:246797846G>A ENST00000366513.4 + 6 1044 c.775G>A c.(775-777)Gaa>Aaa p.E259K CNST_ENST00000366512.3_Missense_Mutation_p.E259K|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 259 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 ATTTAATGGTGAAGATTTTGA 0.333000 6 52 0 0 0.001168 0 0 IBTK 25998 broad.mit.edu 37 6 82891624 82891624 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:82891624C>G ENST00000306270.7 - 26 4246 c.3697G>C c.(3697-3699)Gaa>Caa p.E1233Q IBTK_ENST00000503631.1_Missense_Mutation_p.E1032Q|IBTK_ENST00000510291.1_Missense_Mutation_p.E1218Q NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 1233 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAGAATTTTCAATTCCTTTA 0.308000 3 27 0 0 0.004672 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865104 140865104 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:140865104G>C ENST00000306593.1 + 1 364 c.364G>C c.(364-366)Gag>Cag p.E122Q PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGAGGTAGAGATCGTAGA 0.582000 5 83 0 0 0.003080 0 0 LINGO4 339398 broad.mit.edu 37 1 151773402 151773402 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:151773402G>C ENST00000368820.3 - 2 2716 c.1779C>G c.(1777-1779)ttC>ttG p.F593L NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 593 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAAGGTCAGAAGAGCTTGG 0.547000 17 59 0 0 0.004007 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635437 122635437 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:122635437G>A ENST00000249284.2 - 1 317 c.252C>T c.(250-252)acC>acT p.T84T NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 84 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAAATTCCCAGGTGATTGTTA 0.398000 7 30 0 0 0.001984 0 0 RFPL1 5988 broad.mit.edu 37 22 29835036 29835036 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:29835036C>G ENST00000354373.2 + 1 465 c.256C>G c.(256-258)Cag>Gag p.Q86E RFPL1S_ENST00000461286.3_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 86 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CATGGTCTCTCAGAAGAACAA 0.522000 9 111 0 0 0.010729 0 0 TNNT1 7138 broad.mit.edu 37 19 55652318 55652318 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:55652318C>T ENST00000588981.1 - 9 524 c.320G>A c.(319-321)cGg>cAg p.R107Q TNNT1_ENST00000585321.2_Missense_Mutation_p.R37Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R96Q|TNNT1_ENST00000587465.2_Missense_Mutation_p.R37Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R96Q|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Missense_Mutation_p.R96Q|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000291901.8_Missense_Mutation_p.R107Q NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 107 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TCTCTCTGACCGGCGCCGCTC 0.602000 OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 36 0 0 0.009096 0 0 TEX14 56155 broad.mit.edu 37 17 56690847 56690847 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:56690847C>G ENST00000389934.3 - 9 1057 c.940G>C c.(940-942)Gag>Cag p.E314Q TEX14_ENST00000349033.5_Missense_Mutation_p.E314Q|TEX14_ENST00000240361.8_Missense_Mutation_p.E320Q NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 320 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGTTTTCTCTAGGTCCTGG 0.498000 30 57 0 0 0.012213 0 0 PCDH12 51294 broad.mit.edu 37 5 141336615 141336615 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:141336615C>T ENST00000231484.3 - 1 2012 c.802G>A c.(802-804)Gcc>Acc p.A268T NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 268 Cadherin 3. neuron recognition integral to plasma membrane calcium ion binding p.A268T(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTCTGTGGCGGTCAGTTTT 0.527000 25 35 0 0 0.004656 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011463 105011463 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:105011463G>C ENST00000372582.1 + 11 2626 c.1870G>C c.(1870-1872)Gag>Cag p.E624Q IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E624Q NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 624 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTATAAACATGAGATACCAGC 0.478000 9 118 0 0 0.004482 0 0 ADCY2 108 broad.mit.edu 37 5 7743786 7743786 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:7743786C>T ENST00000338316.4 + 15 1966 c.1877C>T c.(1876-1878)tCc>tTc p.S626F ADCY2_ENST00000537121.1_Missense_Mutation_p.S446F|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 626 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGTAGAACGTCCGTCCTGGGC 0.493000 42 194 0 0 0.013114 0 0 STK16 8576 broad.mit.edu 37 2 220112206 220112206 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:220112206G>C ENST00000409638.3 + 5 682 c.510G>C c.(508-510)atG>atC p.M170I STK16_ENST00000409260.1_Missense_Mutation_p.M215I|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000396738.2_Missense_Mutation_p.M170I|STK16_ENST00000409743.1_Missense_Mutation_p.M170I|STK16_ENST00000409516.3_Missense_Mutation_p.M52I NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 170 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGGTTCCATGAATCAAGCAT 0.507000 29 143 0 0 0.008361 0 0 GANC 2595 broad.mit.edu 37 15 42632035 42632035 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:42632035G>C ENST00000318010.8 + 17 2252 c.2012G>C c.(2011-2013)aGa>aCa p.R671T NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 671 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GAAGCCATCAGAGAGCGCTAT 0.542000 6 41 0 0 0.001168 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610501 38610501 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:38610501G>A ENST00000222345.6 + 9 3356 c.2847G>A c.(2845-2847)agG>agA p.R949R NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 949 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGACATAAGGGAGATAGTGC 0.532000 7 115 0 0 0.003080 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437671 201437671 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201437671C>T ENST00000367311.3 - 1 641 c.244G>A c.(244-246)Gag>Aag p.E82K PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K|PHLDA3_ENST00000485436.1_5'UTR NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 82 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 AAGTCGATCTCGCCGCCCCCT 0.652000 16 70 0 0 0.006122 0 0 GH1 2688 broad.mit.edu 37 17 61995219 61995219 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:61995219G>A ENST00000323322.5 - 4 399 c.357C>T c.(355-357)ctC>ctT p.L119L GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Silent_p.L79L|GH1_ENST00000458650.2_Silent_p.L104L|CSHL1_ENST00000392824.4_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 119 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 AGACACTCCTGAGGAACTGCA 0.607000 13 80 0 0 0.001855 0 0 IKBKE 9641 broad.mit.edu 37 1 206653236 206653236 + Missense_Mutation SNP G G A rs143491598 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:206653236G>A ENST00000367120.3 + 11 1580 c.1207G>A c.(1207-1209)Gtc>Atc p.V403I IKBKE_ENST00000537984.1_Missense_Mutation_p.V318I NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 403 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) CCCCAAGTTCGTCCCCAAAGT 0.592000 OREG0014170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 46 0 0 0.009096 0 0 LOC344967 344967 broad.mit.edu 37 4 40045292 40045292 + RNA SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:40045292C>G ENST00000381811.2 - 0 857 NR_027277.1 TCCATGCGCTCCAGCTTCTGG 0.587000 6 12 0 0 0.001984 0 0 NLRC5 84166 broad.mit.edu 37 16 57059987 57059987 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:57059987C>A ENST00000436936.1 + 6 1357 c.1132C>A c.(1132-1134)Cac>Aac p.H378N NLRC5_ENST00000308149.7_Missense_Mutation_p.H378N|NLRC5_ENST00000539144.1_Missense_Mutation_p.H378N|NLRC5_ENST00000262510.6_Missense_Mutation_p.H378N Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 378 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) ATATGTGAATCACTTCTTCAG 0.612000 19 115 1.01871e-10 1.0998e-10 0.008871 1 0 RUNX1T1 862 broad.mit.edu 37 8 92972521 92972521 + Silent SNP C C T rs144186445 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:92972521C>T ENST00000523629.1 - 12 2218 c.1764G>A c.(1762-1764)ccG>ccA p.P588P RUNX1T1_ENST00000396218.1_Silent_p.P561P|RUNX1T1_ENST00000360348.2_Silent_p.P551P|RUNX1T1_ENST00000422361.2_Silent_p.P551P|RUNX1T1_ENST00000518844.1_Silent_p.P561P|RUNX1T1_ENST00000520724.1_Silent_p.P551P|RUNX1T1_ENST00000265814.3_Silent_p.P588P|RUNX1T1_ENST00000436581.2_Silent_p.P599P 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) 588 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) TGGTTGACCTCGGAGTGGCTG 0.612000 4 12 0 0 0.009096 0 0 SCAI 286205 broad.mit.edu 37 9 127734000 127734000 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:127734000C>T ENST00000336505.6 - 16 1581 c.1523G>A c.(1522-1524)cGa>cAa p.R508Q SCAI_ENST00000373549.4_Missense_Mutation_p.R531Q NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 GTTGATTTTTCGAAGATATTC 0.408000 24 96 0 0 0.003954 0 0 PUM1 9698 broad.mit.edu 37 1 31437555 31437555 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:31437555G>A ENST00000373747.3 - 14 2391 c.2292C>T c.(2290-2292)ctC>ctT p.L764L PUM1_ENST00000373741.4_Silent_p.L799L|PUM1_ENST00000257075.5_Silent_p.L763L|PUM1_ENST00000424085.2_Silent_p.L521L|PUM1_ENST00000423018.2_Silent_p.L619L|PUM1_ENST00000373742.2_Silent_p.L704L|PUM1_ENST00000440538.2_Silent_p.L737L|PUM1_ENST00000426105.2_Silent_p.L763L NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 763 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CATGTGAAGAGAGGGAAGGAG 0.493000 29 176 0 0 0.009535 0 0 ALOX12B 242 broad.mit.edu 37 17 7983723 7983723 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:7983723G>C ENST00000399413.3 + 2 644 c.404G>C c.(403-405)cGg>cCg p.R135P ALOX12B_ENST00000319144.4_Intron endometrium(2) 2 GGCAGGTGGCGGGGCCGCCCC 0.617000 OREG0024153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 46 0 0 0.006214 0 0 MBOAT1 154141 broad.mit.edu 37 6 20126922 20126922 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:20126922G>A ENST00000541730.1 - 6 688 c.93C>T c.(91-93)ccC>ccT p.P31P MBOAT1_ENST00000536798.1_Silent_p.P180P|MBOAT1_ENST00000324607.7_Silent_p.P180P Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 180 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) CCAAAAAAGAGGGTTTCACTC 0.338000 OREG0017224 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 209 0 0 0.003080 0 0 CNKSR3 154043 broad.mit.edu 37 6 154754641 154754641 + Splice_Site SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:154754641C>G ENST00000607772.1 - 5 1052 c.508G>C c.(508-510)Gat>Cat p.D170H CNKSR3_ENST00000479339.1_Splice_Site_p.D90H|CNKSR3_ENST00000433165.2_5'UTR NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 170 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ACAAAGCAATCCTAAAGAAGG 0.368000 3 7 0 0 0.004672 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558970 113558970 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:113558970C>T ENST00000284601.3 - 1 150 c.82G>A c.(82-84)Gat>Aat p.D28N NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 28 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACTTCTTCATCTTCACAAAGA 0.398000 21 56 0 0 0.014323 0 0 EIF3A 8661 broad.mit.edu 37 10 120795652 120795652 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:120795652C>T ENST00000369144.3 - 22 4175 c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K EIF3A_ENST00000541549.1_Missense_Mutation_p.E1316K NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1350 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TTCTCTTTTTCACCTTCTCTT 0.507000 17 45 0 0 0.004990 0 0 SOGA3 387104 broad.mit.edu 37 6 127836879 127836879 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:127836879G>C ENST00000556132.1 - 2 1745 c.881C>G c.(880-882)tCt>tGt p.S294C SOGA3_ENST00000368268.2_Missense_Mutation_p.S294C|SOGA3_ENST00000465909.2_Missense_Mutation_p.S294C|SOGA3_ENST00000481848.2_Missense_Mutation_p.S294C|SOGA3_ENST00000525778.1_Missense_Mutation_p.S294C NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 294 integral to membrane AGGGGGGCCAGACACCGGGGA 0.741000 4 23 0 0 0.009096 0 0 CPD 1362 broad.mit.edu 37 17 28749923 28749923 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:28749923G>C ENST00000225719.4 + 5 1615 c.1539G>C c.(1537-1539)ttG>ttC p.L513F CPD_ENST00000543464.2_Missense_Mutation_p.L266F NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 513 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.L513F(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AAATCTTCTTGAGAAGGTTTG 0.393000 38 76 0 0 0.008740 0 0 GPR110 266977 broad.mit.edu 37 6 46977848 46977848 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:46977848G>A ENST00000371253.2 - 11 1538 c.1323C>T c.(1321-1323)ctC>ctT p.L441L GPR110_ENST00000283297.5_Silent_p.L244L|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 441 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 AACCCCTTTTGAGTTGGCTTT 0.438000 10 70 0 0 0.008291 0 0 CD7 924 broad.mit.edu 37 17 80274695 80274695 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:80274695C>T ENST00000584284.1 - 2 326 c.245G>A c.