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 FAM60A 58516 broad.mit.edu 37 12 31446788 31446788 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:31446788C>G ENST00000337682.4 - 4 674 c.306G>C c.(304-306)agG>agC p.R102S FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.R102S|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 102 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) TGCTTTTTATCCTGTTCCCAG 0.333000 7 35 0 0 1 0 0 CTRB2 440387 broad.mit.edu 37 16 75238077 75238077 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:75238077C>G ENST00000303037.8 - 7 817 c.774G>C c.(772-774)aaG>aaC p.K258N NM_001025200.3 NP_001020371.3 Q6GPI1 CTRB2_HUMAN chymotrypsinogen B2 258 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity endometrium(1)|large_intestine(1)|lung(2) 4 CGGCCAGGATCTTCTGCACCC 0.607000 10 141 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130846097 130846097 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:130846097C>T ENST00000245255.3 + 16 2193 c.1921C>T c.(1921-1923)Cgg>Tgg p.R641W NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 641 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GACAGCTGGGCGGAGGTCAAT 0.478000 17 130 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183288 11183288 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:11183288G>C ENST00000390675.2 - 1 718 c.647C>G c.(646-648)tCt>tGt p.S216C TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 216 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GGGATCTTGAGATCCTTTACC 0.408000 21 283 0 0 1 0 0 SHROOM1 134549 broad.mit.edu 37 5 132160002 132160002 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:132160002C>G ENST00000378679.3 - 7 2155 c.1351G>C c.(1351-1353)Gat>Cat p.D451H SHROOM1_ENST00000378676.1_Missense_Mutation_p.D382H|SHROOM1_ENST00000319854.3_Missense_Mutation_p.D451H NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 451 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCAGTCATCTGCCCCTGCA 0.557000 6 38 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102946423 102946423 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:102946423G>C ENST00000504592.1 + 13 1724 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q BANK1_ENST00000428908.1_Missense_Mutation_p.E318Q|BANK1_ENST00000444316.2_Missense_Mutation_p.E421Q|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000322953.4_Missense_Mutation_p.E451Q|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Missense_Mutation_p.E318Q Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 451 H -> R (in Ref. 1; BAB79255). B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGATGGAGCTGAGGCAAATGA 0.453000 14 118 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458397 248458397 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:248458397G>T ENST00000317996.1 - 1 483 c.484C>A c.(484-486)Ctg>Atg p.L162M NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGGAAGCTCAGGGTAGCAACA 0.577000 8 193 0.00307968 0.00312888 1 1 0 SRGAP1 57522 broad.mit.edu 37 12 64485155 64485155 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:64485155C>G ENST00000355086.3 + 12 2060 c.1536C>G c.(1534-1536)gtC>gtG p.V512V SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 512 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAACATTCGTCAAGGTACTGG 0.483000 6 46 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21920404 21920404 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:21920404A>G ENST00000328843.6 + 76 12332 c.12301A>G c.(12301-12303)Aga>Gga p.R4101G DNAH11_ENST00000409508.3_Missense_Mutation_p.R4094G Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4101 AAA 6 (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 TGTTGCTGGGAGACTGAGGTT 0.478000 Kartagener syndrome 11 120 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79426591 79426591 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:79426591C>G ENST00000307745.7 + 27 5866 c.5866C>G c.(5866-5868)Cag>Gag p.Q1956E CTACTGGAGTCAGAAGTCTCG 0.657000 14 98 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125889616 125889616 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:125889616C>G ENST00000392693.3 - 4 521 c.394G>C c.(394-396)Gaa>Caa p.E132Q CDON_ENST00000263577.7_Missense_Mutation_p.E132Q NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 132 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTTTTTTCTTCTGCTGTAATA 0.393000 25 132 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73167853 73167853 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:73167853T>C ENST00000377110.3 - 23 3688 c.3445A>G c.(3445-3447)Atc>Gtc p.I1149V TRPM3_ENST00000396280.5_Missense_Mutation_p.I998V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1176V|TRPM3_ENST00000377111.2_Missense_Mutation_p.I1149V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1021V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1153V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1021V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1008V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1008V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1011V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1008V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1011V Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTGAAGATGATCAGTGGTGGG 0.483000 22 202 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223087 67223087 + Missense_Mutation SNP G G A rs149056460 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:67223087G>A ENST00000325656.5 + 1 270 c.193G>A c.(193-195)Gag>Aag p.E65K CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 65 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GACAGGCCCCGAGGCCCCGGG 0.701000 3 24 0 0 1 0 0 SLC22A24 283238 broad.mit.edu 37 11 62910866 62910866 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:62910866G>C ENST00000417740.1 - 1 827 c.386C>G c.(385-387)tCc>tGc p.S129C SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.S129C NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 CACGATGGTGGAGAGGAAAGA 0.458000 3 21 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080660 152080660 + Missense_Mutation SNP T T G rs71585886 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152080660T>G ENST00000368804.1 - 2 5032 c.5033A>C c.(5032-5034)gAa>gCa p.E1678A NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1678 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCCTTCCTGGAGCAG 0.597000 17 170 0 0 1 0 0 C7orf50 84310 broad.mit.edu 37 7 1037363 1037363 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:1037363C>G ENST00000397098.3 - 5 1409 c.483G>C c.(481-483)caG>caC p.Q161H C7orf50_ENST00000357429.6_Missense_Mutation_p.Q161H|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.Q161H Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 161 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) CTTCCGCCTTCTGCACCGTCA 0.672000 12 116 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784366 82784366 + Missense_Mutation SNP A A G rs112239934 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:82784366A>G ENST00000333891.9 - 2 1928 c.1591T>C c.(1591-1593)Tct>Cct p.S531P PCLO_ENST00000423517.2_Missense_Mutation_p.S531P NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein Pro-rich. 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 GGCTGTTGAGATGGGGGTTTT 0.557000 8 357 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16359644 16359644 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:16359644C>G ENST00000354981.2 - 19 3160 c.3003G>C c.(3001-3003)caG>caC p.Q1001H KIF16B_ENST00000378003.2_Missense_Mutation_p.Q227H|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1001H|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1001H NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1001 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCGCCTCTCTCTGCTGCTTCT 0.552000 18 164 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160757993 160757993 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:160757993A>G ENST00000274547.2 - 9 1191 c.974T>C c.(973-975)cTa>cCa p.L325P GABRB2_ENST00000520240.1_Missense_Mutation_p.L325P|GABRB2_ENST00000517901.1_Missense_Mutation_p.L262P|GABRB2_ENST00000353437.6_Missense_Mutation_p.L325P|GABRB2_ENST00000393959.1_Missense_Mutation_p.L325P|GABRB2_ENST00000517547.1_Missense_Mutation_p.L165P NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 325 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTAGTTGACTAGGGCATATTC 0.512000 21 93 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242169088 242169088 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:242169088G>A ENST00000391975.1 - 28 3962 c.3735C>T c.(3733-3735)agC>agT p.S1245S HDLBP_ENST00000391976.2_Silent_p.S1245S|HDLBP_ENST00000310931.4_Silent_p.S1245S|HDLBP_ENST00000427183.2_Silent_p.S1212S NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1245 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CCTCAGAGCTGCTCATGTCAG 0.582000 6 43 0 0 1 0 0 NTN1 9423 broad.mit.edu 37 17 8925911 8925911 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:8925911C>T ENST00000173229.2 + 2 328 c.221C>T c.(220-222)cCg>cTg p.P74L NTN1_ENST00000546090.1_Missense_Mutation_p.P74L|NTN1_ENST00000538852.1_Missense_Mutation_p.P74L NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 74 Laminin N-terminal. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 GGCCGGCCCCCGGCGCGCTAC 0.726000 3 10 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142161801 142161801 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:142161801C>T ENST00000519811.1 + 7 1009 c.939C>T c.(937-939)ttC>ttT p.F313F DENND3_ENST00000262585.2_Silent_p.F233F|DENND3_ENST00000424248.1_Silent_p.F233F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 233 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CTGAGTGCTTCATGGCCTACC 0.602000 36 168 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278974 36278974 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:36278974C>T ENST00000007510.4 + 21 3651 c.3507C>T c.(3505-3507)taC>taT p.Y1169Y ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y O14559 RHG33_HUMAN Rho GTPase activating protein 33 1169 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AGCCCCTCTACGTCAACCTAG 0.682000 15 80 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12378341 12378341 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:12378341C>T ENST00000358136.3 + 31 7491 c.7361C>T c.(7360-7362)tCt>tTt p.S2454F VPS13D_ENST00000356315.4_Missense_Mutation_p.S2454F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2454 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) ACCAAGCGGTCTTCCCTTCCT 0.443000 11 93 0 0 1 0 0 STMN4 81551 broad.mit.edu 37 8 27099982 27099982 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:27099982G>A ENST00000350889.4 - 3 154 c.41C>T c.(40-42)cCg>cTg p.P14L STMN4_ENST00000523048.1_Missense_Mutation_p.P14L|STMN4_ENST00000519614.1_Missense_Mutation_p.P14L|STMN4_ENST00000522908.1_Missense_Mutation_p.P14L|STMN4_ENST00000265770.7_Missense_Mutation_p.P14L|STMN4_ENST00000519997.1_Missense_Mutation_p.P5L NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 14 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) GGACACCAGCGGGAGCTCCTT 0.567000 9 47 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91691704 91691704 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:91691704G>C ENST00000359028.2 + 25 6142 c.5917G>C c.(5917-5919)Gaa>Caa p.E1973Q AKAP9_ENST00000356239.3_Missense_Mutation_p.E1961Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1973Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1973 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGGTTGCAAGAATTGGAGGC 0.403000 T BRAF papillary thyroid 9 120 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128767935 128767935 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:128767935G>C ENST00000357702.5 - 7 986 c.855C>G c.(853-855)atC>atG p.I285M SAP130_ENST00000259234.6_Missense_Mutation_p.I259M|SAP130_ENST00000259235.3_Missense_Mutation_p.I285M NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 285 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CAGCAGGAGGGATGGCATTGG 0.448000 4 94 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540297 169540297 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:169540297C>T ENST00000340806.6 + 1 588 c.588C>T c.(586-588)gaC>gaT p.D196D NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 196 p.D196D(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGACCTGGACGAGAACAAAA 0.517000 12 142 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7768927 7768927 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:7768927G>A ENST00000358415.4 + 10 1165 c.999G>A c.(997-999)atG>atA p.M333I ITIH2_ENST00000379587.4_Missense_Mutation_p.M322I NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 333 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TGGAAGCAATGAAGACCATAT 0.393000 5 70 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 105 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119300685 119300685 + Splice_Site SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:119300685T>C ENST00000338891.7 - 11 2745 c.e11-2 FAM184A_ENST00000368475.4_Splice_Site|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTCAAGAGCCTAGAACAAGAC 0.328000 4 31 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8086418 8086418 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:8086418A>T ENST00000075120.7 - 2 336 c.96T>A c.(94-96)aaT>aaA p.N32K NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 32 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TCTCAGGAGCATTGATGACCC 0.453000 OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 73 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213361 67213361 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67213361C>G ENST00000290881.7 - 5 1745 c.819G>C c.(817-819)tgG>tgC p.W273C KIAA0895L_ENST00000561621.1_Missense_Mutation_p.W273C|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.W273C Q68EN5 K895L_HUMAN KIAA0895-like 273 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 TGCCCTCCAACCAGTACTGGC 0.627000 11 105 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440476 145440476 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440476G>C ENST00000369317.4 + 5 1116 c.782G>C c.(781-783)aGg>aCg p.R261T TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 261 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGAAGATCAGGCCTTCTATC 0.488000 25 186 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230132 140230132 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:140230132G>T ENST00000378122.3 + 1 2776 c.2052G>T c.(2050-2052)gtG>gtT p.V684V PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V684V|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGTCAGTGGGTGCCACGG 0.652000 26 117 3.28513e-13 3.58993e-13 1 1 0 DNAJC16 23341 broad.mit.edu 37 1 15894468 15894468 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15894468G>C ENST00000375847.3 + 15 2309 c.2145G>C c.