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 PHACTR2 9749 broad.mit.edu 37 6 144098521 144098521 + Splice_Site SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:144098521G>C ENST00000427704.2 + 9 1742 c.e9+1 PHACTR2_ENST00000367584.4_Splice_Site|PHACTR2_ENST00000367582.3_Splice_Site|PHACTR2_ENST00000305766.6_Splice_Site|PHACTR2_ENST00000440869.2_Splice_Site NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) ATCCTAAAACGTGAGTATTCT 0.358000 8 12 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44115979 44115979 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:44115979C>T ENST00000262419.6 - 10 2936 c.2466G>A c.(2464-2466)ttG>ttA p.L822L KANSL1_ENST00000572904.1_Silent_p.L822L|KANSL1_ENST00000432791.1_Silent_p.L822L|KANSL1_ENST00000393476.3_Silent_p.L116L|KANSL1_ENST00000574590.1_Silent_p.L822L|KANSL1_ENST00000575318.1_Silent_p.L759L NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 822 MLL1 complex protein binding GCTGTCGCACCAAGGGACTGT 0.557000 8 41 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165555944 165555944 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:165555944A>G ENST00000375458.2 - 10 1747 c.1526T>C c.(1525-1527)tTg>tCg p.L509S COBLL1_ENST00000392717.2_Missense_Mutation_p.L586S|COBLL1_ENST00000194871.6_Missense_Mutation_p.L614S|COBLL1_ENST00000342193.4_Missense_Mutation_p.L548S|COBLL1_ENST00000409184.3_Missense_Mutation_p.L547S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 586 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CAACGACTTCAAGTTTCTTAT 0.348000 28 106 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.3_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 209 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210348 28210348 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:28210348T>C ENST00000284984.3 - 9 2908 c.2454A>G c.(2452-2454)aaA>aaG p.K818K NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TCAAGGGCTCTTTGAGAGGGC 0.448000 15 40 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3067313 3067313 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:3067313C>T ENST00000400569.3 - 38 5338 c.5005G>A c.(5005-5007)Gag>Aag p.E1669K MYOM1_ENST00000261606.7_Missense_Mutation_p.E1573K|MYOM1_ENST00000356443.4_Missense_Mutation_p.E1669K P52179 MYOM1_HUMAN myomesin 1 1669 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATCCTCGCCTCCTCCTCTGGG 0.607000 6 25 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160905249 160905249 + RNA SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:160905249G>C ENST00000335388.5 - 0 878 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) ACAGGATCTGGATTCCTGCAG 0.507000 10 50 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112732136 112732136 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:112732136G>A ENST00000314400.5 - 4 647 c.456C>T c.(454-456)tgC>tgT p.C152C C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_Silent_p.C16C NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 152 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTTTGCAGCAGCAGTCCAACA 0.388000 19 36 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142222235 142222235 + Missense_Mutation SNP T T C rs143806447 byFrequency TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:142222235T>C ENST00000350721.4 - 30 5378 c.5257A>G c.(5257-5259)Atc>Gtc p.I1753V ATR_ENST00000383101.3_Missense_Mutation_p.I1689V NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1753 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACCTGAGTGATAACAGTAGAC 0.303000 Other conserved DNA damage response genes 92 80 0 0 1 0 0 DNAJA4 55466 broad.mit.edu 37 15 78557111 78557111 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:78557111G>A ENST00000394855.3 + 2 321 c.93G>A c.(91-93)gtG>gtA p.V31V DNAJA4_ENST00000394852.3_Silent_p.V2V|DNAJA4_ENST00000343789.3_Silent_p.V2V|DNAJA4_ENST00000489435.2_Silent_p.V31V NM_018602.3 NP_061072.3 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 2 J. protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 ACAAGATGGTGAAGGAGACCC 0.721000 6 7 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071766 134071766 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:134071766C>T ENST00000264360.5 + 1 1297 c.471C>T c.(469-471)cgC>cgT p.R157R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACTCCTTGCGCGACTACGAGA 0.622000 6 80 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10532575 10532575 + Translation_Start_Site SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:10532575C>A ENST00000377038.3 - 0 8 NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AGCGGCGGTCCTTCTACTCGA 0.632000 6 9 0.0215528 0.0225769 1 1 0 MYH13 8735 broad.mit.edu 37 17 10219292 10219292 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:10219292G>C ENST00000418404.3 - 27 3952 c.3789C>G c.(3787-3789)atC>atG p.I1263M RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.I1263M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1263 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTTGGCTTTGATTTCACTAA 0.443000 3 44 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605253 37605253 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:37605253G>A ENST00000399151.3 + 15 2587 c.2502G>A c.(2500-2502)aaG>aaA p.K834K NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 834 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTGAAGACAAGATGAAACGCT 0.498000 55 76 0 0 1 0 0 SETD6 79918 broad.mit.edu 37 16 58552690 58552690 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:58552690T>C ENST00000394266.4 + 9 1028 c.972T>C c.