(244-246)aGa>aAa p.R82K CD7_ENST00000312648.3_Missense_Mutation_p.R82K|CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR P09564 CD7_HUMAN CD7 molecule 82 Ig-like. immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CCGGAACCGTCTGTCCGTAGT 0.637000 37 84 0 0 0.003271 0 0 TTLL7 79739 broad.mit.edu 37 1 84403570 84403570 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:84403570G>C ENST00000260505.8 - 8 1230 c.853C>G c.(853-855)Caa>Gaa p.Q285E TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 285 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ACATCATGTTGATTTGCTTGA 0.373000 8 100 0 0 0.003080 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146259 10146259 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:10146259C>T ENST00000450660.2 - 2 416 c.200G>A c.(199-201)gGa>gAa p.G67E FANCD2OS_ENST00000524279.1_Missense_Mutation_p.G67E NM_001164839.1 NP_001158311.1 FANCD2 opposite strand GGGACTCACTCCAGATTCCAG 0.557000 14 49 0 0 0.001855 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27844717 27844717 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:27844717G>A ENST00000318304.8 + 27 3022 c.2739G>A c.(2737-2739)ttG>ttA p.L913L PPFIBP1_ENST00000542629.1_Silent_p.L882L|PPFIBP1_ENST00000537927.1_Silent_p.L760L|PPFIBP1_ENST00000228425.6_Silent_p.L907L NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 913 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TTGGGAATTTGAGAAAGAAGA 0.353000 12 63 0 0 0.013537 0 0 GPR50 9248 broad.mit.edu 37 X 150349383 150349383 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:150349383C>G ENST00000218316.3 + 2 1397 c.1328C>G c.(1327-1329)tCt>tGt p.S443C NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 443 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) AAGCCTGCCTCTGTCCATTTC 0.557000 8 371 0 0 0.003080 0 0 VMP1 81671 broad.mit.edu 37 17 57917167 57917167 + Silent SNP C C T rs111262775 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:57917167C>T ENST00000262291.4 + 12 1426 c.1116C>T c.(1114-1116)gtC>gtT p.V372V VMP1_ENST00000539763.1_Silent_p.V180V|VMP1_ENST00000536180.1_Silent_p.V275V|VMP1_ENST00000537567.1_Silent_p.V238V|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000545362.1_Silent_p.V316V NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 372 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 AAAAGTTGGTCGTTGTCATGG 0.388000 32 195 0 0 0.013726 0 0 ANO9 338440 broad.mit.edu 37 11 431718 431718 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:431718C>T ENST00000332826.6 - 7 599 c.515G>A c.(514-516)cGg>cAg p.R172Q NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 172 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TGGCTGCTCCCGGAACATGTG 0.667000 5 17 0 0 0.000602 0 0 MAN1C1 57134 broad.mit.edu 37 1 26104650 26104650 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:26104650G>A ENST00000374332.4 + 9 1642 c.1312G>A c.(1312-1314)Gag>Aag p.E438K MAN1C1_ENST00000263979.3_Missense_Mutation_p.E258K|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E209K NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 438 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CTACATTGCCGAGTGGCGAGG 0.627000 4 62 0 0 0.001168 0 0 ARID1A 8289 broad.mit.edu 37 1 27056160 27056160 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:27056160C>T ENST00000324856.7 + 2 1527 c.1156C>T c.(1156-1158)Cag>Tag p.Q386* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q3*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q386* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 386 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCAATGGATCAGATGGGCAA 0.498000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 27 91 0 0 0.008361 0 0 KIF1A 547 broad.mit.edu 37 2 241706751 241706751 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:241706751G>C ENST00000498729.2 - 18 1755 c.1509C>G c.(1507-1509)ctC>ctG p.L503L KIF1A_ENST00000320389.7_Silent_p.L494L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 494 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCAGGTTGACGAGGTGTGGTG 0.607000 3 19 0 0 0.009096 0 0 CCDC53 51019 broad.mit.edu 37 12 102455053 102455053 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:102455053G>A ENST00000240079.6 - 2 284 c.123C>T c.(121-123)ctC>ctT p.L41L CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.L41L NM_016053.2 NP_057137.1 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 41 WASH complex protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 AAAAGCGGTTGAGGAACTGTA 0.438000 11 34 0 0 0.002450 0 0 TRIM63 84676 broad.mit.edu 37 1 26387813 26387813 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:26387813C>T ENST00000374272.3 - 3 483 c.345G>A c.(343-345)caG>caA p.Q115Q TRIM63_ENST00000483052.1_5'UTR NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 115 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GACTGCCCTTCTGCAGCGGCC 0.577000 3 66 0 0 0.009096 0 0 LAT 27040 broad.mit.edu 37 16 28997739 28997739 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:28997739G>A ENST00000395456.2 + 5 604 c.282G>A c.(280-282)acG>acA p.T94T RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Silent_p.T93T|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000360872.5_Silent_p.T94T|LAT_ENST00000395461.3_Silent_p.T130T|LAT_ENST00000564277.1_Silent_p.T93T|LAT_ENST00000566177.1_Silent_p.T93T|LAT_ENST00000354453.4_Intron NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 94 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) CCCACCGGACGCCATCTTCCC 0.627000 29 67 0 0 0.009535 0 0 ZNF681 148213 broad.mit.edu 37 19 23938261 23938261 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23938261C>G ENST00000402377.3 - 2 237 c.96G>C c.(94-96)gtG>gtC p.V32V ZNF681_ENST00000395385.3_Intron NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCTAACATCACATTCCTAT 0.358000 17 95 0 0 0.007413 0 0 MTOR 2475 broad.mit.edu 37 1 11297958 11297958 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:11297958C>T ENST00000361445.4 - 13 2226 c.2150G>A c.(2149-2151)cGa>cAa p.R717Q NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 717 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.R717L(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCTACTGAGTCGGCCCACAGT 0.582000 25 57 0 0 0.005443 0 0 SP100 6672 broad.mit.edu 37 2 231406036 231406036 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:231406036G>C ENST00000340126.4 + 27 2383 c.2352G>C c.(2350-2352)ttG>ttC p.L784F AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 0 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCCTCCTCTTGAAGGTCTACT 0.388000 8 45 0 0 0.008291 0 0 ZNF329 79673 broad.mit.edu 37 19 58640693 58640693 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:58640693G>C ENST00000598312.1 - 4 411 c.178C>G c.(178-180)Cag>Gag p.Q60E ZNF329_ENST00000358067.4_Missense_Mutation_p.Q60E NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ATTGCTTCCTGAGTCCCTGGT 0.488000 3 120 0 0 0.004672 0 0 MURC 347273 broad.mit.edu 37 9 103348453 103348453 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:103348453G>A ENST00000307584.5 + 2 880 c.815G>A c.(814-816)cGc>cAc p.R272H NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 272 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) TTTAAGATGCGCAGCCTCAGG 0.537000 25 104 0 0 0.006320 0 0 SCFD2 152579 broad.mit.edu 37 4 53751964 53751964 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:53751964C>T ENST00000401642.3 - 8 2045 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K SCFD2_ENST00000388940.4_Missense_Mutation_p.E593K NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 638 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATTTTCACTTCAGAGACTGTG 0.498000 15 42 0 0 0.003163 0 0 PDZRN4 29951 broad.mit.edu 37 12 41587902 41587902 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:41587902C>T ENST00000402685.2 + 3 763 c.755C>T c.(754-756)tCg>tTg p.S252L NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 252 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAGGAACATCGACTGAAGGA 0.318000 4 29 0 0 0.009096 0 0 HSH2D 84941 broad.mit.edu 37 19 16268238 16268238 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:16268238C>T ENST00000253680.6 + 9 1223 c.692C>T c.(691-693)tCg>tTg p.S231L HSH2D_ENST00000588246.1_Silent_p.V231V|HSH2D_ENST00000593154.2_Silent_p.V231V|HSH2D_ENST00000397372.4_Missense_Mutation_p.S141L Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 231 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 GTGAACTTGTCGTCACTCTTG 0.602000 8 74 0 0 0.003080 0 0 ABCA8 10351 broad.mit.edu 37 17 66872823 66872823 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:66872823C>T ENST00000269080.2 - 32 4238 c.4101G>A c.(4099-4101)ctG>ctA p.L1367L ABCA8_ENST00000430352.2_Silent_p.L1407L|ABCA8_ENST00000586539.1_Silent_p.L1407L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1367 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCTGGTCCTGCAGCTTGAGCG 0.498000 22 75 0 0 0.003330 0 0 KLB 152831 broad.mit.edu 37 4 39448977 39448977 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:39448977G>C ENST00000257408.4 + 4 2728 c.2631G>C c.(2629-2631)cgG>cgC p.R877R NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 877 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GGTGGGTCCGGAGGAACTACG 0.622000 20 73 0 0 0.008871 0 0 APBB1 322 broad.mit.edu 37 11 6432324 6432324 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6432324C>T ENST00000389906.2 - 2 353 c.254G>A c.(253-255)cGt>cAt p.R85H APBB1_ENST00000299402.6_Missense_Mutation_p.R85H|APBB1_ENST00000609360.1_Missense_Mutation_p.R85H|APBB1_ENST00000311051.3_Missense_Mutation_p.R85H O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 85 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ATTCTGGTCACGGTGGGCCGT 0.652000 29 135 0 0 0.008361 0 0 TP53 7157 broad.mit.edu 37 17 7578513 7578513 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:7578513C>G ENST00000420246.2 - 5 549 c.417G>C c.(415-417)aaG>aaC p.K139N TP53_ENST00000413465.2_Missense_Mutation_p.K139N|TP53_ENST00000359597.4_Missense_Mutation_p.K139N|TP53_ENST00000445888.2_Missense_Mutation_p.K139N|TP53_ENST00000269305.4_Missense_Mutation_p.K139N|TP53_ENST00000455263.2_Missense_Mutation_p.K139N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 139 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K139N(9)|p.0?(8)|p.K139K(7)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K139fs*9(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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) CAGGGCAGGTCTTGGCCAGTT 0.567000 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) 41 12 0 0 0.013114 0 0 GANC 2595 broad.mit.edu 37 15 42632010 42632010 + Missense_Mutation SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:42632010A>C ENST00000318010.8 + 17 2227 c.1987A>C c.(1987-1989)Acc>Ccc p.T663P NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 663 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGAGGAACACACCCGACTCAT 0.572000 5 41 0 0 0.001168 0 0 TTC9 23508 broad.mit.edu 37 14 71137855 71137855 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:71137855G>C ENST00000256367.2 + 3 995 c.652G>C c.(652-654)Gaa>Caa p.E218Q NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 218 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) CTCCCAGAGAGAAAAAGAAGC 0.557000 7 28 0 0 0.001984 0 0 LRP1 4035 broad.mit.edu 37 12 57556275 57556275 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:57556275G>A ENST00000243077.3 + 14 2844 c.2378G>A c.(2377-2379)cGa>cAa p.R793Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 793 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) TTTGAGATCCGAATGTATGAT 0.607000 7 77 0 0 0.001984 0 0 ADAM2 2515 broad.mit.edu 37 8 39613416 39613416 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:39613416C>G ENST00000265708.4 - 16 1731 c.1628G>C c.(1627-1629)gGa>gCa p.G543A ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.G524A NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 543 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G543E(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATTAATTTTCCGCACTGCAG 0.244000 8 54 0 0 0.003080 0 0 RB1 5925 broad.mit.edu 37 13 48881462 48881462 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:48881462C>T ENST00000267163.4 + 2 322 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 62 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(3)|p.Q62*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCATTATGTCAGAAATTAAA 0.323000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 26 0 0 0.001168 0 0 DNAJC30 84277 broad.mit.edu 37 7 73097498 73097498 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:73097498C>T ENST00000395176.2 - 1 285 c.256G>A c.(256-258)Gag>Aag p.E86K WBSCR22_ENST00000464615.1_3'UTR NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 86 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1) 4 TCGGCGGCCTCCGCGCTCCCG 0.662000 20 70 0 0 0.008871 0 0 PHLPP2 23035 broad.mit.edu 37 16 71701149 71701149 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:71701149G>C ENST00000393524.2 - 11 2449 c.1716C>G c.(1714-1716)ctC>ctG p.L572L PHLPP2_ENST00000567016.1_Silent_p.L607L|PHLPP2_ENST00000568954.1_Silent_p.L572L|PHLPP2_ENST00000360429.3_Silent_p.L572L|PHLPP2_ENST00000356272.3_Silent_p.L572L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 646 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CCAGCACCTCGAGGGGGATGT 0.478000 6 71 0 0 0.001168 0 0 ESYT1 23344 broad.mit.edu 37 12 56531825 56531825 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:56531825C>A ENST00000394048.5 + 20 2478 c.2214C>A c.