(2143-2145)aaG>aaC p.K715N DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Intron NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 715 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGCCCCAAAAGACAGTCGAAG 0.488000 12 100 0 0 1 0 0 YWHAZ 7534 broad.mit.edu 37 8 101932934 101932934 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:101932934C>G ENST00000395957.2 - 7 1066 c.725G>C c.(724-726)gGa>gCa p.G242A YWHAZ_ENST00000395953.2_Missense_Mutation_p.G242A|YWHAZ_ENST00000457309.1_Missense_Mutation_p.G242A|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G122A|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G242A|YWHAZ_ENST00000395956.3_Missense_Mutation_p.G242A|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G242A|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G165A|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G167A|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G122A|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G242A|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G242A P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 242 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) ATTTTCCCCTCCTTCTCCTGC 0.453000 6 88 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46407836 46407836 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:46407836A>G ENST00000433765.2 - 1 271 c.272T>C c.(271-273)gTg>gCg p.V91A NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 91 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GATGATGTACACGGTGTAGAG 0.577000 10 62 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 691231 691231 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:691231C>T ENST00000383578.3 - 5 427 c.223G>A c.(223-225)Gat>Aat p.D75N ENOSF1_ENST00000251101.7_Missense_Mutation_p.D157N|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D178N|ENOSF1_ENST00000580982.1_Intron NM_001126123.3 NP_001119595.1 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 157 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 GTCAGGACATCAGTGATGTAC 0.483000 5 83 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56098314 56098314 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:56098314C>T ENST00000608263.1 - 2 1225 c.564G>A c.(562-564)aaG>aaA p.K188K CTCFL_ENST00000608440.1_Silent_p.K188K|CTCFL_ENST00000429804.3_Silent_p.K188K|CTCFL_ENST00000422869.2_Silent_p.K188K|CTCFL_ENST00000432255.2_Silent_p.K188K|CTCFL_ENST00000243914.3_Silent_p.K188K|CTCFL_ENST00000433949.3_5'UTR|CTCFL_ENST00000423479.3_Silent_p.K188K|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000608425.1_Silent_p.K188K|CTCFL_ENST00000609232.1_Silent_p.K188K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K188K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000481655.2_Silent_p.K188K|CTCFL_ENST00000371196.2_Silent_p.K188K NM_001269041.1 NP_001255970.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ATAACTGGTTCTTCTCCTGCT 0.353000 11 74 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671724 125671724 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:125671724G>C ENST00000431078.1 + 24 4144 c.3780G>C c.(3778-3780)cgG>cgC p.R1260R NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1260 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) TCATGACCCGGTTCCTCTACC 0.453000 8 160 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123554332 123554332 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:123554332G>A ENST00000422452.2 - 25 4874 c.4811C>T c.(4810-4812)cCg>cTg p.P1604L STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.P1597L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AAGCCATAGCGGCATTCCGCC 0.493000 3 42 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56745131 56745131 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:56745131C>T ENST00000314128.4 - 9 909 c.886G>A c.(886-888)Ggg>Agg p.G296R STAT2_ENST00000418572.2_Missense_Mutation_p.G292R|STAT2_ENST00000557235.1_Missense_Mutation_p.G292R P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 296 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 AGGTCCACCCCTTTGGTCAGA 0.572000 27 306 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684108 41684108 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:41684108C>G ENST00000400454.1 - 9 2439 c.1962G>C c.(1960-1962)ttG>ttC p.L654F NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 654 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAAATCCTCAAGGAGCTCG 0.547000 6 133 0 0 1 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7993281 7993281 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:7993281G>A ENST00000377507.3 - 7 786 c.620C>T c.(619-621)aCg>aTg p.T207M NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 207 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GAAACGGAGCGTGAGGAAGAA 0.448000 5 40 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8152753 8152753 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:8152753C>G ENST00000600128.1 - 53 6989 c.6575G>C c.(6574-6576)tGt>tCt p.C2192S FBN3_ENST00000270509.2_Missense_Mutation_p.C2192S|FBN3_ENST00000601739.1_Missense_Mutation_p.C2192S Q75N90 FBN3_HUMAN fibrillin 3 2192 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCCGGCTGGACAGGTGCACAG 0.567000 12 157 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102337572 102337572 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:102337572G>A ENST00000369138.1 + 11 2072 c.1582G>A c.(1582-1584)Gac>Aac p.D528N GRIK2_ENST00000413795.1_Missense_Mutation_p.D528N|GRIK2_ENST00000421544.1_Missense_Mutation_p.D528N|GRIK2_ENST00000369134.4_Missense_Mutation_p.D479N|GRIK2_ENST00000369137.3_Missense_Mutation_p.D528N|GRIK2_ENST00000318991.6_Missense_Mutation_p.D528N NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 528 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.D528N(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GAAGGTCATCGACTTTTCCAA 0.423000 14 124 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125850958 125850958 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:125850958G>A ENST00000392693.3 - 17 3389 c.3262C>T c.(3262-3264)Cat>Tat p.H1088Y CDON_ENST00000531738.1_Missense_Mutation_p.H465Y|CDON_ENST00000263577.7_Missense_Mutation_p.H1088Y NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1088 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ACTAGATGATGAGGATGTTCA 0.463000 33 85 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72172115 72172115 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:72172115C>G ENST00000356056.5 - 30 6158 c.5686G>C c.(5686-5688)Gcc>Ccc p.A1896P MYO9A_ENST00000444904.1_Missense_Mutation_p.A1877P|MYO9A_ENST00000564571.1_Missense_Mutation_p.A1896P|MYO9A_ENST00000424560.1_Missense_Mutation_p.A1967P NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1896 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCCTTCAGGGCTTTTTTAAAT 0.373000 8 58 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3146671 3146671 + Silent SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:3146671A>C ENST00000329152.3 - 2 2192 c.795T>G c.(793-795)ggT>ggG p.G265G LZTS3_ENST00000337576.5_Silent_p.G265G|LZTS3_ENST00000360342.3_Silent_p.G265G CCGACCCCCCACCGCTGCTGC 0.657000 6 46 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55566659 55566659 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:55566659C>G ENST00000436346.1 - 13 2300 c.1459G>C c.(1459-1461)Gaa>Caa p.E487Q CCDC88A_ENST00000263630.8_Missense_Mutation_p.E487Q|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E487Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E487Q|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 487 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GCATTGCCTTCTACAGAATCC 0.323000 5 61 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141050834 141050834 + Nonsense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:141050834G>C ENST00000239440.4 - 13 2053 c.1988C>G c.(1987-1989)tCa>tGa p.S663* ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.S325* NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 663 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGAATGACCTGAGGGCAAGAG 0.572000 13 71 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633771 116633771 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:116633771C>A ENST00000260210.4 - 4 557 c.534G>T c.(532-534)agG>agT p.R178S BUD13_ENST00000375445.3_Missense_Mutation_p.R178S NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 178 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GACGGATCCTCCTGGGAGGAG 0.582000 33 215 6.04164e-23 6.67098e-23 1 1 0 ATM 472 broad.mit.edu 37 11 108218071 108218071 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:108218071G>C ENST00000278616.4 + 59 9035 c.8650G>C c.(8650-8652)Gaa>Caa p.E2884Q C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2884Q|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2884 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCAGTCAGCAGAACTTGTACA 0.313000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 11 26 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42910494 42910494 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:42910494C>T ENST00000244289.4 - 7 2460 c.2184G>A c.(2182-2184)ggG>ggA p.G728G LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 728 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGCAGAGGTTCCCGCCTGCAC 0.662000 7 42 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68009821 68009821 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:68009821G>A ENST00000268793.4 - 10 1762 c.1389C>T c.(1387-1389)ctC>ctT p.L463L NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 438 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TCTGAGGCACGAGGTGGGAGT 0.602000 7 55 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47092454 47092454 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:47092454C>T ENST00000377107.2 + 1 366 c.12C>T c.(10-12)gtC>gtT p.V4V USP11_ENST00000218348.3_Silent_p.V47V P51784 UBP11_HUMAN ubiquitin specific peptidase 11 47 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 tggcgacggtcgcagcaaatc 0.647000 7 16 0 0 1 0 0 MBNL2 10150 broad.mit.edu 37 13 97986694 97986694 + Splice_Site SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:97986694G>T ENST00000345429.6 + 3 1120 c.339G>T c.(337-339)gtG>gtT p.V113V MBNL2_ENST00000343600.4_Splice_Site_p.V113V|MBNL2_ENST00000376673.3_Splice_Site_p.V113V|MBNL2_ENST00000397601.1_Splice_Site_p.V113V|MBNL2_ENST00000445661.2_Splice_Site_p.V113V NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 113 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) TTCATCCAGTGGTGAGTACAT 0.433000 3 56 0.004672 0.00473152 1 1 0 FBXW7 55294 broad.mit.edu 37 4 153247165 153247165 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:153247165G>A ENST00000281708.4 - 10 2866 c.1637C>T c.(1636-1638)tCa>tTa p.S546L FBXW7_ENST00000603548.1_Missense_Mutation_p.S546L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S546L|FBXW7_ENST00000393956.3_Missense_Mutation_p.S370L|FBXW7_ENST00000296555.5_Missense_Mutation_p.S428L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S466L NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 546 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTGTAATGAATAGACTCT 0.398000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 13 86 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113299395 113299395 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:113299395T>A ENST00000297405.5 - 58 9473 c.9229A>T c.(9229-9231)Act>Tct p.T3077S CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3077 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAACGTACAGTACTTTTAGTT 0.473000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 130 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167320 140167320 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:140167320C>T ENST00000504120.2 + 1 1445 c.1445C>T c.(1444-1446)gCg>gTg p.A482V PCDHA1_ENST00000394633.3_Missense_Mutation_p.A482V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A482V NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGACGCGGACGCGCAG 0.657000 9 173 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12863643 12863643 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:12863643C>T ENST00000155926.4 + 2 1947 c.528C>T c.(526-528)ctC>ctT p.L176L TRIB2_ENST00000405331.3_Silent_p.L176L|TRIB2_ENST00000381465.2_Silent_p.L40L NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 176 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGCGGGACCTCAAGCTGCGGA 0.562000 12 89 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259449 55259449 + Missense_Mutation SNP G G A rs146121458 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:55259449G>A ENST00000275493.2 + 21 2684 c.2507G>A c.(2506-2508)cGc>cAc p.R836H EGFR_ENST00000454757.2_Missense_Mutation_p.R783H|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.R791H NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 836 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R836H(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTGGTGCACCGCGACCTGGCA 0.537000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 10 117 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111408294 111408294 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:111408294G>C ENST00000535254.1 - 17 2039 c.1972C>G c.(1972-1974)Ctg>Gtg p.L658V BUB1_ENST00000409311.1_Missense_Mutation_p.L678V|BUB1_ENST00000302759.6_Missense_Mutation_p.L678V NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 678 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGCTGGCTCAGACGAAGTAAG 0.502000 3 48 0 0 1 0 0 SMAD7 4092 broad.mit.edu 37 18 46476250 46476250 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:46476250G>C ENST00000262158.2 - 1 831 c.545C>G c.(544-546)tCt>tGt p.S182C SMAD7_ENST00000589634.1_Missense_Mutation_p.S182C NM_001190821.1|NM_005904.3 NP_001177750.1|NP_005895.1 O15105 SMAD7_HUMAN SMAD family member 7 182 MH1. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) CTTCCCGTAAGATTCACAGCA 0.572000 OREG0024975 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 53 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125798151 125798151 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:125798151G>T ENST00000346248.5 - 5 1712 c.1070C>A c.(1069-1071)gCc>gAc p.A357D CHST15_ENST00000435907.1_Missense_Mutation_p.A357D|CHST15_ENST00000421115.1_Missense_Mutation_p.A357D NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 357 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GAACGTCCAGGCATTATTATC 0.547000 10 52 3.86212e-05 4.0005e-05 1 1 0 XIRP1 165904 broad.mit.edu 37 3 39230134 39230134 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:39230134G>T ENST00000340369.3 - 2 1031 c.803C>A c.(802-804)tCt>tAt p.S268Y XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S268Y NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 268 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCAGCGGGCAGACCTCACCGC 0.662000 23 91 1.22574e-08 1.31684e-08 1 1 0 FTSJ2 29960 broad.mit.edu 37 7 2274900 2274900 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:2274900G>C ENST00000242257.8 - 3 626 c.598C>G c.