(970-972)gaT>gaC p.D324D SETD6_ENST00000219315.4_Silent_p.D393D|SETD6_ENST00000310682.2_Silent_p.D369D Q8TBK2 SETD6_HUMAN SET domain containing 6 393 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 GGGGAGATGATAAAAGGGAAG 0.473000 16 34 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182554725 182554725 + Missense_Mutation SNP G G C rs145787003 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:182554725G>C ENST00000367559.3 - 2 1470 c.1217C>G c.(1216-1218)tCt>tGt p.S406C RNASEL_ENST00000444138.1_Missense_Mutation_p.S406C|RNASEL_ENST00000539397.1_Missense_Mutation_p.S406C NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 406 Protein kinase. S -> F. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTGCAGACAAGAGACTTCCCG 0.532000 31 53 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25811918 25811918 + Silent SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:25811918C>G ENST00000244527.4 - 9 1093 c.978G>C c.(976-978)ctG>ctC p.L326L SLC17A1_ENST00000476801.1_Silent_p.L326L|SLC17A1_ENST00000468082.1_Silent_p.L272L|SLC17A1_ENST00000427328.1_Silent_p.L272L NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 326 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TATTCCTGGTCAGGAAGAAGT 0.453000 12 38 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769550 31769550 + Silent SNP C C T rs148943651 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:31769550C>T ENST00000240587.4 - 2 1476 c.1149G>A c.(1147-1149)tcG>tcA p.S383S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 383 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCAGGATCTGCGACTTCCGGG 0.547000 74 127 0 0 1 0 0 MESP1 55897 broad.mit.edu 37 15 90293764 90293764 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:90293764C>T ENST00000300057.4 - 1 777 c.699G>A c.(697-699)gcG>gcA p.A233A MESP1_ENST00000559894.1_Intron NM_018670.3 NP_061140.1 Q9BRJ9 MESP1_HUMAN mesoderm posterior 1 homolog (mouse) 233 cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|kidney(1) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TTGGCTCCATCGCCTGCCCTT 0.761000 5 6 0 0 1 0 0 TM2D2 83877 broad.mit.edu 37 8 38852965 38852965 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:38852965C>G ENST00000412303.1 - 2 452 c.58G>C c.(58-60)Gac>Cac p.D20H TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000456397.2_Intron|TM2D2_ENST00000456845.2_Missense_Mutation_p.D20H|TM2D2_ENST00000397070.2_Missense_Mutation_p.D20H NM_001024380.1|NM_001024381.1|NM_031940.3 NP_001019551.1|NP_001019552.1|NP_114146.3 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 0 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ATCATACGGTCTTTGCAAATC 0.423000 35 58 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53602629 53602629 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:53602629C>T ENST00000342160.3 - 44 6461 c.6004G>A c.(6004-6006)Gat>Aat p.D2002N HUWE1_ENST00000262854.6_Missense_Mutation_p.D2002N Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2002 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GACTGCGTATCAAAGTCACTG 0.453000 7 20 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43945692 43945692 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:43945692G>C ENST00000389420.3 - 1 32 c.33C>G c.(31-33)ctC>ctG p.L11L ADAMTS20_ENST00000553158.1_Silent_p.L11L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 11 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGAGATGGTAGAGCAGCCCAG 0.647000 8 39 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677103 36677103 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:36677103G>A ENST00000265113.4 + 6 1153 c.677G>A c.(676-678)cGa>cAa p.R226Q CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226Q NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 226 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R226Q(2)|p.R226L(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) ACTCTTACCCGAATCACAGAG 0.488000 17 85 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507320 26507320 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:26507320A>G ENST00000361530.6 + 3 470 c.325A>G c.(325-327)Att>Gtt p.I109V CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.I109V Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 109 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CAAGACCCCTATTGATGTCCT 0.582000 15 40 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60088210 60088210 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:60088210C>G ENST00000397786.2 - 9 1744 c.1668G>C c.(1666-1668)caG>caC p.Q556H NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 556 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AATGTTGACTCTGAGGAGTTG 0.448000 26 87 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97987274 97987274 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:97987274C>T ENST00000224337.5 - 5 394 c.253G>A c.(253-255)Gtg>Atg p.V85M BLNK_ENST00000371176.2_Missense_Mutation_p.V85M|BLNK_ENST00000427367.2_Missense_Mutation_p.V85M|BLNK_ENST00000413476.2_Missense_Mutation_p.V85M NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 85 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) GCGGGCATCACGTACATCTCT 0.597000 31 92 0 0 1 0 0 MYNN 55892 broad.mit.edu 37 3 169497252 169497252 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:169497252G>T ENST00000349841.5 + 3 1626 c.963G>T c.