(2212-2214)ctC>ctA p.L738L ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Silent_p.L748L|ESYT1_ENST00000267113.4_Silent_p.L748L NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 738 L -> F (in Ref. 2; BAB15139). integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AAGTGCGTCTCACCACAGTCT 0.473000 36 93 2.51541e-25 2.75679e-25 0.004878 1 0 GRIN2C 2905 broad.mit.edu 37 17 72845996 72845996 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:72845996G>T ENST00000293190.5 - 7 1714 c.1568C>A c.(1567-1569)tCt>tAt p.S523Y GRIN2C_ENST00000347612.4_Missense_Mutation_p.S523Y NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 523 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) AAAGGGTACAGAGAAGTCTAC 0.622000 25 76 1.85244e-09 1.99e-09 0.003330 1 0 RBMX2 51634 broad.mit.edu 37 X 129545341 129545341 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:129545341G>A ENST00000305536.6 + 5 387 c.323G>A c.(322-324)cGa>cAa p.R108Q RBMX2_ENST00000469953.1_3'UTR NM_016024.2 NP_057108.2 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 108 RRM. nucleotide binding|RNA binding breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 19 AGAACTATCCGAGTGGATCAT 0.478000 8 89 0 0 0.003080 0 0 TCOF1 6949 broad.mit.edu 37 5 149758896 149758896 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:149758896G>A ENST00000451292.1 + 16 2691 c.2583G>A c.(2581-2583)caG>caA p.Q861Q TCOF1_ENST00000513346.1_Silent_p.Q861Q|TCOF1_ENST00000445265.2_Silent_p.Q784Q|TCOF1_ENST00000394269.3_Silent_p.Q861Q|TCOF1_ENST00000377797.3_Silent_p.Q861Q|TCOF1_ENST00000504761.2_Silent_p.Q861Q|TCOF1_ENST00000439160.2_Silent_p.Q861Q|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000323668.7_Silent_p.Q784Q Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 861 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCAGGCCCAGACAGGGCCAG 0.627000 25 37 0 0 0.002780 0 0 CLK3 1198 broad.mit.edu 37 15 74912356 74912356 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:74912356C>T ENST00000395066.3 + 3 1064 c.603C>T c.(601-603)gaC>gaT p.D201D CLK3_ENST00000352989.5_Silent_p.D53D|CLK3_ENST00000348245.3_Silent_p.D53D|CLK3_ENST00000345005.4_Silent_p.D53D NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 201 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 GCAGCCATGACCGCCTGCCCT 0.587000 13 51 0 0 0.002450 0 0 DNAH11 8701 broad.mit.edu 37 7 21603941 21603941 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:21603941C>G ENST00000328843.6 + 6 1151 c.1120C>G c.(1120-1122)Cat>Gat p.H374D DNAH11_ENST00000409508.3_Missense_Mutation_p.H374D Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 374 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATCTGGAGTCATTCCAAGTT 0.413000 Kartagener syndrome 7 41 0 0 0.001984 0 0 KCNU1 157855 broad.mit.edu 37 8 36642013 36642013 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:36642013C>T ENST00000399881.3 + 1 122 c.85C>T c.(85-87)Ctc>Ttc p.L29F NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 29 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.L29I(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AGCATTCATTCTCTCTTCCTT 0.423000 5 37 0 0 0.000602 0 0 PHACTR1 221692 broad.mit.edu 37 6 13182823 13182823 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:13182823C>T ENST00000379350.1 + 6 698 c.569C>T c.(568-570)tCt>tTt p.S190F PHACTR1_ENST00000457702.2_Missense_Mutation_p.S45F|PHACTR1_ENST00000379345.2_Missense_Mutation_p.S45F|PHACTR1_ENST00000332995.7_Missense_Mutation_p.S190F Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 190 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGCCAGCTGTCTCTGCCTGCC 0.537000 4 234 0 0 0.009096 0 0 POLQ 10721 broad.mit.edu 37 3 121208086 121208086 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:121208086G>C ENST00000264233.5 - 16 3820 c.3692C>G c.(3691-3693)tCa>tGa p.S1231* NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1231 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGTAACATTTGAGTCTCTATT 0.333000 DNA polymerases (catalytic subunits) 33 134 0 0 0.012213 0 0 NEB 4703 broad.mit.edu 37 2 152470790 152470790 + Splice_Site SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:152470790A>G ENST00000427231.2 - 77 11803 c.11601T>C c.(11599-11601)gaT>gaC p.D3867D NEB_ENST00000409198.1_Splice_Site_p.D3624D|NEB_ENST00000172853.10_Splice_Site_p.D3624D|NEB_ENST00000603639.1_Splice_Site_p.D3867D|NEB_ENST00000397345.3_Splice_Site_p.D3867D|NEB_ENST00000604864.1_Splice_Site_p.D3867D NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3867 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCCACTCACATCACTCTGCA 0.458000 19 32 0 0 0.012319 0 0 RBM11 54033 broad.mit.edu 37 21 15588577 15588577 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:15588577G>A ENST00000400577.3 + 1 79 c.70G>A c.(70-72)Gag>Aag p.E24K RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 24 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AGTTCGGGAAGAGATTCTGTA 0.612000 3 24 0 0 0.004672 0 0 POLA2 23649 broad.mit.edu 37 11 65055264 65055264 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65055264G>A ENST00000265465.3 + 11 1615 c.1084G>A c.(1084-1086)Gac>Aac p.D362N POLA2_ENST00000541089.1_Missense_Mutation_p.D154N NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 362 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CCCCCTGCTTGACCTGATTGC 0.502000 5 74 0 0 0.000602 0 0 DMXL2 23312 broad.mit.edu 37 15 51758502 51758502 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:51758502G>C ENST00000251076.5 - 30 7683 c.7396C>G c.(7396-7398)Ctt>Gtt p.L2466V DMXL2_ENST00000449909.3_Missense_Mutation_p.L1830V|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2467V|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2466 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GACAAAGGAAGAAATGGCTGC 0.239000 13 51 0 0 0.001855 0 0 KIAA1377 57562 broad.mit.edu 37 11 101849120 101849120 + Missense_Mutation SNP G G A rs150274963 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:101849120G>A ENST00000263468.8 + 7 3158 c.2888G>A c.(2887-2889)cGg>cAg p.R963Q KIAA1377_ENST00000537689.1_Missense_Mutation_p.R764Q NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 963 protein binding p.R963Q(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAAACTAAGCGGAGAAATATT 0.333000 5 180 0 0 0.000602 0 0 SGK223 157285 broad.mit.edu 37 8 8175697 8175697 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:8175697C>T ENST00000520004.1 - 6 4452 c.4188G>A c.(4186-4188)ctG>ctA p.L1396L SGK223_ENST00000330777.4_Silent_p.L1396L Q86YV5 SG223_HUMAN 1396 ATP binding|non-membrane spanning protein tyrosine kinase activity GCAGGAGCTTCAGCGACTGTA 0.657000 8 29 0 0 0.003080 0 0 SLC30A6 55676 broad.mit.edu 37 2 32396442 32396442 + Splice_Site SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:32396442G>C ENST00000282587.5 + 2 127 c.90G>C c.(88-90)agG>agC p.R30S SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Intron|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Splice_Site_p.R30S|SLC30A6_ENST00000435660.1_Splice_Site_p.R30S NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 30 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTGACCGAAGGGTAAGTTATT 0.348000 7 36 0 0 0.003080 0 0 CDIP1 29965 broad.mit.edu 37 16 4563773 4563773 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:4563773C>G ENST00000399599.3 - 3 713 c.165G>C c.(163-165)gaG>gaC p.E55D CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000567695.1_Missense_Mutation_p.E55D|CDIP1_ENST00000563332.2_Missense_Mutation_p.E55D|CDIP1_ENST00000563507.1_Missense_Mutation_p.E55D|CDIP1_ENST00000564828.1_Missense_Mutation_p.E20D cell death-inducing p53 target 1 GACCCGGCGGCTCATAGGGTG 0.647000 15 53 0 0 0.003163 0 0 DNAH8 1769 broad.mit.edu 37 6 38783350 38783350 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:38783350G>A ENST00000359357.3 + 24 3043 c.2789G>A c.(2788-2790)cGt>cAt p.R930H DNAH8_ENST00000449981.2_Missense_Mutation_p.R1147H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R930H dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAGCAAATCCGTCCCATCAAG 0.463000 5 32 0 0 0.000602 0 0 C4orf22 255119 broad.mit.edu 37 4 81283911 81283911 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:81283911G>A ENST00000358105.3 + 2 164 c.115G>A c.(115-117)Gaa>Aaa p.E39K C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.E39K NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 39 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TCTCTAGGATGAAACCCTGGC 0.433000 24 110 0 0 0.004656 0 0 OR2L8 391190 broad.mit.edu 37 1 248112934 248112934 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:248112934C>G ENST00000357191.3 + 1 775 c.775C>G c.(775-777)Cta>Gta p.L259V OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTACACTTATCTACGTCCAAG 0.483000 25 73 0 0 0.010818 0 0 MYH10 4628 broad.mit.edu 37 17 8395764 8395764 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:8395764C>T ENST00000360416.3 - 34 4660 c.4522G>A c.(4522-4524)Gag>Aag p.E1508K MYH10_ENST00000396239.1_Missense_Mutation_p.E1498K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1477K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1493K NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1477 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCTCTGGCCTCGGCTTCGGCC 0.592000 4 72 0 0 0.009096 0 0 ZNF587 84914 broad.mit.edu 37 19 58371385 58371385 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:58371385C>T ENST00000339656.5 + 3 1787 c.1605C>T c.(1603-1605)ctC>ctT p.L535L ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L534L|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L492L NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTTCCAGTCTCATTAAACACA 0.403000 16 89 0 0 0.004990 0 0 MED23 9439 broad.mit.edu 37 6 131927625 131927625 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:131927625T>C ENST00000403834.3 - 13 1552 c.1379A>G c.(1378-1380)cAc>cGc p.H460R MED23_ENST00000354577.4_Missense_Mutation_p.H460R|MED23_ENST00000368058.1_Missense_Mutation_p.H460R|MED23_ENST00000545957.1_Missense_Mutation_p.H95R|MED23_ENST00000368068.3_Missense_Mutation_p.H454R|MED23_ENST00000368053.4_Missense_Mutation_p.H460R|MED23_ENST00000540546.1_Missense_Mutation_p.H460R|MED23_ENST00000368060.3_Missense_Mutation_p.H454R|MED23_ENST00000539158.1_Missense_Mutation_p.H454R Q9ULK4 MED23_HUMAN mediator complex subunit 23 454 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TTACTCATGGTGAAGTCTTAG 0.348000 8 36 0 0 0.008291 0 0 CAB39 51719 broad.mit.edu 37 2 231683405 231683405 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:231683405C>T ENST00000258418.5 + 9 1441 c.1012C>T c.(1012-1014)Cag>Tag p.Q338* CAB39_ENST00000409788.3_Nonsense_Mutation_p.Q338*|CAB39_ENST00000410084.3_Nonsense_Mutation_p.Q338* NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 338 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) GAGACCAGCTCAGCAAGAAGC 0.403000 8 12 0 0 0.004482 0 0 NRF1 4899 broad.mit.edu 37 7 129394931 129394931 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:129394931G>A ENST00000393232.1 + 11 1539 c.1422G>A c.(1420-1422)caG>caA p.Q474Q NRF1_ENST00000539636.1_Silent_p.Q313Q|NRF1_ENST00000393230.2_Silent_p.Q474Q|NRF1_ENST00000223190.4_Silent_p.Q474Q|NRF1_ENST00000353868.4_Silent_p.Q408Q|NRF1_ENST00000311967.2_Silent_p.Q493Q|NRF1_ENST00000393231.3_Silent_p.Q493Q NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 474 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GACCAGTGCAGGTGGCCATGG 0.592000 10 42 0 0 0.006214 0 0 ZNF420 147923 broad.mit.edu 37 19 37619283 37619283 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:37619283C>T ENST00000337995.3 + 5 1605 c.1390C>T c.(1390-1392)Caa>Taa p.Q464* ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Q464* NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAACTTACTCAACATGAGCG 0.423000 4 80 0 0 0.009096 0 0 MIR7-2 407044 broad.mit.edu 37 15 89155074 89155074 + RNA SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:89155074G>A ENST00000384970.1 + 0 19 NR_029606.1|NR_039867.1 AGAGTGGACCGGCTGGCCCCA 0.597000 3 7 0 0 0.004672 0 0 GPR110 266977 broad.mit.edu 37 6 46977428 46977428 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:46977428G>C ENST00000371253.2 - 11 1958 c.1743C>G c.(1741-1743)atC>atG p.I581M GPR110_ENST00000283297.5_Missense_Mutation_p.I384M|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 581 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAACGGGGAAGATTGTAGAGG 0.448000 13 54 0 0 0.013537 0 0 DNAH7 56171 broad.mit.edu 37 2 196671502 196671502 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:196671502G>C ENST00000312428.6 - 54 10238 c.10138C>G c.(10138-10140)Caa>Gaa p.Q3380E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3380 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGCATCCTTTGAAACTCATTT 0.383000 17 36 0 0 0.004007 0 0 GGA1 26088 broad.mit.edu 37 22 38021890 38021890 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:38021890G>A ENST00000406772.1 + 12 1460 c.808G>A c.(808-810)Gag>Aag p.E270K GGA1_ENST00000343632.4_Missense_Mutation_p.E343K|GGA1_ENST00000381756.5_Missense_Mutation_p.E360K|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Missense_Mutation_p.E310K NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 343 GAT.|Interaction with ARF3. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CCGCCCTGGCGAGCAGGCCAG 0.687000 12 43 0 0 0.013537 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388736 131388736 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:131388736G>A ENST00000372739.3 + 49 6456 c.6346G>A c.