(598-600)Caa>Gaa p.Q200E FTSJ2_ENST00000407040.1_Missense_Mutation_p.Q106E|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 200 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CGACGGCTTTGACTTCCAGCC 0.507000 15 105 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48360997 48360997 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:48360997C>T ENST00000429772.2 + 7 722 c.609C>T c.(607-609)ttC>ttT p.F203F TMEM106C_ENST00000449758.2_Silent_p.F184F|TMEM106C_ENST00000552546.1_Silent_p.F132F|TMEM106C_ENST00000552561.1_Silent_p.F203F|TMEM106C_ENST00000256686.6_Silent_p.F184F|TMEM106C_ENST00000550552.1_Silent_p.F184F|TMEM106C_ENST00000549288.1_Intron NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 203 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) GTAGCTTCTTCTGCACGGTAC 0.488000 45 215 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668370 59668370 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:59668370C>T ENST00000521764.1 - 1 193 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 58 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TCATCAATTTCAGCTGCTGCC 0.493000 37 165 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42171034 42171034 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:42171034T>A ENST00000225983.6 - 4 589 c.266A>T c.(265-267)cAg>cTg p.Q89L HDAC5_ENST00000336057.5_Missense_Mutation_p.Q88L|HDAC5_ENST00000586802.1_Missense_Mutation_p.Q88L|HDAC5_ENST00000393622.2_Missense_Mutation_p.Q88L Q9UQL6 HDAC5_HUMAN histone deacetylase 5 88 Poly-Gln. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) cttctgcagctgctgctgctg 0.622000 3 32 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111408235 111408235 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:111408235A>G ENST00000535254.1 - 17 2098 c.2031T>C c.(2029-2031)gcT>gcC p.A677A BUB1_ENST00000409311.1_Silent_p.A697A|BUB1_ENST00000302759.6_Silent_p.A697A NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 697 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGAGTCTGCAAGCCTCAACGC 0.537000 4 39 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35387983 35387983 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:35387983C>G ENST00000311565.4 + 5 559 c.210C>G c.(208-210)ctC>ctG p.L70L PPARD_ENST00000540939.1_Intron|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Silent_p.L70L|PPARD_ENST00000448077.2_Silent_p.L31L|PPARD_ENST00000337400.2_Silent_p.L70L|PPARD_ENST00000360694.3_Silent_p.L70L NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 70 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GCGGCAGCCTCAACATGGAGT 0.652000 12 71 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44416554 44416554 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:44416554C>G ENST00000243938.4 - 4 362 c.279G>C c.(277-279)gaG>gaC p.E93D WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372630.2_Intron NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 93 WAP 2. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) CTGGACATGTCTCATCAGTGA 0.463000 6 73 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476278 32476278 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:32476278G>C ENST00000404025.2 - 5 1143 c.655C>G c.(655-657)Caa>Gaa p.Q219E NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q219E|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q219E Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 219 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCCAGGAGTTGATCACAGAGG 0.517000 15 71 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136324257 136324257 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:136324257G>A ENST00000371929.3 + 29 4683 c.4239G>A c.(4237-4239)ccG>ccA p.P1413P ADAMTS13_ENST00000355699.2_Silent_p.P1357P|ADAMTS13_ENST00000371910.1_Silent_p.P209P|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.P1326P NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1413 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CATGGGTACCGGAGATGCAGG 0.597000 3 27 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31439030 31439030 + Nonsense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:31439030G>A ENST00000373747.3 - 13 1987 c.1888C>T c.(1888-1890)Cag>Tag p.Q630* PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q485*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q387*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q570*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q629*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q665*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.Q629*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q603* NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 629 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) ggctggggctgaggctgCTGT 0.537000 29 98 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45656023 45656023 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:45656023G>A ENST00000317951.4 - 4 1671 c.1672C>T c.(1672-1674)Cgc>Tgc p.R558C NKPD1_ENST00000429338.1_Missense_Mutation_p.R336C|NKPD1_ENST00000589776.1_Missense_Mutation_p.R336C|NKPD1_ENST00000438936.2_Missense_Mutation_p.R336C NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CACGGCTTGCGCGTCATCTCG 0.721000 5 16 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756220 49756220 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:49756220G>A ENST00000535833.1 - 10 4129 c.679C>T c.(679-681)Ctc>Ttc p.L227F GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.L227F Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 227 LRRCT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGTGGTAGAGGCGGCAGTCG 0.657000 8 86 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395912 47395912 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:47395912C>G ENST00000310638.4 - 12 1466 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q CYP4A11_ENST00000462347.1_Missense_Mutation_p.E381Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E480Q NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 479 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGCAGCAGCTCAAAGCGGAGC 0.547000 11 151 0 0 1 0 0 MTHFSD 64779 broad.mit.edu 37 16 86565621 86565621 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:86565621T>C ENST00000322911.6 - 8 1195 c.1145A>G c.(1144-1146)aAg>aGg p.K382R MTHFSD_ENST00000546093.1_Missense_Mutation_p.K220R|MTHFSD_ENST00000381214.5_Missense_Mutation_p.K383R|MTHFSD_ENST00000360900.6_Missense_Mutation_p.K383R|MTHFSD_ENST00000543303.2_Missense_Mutation_p.K382R NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 383 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 ACGAGGTCACTTGTCCCTCTG 0.701000 3 18 0 0 1 0 0 MIR520H 574493 broad.mit.edu 37 19 54245814 54245814 + RNA SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:54245814G>A ENST00000385126.1 + 0 49 NR_030215.1 TGTTGTCTGAGAAAAAACAAA 0.413000 15 83 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92703069 92703069 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:92703069C>T ENST00000257068.2 + 1 184 c.178C>T c.(178-180)Ctg>Ttg p.L60L NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 60 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GGGCAACCTCCTGGTGATCCT 0.667000 5 13 0 0 1 0 0 GOLPH3 64083 broad.mit.edu 37 5 32143969 32143969 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:32143969C>A ENST00000265070.6 - 2 558 c.243G>T c.(241-243)tgG>tgT p.W81C GOLPH3_ENST00000512668.1_Intron NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 81 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 TACAGTCATTCCAAAATGATG 0.318000 8 68 1.06961e-07 1.13758e-07 1 1 0 APOB 338 broad.mit.edu 37 2 21229266 21229266 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:21229266T>A ENST00000233242.1 - 26 10601 c.10474A>T c.(10474-10476)Att>Ttt p.I3492F NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3492 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GATGACTCAATGGAAAAGTAA 0.418000 19 83 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101899 168101899 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:168101899G>C ENST00000409195.1 + 9 4086 c.3997G>C c.(3997-3999)Gaa>Caa p.E1333Q XIRP2_ENST00000295237.9_Missense_Mutation_p.E1333Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1111Q NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1158 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTCCTATCATGAAGTGACCAC 0.383000 10 60 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66308892 66308892 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:66308892T>C ENST00000354636.3 + 4 1114 c.303T>C c.(301-303)agT>agC p.S101S AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron|HMGA2_ENST00000541363.1_Intron NM_003484.1 NP_003475.1 P52926 HMGA2_HUMAN high mobility group AT-hook 2 101 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) TGGGAAACAGTACCAAAAGGA 0.423000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 12 257 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151771906 151771906 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:151771906G>A ENST00000535741.1 - 24 4447 c.3974C>T c.(3973-3975)tCa>tTa p.S1325L LRBA_ENST00000357115.3_Missense_Mutation_p.S1325L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1325L|LRBA_ENST00000507224.1_Missense_Mutation_p.S1325L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1325 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TGTTTCTATTGAAAATAATAG 0.343000 5 23 0 0 1 0 0 PHYHD1 254295 broad.mit.edu 37 9 131704017 131704017 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:131704017C>T ENST00000308941.5 + 12 1299 c.879C>T c.(877-879)ctC>ctT p.L293L RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000372592.3_3'UTR|PHYHD1_ENST00000421063.2_3'UTR NM_174933.3 NP_777593.2 phytanoyl-CoA dioxygenase domain containing 1 central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3) 10 CAGGAGCCCTCGCCCCTCCCG 0.592000 11 47 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50339459 50339459 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:50339459C>T ENST00000394697.2 + 13 1981 c.1641C>T c.(1639-1641)gaC>gaT p.D547D ADCY7_ENST00000538642.1_Silent_p.D547D|ADCY7_ENST00000254235.3_Silent_p.D547D|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Silent_p.D547D P51828 ADCY7_HUMAN adenylate cyclase 7 547 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.D547D(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGTACGATGACGAGATGCTGT 0.597000 18 179 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7295617 7295617 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:7295617A>T ENST00000537408.1 + 10 2267 c.1729A>T c.(1729-1731)Atg>Ttg p.M577L CLSTN3_ENST00000266546.6_Missense_Mutation_p.M565L Q9BQT9 CSTN3_HUMAN calsyntenin 3 565 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GGGCAAAGGCATGAAGGTATT 0.622000 8 47 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113460 59113460 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:59113460G>A ENST00000395153.3 + 4 2155 c.2008G>A c.(2008-2010)Gcg>Acg p.A670T DACT1_ENST00000541264.2_Missense_Mutation_p.A426T|DACT1_ENST00000556859.1_Missense_Mutation_p.A426T|DACT1_ENST00000335867.4_Missense_Mutation_p.A707T NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 707 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCTGTACCCCGCGCCTGTGCC 0.672000 8 79 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109318494 109318494 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:109318494G>C ENST00000356711.2 + 2 349 c.223G>C c.(223-225)Gaa>Caa p.E75Q MYO16_ENST00000251041.5_Missense_Mutation_p.E75Q|MYO16_ENST00000357550.2_Missense_Mutation_p.E75Q NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 75 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAATGACAAAGAAGGTACATG 0.418000 3 21 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440481 145440481 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440481T>C ENST00000369317.4 + 5 1121 c.787T>C c.(787-789)Tct>Cct p.S263P TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 263 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATCAGGCCTTCTATCCTGGG 0.493000 25 185 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645734 167645734 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:167645734A>G ENST00000519204.1 + 22 4593 c.4475A>G c.(4474-4476)tAc>tGc p.Y1492C TENM2_ENST00000545108.1_Missense_Mutation_p.Y1612C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1437C|TENM2_ENST00000518659.1_Missense_Mutation_p.Y1613C|TENM2_ENST00000520394.1_Missense_Mutation_p.Y1374C teneurin transmembrane protein 2 ACAGGGGAGTACTTGTACAAT 0.473000 12 124 0 0 1 0 0 CLEC9A 283420 broad.mit.edu 37 12 10205299 10205299 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:10205299G>C ENST00000355819.1 + 4 626 c.13G>C c.(13-15)Gaa>Caa p.E5Q CLEC9A_ENST00000544751.1_3'UTR NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 5 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 GCACGAGGAAGAAATATACAC 0.448000 11 61 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240575 126240575 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:126240575C>T ENST00000394329.3 + 1 3022 c.3009C>T c.(3007-3009)gtC>gtT p.V1003V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1003 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTATGAAGTCACCCTTTCTG 0.408000 7 93 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140076196 140076196 + Missense_Mutation SNP C C T rs142080330 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:140076196C>T ENST00000323927.2 - 7 1409 c.1405G>A c.(1405-1407)Gac>Aac p.D469N NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 469 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TCCTCACTGTCCTGGCCTGTC 0.652000 5 45 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080154 152080154 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152080154C>T ENST00000368804.1 - 2 5538 c.5539G>A c.(5539-5541)Gcg>Acg p.A1847T NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1847 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCTCCGCCCGGTACTGC 0.572000 8 103 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84562902 84562902 + RNA SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:84562902A>T ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TATGAAGCCCATATTAAATCT 0.433000 6 3 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85531742 85531742 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:85531742G>C ENST00000393217.2 + 19 4385 c.4324G>C c.(4324-4326)Gat>Cat p.D1442H NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1442 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTTTATATTTGATGAAGTAAG 0.284000 10 46 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9729386 9729386 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:9729386G>C ENST00000262441.5 + 1 519 c.6G>C c.