(6346-6348)Gag>Aag p.E2116K SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2111K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2116K NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2111 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGAAAATGCAGAGGAGGACTT 0.567000 18 137 0 0 0.004990 0 0 TRAV18 28665 broad.mit.edu 37 14 22471622 22471622 + RNA SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:22471622A>T ENST00000390446.3 + 0 151 TCCCTTTTTTAGGAAGGACCA 0.458000 20 59 0 0 0.008871 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634390 156634390 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:156634390G>A ENST00000296518.7 + 7 1436 c.1227G>A c.(1225-1227)ctG>ctA p.L409L GUCY1A3_ENST00000511108.1_Silent_p.L409L|GUCY1A3_ENST00000506455.1_Silent_p.L409L|GUCY1A3_ENST00000513574.1_Silent_p.L409L|GUCY1A3_ENST00000511507.1_Silent_p.L409L|GUCY1A3_ENST00000455639.2_Silent_p.L409L|GUCY1A3_ENST00000393832.3_Silent_p.L151L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 409 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACAATGCACTGAGGGATGTGG 0.522000 12 29 0 0 0.010729 0 0 KALRN 8997 broad.mit.edu 37 3 124174160 124174160 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:124174160G>C ENST00000360013.3 + 22 3810 c.3683G>C c.(3682-3684)gGa>gCa p.G1228A KALRN_ENST00000240874.3_Missense_Mutation_p.G1228A|KALRN_ENST00000460856.1_Missense_Mutation_p.G1219A NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1228 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTGAGGATGGGAAAGTACCGA 0.522000 12 79 0 0 0.013537 0 0 NARS 4677 broad.mit.edu 37 18 55270142 55270142 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:55270142C>T ENST00000256854.5 - 12 1740 c.1285G>A c.(1285-1287)Gac>Aac p.D429N NARS_ENST00000423481.2_Missense_Mutation_p.D180N NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 429 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) TTAATGGTGTCTGTCATCAGT 0.448000 6 53 0 0 0.001984 0 0 FAM183B 340286 broad.mit.edu 37 7 38725645 38725645 + Translation_Start_Site SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:38725645G>A ENST00000409072.3 - 0 895 family with sequence similarity 183, member B endometrium(1)|lung(7) 8 CTCTCTCGGCGTCCTCTTACC 0.622000 4 31 0 0 0.000602 0 0 MRPL34 64981 broad.mit.edu 37 19 17417150 17417150 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:17417150C>T ENST00000252602.1 + 2 466 c.241C>T c.(241-243)Cgc>Tgc p.R81C MRPL34_ENST00000595444.1_Missense_Mutation_p.R173C|MRPL34_ENST00000594999.1_Missense_Mutation_p.R81C|MRPL34_ENST00000602206.1_3'UTR|MRPL34_ENST00000600434.1_Missense_Mutation_p.R81C NM_023937.3 NP_076426.1 Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 81 translation structural constituent of ribosome endometrium(1)|lung(1) 2 GGTCATCCTTCGCCGAATGCT 0.652000 3 14 0 0 0.004672 0 0 FANCF 2188 broad.mit.edu 37 11 22647304 22647304 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:22647304G>C ENST00000327470.3 - 1 83 c.53C>G c.(52-54)tCa>tGa p.S18* AC103801.2_ENST00000428556.2_3'UTR NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 18 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GGTAGTGCTTGAGACCGCCAG 0.637000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 31 0 0 0.001984 0 0 AIMP2 7965 broad.mit.edu 37 7 6054965 6054965 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:6054965G>C ENST00000223029.3 + 2 443 c.324G>C c.(322-324)ttG>ttC p.L108F AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_Missense_Mutation_p.L30F NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 108 Interaction with PARK2. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGCTGGACTTGAATTCAGTGC 0.458000 11 48 0 0 0.008291 0 0 KDELC1 79070 broad.mit.edu 37 13 103450976 103450976 + Silent SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:103450976A>C ENST00000376004.4 - 1 381 c.45T>G c.(43-45)gtT>gtG p.V15V KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 15 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CGAGTGCTGGAACTGTCGCCA 0.532000 12 43 0 0 0.013537 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437831 201437831 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201437831C>T ENST00000367311.3 - 1 481 c.84G>A c.(82-84)cgG>cgA p.R28R PHLDA3_ENST00000367309.1_Silent_p.R28R NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 28 PH. R -> Q (in dbSNP:rs35383942). anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 CGCAGCGCTTCCGCTTCCACA 0.721000 6 21 0 0 0.001168 0 0 ASB16 92591 broad.mit.edu 37 17 42255693 42255693 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42255693C>G ENST00000293414.1 + 5 1381 c.1297C>G c.(1297-1299)Cgg>Ggg p.R433G ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 433 SOCS box. intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GGGTGCCACCCGGCTGCCACT 0.677000 6 13 0 0 0.001984 0 0 LAMA4 3910 broad.mit.edu 37 6 112476811 112476811 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:112476811C>T ENST00000230538.7 - 15 2312 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K LAMA4_ENST00000389463.4_Missense_Mutation_p.E632K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.E632K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 639 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTGCTGTTTCATTGGCTTCA 0.388000 10 61 0 0 0.010729 0 0 HERC1 8925 broad.mit.edu 37 15 63930948 63930948 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:63930948C>G ENST00000443617.2 - 62 12016 c.11929G>C c.(11929-11931)Gat>Cat p.D3977H NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3977 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ATTTGTTCATCCATGCCGTTA 0.393000 12 236 0 0 0.013537 0 0 NRP1 8829 broad.mit.edu 37 10 33619671 33619671 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:33619671G>C ENST00000265371.4 - 3 738 c.213C>G c.(211-213)ttC>ttG p.F71L NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Missense_Mutation_p.F71L|NRP1_ENST00000374816.3_Missense_Mutation_p.F71L|NRP1_ENST00000374822.4_Missense_Mutation_p.F71L|NRP1_ENST00000374821.5_Missense_Mutation_p.F71L|NRP1_ENST00000374823.5_Missense_Mutation_p.F71L|NRP1_ENST00000432372.2_Missense_Mutation_p.F71L|NRP1_ENST00000395995.1_Missense_Mutation_p.F71L O14786 NRP1_HUMAN neuropilin 1 71 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) AGTGAGGGTTGAAGTTGATCA 0.478000 10 44 0 0 0.006214 0 0 TRANK1 9881 broad.mit.edu 37 3 36874249 36874249 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:36874249C>G ENST00000429976.2 - 21 6940 c.6693G>C c.(6691-6693)aaG>aaC p.K2231N TRANK1_ENST00000301807.6_Missense_Mutation_p.K1681N|TRANK1_ENST00000428977.2_Missense_Mutation_p.K1681N NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2231 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GATGGAAATGCTTAGGGAAAA 0.378000 32 57 0 0 0.012213 0 0 MPP3 4356 broad.mit.edu 37 17 41907106 41907106 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:41907106G>A ENST00000398393.1 - 5 692 c.432C>T c.(430-432)ctC>ctT p.L144L MPP3_ENST00000398389.4_Silent_p.L119L Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 119 PDZ. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GCAGAGGCGGGAGAACGGGGT 0.557000 23 91 0 0 0.003330 0 0 RAD51 5888 broad.mit.edu 37 15 40993283 40993283 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:40993283G>A ENST00000267868.3 + 3 377 c.109G>A c.(109-111)Gat>Aat p.D37N RAD51_ENST00000532743.1_Missense_Mutation_p.D37N|RAD51_ENST00000557850.1_Missense_Mutation_p.D37N|RAD51_ENST00000423169.2_Missense_Mutation_p.D37N|RAD51_ENST00000382643.3_Missense_Mutation_p.D37N NM_002875.4 NP_002866.2 Q06609 RAD51_HUMAN RAD51 recombinase 37 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) AAATGCCAACGATGTGAAGAA 0.383000 Homologous recombination 10 44 0 0 0.008291 0 0 SDPR 8436 broad.mit.edu 37 2 192701173 192701173 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:192701173C>T ENST00000304141.4 - 2 1083 c.754G>A c.(754-756)Gag>Aag p.E252K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 252 caveola|cytosol phosphatidylserine binding|protein binding p.E252*(1) NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATCTTTTTCTCGATGTTCTGG 0.423000 84 186 0 0 0.014410 0 0 CDH7 1005 broad.mit.edu 37 18 63477229 63477229 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:63477229C>T ENST00000536984.2 + 3 1194 c.500C>T c.(499-501)cCc>cTc p.P167L CDH7_ENST00000397968.2_Missense_Mutation_p.P167L|CDH7_ENST00000323011.3_Missense_Mutation_p.P167L Q9ULB5 CADH7_HUMAN cadherin 7, type 2 167 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GAAATGTCTCCCGTGGGTAAG 0.398000 31 46 0 0 0.010818 0 0 IFNA7 3444 broad.mit.edu 37 9 21202054 21202054 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:21202054G>C ENST00000239347.3 - 1 150 c.111C>G c.(109-111)gcC>gcG p.A37A NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 37 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAGTATCAAGGCCCTCCTAT 0.502000 22 121 0 0 0.003330 0 0 AXIN1 8312 broad.mit.edu 37 16 339472 339472 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:339472G>C ENST00000262320.3 - 10 2801 c.2430C>G c.(2428-2430)ttC>ttG p.F810L AXIN1_ENST00000354866.3_Missense_Mutation_p.F774L NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 810 DIX. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GCAGCTCCTTGAACTGGCCCA 0.627000 13 52 0 0 0.002450 0 0 ANKRA2 57763 broad.mit.edu 37 5 72856967 72856967 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:72856967G>C ENST00000296785.3 - 3 1094 c.436C>G c.(436-438)Ctg>Gtg p.L146V NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 146 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) TTTGCTAACAGAGGTGTGGTA 0.343000 11 34 0 0 0.002450 0 0 DSP 1832 broad.mit.edu 37 6 7578018 7578018 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:7578018G>C ENST00000379802.3 + 21 3225 c.2884G>C c.(2884-2886)Gag>Cag p.E962Q DSP_ENST00000418664.2_Missense_Mutation_p.E962Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 962 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCAGGATTATGAGCTCCAGCT 0.438000 5 93 0 0 0.000602 0 0 CHAC2 494143 broad.mit.edu 37 2 54001597 54001597 + Missense_Mutation SNP C C G rs34156607 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:54001597C>G ENST00000295304.4 + 3 585 c.490C>G c.(490-492)Ctt>Gtt p.L164V GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron NM_001008708.2 NP_001008708.1 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator homolog 2 (E. coli) 164 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGATGAGCATCTTTTCGCTTT 0.348000 7 49 0 0 0.003080 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729766 37729766 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37729766C>G ENST00000330843.4 - 4 2566 c.2554G>C c.(2554-2556)Gag>Cag p.E852Q RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 852 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCAGGAGGCTCTCCGTCAGAC 0.637000 7 40 0 0 0.006214 0 0 HECW2 57520 broad.mit.edu 37 2 197138838 197138838 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:197138838C>A ENST00000260983.3 - 16 3327 c.3145G>T c.(3145-3147)Gat>Tat p.D1049Y HECW2_ENST00000409111.1_Missense_Mutation_p.D693Y NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGTCGAGAATCTTCTCCTACC 0.448000 14 24 0.000219431 0.000230032 0.002450 1 0 ZNF429 353088 broad.mit.edu 37 19 21719683 21719683 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:21719683G>A ENST00000358491.4 + 4 1036 c.828G>A c.(826-828)aaG>aaA p.K276K ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 276 Missing (in Ref. 2; AAP30884 and 3; AAK01422). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 CTACCCATAAGAGAATTCATT 0.378000 4 35 0 0 0.009096 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795778 100795778 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:100795778C>G ENST00000361529.3 + 6 801 c.723C>G c.(721-723)atC>atG p.I241M SLC25A47_ENST00000557052.1_Missense_Mutation_p.I95M NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 241 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 TGGACGTGATCAAGTCGAGAC 0.667000 9 58 0 0 0.004482 0 0 OSBP2 23762 broad.mit.edu 37 22 31289134 31289134 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:31289134C>T ENST00000332585.6 + 9 1999 c.1895C>T c.(1894-1896)gCg>gTg p.A632V OSBP2_ENST00000535268.1_Missense_Mutation_p.A176V|OSBP2_ENST00000407373.1_Missense_Mutation_p.A459V|OSBP2_ENST00000446658.2_Missense_Mutation_p.A631V|OSBP2_ENST00000403222.3_Missense_Mutation_p.A466V|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000437268.2_Missense_Mutation_p.A374V|OSBP2_ENST00000382310.3_Missense_Mutation_p.A583V|OSBP2_ENST00000401475.1_Missense_Mutation_p.A265V NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3 NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 632 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCCTCAGCTGCGCACTACGTG 0.592000 5 27 0 0 0.000602 0 0 INO80 54617 broad.mit.edu 37 15 41272569 41272569 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:41272569G>A ENST00000361937.3 - 36 4947 c.4523C>T c.(4522-4524)tCa>tTa p.S1508L INO80_ENST00000401393.3_Missense_Mutation_p.S1508L Q9ULG1 INO80_HUMAN INO80 complex subunit 1508 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGAGGCGCTTGAAGGTCCAAA 0.547000 10 52 0 0 0.008291 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475298 50475298 + RNA SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:50475298A>C ENST00000602139.1 + 0 1244 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 AGGAGAGTTCACCTGCCACGC 0.677000 4 30 0 0 0.008871 0 0 CNTRL 11064 broad.mit.edu 37 9 123932082 123932082 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:123932082G>C ENST00000373855.1 + 39 6524 c.6264G>C c.(6262-6264)gaG>gaC p.E2088D CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E2088D|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1536D Q7Z7A1 CNTRL_HUMAN centriolin 2088 Required for centrosome localization.|Sufficient for interaction with HOOK2. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GCCAGCTGGAGAAAAACCTTC 0.443000 3 81 0 0 0.004672 0 0 KCNC4 3749 broad.mit.edu 37 1 110765682 110765682 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:110765682G>C ENST00000369787.3 + 2 802 c.775G>C c.(775-777)Gag>Cag p.E259Q KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.E259Q|KCNC4_ENST00000438661.2_Missense_Mutation_p.E259Q NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 259 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E259K(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CAACGTGACAGAGATCCTCCG 0.552000 21 129 0 0 0.010504 0 0 DPM1 8813 broad.mit.edu 37 20 49574949 49574949 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:49574949C>G ENST00000371582.4 - 1 143 c.112G>C c.(112-114)Gag>Cag p.E38Q DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.E38Q|DPM1_ENST00000371588.5_Missense_Mutation_p.E38Q O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 38 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 GGCAGGTTCTCGCGCTCGTTG 0.582000 16 25 0 0 0.004007 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246952 89246952 + RNA SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:89246952G>A ENST00000496168.1 - 0 398 TAAACTAGACGCCTTATAGAT 0.517000 38 101 0 0 0.004878 0 0 INPPL1 3636 broad.mit.edu 37 11 71949157 71949157 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:71949157C>G ENST00000298229.2 + 27 3828 c.3624C>G c.(3622-3624)atC>atG p.I1208M INPPL1_ENST00000538751.1_Missense_Mutation_p.I966M|INPPL1_ENST00000541756.1_Missense_Mutation_p.I966M NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1208 SAM. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGCGGGCCATCGGCTTGGAGC 0.711000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 0.004672 0 0 TWSG1 57045 broad.mit.edu 37 18 9396405 9396405 + Silent SNP C C T rs143807731 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:9396405C>T ENST00000262120.5 + 4 542 c.351C>T c.(349-351)aaC>aaT p.N117N TWSG1_ENST00000581641.1_Silent_p.N117N NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 117 breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 TGAATTGGAACATCGTTTCTT 0.463000 14 92 0 0 0.004007 0 0 MCC 4163 broad.mit.edu 37 5 112363128 112363128 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:112363128C>T ENST00000302475.4 - 17 2924 c.2361G>A c.(2359-2361)ctG>ctA p.L787L MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000408903.3_Silent_p.L977L NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 787 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTAACTTCTTCAGTTTGTTTT 0.448000 6 82 0 0 0.001984 0 0 LRRC71 149499 broad.mit.edu 37 1 156897392 156897392 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:156897392C>T ENST00000337428.7 + 7 921 c.767C>T c.(766-768)tCg>tTg p.S256L LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 256 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 ACCCTCGTCTCGCTCAACCTG 0.662000 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 9 0 0 0.010729 0 0 STAB1 23166 broad.mit.edu 37 3 52554987 52554987 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:52554987C>A ENST00000321725.6 + 55 5950 c.5874C>A c.(5872-5874)agC>agA p.S1958R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1958 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGAAGCCCAGCTGCTGCCCTG 0.617000 12 17 3.07112e-06 3.25884e-06 0.010729 1 0 PTCHD1 139411 broad.mit.edu 37 X 23412194 23412194 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:23412194G>C ENST00000379361.4 + 3 3419 c.2559G>C c.(2557-2559)aaG>aaC p.K853N NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 853 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CACCCTCTAAGAAAAAAAGGA 0.403000 38 78 0 0 0.006230 0 0 NTRK3 4916 broad.mit.edu 37 15 88476307 88476307 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:88476307C>T ENST00000394480.2 - 16 2146 c.1825G>A c.(1825-1827)Gat>Aat p.D609N NTRK3_ENST00000360948.2_Missense_Mutation_p.D609N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D609N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D601N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D511N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D601N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D601N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGTCCCCATCGCCGCACACT 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 6 46 0 0 0.001168 0 0 DAZAP2 9802 broad.mit.edu 37 12 51636147 51636147 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:51636147C>G ENST00000549555.1 + 4 419 c.335C>G c.(334-336)tCa>tGa p.S112* DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Q56E|DAZAP2_ENST00000551313.1_Missense_Mutation_p.Q78E|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Q106E|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Q116E|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000412716.3_Missense_Mutation_p.Q138E NM_001136266.1 NP_001129738.1 Q15038 DAZP2_HUMAN DAZ associated protein 2 0 Pro-rich. WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 CAATGCTGCTCAGCTTGCAGT 0.537000 7 333 0 0 0.001984 0 0 BMI1 648 broad.mit.edu 37 10 22616526 22616526 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:22616526C>G ENST00000376663.3 + 4 717 c.212C>G c.(211-213)tCa>tGa p.S71* COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S214* NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 TTTTTCAGGTCAGATAAAACT 0.264000 13 121 0 0 0.001855 0 0 POLA2 23649 broad.mit.edu 37 11 65063047 65063047 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65063047C>G ENST00000265465.3 + 16 2028 c.1497C>G c.(1495-1497)ctC>ctG p.L499L POLA2_ENST00000541089.1_Silent_p.L291L|POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 499 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GCCGAATACTCAAGCACATCT 0.498000 10 130 0 0 0.010729 0 0 PNMA5 114824 broad.mit.edu 37 X 152159943 152159943 + Missense_Mutation SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:152159943A>G ENST00000439251.1 - 2 638 c.200T>C c.(199-201)aTt>aCt p.I67T PNMA5_ENST00000535214.1_Missense_Mutation_p.I67T|PNMA5_ENST00000452693.1_Missense_Mutation_p.I67T|PNMA5_ENST00000361887.5_Missense_Mutation_p.I67T NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 67 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) agccagttcaatgaagactgc 0.517000 29 117 0 0 0.006320 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 121 0 0 0.009096 0 0 CRYGB 1419 broad.mit.edu 37 2 209007482 209007482 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:209007482C>G ENST00000260988.4 - 3 455 c.408G>C c.(406-408)gaG>gaC p.E136D NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 136 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens p.E136E(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) AGTTGGGCATCTCATAGAGGA 0.542000 34 81 0 0 0.004289 0 0 PKD1L1 168507 broad.mit.edu 37 7 47876633 47876633 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:47876633G>A ENST00000289672.2 - 37 5879 c.5829C>T c.(5827-5829)taC>taT p.Y1943Y NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1943 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGGCCTGCTGTACACCGACA 0.577000 3 43 0 0 0.009096 0 0 PCYT2 5833 broad.mit.edu 37 17 79864646 79864646 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:79864646G>A ENST00000538936.2 - 7 774 c.666C>T c.(664-666)ttC>ttT p.F222F PCYT2_ENST00000570391.1_Silent_p.F190F|PCYT2_ENST00000570388.1_Silent_p.F144F|PCYT2_ENST00000538721.2_Silent_p.F240F|PCYT2_ENST00000331285.3_Silent_p.F144F|PCYT2_ENST00000571105.1_Silent_p.F222F NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 222 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGAACAGGTCGAAGGCACCAG 0.607000 16 32 0 0 0.006122 0 0 ANK2 287 broad.mit.edu 37 4 114275389 114275389 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:114275389C>T ENST00000357077.4 + 38 5668 c.5615C>T c.(5614-5616)tCg>tTg p.S1872L ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1839L|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1839 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCGTCATCATCGAGTAAAACT 0.453000 34 107 0 0 0.003271 0 0 ASAP2 8853 broad.mit.edu 37 2 9419502 9419502 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:9419502C>G ENST00000281419.3 + 2 523 c.183C>G c.(181-183)atC>atG p.I61M ASAP2_ENST00000315273.4_Missense_Mutation_p.I61M NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 61 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TGAAAGCAATCAACAGCTCTG 0.428000 23 35 0 0 0.005443 0 0 FAT3 120114 broad.mit.edu 37 11 92523337 92523337 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:92523337G>A ENST00000298047.6 + 7 4581 c.4564G>A c.(4564-4566)Gag>Aag p.E1522K FAT3_ENST00000525166.1_Missense_Mutation_p.E1372K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1522K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1522 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTATACTGCCGAGAGGCTGGA 0.498000 TCGA Ovarian(4;0.039) 21 117 0 0 0.008871 0 0 ZNF266 10781 broad.mit.edu 37 19 9526415 9526415 + Nonsense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:9526415G>T ENST00000592904.1 - 4 2195 c.119C>A c.(118-120)tCa>tAa p.S40* ZNF266_ENST00000588933.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000592292.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.S40* Q14584 ZN266_HUMAN zinc finger protein 266 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 TTTCCATTCTGAAGCTGAAGA 0.408000 13 25 4.3838e-07 4.6977e-07 0.001855 1 0 ARHGAP29 9411 broad.mit.edu 37 1 94639451 94639451 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:94639451C>T ENST00000260526.6 - 23 3942 c.3760G>A c.(3760-3762)Gaa>Aaa p.E1254K NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1254 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATTTCACCTTCGAGGTCTTCA 0.398000 13 106 0 0 0.001855 0 0 ACP6 51205 broad.mit.edu 37 1 147124427 147124427 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:147124427G>A ENST00000392988.2 - 7 997 c.804C>T c.(802-804)ttC>ttT p.F268F ACP6_ENST00000369238.6_Intron Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 0 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) AGCTTCCATGGAACCTGCAGG 0.478000 4 60 0 0 0.009096 0 0 C11orf48 79081 broad.mit.edu 37 11 62435136 62435136 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:62435136C>G ENST00000431002.2 - 2 2208 c.475G>C c.(475-477)Gaa>Caa p.E159Q METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000354588.3_Missense_Mutation_p.E133Q|C11orf48_ENST00000532208.1_Missense_Mutation_p.E133Q Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 159 endometrium(1)|lung(5)|urinary_tract(1) 7 CAAGCATCTTCTTCATCCTGG 0.537000 14 315 0 0 0.002450 0 0 PHACTR1 221692 broad.mit.edu 37 6 13182825 13182825 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:13182825C>T ENST00000379350.1 + 6 700 c.571C>T c.(571-573)Ctg>Ttg p.L191L PHACTR1_ENST00000457702.2_Silent_p.L46L|PHACTR1_ENST00000379345.2_Silent_p.L46L|PHACTR1_ENST00000332995.7_Silent_p.L191L Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 191 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CCAGCTGTCTCTGCCTGCCCT 0.542000 4 228 0 0 0.009096 0 0 ZNF45 7596 broad.mit.edu 37 19 44418218 44418218 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44418218G>C ENST00000269973.5 - 10 2460 c.1370C>G c.(1369-1371)tCa>tGa p.S457* ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S457*|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 457 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 CAGAAGATTTGAGGCCTGGCT 0.473000 5 125 0 0 0.001168 0 0 LINGO4 339398 broad.mit.edu 37 1 151774212 151774212 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:151774212C>T ENST00000368820.3 - 2 1906 c.969G>A c.(967-969)ttG>ttA p.L323L NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 323 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAGGCAGTCAAGCCATGGA 0.597000 13 71 0 0 0.013537 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834560 94834560 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:94834560G>A ENST00000371531.1 + 3 610 c.232G>A c.(232-234)Gag>Aag p.E78K CYP26A1_ENST00000224356.4_Missense_Mutation_p.E147K|CYP26A1_ENST00000394139.1_Missense_Mutation_p.E78K NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 147 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CTTCAGCCGCGAGGCACTCGA 0.657000 10 16 0 0 0.010729 0 0 ZWINT 11130 broad.mit.edu 37 10 58118398 58118398 + Missense_Mutation SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:58118398A>T ENST00000373944.3 - 7 749 c.711T>A c.