(4-6)aaG>aaC p.K2N GLP2R_ENST00000574745.1_Intron NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 2 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GGAAGATGAAGCTGGGATCGA 0.632000 6 26 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 130011399 130011399 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:130011399G>T ENST00000263574.5 + 16 2038 c.1966G>T c.(1966-1968)Gac>Tac p.D656Y APLP2_ENST00000338167.5_Missense_Mutation_p.D644Y|APLP2_ENST00000539648.1_Missense_Mutation_p.D444Y|APLP2_ENST00000345598.5_Missense_Mutation_p.D415Y|APLP2_ENST00000278756.7_Missense_Mutation_p.D654Y|APLP2_ENST00000528499.1_Missense_Mutation_p.D588Y|APLP2_ENST00000543137.1_Missense_Mutation_p.D551Y NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 656 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TCAGGTCATTGACGAGACTCT 0.498000 17 43 1.02788e-11 1.11941e-11 1 1 0 TSPAN14 81619 broad.mit.edu 37 10 82269071 82269071 + Silent SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:82269071C>A ENST00000429989.3 + 5 517 c.294C>A c.(292-294)atC>atA p.I98I TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.I98I|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372164.3_Silent_p.I81I|TSPAN14_ENST00000372158.1_Silent_p.I98I NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) GTGGCACCATCGTGCTCATCT 0.617000 7 42 0.00198382 0.00202847 1 1 0 REG1A 5967 broad.mit.edu 37 2 79348757 79348757 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:79348757C>T ENST00000233735.1 + 3 237 c.134C>T c.(133-135)tCc>tTc p.S45F NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 45 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCCTATCGCTCCTACTGCTAC 0.542000 10 480 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066950 46066950 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:46066950T>C ENST00000334670.8 + 1 620 c.575T>C c.(574-576)gTc>gCc p.V192A TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 186 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 TGCGTGCCTGTCTGCTGCAAG 0.607000 31 399 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659423 77659423 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:77659423C>T ENST00000316249.3 + 2 1008 c.1008C>T c.(1006-1008)ttC>ttT p.F336F KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 336 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TGGCGCTCTTCGCGCCACTGG 0.716000 5 11 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084447 152084447 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152084447C>T ENST00000368804.1 - 2 1245 c.1246G>A c.(1246-1248)Gag>Aag p.E416K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 416 8 X 6 AA tandem repeats of R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) Agctgctgctcgcgcctcagc 0.711000 5 30 0 0 1 0 0 RPS18 6222 broad.mit.edu 37 6 33243657 33243657 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:33243657T>C ENST00000439602.2 + 3 296 c.186T>C c.(184-186)gaT>gaC p.D62D RPS18_ENST00000474973.1_5'UTR|RPS18_ENST00000476222.1_3'UTR P62269 RS18_HUMAN ribosomal protein S18 62 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 TCACTGAGGATGAGGTGAGGA 0.567000 6 136 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68334769 68334769 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:68334769G>T ENST00000297770.4 - 11 1499 c.1284C>A c.(1282-1284)atC>atA p.I428I CPA6_ENST00000297769.4_Silent_p.I184I NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 428 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GGTGCATTGTGATATTTTTCA 0.453000 12 173 4.3838e-07 4.64683e-07 1 1 0 CDYL 9425 broad.mit.edu 37 6 4892403 4892403 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:4892403G>A ENST00000328908.5 + 4 774 c.643G>A c.(643-645)Gag>Aag p.E215K CDYL_ENST00000343762.5_Missense_Mutation_p.E29K|CDYL_ENST00000449732.2_Missense_Mutation_p.E29K|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.E161K Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 215 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CTTTCAGAGCGAGAGCCCTGA 0.602000 5 70 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:82784471A>G ENST00000333891.9 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000423517.2_Missense_Mutation_p.S496P NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) 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 GGCTTTGCTGAGCCAGGCTGT 0.607000 11 238 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41278172 41278172 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:41278172T>A ENST00000349496.5 + 13 2328 c.2048T>A c.(2047-2049)tTc>tAc p.F683Y CTNNB1_ENST00000453024.1_Missense_Mutation_p.F676Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.F683Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.F683Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.F683Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 683 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AGCTCTCTCTTCAGAACAGAG 0.458000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 11 158 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55755405 55755405 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:55755405T>C ENST00000373955.1 - 21 3163 c.2872A>G c.(2872-2874)Agt>Ggt p.S958G PCDH15_ENST00000320301.6_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395430.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373957.3_Intron Q96QU1 PCD15_HUMAN protocadherin-related 15 749 Cadherin 9. 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) TGCCTTCTACTTACAGGAGGG 0.388000 HNSCC(58;0.16) 5 47 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36640550 36640550 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:36640550C>T ENST00000373151.2 + 6 1007 c.791C>T c.(790-792)tCt>tTt p.S264F MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000373150.4_Missense_Mutation_p.S264F|MAP7D1_ENST00000474796.1_3'UTR NM_018067.3 NP_060537.3 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 264 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CACGTGGACTCTATAATCAAC 0.607000 4 36 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8724142 8724142 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:8724142G>C ENST00000534127.1 - 17 3082 c.2697C>G c.(2695-2697)gtC>gtG p.V899V ST5_ENST00000313726.6_Silent_p.V899V|ST5_ENST00000526757.1_Silent_p.V479V|ST5_ENST00000357665.1_Silent_p.V899V|ST5_ENST00000530991.1_Silent_p.V371V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.V479V|ST5_ENST00000526099.1_Silent_p.V412V|ST5_ENST00000534278.1_Silent_p.V90V NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 899 DENN. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCACAAAAATGACCCGGCGCT 0.572000 6 89 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90262280 90262280 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:90262280C>G ENST00000469640.2 + 14 1666 c.1291C>G c.(1291-1293)Ctc>Gtc p.L431V DAPK1_ENST00000358077.5_Missense_Mutation_p.L431V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L431V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L431V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L431V P53355 DAPK1_HUMAN death-associated protein kinase 1 431 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CTTGAAATTTCTCAGTGAGAA 0.502000 Chronic Lymphocytic Leukemia, Familial Clustering of 13 69 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43868912 43868912 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:43868912G>A ENST00000562955.1 + 2 92 c.92G>A c.(91-93)cGc>cAc p.R31H SZT2_ENST00000372450.4_Missense_Mutation_p.R31H|SZT2_ENST00000310739.4_Missense_Mutation_p.R31H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 31 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CGAAATGTTCGCCTGGCTTGG 0.493000 6 63 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3270794 3270794 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:3270794G>C ENST00000252032.9 - 26 2375 c.2308C>G c.(2308-2310)Ctg>Gtg p.L770V C20orf194_ENST00000453730.2_Intron NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 770 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCCTTATGCAGAGTGACCAGA 0.478000 42 310 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73774687 73774687 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:73774687C>G ENST00000254810.4 - 4 532 c.400G>C c.(400-402)Gag>Cag p.E134Q H3F3B_ENST00000592643.1_Missense_Mutation_p.E109D|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000589599.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000587560.1_Missense_Mutation_p.E134Q|H3F3B_ENST00000591890.1_3'UTR NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 134 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TAAGCTCTCTCTCCCCGTATC 0.418000 32 132 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186312 37186312 + RNA SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:37186312C>G ENST00000425901.2 + 0 154 NR_033753.2 GTAGAACCTTCTGCCACCCAG 0.532000 12 52 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10475384 10475384 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:10475384G>A ENST00000525621.1 - 9 1754 c.1273C>T c.(1273-1275)Cgc>Tgc p.R425C TYK2_ENST00000529370.1_Missense_Mutation_p.R425C|TYK2_ENST00000264818.6_Missense_Mutation_p.R425C|TYK2_ENST00000524462.1_Missense_Mutation_p.R240C NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 425 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCCGTCAGGCGGAAATAGCCG 0.672000 22 79 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628543 51628543 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:51628543G>A ENST00000440804.3 + 1 379 c.312G>A c.(310-312)ctG>ctA p.L104L SIGLEC9_ENST00000250360.3_Silent_p.L104L NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 104 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ATTGCACCCTGAGCATCAGAG 0.507000 19 115 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58198725 58198725 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:58198725G>A ENST00000282296.5 + 3 1267 c.1082G>A c.(1081-1083)aGg>aAg p.R361K AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R345K|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron Q7Z340 ZN551_HUMAN zinc finger protein 551 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(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;0.0257) ACTGGAGAAAGGCCTTATGAA 0.468000 11 141 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414768 46414768 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:46414768T>C ENST00000343801.4 + 3 732 c.375T>C c.(373-375)gaT>gaC p.D125D CCR5_ENST00000292303.4_Silent_p.D125D|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.D125D NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 125 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity p.D125E(1) central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TGACAATCGATAGGTACCTGG 0.478000 10 209 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145512562 145512562 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:145512562G>T ENST00000394434.2 - 23 2461 c.2295C>A c.(2293-2295)ctC>ctA p.L765L LARS_ENST00000545646.1_Silent_p.L719L|LARS_ENST00000274562.9_Silent_p.L738L|LARS_ENST00000510191.1_Silent_p.L711L NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 765 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TGTACAGACGGAGAATACCTG 0.478000 7 56 2.0095e-06 2.11596e-06 1 1 0 SGOL2 151246 broad.mit.edu 37 2 201436243 201436243 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:201436243G>A ENST00000357799.4 + 7 1272 c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 392 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.E392Q(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAACAAATGAACATGGAAT 0.318000 6 56 0 0 1 0 0 PFN1 5216 broad.mit.edu 37 17 4849269 4849269 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:4849269C>G ENST00000225655.5 - 3 968 c.349G>C c.(349-351)Gaa>Caa p.E117Q PFN1_ENST00000574872.1_Missense_Mutation_p.E81Q NM_005022.3 NP_005013.1 P07737 PROF1_HUMAN profilin 1 117 actin cytoskeleton organization|platelet activation|platelet degranulation actin cytoskeleton|cytoplasm actin binding|proline-rich region binding p.E117Q(1) NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 TGGACACCTTCTTTGCCCATC 0.552000 15 65 0 0 1 0 0 LY6G5B 58496 broad.mit.edu 37 6 31639913 31639913 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:31639913G>C ENST00000375864.4 + 3 1244 c.460G>C c.(460-462)Gag>Cag p.E154Q CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Missense_Mutation_p.E99Q NM_021221.2 NP_067044.2 Q8NDX9 LY65B_HUMAN lymphocyte antigen 6 complex, locus G5B 154 extracellular region lung(4) 4 TGCTGGGACGGAGCCTGATGG 0.587000 10 74 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57588794 57588794 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:57588794G>C ENST00000243077.3 + 51 8684 c.8218G>C c.(8218-8220)Gag>Cag p.E2740Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2740 LDL-receptor class A 16. 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) GGCCCAGTTTGAGTGCCAGAA 0.597000 13 154 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738765 138738765 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:138738765G>A ENST00000329447.5 - 1 1003 c.739C>T c.(739-741)Cgc>Tgc p.R247C MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 247 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCGGCGAGCGCGCGTGGGGA 0.657000 12 84 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76120607 76120607 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:76120607C>T ENST00000590602.1 - 8 1048 c.889G>A c.(889-891)Gcg>Acg p.A297T TMC6_ENST00000322914.3_Missense_Mutation_p.A297T|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000392467.3_Missense_Mutation_p.A297T|TMC6_ENST00000589553.1_Missense_Mutation_p.A70T|TMC6_ENST00000306591.7_Missense_Mutation_p.A297T Q7Z403 TMC6_HUMAN transmembrane channel-like 6 297 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TTCCTCACCGCGCCTGTGAGG 0.697000 6 38 0 0 1 0 0 ALAD 210 broad.mit.edu 37 9 116152053 116152053 + Splice_Site SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:116152053C>T ENST00000409155.3 - 8 822 c.626G>A c.(625-627)cGg>cAg p.R209Q ALAD_ENST00000277315.5_Splice_Site_p.R192Q NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 209 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding p.R238Q(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) CCCTGCTCACCGGAAAGGGCC 0.562000 6 41 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861415 52861415 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:52861415C>T ENST00000343457.3 - 4 1779 c.1773G>A c.(1771-1773)atG>atA p.M591I NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 591 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CATGTGTTAGCATTTTACAGA 0.483000 13 172 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633772 116633772 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:116633772C>T ENST00000260210.4 - 4 556 c.533G>A c.(532-534)aGg>aAg p.R178K BUD13_ENST00000375445.3_Missense_Mutation_p.R178K NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 178 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) ACGGATCCTCCTGGGAGGAGA 0.582000 34 213 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98804557 98804557 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:98804557G>C ENST00000477737.1 + 10 1635 c.1431G>C c.(1429-1431)gaG>gaC p.E477D VWA3B_ENST00000435344.1_Missense_Mutation_p.E477D|VWA3B_ENST00000451075.2_Missense_Mutation_p.E327D NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 477 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGTACAGTGAGAGAATCCACA 0.502000 20 95 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372105 34372105 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:34372105C>T ENST00000297625.7 - 2 960 c.735G>A c.(733-735)ctG>ctA p.L245L NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 279 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds p.L245L(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTCGGTAGCTCAGCTCTGGCG 0.667000 4 57 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235972124 235972124 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:235972124G>A ENST00000389794.3 - 5 2168 c.1994C>T c.(1993-1995)tCa>tTa p.S665L LYST_ENST00000536965.1_Missense_Mutation_p.S665L|LYST_ENST00000389793.2_Missense_Mutation_p.S665L Q99698 LYST_HUMAN lysosomal trafficking regulator 665 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGATAAACTTGAGGAGAGTTC 0.408000 5 70 0 0 1 0 0 NTS 4922 broad.mit.edu 37 12 86272159 86272159 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:86272159C>G ENST00000256010.6 + 3 279 c.172C>G c.(172-174)Ctg>Gtg p.L58V NTS_ENST00000551529.1_Intron NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 58 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 GAAGATGACTCTGCTAAATGT 0.373000 11 133 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584986 30584986 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:30584986C>T ENST00000562532.2 + 3 1640 c.1466C>T c.(1465-1467)gCg>gTg p.A489V NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane p.A489E(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGGGCCTCGGCGGGAGAGCGT 0.701000 4 86 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6928501 6928501 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:6928501C>T ENST00000293805.5 + 5 963 c.871C>T c.(871-873)Cgg>Tgg p.R291W NM_181844.3 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 291 nucleus zinc ion binding skin(1) 1 ACCCTCTGAACGGGCTCGTCC 0.557000 10 158 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079984 57079984 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:57079984C>T ENST00000316981.3 - 5 800 c.321G>A c.(319-321)ctG>ctA p.L107L PLAG1_ENST00000429357.2_Silent_p.L107L|PLAG1_ENST00000423799.2_Silent_p.L25L NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 107 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GGTGATTCTTCAGATGATCTT 0.393000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 4 28 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8591788 8591788 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:8591788C>G ENST00000338257.8 - 23 2773 c.2506G>C c.(2506-2508)Gag>Cag p.E836Q NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 836 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GCGGCATCCTCTTGGAGGATG 0.627000 5 63 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13712435 13712435 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:13712435C>T ENST00000357447.2 - 17 1713 c.1345G>A c.(1345-1347)Gat>Aat p.D449N FRMD4A_ENST00000378503.1_Missense_Mutation_p.D449N|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D434N NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 449 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TTCTGTTCATCCAGTTTGAAG 0.498000 15 95 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235826288 235826288 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:235826288C>T ENST00000389794.3 - 53 11532 c.11358G>A c.(11356-11358)ttG>ttA p.L3786L LYST_ENST00000389793.2_Silent_p.L3786L|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3786 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGGCTGTTTCAAGCGCTGCT 0.458000 9 118 0 0 1 0 0 TSPAN1 10103 broad.mit.edu 37 1 46650908 46650908 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:46650908T>C ENST00000372003.1 + 8 1070 c.606T>C c.(604-606)aaT>aaC p.N202N TSPAN1_ENST00000498443.1_3'UTR NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 202 integral to membrane|lysosomal membrane kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GTTGCTTCAATCAGCTTTTGT 0.537000 19 300 0 0 1 0 0 OSCAR 126014 broad.mit.edu 37 19 54598563 54598563 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:54598563C>G ENST00000358375.4 - 5 760 c.715G>C c.(715-717)Gtc>Ctc p.V239L OSCAR_ENST00000356532.3_Missense_Mutation_p.V243L|OSCAR_ENST00000351806.4_Missense_Mutation_p.V228L|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000391761.1_3'UTR NM_133169.3 NP_573399.2 Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 0 extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GAGATGAGGACCAGCCCGGCC 0.697000 3 14 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18120728 18120728 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:18120728C>T ENST00000379656.3 + 5 897 c.714C>T c.(712-714)ctC>ctT p.L238L ARRDC2_ENST00000222250.4_Silent_p.L243L NM_001025604.1 NP_001020775.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 TGGCCAGCCTCGCGGGCGAGC 0.716000 8 96 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538457 4538457 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:4538457G>T ENST00000306390.6 - 2 999 c.539C>A c.(538-540)cCc>cAc p.P180H CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 180 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCCGGGGGGCAGTTTCCG 0.622000 25 265 1.96895e-08 2.10817e-08 1 1 0 OR4L1 122742 broad.mit.edu 37 14 20528361 20528361 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:20528361C>T ENST00000315683.1 + 1 158 c.158C>T c.(157-159)tCa>tTa p.S53L NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 53 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) ACATGTAGGTCAACCCTTCAT 0.423000 4 125 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221161 67221161 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67221161G>T ENST00000314586.6 - 5 1247 c.1007C>A c.(1006-1008)gCc>gAc p.A336D EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 336 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GTGCAGCAAGGCGAAGGCATC 0.627000 10 67 2.17888e-05 2.27175e-05 1 1 0 TOR1AIP1 26092 broad.mit.edu 37 1 179852011 179852011 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:179852011G>A ENST00000606911.2 + 1 565 c.374G>A c.(373-375)cGa>cAa p.R125Q TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R125Q|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R125Q|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R4Q Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 ATGAAGACGCGAAGGACTACC 0.587000 9 90 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31133898 31133898 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:31133898C>T ENST00000452305.1 - 9 3012 c.2449G>A c.(2449-2451)Gag>Aag p.E817K ZNF438_ENST00000442986.1_Missense_Mutation_p.E827K|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778K|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817K|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391K|ZNF438_ENST00000361310.3_Missense_Mutation_p.E827K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827K NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E827K(1)|p.E827Q(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCTCATTTCTCAGCTTCACTG 0.512000 29 298 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71016176 71016176 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:71016176A>G ENST00000334414.6 - 3 746 c.702T>C c.(700-702)acT>acC p.T234T PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.T233T|PTPRB_ENST00000550358.1_Silent_p.T234T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 3. 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) TTACCTCTTCAGTGGTGCTGG 0.507000 8 218 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100796630 100796630 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:100796630G>A ENST00000358544.2 + 43 8053 c.7942G>A c.(7942-7944)Gat>Aat p.D2648N VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D2623N NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2648 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGCCAGGTGGATACTGATGA 0.468000 22 179 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28547168 28547168 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:28547168A>T ENST00000452236.2 - 2 1066 c.449T>A c.(448-450)gTt>gAt p.V150D SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 150 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTCCATAGAAACTTCCTGCCC 0.413000 12 93 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30021406 30021406 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:30021406G>A ENST00000350119.4 - 2 328 c.138C>T c.(136-138)ggC>ggT p.G46G DOC2A_ENST00000564944.1_Silent_p.G46G|DOC2A_ENST00000564979.1_Silent_p.G46G NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2 NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 46 Interaction with UNC13D and DYNLT1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 cgccgcccccgccgcccccTT 0.731000 8 60 0 0 1 0 0 FAM127B 26071 broad.mit.edu 37 X 134186001 134186001 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:134186001C>A ENST00000370775.2 - 1 204 c.138G>T c.(136-138)caG>caT p.Q46H FAM127B_ENST00000520964.1_5'UTR NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 46 breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) AGGAGCTCGTCTGCACGATGA 0.652000 32 59 2.81731e-10 3.03697e-10 1 1 0 KLHDC8B 200942 broad.mit.edu 37 3 49211748 49211748 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:49211748T>C ENST00000332780.2 + 3 662 c.453T>C c.(451-453)cgT>cgC p.R151R KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 151 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGAGCCCCGTCGGGACTGCT 0.597000 10 117 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58639742 58639742 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:58639742C>T ENST00000598312.1 - 4 1362 c.1129G>A c.(1129-1131)Ggg>Agg p.G377R ZNF329_ENST00000358067.4_Missense_Mutation_p.G377R NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 377 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) AAGGATTTCCCGCACTCTGCA 0.478000 12 137 0 0 1 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27665507 27665507 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:27665507C>T ENST00000543753.1 + 2 137 c.90C>T c.(88-90)caC>caT p.H30H KRTCAP3_ENST00000288873.3_Silent_p.H30H|KRTCAP3_ENST00000407293.1_Silent_p.H12H NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 30 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) TGGTGGGCCACGTGAACCTGC 0.711000 6 27 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56113573 56113573 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:56113573G>A ENST00000591046.1 + 1 329 c.95G>A c.(94-96)cGa>cAa p.R32Q ZNF524_ENST00000301073.3_Missense_Mutation_p.R32Q Q96C55 ZN524_HUMAN zinc finger protein 524 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGGGCCGCCGAGGCCGTCGT 0.682000 8 45 0 0 1 0 0 C3orf35 339883 broad.mit.edu 37 3 37476522 37476522 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:37476522C>T ENST00000328376.5 + 6 1393 c.414C>T c.(412-414)gcC>gcT p.A138A C3orf35_ENST00000481400.1_3'UTR NM_178339.2 NP_848029.2 Q8IVJ8 APRG1_HUMAN chromosome 3 open reading frame 35 138 integral to membrane NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 11 GTGGGGATGCCTGGAAAACAA 0.537000 4 49 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560146 32560146 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:32560146C>T ENST00000345122.3 + 2 586 c.271C>T c.(271-273)Cat>Tat p.H91Y ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H91Y|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 91 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATGCAAAATTCATGTCATTGA 0.373000 7 89 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213339 67213339 + Nonsense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67213339C>A ENST00000290881.7 - 5 1767 c.841G>T c.(841-843)Gag>Tag p.E281* KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.E281*|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.E281* Q68EN5 K895L_HUMAN KIAA0895-like 281 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 TGACCTATCTCATGCCGCAGC 0.622000 13 121 3.52763e-06 3.70227e-06 1 1 0 GEMIN4 50628 broad.mit.edu 37 17 649462 649462 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:649462G>C ENST00000576778.1 - 1 3129 c.1788C>G c.(1786-1788)ctC>ctG p.L596L GEMIN4_ENST00000319004.5_Silent_p.L607L P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 607 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CGGTTTCTTTGAGGCATGACA 0.502000 18 150 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15890478 15890478 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15890478G>A ENST00000375847.3 + 10 1557 c.1393G>A c.(1393-1395)Gaa>Aaa p.E465K DNAJC16_ENST00000375838.1_Missense_Mutation_p.E465K|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E465K NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 465 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TAAAACCCTGGAAGACCCTTG 0.453000 24 206 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153244185 153244185 + Nonsense_Mutation SNP G G A rs144247898 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:153244185G>A ENST00000281708.4 - 12 3201 c.1972C>T c.(1972-1974)Cga>Tga p.R658* FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 658 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTAGGTTTCGAATAAATTCA 0.473000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 8 121 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415603 213415603 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:213415603C>T ENST00000366960.3 + 11 2934 c.2784C>T c.(2782-2784)cgC>cgT p.R928R RPS6KC1_ENST00000543470.1_Silent_p.R716R|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Silent_p.R631R|RPS6KC1_ENST00000366959.3_Silent_p.R916R NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 928 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TTGTGTGCCGCGATTTGAACC 0.433000 9 102 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313431 1313431 + Silent SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:1313431C>A ENST00000296839.2 + 1 757 c.492C>A c.(490-492)cgC>cgA p.R164R NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 164 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) CGGGCTGGCGCAACTCCGTGC 0.647000 9 92 0.000442599 0.000455491 1 1 0 MAML2 84441 broad.mit.edu 37 11 95724768 95724768 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:95724768C>G ENST00000524717.1 - 3 3543 c.2259G>C c.