(709-711)gaT>gaA p.D237E ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.D237E|ZWINT_ENST00000361148.6_Missense_Mutation_p.D190E|ZWINT_ENST00000318387.2_Missense_Mutation_p.D117E O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 237 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GGGGTTTATCATCTGGAAGAT 0.532000 18 27 0 0 0.006122 0 0 STRADA 92335 broad.mit.edu 37 17 61787963 61787963 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:61787963C>G ENST00000245865.5 - 7 504 c.295G>C c.(295-297)Gat>Cat p.D99H RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.D120H|STRADA_ENST00000447001.3_Missense_Mutation_p.D113H|STRADA_ENST00000582137.1_Missense_Mutation_p.D128H|STRADA_ENST00000336174.6_Missense_Mutation_p.D157H|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_Missense_Mutation_p.D99H|STRADA_ENST00000375840.4_Missense_Mutation_p.D99H Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 157 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 CAGATGAGATCTTTTGCAGAA 0.498000 6 35 0 0 0.001168 0 0 POTEC 388468 broad.mit.edu 37 18 14513681 14513681 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:14513681C>T ENST00000358970.5 - 10 1512 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 505 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 ATTTTCTTTTCAGCCACTTCT 0.299000 15 60 0 0 0.003163 0 0 ISOC1 51015 broad.mit.edu 37 5 128440990 128440990 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:128440990C>T ENST00000173527.5 + 3 558 c.542C>T c.(541-543)cCa>cTa p.P181L NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 181 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CTGGTACTTCCAAAGACCAAG 0.398000 9 25 0 0 0.004482 0 0 UGT1A3 54659 broad.mit.edu 37 2 234637776 234637776 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:234637776G>A ENST00000482026.1 + 1 23 c.4G>A c.(4-6)Gcc>Acc p.A2T UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.A2T|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGCTGAGATGGCCACAGGACT 0.572000 OREG0003835 type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 72 0 0 0.004672 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905741 132905741 + Missense_Mutation SNP G G A rs111770980 by1000genomes TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:132905741G>A ENST00000409867.1 - 6 989 c.740C>T c.(739-741)aCg>aTg p.T247M ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GCTTTCAGCCGTGTCAGGTGT 0.438000 4 21 0 0 0.001168 0 0 LCE3A 353142 broad.mit.edu 37 1 152595518 152595518 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:152595518G>T ENST00000335674.1 - 1 61 c.62C>A c.(61-63)cCa>cAa p.P21Q NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 21 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTGTGCTGGGCTCTTTGC 0.632000 22 47 4.4004e-07 4.70388e-07 0.003330 1 0 OR4L1 122742 broad.mit.edu 37 14 20528789 20528789 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:20528789G>A ENST00000315683.1 + 1 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATACACCCTGGAATTATTTGT 0.408000 59 80 0 0 0.014410 0 0 FGF6 2251 broad.mit.edu 37 12 4553375 4553375 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:4553375C>T ENST00000228837.2 - 2 417 c.374G>A c.(373-375)cGa>cAa p.R125Q NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 125 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity p.R125Q(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CACCACGCCTCGCTCCACAGT 0.537000 9 36 0 0 0.010729 0 0 STARD10 10809 broad.mit.edu 37 11 72469670 72469670 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:72469670G>C ENST00000334805.6 - 4 1283 c.364C>G c.(364-366)Ccc>Gcc p.P122A ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.P93A|STARD10_ENST00000538536.1_Missense_Mutation_p.P76A|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000543304.1_Missense_Mutation_p.P122A NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 122 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) AGGGGCTTGGGACACCTCCCT 0.582000 3 19 0 0 0.004672 0 0 CACNA1C 775 broad.mit.edu 37 12 2797760 2797760 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:2797760G>A ENST00000399655.1 + 46 6197 c.5932G>A c.(5932-5934)Gag>Aag p.E1978K CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2049K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1986K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1997K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2019K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1997K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2013K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2003K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1995K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1998K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1984K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2013K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2006K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2049K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1986K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1997K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E2026K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2061 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGAGGGGGTCGAGTCCAGTGA 0.692000 13 53 0 0 0.013537 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68273295 68273295 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:68273295C>G ENST00000347230.4 - 6 1122 c.984G>C c.(982-984)ctG>ctC p.L328L ZFYVE26_ENST00000555452.1_Silent_p.L328L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 328 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGTTGTTGCTCAGGCAGTAGA 0.498000 7 34 0 0 0.001984 0 0 SGK223 157285 broad.mit.edu 37 8 8175696 8175696 + Nonsense_Mutation SNP T T A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:8175696T>A ENST00000520004.1 - 6 4453 c.4189A>T c.(4189-4191)Aag>Tag p.K1397* SGK223_ENST00000330777.4_Nonsense_Mutation_p.K1397* Q86YV5 SG223_HUMAN 1397 ATP binding|non-membrane spanning protein tyrosine kinase activity TGCAGGAGCTTCAGCGACTGT 0.657000 8 29 0 0 0.003080 0 0 PCLO 27445 broad.mit.edu 37 7 82544005 82544005 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:82544005C>G ENST00000333891.9 - 7 13634 c.13297G>C c.(13297-13299)Gaa>Caa p.E4433Q PCLO_ENST00000423517.2_Missense_Mutation_p.E4433Q|PCLO_ENST00000437081.1_Missense_Mutation_p.E1153Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein PDZ. 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 AATTTACCTTCACTGTCTGAC 0.418000 5 20 0 0 0.000602 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401171 17401171 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:17401171G>C ENST00000470360.1 + 4 560 c.443G>C c.(442-444)gGa>gCa p.G148A SLC7A2_ENST00000398090.3_Missense_Mutation_p.G148A|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G108A|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G148A|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G108A P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 108 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GTGACTGTCGGAGAGCTGTGG 0.493000 18 28 0 0 0.008871 0 0 CLUH 23277 broad.mit.edu 37 17 2605236 2605236 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:2605236C>G ENST00000570628.2 - 4 582 c.477G>C c.(475-477)ctG>ctC p.L159L CLUH_ENST00000538975.1_Silent_p.L159L|CLUH_ENST00000435359.1_Silent_p.L159L clustered mitochondria (cluA/CLU1) homolog TGAAGACACTCAGGAAGGACA 0.667000 6 42 0 0 0.004482 0 0 ADAM23 8745 broad.mit.edu 37 2 207437917 207437917 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:207437917C>G ENST00000264377.3 + 18 2063 c.1735C>G c.(1735-1737)Cag>Gag p.Q579E ADAM23_ENST00000374416.1_Missense_Mutation_p.Q579E|ADAM23_ENST00000374415.3_Missense_Mutation_p.Q579E NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 579 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGACTCTGGTCAGGTATGGCG 0.408000 27 63 0 0 0.006320 0 0 C11orf30 56946 broad.mit.edu 37 11 76257114 76257114 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:76257114G>A ENST00000529032.1 + 19 3547 c.3547G>A c.(3547-3549)Gaa>Aaa p.E1183K C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1184K|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1184K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1183K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1198K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E1085K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E1092K Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1183 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCTCACTGGTGAAGCAGGATC 0.478000 14 46 0 0 0.003163 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091408 19091408 + RNA SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:19091408G>A ENST00000365494.1 + 0 80 cgaaaaccacgaggaagagag 0.493000 54 244 0 0 0.014410 0 0 CATSPERD 257062 broad.mit.edu 37 19 5771022 5771022 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:5771022C>G ENST00000381624.3 + 19 1763 c.1702C>G c.(1702-1704)Cag>Gag p.Q568E CATSPERD_ENST00000381614.2_Missense_Mutation_p.Q226E|CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 568 integral to membrane TTACTCCTACCAGCAGCTGGG 0.607000 13 50 0 0 0.013537 0 0 GGT6 124975 broad.mit.edu 37 17 4461953 4461953 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:4461953C>T ENST00000301395.3 - 3 802 c.743G>A c.(742-744)gGa>gAa p.G248E GGT6_ENST00000381550.3_Missense_Mutation_p.G286E|GGT6_ENST00000573591.1_Missense_Mutation_p.G132E|GGT6_ENST00000574154.1_Missense_Mutation_p.G280E NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 280 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CCCCAGGTCTCCCGCCAGTAG 0.657000 17 5 0 0 0.006122 0 0 NPIPA1 9284 broad.mit.edu 37 16 15045813 15045813 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:15045813C>G ENST00000328085.6 + 8 984 c.984C>G c.(982-984)ctC>ctG p.L328L NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ATGATAATCTCAAGACACCTC 0.468000 4 60 0 0 0.001168 0 0 LMO4 8543 broad.mit.edu 37 1 87797721 87797721 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:87797721C>T ENST00000370544.5 + 2 803 c.23C>T c.(22-24)tCg>tTg p.S8L LMO4_ENST00000370542.1_Missense_Mutation_p.S8L|LMO4_ENST00000489303.1_3'UTR NM_006769.3 NP_006760.1 P61968 LMO4_HUMAN LIM domain only 4 8 neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1) 9 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) GGCAGCAGCTCGCAGCCGCCC 0.637000 6 53 0 0 0.003080 0 0 COL6A3 1293 broad.mit.edu 37 2 238262009 238262009 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:238262009C>G ENST00000295550.4 - 25 7117 c.6665G>C c.(6664-6666)gGa>gCa p.G2222A COL6A3_ENST00000409809.1_Missense_Mutation_p.G2016A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2016A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2022A|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2021A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1615A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2222 Collagen-like 3.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCCTGCTCTCCCTCAAAGCC 0.507000 10 44 0 0 0.013537 0 0 RFTN2 130132 broad.mit.edu 37 2 198508944 198508944 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:198508944C>A ENST00000295049.4 - 3 912 c.376G>T c.(376-378)Gag>Tag p.E126* NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 GGACATTCCTCAATCACGAGC 0.433000 10 39 6.40141e-05 6.74323e-05 0.010729 1 0 SMYD3 64754 broad.mit.edu 37 1 246021899 246021899 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:246021899G>C ENST00000490107.1 - 10 1014 c.798C>G c.(796-798)atC>atG p.I266M SMYD3_ENST00000541742.1_Missense_Mutation_p.I266M|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.I325M NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 325 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TCAGCTGGTAGATGTTGATAT 0.507000 4 61 0 0 0.009096 0 0 RIN1 9610 broad.mit.edu 37 11 66100213 66100213 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:66100213C>T ENST00000311320.4 - 10 2012 c.1886G>A c.(1885-1887)cGa>cAa p.R629Q RIN1_ENST00000424433.2_Missense_Mutation_p.R524Q|RIN1_ENST00000530056.1_Missense_Mutation_p.R463Q|RIN1_ENST00000524804.1_5'UTR NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 629 Ras and 14-3-3 protein binding region.|Ras-associating. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 ATAGGCTACTCGGAGGAGGTG 0.592000 11 84 0 0 0.008291 0 0 RFPL1 5988 broad.mit.edu 37 22 29834919 29834919 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:29834919C>G ENST00000354373.2 + 1 348 c.139C>G c.(139-141)Cta>Gta p.L47V RFPL1S_ENST00000461286.3_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 47 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CTCAGACTATCTAGAGAAACC 0.517000 14 74 0 0 0.001855 0 0 TENM2 57451 broad.mit.edu 37 5 167626878 167626878 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:167626878G>A ENST00000519204.1 + 16 2927 c.2809G>A c.(2809-2811)Gaa>Aaa p.E937K TENM2_ENST00000403607.2_Missense_Mutation_p.E882K|TENM2_ENST00000520394.1_Missense_Mutation_p.E826K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1058K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1058K teneurin transmembrane protein 2 GGTTCTTCATGAAGAAATCGA 0.488000 79 118 0 0 0.014410 0 0 ANKHD1 54882 broad.mit.edu 37 5 139876702 139876702 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:139876702C>G ENST00000297183.6 + 15 2967 c.2843C>G c.