(2257-2259)ttG>ttC p.L753F NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 753 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TCTTTCCCATCAATTGCTGAT 0.488000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 19 109 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685907 125685907 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:125685907C>T ENST00000371126.1 - 1 927 c.685G>A c.(685-687)Gac>Aac p.D229N NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 229 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCAACAGTGTCATCGAACTTG 0.637000 19 42 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35088699 35088699 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:35088699G>C ENST00000311875.5 - 6 1158 c.741C>G c.(739-741)ctC>ctG p.L247L TCP11_ENST00000412155.2_Silent_p.L196L|TCP11_ENST00000444780.2_Silent_p.L242L|TCP11_ENST00000512012.1_Silent_p.L234L|TCP11_ENST00000244645.3_Silent_p.L172L|TCP11_ENST00000373979.2_Silent_p.L172L|TCP11_ENST00000373974.4_Silent_p.L201L|TCP11_ENST00000418521.2_Silent_p.L171L Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 234 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 GCTGCTTATTGAGGAGTTCCT 0.423000 69 392 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10442706 10442706 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:10442706C>T ENST00000397077.1 - 7 1287 c.712G>A c.(712-714)Gaa>Aaa p.E238K ATP2B2_ENST00000383800.4_Missense_Mutation_p.E238K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E238K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E238K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E238K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 238 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 AGGGAGCTTTCATCAATCTTG 0.592000 17 84 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246625 65246625 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:65246625G>C ENST00000389722.3 - 20 4344 c.4291C>G c.(4291-4293)Cga>Gga p.R1431G SPTB_ENST00000542895.1_Missense_Mutation_p.R1431G|SPTB_ENST00000389721.5_Missense_Mutation_p.R1431G|SPTB_ENST00000556626.1_Missense_Mutation_p.R1431G|SPTB_ENST00000389720.3_Missense_Mutation_p.R1431G NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1431 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCTCTTTTCGCACATTCACT 0.572000 10 125 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641372 161641372 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:161641372C>T ENST00000367962.4 + 3 451 c.324C>T c.(322-324)agC>agT p.S108S FCGR2B_ENST00000403078.3_Silent_p.S108S|FCGR2B_ENST00000367960.5_Silent_p.S101S|FCGR2B_ENST00000367961.4_Silent_p.S101S|FCGR2B_ENST00000358671.5_Silent_p.S108S|FCGR2B_ENST00000236937.9_Silent_p.S108S|FCGR2B_ENST00000428605.2_Silent_p.S108S P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 108 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACAATGACAGCGGGGAGTACA 0.592000 T ? ALL 10 155 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45845616 45845616 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:45845616C>A ENST00000397928.1 + 25 4146 c.3701C>A c.(3700-3702)cCg>cAg p.P1234Q TRPM2_ENST00000300482.5_Missense_Mutation_p.P1234Q|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.P1214Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.P1284Q NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1234 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACGGAGGAGCCGGGCGACAGC 0.677000 3 19 1 1 1 1 0 CALCR 799 broad.mit.edu 37 7 93067391 93067391 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:93067391G>T ENST00000359558.2 - 13 1312 c.1013C>A c.(1012-1014)cCt>cAt p.P338H CALCR_ENST00000394441.1_Missense_Mutation_p.P304H|CALCR_ENST00000426151.1_Missense_Mutation_p.P304H|CALCR_ENST00000421592.1_Missense_Mutation_p.P320H|CALCR_ENST00000360249.4_Missense_Mutation_p.P320H NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 320 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CGCCATGACAGGTCCATGGAT 0.348000 6 46 0.217242 0.217928 1 1 0 MSLN 10232 broad.mit.edu 37 16 816647 816647 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:816647C>G ENST00000382862.3 + 13 1329 c.1234C>G c.(1234-1236)Cct>Gct p.P412A MSLN_ENST00000545450.2_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000563941.1_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin 412 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCACAAGGCTCCTCGGCGGCC 0.632000 16 104 0 0 1 0 0 C7orf50 84310 broad.mit.edu 37 7 1037332 1037332 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:1037332C>T ENST00000397098.3 - 5 1440 c.514G>A c.(514-516)Gag>Aag p.E172K C7orf50_ENST00000357429.6_Missense_Mutation_p.E172K|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.E172K Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 172 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) GAGCCCTCCTCATCCAGCTCC 0.711000 8 80 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411502 126411502 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:126411502G>A ENST00000394329.3 + 17 13538 c.13525G>A c.(13525-13527)Gtg>Atg p.V4509M FAT4_ENST00000335110.5_Missense_Mutation_p.V2750M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4509 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCCTGCCATCGTGGGCAGCTG 0.577000 10 111 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231581 29231581 + RNA SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:29231581A>G ENST00000441381.1 + 0 79 CACAGCCACCAAAAGTGATTT 0.413000 33 263 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37145475 37145475 + Nonsense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:37145475C>T ENST00000361487.6 + 4 1069 c.844C>T c.(844-846)Caa>Taa p.Q282* PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000554201.1_Silent_p.P91P|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q282* P55771 PAX9_HUMAN paired box 9 282 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) TACCCCAGCCCAAGTGTCGCC 0.532000 13 111 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1572053 1572053 + Silent SNP C C T rs17424311 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:1572053C>T ENST00000407249.3 - 18 1916 c.1917G>A c.(1915-1917)aaG>aaA p.K639K CDK11B_ENST00000317673.7_Silent_p.K637K|CDK11B_ENST00000341832.6_Silent_p.K592K|CDK11B_ENST00000340677.5_Silent_p.K626K P21127 CD11B_HUMAN cyclin-dependent kinase 11B 649 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 CCTTGAACACCTTGTTGATCT 0.607000 7 64 0 0 1 0 0 CTRB2 440387 broad.mit.edu 37 16 75238191 75238191 + Missense_Mutation SNP C C G rs1130512 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:75238191C>G ENST00000303037.8 - 7 703 c.660G>C c.(658-660)caG>caC p.Q220H NM_001025200.3 NP_001020371.3 Q6GPI1 CTRB2_HUMAN chymotrypsinogen B2 220 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity endometrium(1)|large_intestine(1)|lung(2) 4 CTCCGTCCTTCTGGCAGACCA 0.652000 4 84 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281007 100281007 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:100281007G>C ENST00000275732.5 - 18 3322 c.2113C>G c.(2113-2115)Cga>Gga p.R705G NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 705 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCTCCTCTCGACGCTTGCGT 0.647000 27 245 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238516 3238516 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:3238516G>C ENST00000217939.6 - 5 5364 c.5210C>G c.(5209-5211)aCt>aGt p.T1737S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1737 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAAAGAAAGAGTCTTGTTGGT 0.463000 24 28 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409753 159409753 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:159409753C>A ENST00000423932.3 + 1 242 c.205C>A c.(205-207)Ccc>Acc p.P69T RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 69 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCTTCACACACCCATGTACTT 0.458000 9 160 1.12685e-05 1.17875e-05 1 1 0 FRMD3 257019 broad.mit.edu 37 9 85913693 85913693 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:85913693T>A ENST00000304195.3 - 12 1246 c.1040A>T c.(1039-1041)aAg>aTg p.K347M FRMD3_ENST00000376438.1_Missense_Mutation_p.K347M|FRMD3_ENST00000376434.1_Missense_Mutation_p.K153M NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 347 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 CCTCTGGATCTTGGAACTGGC 0.498000 7 61 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44417657 44417657 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:44417657C>G ENST00000243938.4 - 3 207 c.124G>C c.(124-126)Gag>Cag p.E42Q WFDC3_ENST00000372632.2_Missense_Mutation_p.E42Q|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 42 WAP 1. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) TGGCACAGCTCTTTGCATGGG 0.512000 16 249 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111348892 111348892 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:111348892C>G ENST00000228841.8 - 7 537 c.490G>C c.(490-492)Gag>Cag p.E164Q MYL2_ENST00000548438.1_Missense_Mutation_p.E150Q NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 164 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 TAGTCCTTCTCTTCTCCGTGG 0.607000 15 122 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31521263 31521263 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:31521263C>G ENST00000511367.2 - 5 1158 c.914G>C c.(913-915)aGg>aCg p.R305T DROSHA_ENST00000513349.1_Missense_Mutation_p.R305T|DROSHA_ENST00000442743.1_Missense_Mutation_p.R305T|DROSHA_ENST00000344624.3_Missense_Mutation_p.R305T NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 305 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 TTTGTAGGACCTTTCCAGAGA 0.408000 12 154 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53341818 53341818 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:53341818G>A ENST00000398510.3 + 32 7093 c.7006G>A c.(7006-7008)Gtg>Atg p.V2336M CHD9_ENST00000564845.1_Splice_Site|CHD9_ENST00000447540.1_Splice_Site|CHD9_ENST00000566029.1_Splice_Site Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2336 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GATGTCAAAGGTGAAGAAGCA 0.473000 4 38 0 0 1 0 0 BLOC1S5-TXNDC5 100526836 broad.mit.edu 37 6 8041460 8041460 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:8041460C>T ENST00000439343.2 - 3 224 c.225G>A c.(223-225)ttG>ttA p.L75L EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Silent_p.L15L|BLOC1S5_ENST00000397457.2_Silent_p.L79L TCATGTTCTTCAAATTTTCAA 0.363000 10 58 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36766675 36766675 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:36766675G>A ENST00000354618.5 + 10 2716 c.2492G>A c.(2491-2493)cGa>cAa p.R831Q THRAP3_ENST00000469141.2_Missense_Mutation_p.R831Q NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 831 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCAGAGCTCGAGGAACCTTT 0.502000 T USP6 aneurysmal bone cysts 4 41 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264405 1264405 + Missense_Mutation SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:1264405A>C ENST00000447027.1 + 31 6362 c.6304A>C c.(6304-6306)Acc>Ccc p.T2102P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2099 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. A -> P (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGGGGACCACCCACACCGC 0.632000 7 20 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 4 47 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406754 38406754 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:38406754C>G ENST00000361085.5 + 7 1020 c.675C>G c.(673-675)agC>agG p.S225R ZNF37A_ENST00000351773.3_Missense_Mutation_p.S225R NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ACCCATTCAGCCAGAAGTTAA 0.348000 6 55 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29268244 29268244 + Missense_Mutation SNP G G A rs150801790 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:29268244G>A ENST00000379558.4 + 19 3041 c.2690G>A c.(2689-2691)cGt>cAt p.R897H FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R842H NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 897 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGAGTGGCCGTGCGGTGCTG 0.612000 19 102 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132874511 132874511 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:132874511C>A ENST00000275200.1 + 1 680 c.680C>A c.(679-681)gCt>gAt p.A227D NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 227 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) AAACAACAAGCTATAAAAATT 0.358000 11 77 3.86212e-05 4.0005e-05 1 1 0 NAE1 8883 broad.mit.edu 37 16 66860670 66860670 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:66860670G>A ENST00000379463.2 - 3 241 c.49C>T c.(49-51)Cat>Tat p.H17Y NAE1_ENST00000564040.2_5'UTR|NAE1_ENST00000394074.2_Intron|NAE1_ENST00000359087.4_Missense_Mutation_p.H23Y|NAE1_ENST00000290810.3_Missense_Mutation_p.H23Y NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 23 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TCTTGCCCATGATCACCCCAC 0.358000 10 84 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457832 45457832 + RNA SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:45457832A>C ENST00000548424.1 + 0 448 GGCTTTGTTTAGGCGAAAGGT 0.463000 8 119 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861829 52861829 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:52861829C>T ENST00000343457.3 - 4 1365 c.1359G>A c.(1357-1359)gaG>gaA p.E453E NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 453 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGGTCTGGTTCTCGTAGAGGC 0.542000 11 115 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12447544 12447544 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:12447544G>C ENST00000397026.2 + 7 1100 c.717G>C c.(715-717)gcG>gcC p.A239A PPARG_ENST00000397010.2_Silent_p.A233A|PPARG_ENST00000397000.1_Silent_p.A233A|PPARG_ENST00000287820.6_Silent_p.A261A|PPARG_ENST00000397015.2_Silent_p.A233A|PPARG_ENST00000539812.1_Silent_p.A231A|PPARG_ENST00000397012.2_Silent_p.A233A|PPARG_ENST00000309576.6_Silent_p.A233A P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 261 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AAGCAAAGGCGAGGGCGATCT 0.478000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 9 53 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720031 50720031 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr22:50720031C>G ENST00000449103.1 - 21 3626 c.3486G>C c.(3484-3486)caG>caC p.Q1162H PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1162H O15031 PLXB2_HUMAN plexin B2 1162 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTCTCGTTTCTGCCGCCGCT 0.697000 16 77 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73824054 73824054 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:73824054C>T ENST00000207549.4 - 32 3644 c.3265G>A c.(3265-3267)Gca>Aca p.A1089T UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1089 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTACGGTGCCGGCCGCAAG 0.697000 Familial Hemophagocytic Lymphohistiocytosis 3 24 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100903525 100903525 + Splice_Site SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:100903525C>T ENST00000393437.3 - 11 2560 c.1921G>A c.(1921-1923)Gtg>Atg p.V641M LONRF2_ENST00000409647.1_Splice_Site_p.V398M NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 641 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGACCCTCCACCTGATCAGGG 0.507000 5 41 0 0 1 0 0 PPCS 79717 broad.mit.edu 37 1 42922346 42922346 + Missense_Mutation SNP T T G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:42922346T>G ENST00000372561.3 + 1 117 c.110T>G c.(109-111)gTg>gGg p.V37G PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.V37G|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372556.3_Intron NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 37 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCGGCGGGTGGTGTTGGTT 0.711000 10 35 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058166 11058166 + RNA SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:11058166T>A ENST00000470054.1 - 0 481 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) CTTACATCTTTCAGGAGCTTG 0.383000 7 65 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75116424 75116424 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:75116424G>C ENST00000290573.2 + 17 3028 c.2428G>C c.(2428-2430)Gag>Cag p.E810Q HK2_ENST00000409174.1_Missense_Mutation_p.E782Q NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 810 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CTTAGGGCTTGAGAGCACCTG 0.617000 8 44 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10089628 10089628 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:10089628C>A ENST00000287647.3 + 16 1399 c.1306C>A c.(1306-1308)Ctg>Atg p.L436M FANCD2_ENST00000383806.1_Missense_Mutation_p.L436M|FANCD2_ENST00000383807.1_Missense_Mutation_p.L436M|FANCD2_ENST00000419585.1_Missense_Mutation_p.L436M NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 436 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATCCATTCTGTCGCTGGC 0.393000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 26 255 5.45024e-15 5.97647e-15 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65365145 65365145 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:65365145C>T ENST00000330909.8 - 18 2869 c.2870G>A c.(2869-2871)cGc>cAc p.R957H MAGI1_ENST00000497477.2_Missense_Mutation_p.R929H|MAGI1_ENST00000402939.2_Missense_Mutation_p.R929H|MAGI1_ENST00000483466.1_Missense_Mutation_p.R957H NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 957 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTGCGGAGTGCGCTTCTCTTC 0.667000 16 121 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420214 153420214 + Splice_Site SNP G G A rs139583770 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:153420214G>A ENST00000369951.4 + 4 804 c.744G>A c.(742-744)gcG>gcA p.A248A OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.2 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 248 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity p.A248A(2) endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCATCCGAGCGGTAAGCCCCC 0.547000 12 62 0 0 1 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979810 12979810 + Silent SNP C C T rs144939857 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:12979810C>T ENST00000361079.2 + 4 1085 c.1002C>T c.(1000-1002)ttC>ttT p.F334F PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGACCCATTTCAGCCCTGAGC 0.577000 11 219 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203681223 203681223 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:203681223G>C ENST00000357681.5 + 13 3290 c.2167G>C c.(2167-2169)Gaa>Caa p.E723Q ATP2B4_ENST00000367219.3_Missense_Mutation_p.E711Q|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E723Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E723Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E723Q NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 723 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTGTGCTTAGAAGGCAAAGA 0.542000 9 81 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86869502 86869502 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:86869502A>G ENST00000373119.4 + 3 801 c.656A>G c.(655-657)aAa>aGa p.K219R KLHL4_ENST00000373114.4_Missense_Mutation_p.K219R NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 219 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CTTGAAGCCAAACAAGAAGAG 0.378000 5 40 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34420399 34420399 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:34420399G>C ENST00000374789.3 - 23 3866 c.3541C>G c.(3541-3543)Caa>Gaa p.Q1181E PARD3_ENST00000346874.4_Missense_Mutation_p.Q1144E|PARD3_ENST00000545693.1_Missense_Mutation_p.Q1165E|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1091E|PARD3_ENST00000374788.3_Missense_Mutation_p.Q1178E|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1135E|PARD3_ENST00000374790.3_Missense_Mutation_p.Q1121E|PARD3_ENST00000374794.3_Missense_Mutation_p.Q1069E NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1181 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ACCCAGGGTTGCTCAAAACTA 0.463000 15 57 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922181 78922181 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:78922181C>G ENST00000261751.3 - 5 577 c.466G>C c.(466-468)Gag>Cag p.E156Q CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 156 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TACTTCACCTCAATCTTGCAG 0.567000 11 74 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4876139 4876139 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:4876139C>G ENST00000361571.5 - 14 2836 c.2425G>C c.(2425-2427)Gag>Cag p.E809Q CAMTA2_ENST00000348066.3_Missense_Mutation_p.E810Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E810Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E812Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E833Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E815Q NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 810 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGTAGTTCCTCAAGGCAGCGG 0.612000 50 164 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88934487 88934487 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:88934487G>C ENST00000556564.1 - 19 3803 c.3519C>G c.(3517-3519)ctC>ctG p.L1173L PTPN21_ENST00000328736.3_Silent_p.L1173L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1173 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 GAGCTTAGATGAGCCTGGAGC 0.468000 39 247 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074639 140074639 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:140074639C>G ENST00000323927.2 - 10 1888 c.1884G>C c.(1882-1884)caG>caC p.Q628H NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 628 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTACCTTGAGCTGCTCATACT 0.632000 5 38 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170055326 170055326 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:170055326C>G ENST00000263816.3 - 45 8833 c.8548G>C c.(8548-8550)Gat>Cat p.D2850H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2850 LDL-receptor class A 19. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACTGTTATCTCCACAGTCA 0.378000 3 38 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111348888 111348888 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:111348888T>C ENST00000228841.8 - 7 541 c.494A>G c.(493-495)aAg>aGg p.K165R MYL2_ENST00000548438.1_Missense_Mutation_p.K151R NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 165 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 CTCCTAGTCCTTCTCTTCTCC 0.602000 16 119 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13712504 13712504 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:13712504C>T ENST00000357447.2 - 17 1644 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K FRMD4A_ENST00000378503.1_Missense_Mutation_p.E426K|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E411K NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 426 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGGGGATATTCTACTGGCAGC 0.512000 15 110 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683806 6683806 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:6683806C>T ENST00000321535.4 + 2 749 c.619C>T c.(619-621)Cac>Tac p.H207Y NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 207 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TTTCAGCCATCACCTTGCTGT 0.493000 15 81 0 0 1 0 0 CTRB2 440387 broad.mit.edu 37 16 75238187 75238187 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:75238187C>T ENST00000303037.8 - 7 707 c.664G>A c.(664-666)Gac>Aac p.D222N NM_001025200.3 NP_001020371.3 Q6GPI1 CTRB2_HUMAN chymotrypsinogen B2 222 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity endometrium(1)|large_intestine(1)|lung(2) 4 CAGGCTCCGTCCTTCTGGCAG 0.652000 6 87 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 228 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1019074 1019074 + Missense_Mutation SNP A A T rs77570255 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:1019074A>T ENST00000398484.2 + 8 2034 c.1454A>T c.(1453-1455)cAc>cTc p.H485L FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 485 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) acacacacacactctcacaca 0.607000 3 16 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112358447 112358447 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:112358447C>T ENST00000206423.3 - 2 1259 c.306G>A c.(304-306)gtG>gtA p.V102V CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.V102V NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 102 p.V102V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GCTCAGGTCTCACGGCGGCCC 0.607000 25 135 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12861592 12861592 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:12861592A>G ENST00000456430.2 + 11 2993 c.2952A>G c.(2950-2952)ccA>ccG p.P984P CAND2_ENST00000295989.5_Silent_p.P891P NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 984 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAGGTCGGCCACACACCCGGA 0.597000 14 106 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079947 31079947 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:31079947G>A ENST00000259870.3 - 2 192 c.189C>T c.(187-189)ccC>ccT p.P63P NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 63 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GGTCCAGAGCGGGCTGCGGAT 0.562000 18 141 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37727078 37727078 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:37727078G>A ENST00000265107.4 + 17 1964 c.1808G>A c.(1807-1809)cGg>cAg p.R603Q NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 603 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTAATCCTCGGGAAGCCATT 0.463000 8 91 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200946381 200946381 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:200946381G>A ENST00000332129.2 - 30 4561 c.4245C>T c.(4243-4245)taC>taT p.Y1415Y KIF21B_ENST00000422435.2_Silent_p.Y1428Y|KIF21B_ENST00000360529.5_Silent_p.Y1415Y|KIF21B_ENST00000461742.2_Silent_p.Y1428Y NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1428 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCGAGGCGGCGTACAGCATGG 0.642000 4 150 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 159046150 159046150 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:159046150C>T ENST00000367090.3 + 12 1391 c.1380C>T c.(1378-1380)ttC>ttT p.F460F NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 460 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TGAAGGTCTTCTTCATGGTGG 0.547000 8 153 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696937 50696937 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:50696937G>C ENST00000008391.3 + 5 1023 c.795G>C c.(793-795)ctG>ctC p.L265L TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 265 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GCCGCTGCCTGAGAGAGAAAT 0.408000 13 124 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705842 65705842 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:65705842G>A ENST00000304842.5 + 2 855 c.430G>A c.(430-432)Gaa>Aaa p.E144K TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 144 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CTTCTTACTAGAAATTATCGT 0.438000 4 86 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196234952 196234952 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:196234952C>T ENST00000397537.2 - 3 607 c.451G>A c.(451-453)Gaa>Aaa p.E151K NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 GTATAGTGTTCTGCCTTGTTA 0.463000 13 105 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47773835 47773835 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:47773835G>A ENST00000221922.6 + 10 1197 c.975G>A c.(973-975)ccG>ccA p.P325P NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 325 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCCGGCCCCCGAAGCCCCCTA 0.642000 9 109 0 0 1 0 0 AP3M2 10947 broad.mit.edu 37 8 42023048 42023048 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:42023048G>T ENST00000518421.1 + 7 1064 c.773G>T c.(772-774)cGc>cTc p.R258L AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.R258L|AP3M2_ENST00000174653.3_Missense_Mutation_p.R258L|AP3M2_ENST00000517922.1_Missense_Mutation_p.R258L NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 258 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GGAAACTTCCGCCTGCTGTCT 0.463000 14 216 2.61681e-11 2.83043e-11 1 1 0 PLIN2 123 broad.mit.edu 37 9 19119764 19119764 + Nonsense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19119764C>A ENST00000276914.2 - 6 840 c.661G>T c.(661-663)Gga>Tga p.G221* PLIN2_ENST00000411567.1_Intron NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 221 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle p.G221*(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 GACAGGGATCCCAGTCTAACA 0.413000 8 140 7.48243e-07 7.90502e-07 1 1 0 IGJ 3512 broad.mit.edu 37 4 71527924 71527924 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:71527924C>T ENST00000254801.4 - 2 242 c.73G>A c.(73-75)Gat>Aat p.D25N IGJ_ENST00000543780.1_Missense_Mutation_p.D41N|ENAM_ENST00000472903.1_3'UTR NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 25 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) ATCCTTTCATCTTCTTGGGCT 0.358000 11 68 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95170811 95170811 + Nonsense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:95170811G>T ENST00000354268.4 + 7 785 c.712G>T c.