(2842-2844)tCt>tGt p.S948C ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S948C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S948C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACAAATTCTCTTGAACTT 0.428000 4 84 0 0 0.009096 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34802629 34802629 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:34802629C>G ENST00000192788.5 + 6 831 c.660C>G c.(658-660)ctC>ctG p.L220L UHRF1BP1_ENST00000452449.2_Silent_p.L220L NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 220 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AAATAGCCCTCAAAAGAAGAG 0.438000 3 73 0 0 0.009096 0 0 CELSR3 1951 broad.mit.edu 37 3 48698212 48698212 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:48698212C>T ENST00000544264.1 - 1 2136 c.1856G>A c.(1855-1857)cGc>cAc p.R619H CELSR3_ENST00000164024.4_Missense_Mutation_p.R619H Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 619 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCCCTGATGCGCAAGGCATA 0.587000 6 25 0 0 0.001168 0 0 CFH 3075 broad.mit.edu 37 1 196694341 196694341 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:196694341C>A ENST00000367429.4 + 12 2027 c.1787C>A c.(1786-1788)tCc>tAc p.S596Y NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 596 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGAAATTCTCCTGCAAACCA 0.393000 7 41 0.00307968 0.00320523 0.003080 1 0 EVI2B 2124 broad.mit.edu 37 17 29632630 29632630 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:29632630C>T ENST00000544462.1 - 3 197 c.43G>A c.(43-45)Gaa>Aaa p.E15K CTD-2370N5.3_ENST00000578584.1_3'UTR|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_5'UTR|EVI2B_ENST00000330927.4_5'UTR P34910 EVI2B_HUMAN ecotropic viral integration site 2B 0 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GGATCCATTTCAGAATATTTC 0.323000 7 31 0 0 0.003080 0 0 TDP1 55775 broad.mit.edu 37 14 90442142 90442142 + Silent SNP G G A rs139270583 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:90442142G>A ENST00000335725.4 + 7 1024 c.774G>A c.(772-774)gcG>gcA p.A258A TDP1_ENST00000555880.1_Silent_p.A258A|TDP1_ENST00000393454.2_Silent_p.A258A|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000393452.3_Silent_p.A258A|TDP1_ENST00000555565.1_3'UTR NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 258 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGGATATTGCGTTTGGAACAC 0.373000 Repair of DNA-protein crosslinks 18 98 0 0 0.006122 0 0 SLC9A4 389015 broad.mit.edu 37 2 103128724 103128724 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:103128724G>C ENST00000295269.4 + 7 2008 c.1551G>C c.(1549-1551)gtG>gtC p.V517V NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 517 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACTACCAAGTGAGAGACAAGT 0.453000 20 79 0 0 0.010504 0 0 FOXO4 4303 broad.mit.edu 37 X 70321316 70321316 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:70321316C>A ENST00000374259.3 + 2 1568 c.1236C>A c.(1234-1236)gtC>gtA p.V412V FOXO4_ENST00000341558.3_Silent_p.V357V NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 412 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CCACGGGCGTCGGCCTGTGTC 0.617000 6 29 0.00116845 0.001219 0.001168 1 0 NUP85 79902 broad.mit.edu 37 17 73204673 73204673 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:73204673C>G ENST00000245544.4 + 2 156 c.85C>G c.(85-87)Cca>Gca p.P29A NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.P29A|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 29 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TGACTGGGGTCCAGGGGAGAT 0.358000 6 241 0 0 0.001984 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970821 101970821 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:101970821C>T ENST00000543253.1 + 5 1943 c.1024C>T c.(1024-1026)Cct>Tct p.P342S GPRASP2_ENST00000332262.5_Missense_Mutation_p.P342S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.P342S NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CTGGGTTTTGCCTGGAGAAGA 0.448000 4 116 0 0 0.009096 0 0 DAW1 164781 broad.mit.edu 37 2 228771965 228771965 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:228771965G>C ENST00000373666.2 + 10 1606 c.970G>C c.(970-972)Gat>Cat p.D324H DAW1_ENST00000309931.2_Missense_Mutation_p.D324H|DAW1_ENST00000545118.1_Missense_Mutation_p.D309H dynein assembly factor with WDR repeat domains 1 TGCTTCAGCTGATGGTAGGTG 0.373000 5 21 0 0 0.000602 0 0 BRF1 2972 broad.mit.edu 37 14 105688029 105688029 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:105688029G>A ENST00000546474.1 - 11 16230 c.1271C>T c.(1270-1272)tCa>tTa p.S424L BRF1_ENST00000440513.3_Missense_Mutation_p.S309L|BRF1_ENST00000392557.4_Missense_Mutation_p.S220L|BRF1_ENST00000327359.3_Missense_Mutation_p.S309L|BRF1_ENST00000379937.2_Missense_Mutation_p.S397L|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.S186L|BRF1_ENST00000547530.1_5'UTR NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 424 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GATGGAGTCTGAGATGCCCAG 0.672000 6 19 0 0 0.001984 0 0 TMEM50A 23585 broad.mit.edu 37 1 25678163 25678163 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:25678163G>A ENST00000374358.4 + 4 806 c.253G>A c.(253-255)Gaa>Aaa p.E85K TMEM50A_ENST00000480937.1_3'UTR NM_014313.3 NP_055128.1 O95807 TM50A_HUMAN transmembrane protein 50A 85 endoplasmic reticulum|integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) TAGTTACAGTGAAGGTTGTCT 0.368000 13 40 0 0 0.001855 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6335373 6335373 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:6335373G>A ENST00000335585.5 - 7 899 c.876C>T c.(874-876)agC>agT p.S292S PPP2R2C_ENST00000515571.1_Silent_p.S275S|PPP2R2C_ENST00000506140.1_Silent_p.S285S|PPP2R2C_ENST00000507294.1_Silent_p.S285S|PPP2R2C_ENST00000382599.4_Silent_p.S292S NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 292 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TGTAGCGGCCGCTGTGGCTGA 0.562000 OREG0016071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 82 0 0 0.008871 0 0 VPS13D 55187 broad.mit.edu 37 1 12317111 12317111 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:12317111G>A ENST00000358136.3 + 9 1038 c.908G>A c.(907-909)cGa>cAa p.R303Q VPS13D_ENST00000356315.4_Missense_Mutation_p.R303Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 303 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTGAAGTTCCGAAGGTGGAAA 0.443000 3 67 0 0 0.004672 0 0 RPGR 6103 broad.mit.edu 37 X 38150241 38150241 + Missense_Mutation SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:38150241A>C ENST00000378505.2 - 13 1719 c.1543T>G c.(1543-1545)Tta>Gta p.L515V RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.L515V|RPGR_ENST00000318842.7_Missense_Mutation_p.L515V|RPGR_ENST00000309513.3_Missense_Mutation_p.L453V|RPGR_ENST00000339363.3_Missense_Mutation_p.L515V NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 515 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 GATAATTTTAATGACTTTTCA 0.239000 6 30 0 0 0.001984 0 0 ZNF146 7705 broad.mit.edu 37 19 36727471 36727471 + Silent SNP T T G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:36727471T>G ENST00000456324.1 + 3 1578 c.129T>G c.(127-129)ccT>ccG p.P43P ZNF146_ENST00000443387.2_Silent_p.P43P|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 43 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) GAGAGAAACCTTTTGAATGTA 0.418000 130 70 0 0 0.014410 0 0 DHX33 56919 broad.mit.edu 37 17 5365687 5365687 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:5365687C>T ENST00000225296.3 - 3 830 c.630G>A c.(628-630)gtG>gtA p.V210V DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 210 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTGCAGCTTTCACCACTCCAA 0.453000 38 19 0 0 0.004878 0 0 FAM47C 442444 broad.mit.edu 37 X 37029100 37029100 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:37029100G>C ENST00000358047.3 + 1 2669 c.2617G>C c.(2617-2619)Gac>Cac p.D873H NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 873 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CAGTCTGTTTGACTTTACCCC 0.458000 8 133 0 0 0.004482 0 0 RLF 6018 broad.mit.edu 37 1 40701823 40701823 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:40701823A>G ENST00000372771.4 + 8 1476 c.1449A>G c.(1447-1449)ttA>ttG p.L483L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 483 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ACCAACTTTTAGGACAAGAAG 0.403000 3 128 0 0 0.009096 0 0 ASB13 79754 broad.mit.edu 37 10 5691004 5691004 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:5691004T>C ENST00000357700.6 - 4 472 c.446A>G c.(445-447)cAt>cGt p.H149R ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 149 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) GGTCCCAAAATGGCAATCGTG 0.542000 34 118 0 0 0.003271 0 0 HCAR2 338442 broad.mit.edu 37 12 123187019 123187019 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:123187019G>A ENST00000328880.5 - 1 871 c.812C>T c.(811-813)tCg>tTg p.S271L HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 271 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CAGGTCCACCGAGCGGTACAC 0.542000 5 52 0 0 0.000602 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191526 185191526 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:185191526C>T ENST00000265026.3 + 11 2741 c.2407C>T c.(2407-2409)Cga>Tga p.R803* MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R803*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R659*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R596*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R659* NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 803 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGCGCTACCTCGAAAAACAAG 0.507000 11 213 0 0 0.001855 0 0 CELSR1 9620 broad.mit.edu 37 22 46929664 46929664 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:46929664G>C ENST00000262738.3 - 1 3403 c.3404C>G c.(3403-3405)tCa>tGa p.S1135* CELSR1_ENST00000395964.1_Nonsense_Mutation_p.S1135*|CELSR1_ENST00000497509.1_5'UTR NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1135 Cadherin 9. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGGCTGTCTGACACGTCGGG 0.617000 6 75 0 0 0.001984 0 0 CRP 1401 broad.mit.edu 37 1 159684367 159684367 + Translation_Start_Site SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:159684367G>C ENST00000255030.5 - 0 12 CRP_ENST00000368112.1_De_novo_Start_OutOfFrame|CRP_ENST00000437342.1_De_novo_Start_OutOfFrame|CRP_ENST00000368110.1_De_novo_Start_OutOfFrame|CRP_ENST00000343919.2_De_novo_Start_OutOfFrame|CRP_ENST00000368111.1_De_novo_Start_OutOfFrame NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGAAGTCCTAGATCTCTTGCC 0.458000 3 12 0 0 0.004672 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43937144 43937144 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:43937144C>G ENST00000282406.4 + 12 2092 c.1982C>G c.(1981-1983)tCt>tGt p.S661C NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 661 Ser-rich. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCTCTCTCCTCTGTGGCTTCT 0.458000 8 166 0 0 0.004482 0 0 RNF219 79596 broad.mit.edu 37 13 79219061 79219061 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:79219061A>G ENST00000282003.6 - 2 202 c.144T>C c.(142-144)aaT>aaC p.N48N NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 48 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ACTGGCTATTATTCTTCAACC 0.368000 20 66 0 0 0.008871 0 0 GDPD2 54857 broad.mit.edu 37 X 69646848 69646848 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:69646848G>A ENST00000453994.2 + 8 1050 c.689G>A c.(688-690)cGa>cAa p.R230Q GDPD2_ENST00000374382.3_Missense_Mutation_p.R230Q|GDPD2_ENST00000538649.1_Missense_Mutation_p.R151Q|GDPD2_ENST00000536730.1_Missense_Mutation_p.R151Q|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 230 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding p.R230Q(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) GTGGGACACCGAGGGGCCCCC 0.612000 7 34 0 0 0.001984 0 0 NUDT13 25961 broad.mit.edu 37 10 74879774 74879774 + Splice_Site SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:74879774A>C ENST00000357321.4 + 3 201 c.e3-1 NUDT13_ENST00000349051.5_Splice_Site|NUDT13_ENST00000488223.1_Splice_Site|NUDT13_ENST00000372997.3_Splice_Site|NUDT13_ENST00000544879.1_Splice_Site|NUDT13_ENST00000537969.1_Splice_Site NM_001283016.1|NM_015901.4 NP_001269945.1|NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) TCCCAAATACAGGTATTTATT 0.408000 5 41 0 0 0.000602 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68265271 68265271 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:68265271G>C ENST00000347230.4 - 11 1846 c.1708C>G c.(1708-1710)Ctg>Gtg p.L570V ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L570V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 570 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCCAGGCACAGAGAGTCAGGA 0.478000 5 47 0 0 0.000602 0 0 MYH13 8735 broad.mit.edu 37 17 10209797 10209797 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:10209797C>A ENST00000418404.3 - 36 5608 c.5445G>T c.(5443-5445)caG>caT p.Q1815H MYH13_ENST00000252172.4_Missense_Mutation_p.Q1815H|RP11-401O9.4_ENST00000609088.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1815 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTTTCTGGATCTGCTTCTTCC 0.537000 19 184 8.00594e-06 8.47458e-06 0.007413 1 0 CARD9 64170 broad.mit.edu 37 9 139266398 139266398 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:139266398C>T ENST00000371732.5 - 2 298 c.133G>A c.(133-135)Gag>Aag p.E45K CARD9_ENST00000371734.3_Missense_Mutation_p.E45K|CARD9_ENST00000315908.7_Missense_Mutation_p.E45K NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 45 CARD. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) ACCTGCTCCTCATCATCGGGG 0.637000 30 161 0 0 0.006320 0 0 S100A9 6280 broad.mit.edu 37 1 153333180 153333180 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:153333180G>A ENST00000368738.3 + 3 254 c.211G>A c.(211-213)Gac>Aac p.D71N NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 71 EF-hand 2. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CACAAATGCAGACAAGCAGCT 0.562000 37 53 0 0 0.005524 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144864265 144864265 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:144864265G>C ENST00000369359.4 - 39 6276 c.6238C>G c.(6238-6240)Caa>Gaa p.Q2080E PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1944E|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1838E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2029E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1944E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1944 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCAGCTCTTGAAGGTGGGAT 0.527000 T PDGFRB MPD 12 303 0 0 0.001855 0 0 UTP20 27340 broad.mit.edu 37 12 101686964 101686964 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:101686964G>A ENST00000261637.4 + 11 1366 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 398 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GAGCAGATTTGAAAAACGTTT 0.353000 15 39 0 0 0.002450 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696923 17696923 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:17696923C>G ENST00000399080.2 - 1 2783 c.2760G>C c.(2758-2760)aaG>aaC p.K920N NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 920 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CAGAGTCATTCTTTCTGTGAA 0.289000 9 35 0 0 0.006214 0 0 FAF2 23197 broad.mit.edu 37 5 175921066 175921066 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:175921066G>T ENST00000261942.6 + 6 603 c.550G>T c.(550-552)Gac>Tac p.D184Y NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 184 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TGATCACCAGGACTCTGATGA 0.398000 28 62 7.26314e-15 7.88051e-15 0.007291 1 0 BAGE2 85319 broad.mit.edu 37 21 11039216 11039216 + RNA SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:11039216G>C ENST00000470054.1 - 0 987 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGAGGCCTTGATTCTTCTTT 0.428000 5 239 0 0 0.000602 0 0 BMPR2 659 broad.mit.edu 37 2 203420028 203420028 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:203420028C>T ENST00000374580.4 + 12 2179 c.1640C>T c.(1639-1641)tCt>tTt p.S547F BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 547 Poly-Ser. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 CCAGATTATTCTTCCTCCTCA 0.383000 15 24 0 0 0.002450 0 0 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:88299660G>A ENST00000369536.5 - 1 61 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672000 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 15 33 0 0 0.004007 0 0 DNAJC17 55192 broad.mit.edu 37 15 41071455 41071455 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:41071455C>G ENST00000220496.4 - 4 291 c.261G>C c.(259-261)caG>caC p.Q87H NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 87 protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CATCAAGTTTCTGGGTCCTCT 0.507000 14 89 0 0 0.003163 0 0 TSGA10 80705 broad.mit.edu 37 2 99721848 99721848 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:99721848C>G ENST00000393483.3 - 9 1277 c.433G>C c.(433-435)Gag>Cag p.E145Q TSGA10_ENST00000542655.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E145Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E145Q NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 145 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TCCAGCTCCTCTATCCTTTGT 0.338000 3 46 0 0 0.004672 0 0 ZNF91 7644 broad.mit.edu 37 19 23545301 23545301 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23545301C>G ENST00000300619.7 - 4 685 c.480G>C c.(478-480)ttG>ttC p.L160F ZNF91_ENST00000397082.2_Missense_Mutation_p.L128F|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 160 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGAAGACTTTCAAATATTTCC 0.328000 15 51 0 0 0.003163 0 0 JADE3 9767 broad.mit.edu 37 X 46884244 46884244 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:46884244G>C ENST00000218343.4 + 5 701 c.403G>C c.(403-405)Gtt>Ctt p.V135L PHF16_ENST00000397189.1_Missense_Mutation_p.V135L NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 135 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGCAGCATCTGTTTGCCGCTA 0.468000 18 52 0 0 0.007413 0 0 FAM160A2 84067 broad.mit.edu 37 11 6232852 6232852 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6232852G>C ENST00000265978.4 - 12 3203 c.2845C>G c.(2845-2847)Ctc>Gtc p.L949V FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.L935V NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 935 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AACTCCTTGAGAAATTCAGGG 0.557000 21 89 0 0 0.014323 0 0 CENPF 1063 broad.mit.edu 37 1 214814564 214814564 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:214814564C>T ENST00000366955.3 + 12 3051 c.2883C>T c.(2881-2883)atC>atT p.I961I NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 961 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGAGTTCCATCATTTCTCTAA 0.353000 14 63 0 0 0.003163 0 0 INHA 3623 broad.mit.edu 37 2 220437228 220437228 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:220437228C>T ENST00000243786.2 + 1 312 c.132C>T c.(130-132)ccC>ccT p.P44P INHA_ENST00000489456.1_Intron NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 44 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGGGGCCCCCCGCGGTGACCA 0.687000 OREG0003991 type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 10 0 0 0.001984 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99057790 99057790 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:99057790C>G ENST00000413834.1 - 2 62 c.40G>C c.(40-42)Gag>Cag p.E14Q ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000544611.1_Missense_Mutation_p.E14Q|ATP5J2_ENST00000449683.1_Missense_Mutation_p.E24Q|ATP5J2_ENST00000292475.3_Missense_Mutation_p.E20Q|ATP5J2_ENST00000359832.4_Missense_Mutation_p.E20Q|PTCD1_ENST00000555673.1_Missense_Mutation_p.E14Q|ATP5J2_ENST00000488775.1_Missense_Mutation_p.E14Q|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000394186.3_Missense_Mutation_p.E14Q B4DJ38 B4DJ38_HUMAN 14 AGTTTGACCTCCAGAAGTTTC 0.483000 30 157 0 0 0.009535 0 0 C17orf53 78995 broad.mit.edu 37 17 42232692 42232692 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42232692C>A ENST00000319977.4 + 8 1923 c.1686C>A c.(1684-1686)ctC>ctA p.L562L C17orf53_ENST00000585683.1_Silent_p.L561L|C17orf53_ENST00000245382.6_Silent_p.L486L NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 562 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) ATCACTACCTCAACGTGACAC 0.527000 4 103 2.56e-06 2.72314e-06 0.009096 1 0 CORO1A 11151 broad.mit.edu 37 16 30199708 30199708 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:30199708C>A ENST00000219150.5 + 10 1397 c.1092C>A c.(1090-1092)taC>taA p.Y364* CORO1A_ENST00000570045.1_Nonsense_Mutation_p.Y364*|CORO1A_ENST00000565497.1_Intron NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 364 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 AGGACCTGTACCCACCCACCG 0.647000 30 94 6.05902e-23 6.62371e-23 0.003755 1 0 PPP3R2 5535 broad.mit.edu 37 9 104357001 104357001 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:104357001C>G ENST00000374806.1 - 1 282 c.212G>C c.(211-213)gGa>gCa p.G71A GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 68 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GTCCACTTCTCCATCACCGTC 0.577000 15 86 0 0 0.002450 0 0 PCDH15 65217 broad.mit.edu 37 10 55581860 55581860 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:55581860G>C ENST00000361849.3 - 34 6026 c.5632C>G c.(5632-5634)Cag>Gag p.Q1878E PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1807E|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1873E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q730E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q1876E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1853E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1836E NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1876 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGTTCTCTCTGAGGGTCTGTT 0.388000 HNSCC(58;0.16) 58 67 0 0 0.014410 0 0 OR1J2 26740 broad.mit.edu 37 9 125273495 125273495 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:125273495G>C ENST00000335302.5 + 1 415 c.415G>C c.(415-417)Gag>Cag p.E139Q NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CATGAGGGAAGAGCTCTGTGT 0.478000 8 51 0 0 0.003080 0 0 MED12 9968 broad.mit.edu 37 X 70338701 70338701 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:70338701G>A ENST00000333646.6 + 1 296 c.97G>A c.(97-99)Gag>Aag p.E33K MED12_ENST00000374102.1_Missense_Mutation_p.E33K|MED12_ENST00000374080.3_Missense_Mutation_p.E33K NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 33 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CAAACAGAAGGAGGTGCGTTC 0.677000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 5 9 0 0 0.001168 0 0 KALRN 8997 broad.mit.edu 37 3 124066028 124066028 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:124066028C>A ENST00000360013.3 + 10 1807 c.1680C>A c.(1678-1680)ctC>ctA p.L560L KALRN_ENST00000240874.3_Silent_p.L560L|KALRN_ENST00000460856.1_Silent_p.L560L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 560 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGGCCTTTCTCAGCAAACACA 0.493000 36 141 6.2361e-21 6.80017e-21 0.007835 1 0 ASXL3 80816 broad.mit.edu 37 18 31323516 31323516 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:31323516C>T ENST00000269197.5 + 12 3704 c.3704C>T c.(3703-3705)tCt>tTt p.S1235F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1235 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATAAAAATTCTGTCCCTGTA 0.373000 8 128 0 0 0.003080 0 0 SPAG17 200162 broad.mit.edu 37 1 118640369 118640379 + Frame_Shift_Del DEL AGATTTGTTTC AGATTTGTTTC - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:118640369_118640379delAGATTTGTTTC ENST00000336338.5 - 7 990_1000 c.925_935delGAAACAAATCT c.(925-936)gaaacaaatctcfs p.ETNL309fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 309 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AACATCAAAGAGATTTGTTTCAGGTTTCTCA 0.374 17 37 --- --- --- --- TSSC1 7260 broad.mit.edu 37 2 3197914 3197915 + In_Frame_Ins INS - - CAT TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:3197914_3197915insCAT ENST00000398659.4 - 8 897_898 c.757_758insATG c.(757-759)gcc>gATGcc p.252_253insD TSSC1_ENST00000478754.1_De_novo_Start_InFrame|TSSC1_ENST00000382125.4_In_Frame_Ins_p.225_226insD Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 225 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CTGTCCGTGGGCATTCTCTATG 0.515 35 96 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aaafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 8 261 --- --- --- --- VGLL4 9686 broad.mit.edu 37 3 11744444 11744444 + Splice_Site DEL C C - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:11744444delC ENST00000273038.3 - 2 430 c.e2+1 VGLL4_ENST00000404339.1_Splice_Site NM_001284391.1|NM_014667.2 NP_001271320.1|NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) TCCTCACTTACGTTTTTCGTC 0.418 13 16 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135004 27135010 + Frame_Shift_Del DEL ATACGTA ATACGTA - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:27135004_27135010delATACGTA ENST00000343060.4 - 1 583_589 c.522_528delTACGTAT c.(520-528)gctacgtatfs p.ATY174fs HOXA1_ENST00000355633.5_Intron NM_005522.4 NP_005513 P49639 HXA1_HUMAN homeobox A1 174 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AGGAGTTATTATACGTAGCCAGGGCCA 0.580 51 129 --- --- --- --- ZCCHC8 55596 broad.mit.edu 37 12 122958340 122958340 + Frame_Shift_Del DEL C C - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:122958340delC ENST00000543897.1 - 12 3469 c.1114delG c.(1114-1116)gaafs p.E372fs ZCCHC8_ENST00000336229.4_Frame_Shift_Del_p.E610fs|ZCCHC8_ENST00000536306.1_Frame_Shift_Del_p.E372fs|ZCCHC8_ENST00000538116.1_Frame_Shift_Del_p.E221fs Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 610 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TCTGCTTTTTCCTTCTGACAA 0.493 7 262 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 6 --- --- --- --- ARHGAP27 201176 broad.mit.edu 37 17 43473589 43473589 + Frame_Shift_Del DEL G G - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:43473589delG ENST00000532038.1 - 13 1704 c.1569delC c.(1567-1569)cgcfs p.R523fs ARHGAP27_ENST00000442348.1_Frame_Shift_Del_p.R718fs|ARHGAP27_ENST00000428638.1_Frame_Shift_Del_p.R745fs|ARHGAP27_ENST00000376922.2_Frame_Shift_Del_p.R404fs|ARHGAP27_ENST00000455881.1_Frame_Shift_Del_p.R404fs|ARHGAP27_ENST00000532891.2_Frame_Shift_Del_p.R723fs|ARHGAP27_ENST00000528384.1_Frame_Shift_Del_p.R377fs Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 745 PH. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CCACCTTATAGCGTAGCTTCT 0.647 32 57 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 7 152 --- --- --- ---