(712-714)Gaa>Taa p.E238* SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.E238* Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 238 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTAGGGAGAGGAATCAAATGA 0.323000 8 44 1.06961e-07 1.13758e-07 1 1 0 ZNF846 162993 broad.mit.edu 37 19 9868414 9868414 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:9868414C>T ENST00000397902.2 - 6 1752 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 CAGGCCTTTTCTCCAGTGTGA 0.438000 17 69 0 0 1 0 0 PLIN2 123 broad.mit.edu 37 9 19121087 19121087 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19121087G>A ENST00000276914.2 - 5 565 c.386C>T c.(385-387)tCt>tTt p.S129F PLIN2_ENST00000411567.1_Missense_Mutation_p.S129F NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 129 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 GCTGGCCACAGAATCCTTGGC 0.532000 7 72 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672741 77672741 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:77672741G>C ENST00000407578.2 - 56 8814 c.8548C>G c.(8548-8550)Cta>Gta p.L2850V MYCBP2_ENST00000360084.5_Missense_Mutation_p.L335V|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2812V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L2812V NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2812 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTTGAGGTAGATTTTTATCA 0.473000 8 116 0 0 1 0 0 EIF5AL1 143244 broad.mit.edu 37 10 81272751 81272751 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:81272751G>A ENST00000520547.2 + 1 395 c.346G>A c.(346-348)Gag>Aag p.E116K NM_001099692.1 NP_001093162.1 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 1 116 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity endometrium(1) 1 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCGTCTCCCTGAGGGAGACCT 0.537000 6 154 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335705 57335705 + Silent SNP G G T rs141346770 by1000genomes TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:57335705G>T ENST00000326441.9 - 4 682 c.319C>A c.(319-321)Cga>Aga p.R107R ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.R107R|PEG3_ENST00000594706.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 107 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTTTTGCTCGCACCCAAGGC 0.537000 13 154 0.00136819 0.0014035 1 1 0 FUK 197258 broad.mit.edu 37 16 70513198 70513198 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:70513198C>T ENST00000288078.6 + 23 3277 c.3045C>T c.(3043-3045)caC>caT p.H1015H FUK_ENST00000378912.2_Silent_p.H1021H|FUK_ENST00000571514.1_Silent_p.H506H NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 1015 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) TGGCCCCCCACGTGCATGGCC 0.632000 4 75 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53513571 53513571 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:53513571G>A ENST00000357758.3 - 12 2717 c.2534C>T c.(2533-2535)tCc>tTc p.S845F DDHD1_ENST00000395606.1_Missense_Mutation_p.S852F|DDHD1_ENST00000323669.5_Missense_Mutation_p.S873F NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 873 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AACATCCAAGGATGACCAATA 0.433000 11 65 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77600062 77600062 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:77600062G>A ENST00000461745.1 + 8 2053 c.1153G>A c.(1153-1155)Gac>Aac p.D385N ROBO2_ENST00000332191.8_Missense_Mutation_p.D385N|ROBO2_ENST00000487694.3_Missense_Mutation_p.D401N NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 385 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCAACGTTCCGACGCGGGTTA 0.473000 7 74 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102518935 102518935 + Splice_Site SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:102518935G>A ENST00000321521.9 + 25 3496 c.2923G>A c.(2923-2925)Gaa>Aaa p.E975K PPIP5K2_ENST00000358359.3_Splice_Site_p.E975K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Splice_Site_p.E975K O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 975 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCACTTCCAGGAAGAGAGCCC 0.443000 6 36 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347200 57347200 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:57347200G>C ENST00000361249.3 + 5 643 c.547G>C c.(547-549)Ggg>Cgg p.G183R NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 183 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GGTATACAATGGGGAATGGAG 0.463000 8 133 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15894475 15894475 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15894475G>A ENST00000375847.3 + 15 2316 c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Intron NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 718 Poly-Glu. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAAGACAGTCGAAGAGGAGGA 0.498000 11 96 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168250420 168250420 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:168250420G>C ENST00000367821.3 + 1 143 c.92G>C c.(91-93)aGg>aCg p.R31T NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 31 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CAGGCAGGGAGGGAAAAAGGC 0.532000 10 188 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75902129 75902129 + Splice_Site SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:75902129G>A ENST00000274364.6 + 12 1654 c.e12+1 IQGAP2_ENST00000379730.3_Splice_Site NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAAAATGACCGTAAGTATAAG 0.348000 3 35 0 0 1 0 0 CXCR5 643 broad.mit.edu 37 11 118754653 118754653 + Translation_Start_Site SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:118754653G>T ENST00000292174.4 + 1 179 c.3G>T c.(1-3)atG>atT p.M1I NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 1 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCACAGCCATGAACTACCCGC 0.577000 4 16 0.00909568 0.00918231 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 5 73 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328331 137328331 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:137328331C>G ENST00000540193.1 + 9 1892 c.969C>G c.(967-969)ctC>ctG p.L323L RXRA_ENST00000481739.1_Silent_p.L420L|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 420 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding p.L420L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) AGCTCTTGCTCCGCCTGCCGG 0.612000 9 144 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48431297 48431297 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:48431297G>C ENST00000017003.2 + 2 491 c.442G>C c.(442-444)Gag>Cag p.E148Q XYLT2_ENST00000507602.1_Missense_Mutation_p.E148Q NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 148 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) AGGGAGCGTGGAGGGCGCCCC 0.692000 9 47 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448824 39448824 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:39448824C>T ENST00000257408.4 + 4 2575 c.2478C>T c.(2476-2478)ttC>ttT p.F826F NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 826 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 TCAACCACTTCACCACTAGGT 0.657000 21 90 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325730 152325730 + Nonsense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152325730G>C ENST00000388718.5 - 3 4604 c.4532C>G c.(4531-4533)tCa>tGa p.S1511* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1511 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAGCCCCCTGAGTGCACTTC 0.493000 88 364 0 0 1 0 0 FSCN2 25794 broad.mit.edu 37 17 79503966 79503966 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:79503966G>C ENST00000417245.2 + 5 1475 c.1339G>C c.(1339-1341)Gag>Cag p.E447Q FSCN2_ENST00000334850.7_Missense_Mutation_p.E471Q NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 447 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CGAACGCGCCGAGGACTTCGT 0.761000 6 14 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225371615 225371615 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:225371615G>T ENST00000264414.4 - 7 1327 c.989C>A c.(988-990)tCt>tAt p.S330Y CUL3_ENST00000344951.4_Missense_Mutation_p.S264Y|CUL3_ENST00000409096.1_Missense_Mutation_p.S306Y|CUL3_ENST00000409777.1_Missense_Mutation_p.S306Y NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 330 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCCTTCTTCAGAAACAAGAGC 0.378000 8 45 0.00307968 0.00312888 1 1 0 NINL 22981 broad.mit.edu 37 20 25456923 25456923 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:25456923C>T ENST00000278886.6 - 17 3077 c.3004G>A c.(3004-3006)Gag>Aag p.E1002K NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1002 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 AGGGCGCCCTCGGCCCGGGCC 0.677000 12 94 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033806 55033806 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:55033806C>T ENST00000374987.3 + 6 1561 c.1495C>T c.(1495-1497)Cgg>Tgg p.R499W NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 499 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 TGCCAGGCCCCGGGGTCCTCC 0.642000 Other BER factors 4 13 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43898837 43898837 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:43898837G>A ENST00000562955.1 + 39 5609 c.5609G>A c.(5608-5610)cGt>cAt p.R1870H SZT2_ENST00000372442.1_Missense_Mutation_p.R1028H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1927 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGCAGGACCGTGTGGAAGTG 0.607000 13 122 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2762518 2762518 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:2762518C>T ENST00000221566.2 - 7 783 c.622G>A c.(622-624)Gag>Aag p.E208K NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 208 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 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) CTGGGGGCCTCCCGCAGCTTC 0.647000 12 111 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145693121 145693121 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:145693121G>C ENST00000301332.2 + 6 1017 c.640G>C c.(640-642)Gaa>Caa p.E214Q KIFC2_ENST00000301331.5_5'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 214 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCAGCAGCTGGAACAGCAGGA 0.647000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 97 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41870164 41870164 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:41870164A>G ENST00000263798.3 + 19 2587 c.2363A>G c.(2362-2364)aAc>aGc p.N788S TYRO3_ENST00000559066.1_Missense_Mutation_p.N743S NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 788 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAACTGGAGAACATCTTGGGC 0.572000 4 109 0 0 1 0 0 PLIN2 123 broad.mit.edu 37 9 19119735 19119735 + Silent SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19119735A>T ENST00000276914.2 - 6 869 c.690T>A c.(688-690)cgT>cgA p.R230R PLIN2_ENST00000411567.1_Intron NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 230 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 GCTGGTAGGCACGGGAGTGAA 0.433000 10 140 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098534 78098536 + In_Frame_Del DEL AGT AGT - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:78098534_78098536delAGT ENST00000370801.3 - 5 979_981 c.504_506delACT c.(502-507)atactg>atg p.168_169IL>M ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 ACAATCATCCAGTATAAGACATC 0.409 14 223 --- --- --- --- TXNIP 10628 broad.mit.edu 37 1 145440508 145440509 + Frame_Shift_Ins INS - - T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440508_145440509insT ENST00000369317.4 + 5 1148_1149 c.814_815insT c.(814-816)gttfs p.V272fs TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 272 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCCTTCGAGTTGAATATTCC 0.485 20 184 --- --- --- --- GPR75 10936 broad.mit.edu 37 2 54080472 54080472 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:54080472delG ENST00000394705.2 - 2 1692 c.1422delC c.(1420-1422)cccfs p.P474fs ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 474 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GAGTGTTGATGGGGGTCGAGC 0.493 19 312 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 4 4 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gacgat>gat p.541_542DD>D DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 110 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 2 4 --- --- --- --- LOC101928451 101928451 broad.mit.edu 37 7 128249538 128249539 + RNA INS - - AC TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:128249538_128249539insAC ENST00000605862.1 + 0 665 TTTGTCTCTGTAGTCCAACCTC 0.356 12 40 --- --- --- --- TRBV6-5 28602 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 9 156 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggtfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 7 464 --- --- --- --- HCAR1 27198 broad.mit.edu 37 12 123214852 123214853 + Frame_Shift_Ins INS - - C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:123214852_123214853insC ENST00000432564.1 - 1 276_277 c.34_35insG c.(34-36)gacfs p.D12fs HCAR1_ENST00000436083.2_Frame_Shift_Ins_p.D12fs|HCAR1_ENST00000356987.2_Frame_Shift_Ins_p.D12fs NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 12 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 GGAGATGGTGTCCCCCTCGATG 0.619 8 53 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4165-4167)aaafs p.K1389fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1389 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 7 146 --- --- --- --- TBC1D24 57465 broad.mit.edu 37 16 2546657 2546657 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:2546657delG ENST00000567020.1 + 2 648 c.508delG c.(508-510)gacfs p.D170fs TBC1D24_ENST00000434757.2_Frame_Shift_Del_p.D170fs|RP11-20I23.1_ENST00000564543.1_Frame_Shift_Del_p.D170fs|TBC1D24_ENST00000293970.5_Frame_Shift_Del_p.D170fs NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 170 Rab-GAP TBC. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 GAGGCTGATCGACCAGAGCTT 0.632 7 64 --- --- --- --- MNT 4335 broad.mit.edu 37 17 2290220 2290220 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:2290220delG ENST00000174618.4 - 6 2129 c.1724delC c.(1723-1725)ccafs p.P575fs NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 575 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) TGTGCTGACTGGGAAGGAGGG 0.667 2 4 --- --- --- --- ARHGEF6 9459 broad.mit.edu 37 X 135814312 135814312 + Frame_Shift_Del DEL T T - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:135814312delT ENST00000250617.6 - 6 1886 c.681delA c.(679-681)aaafs p.K227fs ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.K73fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.K100fs|ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.K73fs NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 227 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTTTGACGGCTTTTGGGGAGA 0.328 2 4 --- --- --- ---