(961-963)atG>atT p.M321I MYNN_ENST00000356716.4_Missense_Mutation_p.M321I|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.M321I|MYNN_ENST00000544106.1_Missense_Mutation_p.M321I NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 321 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GAAGGCACATGAGAATACATA 0.453000 3 34 0.115264 0.117939 1 1 0 GTF3C2 2976 broad.mit.edu 37 2 27566208 27566208 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:27566208C>G ENST00000359541.2 - 2 643 c.214G>C c.(214-216)Gag>Cag p.E72Q GTF3C2_ENST00000264720.3_Missense_Mutation_p.E72Q Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 72 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTCCTGCTCTGGAGGGAGC 0.488000 46 151 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157435453 157435453 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:157435453C>G ENST00000310454.6 + 14 2192 c.1820C>G c.(1819-1821)tCt>tGt p.S607C GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.S380C|GPD2_ENST00000409674.1_Missense_Mutation_p.S607C|GPD2_ENST00000438166.2_Missense_Mutation_p.S607C NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 607 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GGCTATAAATCTCGATCAGAA 0.343000 3 70 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21596141 21596141 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:21596141C>G ENST00000244745.1 + 1 2170 c.1376C>G c.(1375-1377)tCg>tGg p.S459W SOX4_ENST00000543472.1_Missense_Mutation_p.S459W NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 459 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GAGATGATCTCGGGAGACTGG 0.622000 3 6 0 0 1 0 0 SHPK 23729 broad.mit.edu 37 17 3527418 3527418 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:3527418G>C ENST00000225519.3 - 3 520 c.418C>G c.(418-420)Ctg>Gtg p.L140V NM_013276.2 NP_037408 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 140 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) GGCTGGGGCAGAGAGGCCAGG 0.582000 3 31 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957169 35957169 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:35957169C>A ENST00000341959.2 - 1 982 c.927G>T c.(925-927)agG>agT p.R309S NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TCAGCAGTCTCCTCACAGCAG 0.502000 4 85 0.184627 0.186551 1 1 0 HIVEP2 3097 broad.mit.edu 37 6 143093773 143093773 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:143093773C>G ENST00000367603.2 - 5 2845 c.2103G>C c.(2101-2103)aaG>aaC p.K701N HIVEP2_ENST00000367604.1_Missense_Mutation_p.K701N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K701N NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCCCTACGCTCTTCTCTTTCC 0.512000 25 96 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10291537 10291537 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:10291537G>C ENST00000340748.4 - 3 377 c.142C>G c.(142-144)Ctc>Gtc p.L48V DNMT1_ENST00000540357.1_Missense_Mutation_p.L48V|DNMT1_ENST00000359526.4_Missense_Mutation_p.L48V P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 48 Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCGTGCAAGAGATTCAATTTC 0.368000 6 24 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124475437 124475437 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:124475437C>T ENST00000357628.3 - 15 1999 c.1401G>A c.(1399-1401)tcG>tcA p.S467S POT1_ENST00000393329.1_Silent_p.S336S NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 467 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TAAACTTGTTCGAGAGTTTGC 0.358000 17 53 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116720707 116720707 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:116720707G>T ENST00000331677.3 + 3 738 c.294G>T c.(292-294)tgG>tgT p.W98C DSE_ENST00000537543.1_Missense_Mutation_p.W117C|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.W98C|DSE_ENST00000452085.3_Missense_Mutation_p.W98C Q9UL01 DSE_HUMAN dermatan sulfate epimerase 98 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GTGCCCGCTGGAATGAAATTT 0.537000 9 29 0.0581538 0.0600097 1 1 0 UBR5 51366 broad.mit.edu 37 8 103293699 103293699 + Silent SNP T T A rs139611652 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:103293699T>A ENST00000520539.1 - 41 6351 c.5745A>T c.(5743-5745)ggA>ggT p.G1915G UBR5_ENST00000521922.1_Silent_p.G1909G|UBR5_ENST00000220959.4_Silent_p.G1915G NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1915 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTAGGAAGTCTCCTCGTGCAG 0.403000 13 72 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67434384 67434384 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:67434384G>T ENST00000349015.3 - 3 461 c.23C>A c.(22-24)aCg>aAg p.T8K ALDH3B2_ENST00000531881.1_5'UTR|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.T8K NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 8 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase p.T8R(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CACCAGGTTCGTGGACCGTGG 0.642000 3 31 0.150653 0.15286 1 1 0 ICAM3 3385 broad.mit.edu 37 19 10445852 10445852 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:10445852G>T ENST00000589261.1 - 4 1128 c.596C>A c.(595-597)gCc>gAc p.A199D ICAM3_ENST00000160262.5_Missense_Mutation_p.A276D P32942 ICAM3_HUMAN intercellular adhesion molecule 3 276 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) TGTGGCTGTGGCCGTTAGCGT 0.657000 5 153 0.217242 0.218594 1 1 0 TAOK2 9344 broad.mit.edu 37 16 29994547 29994547 + Missense_Mutation SNP A A T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:29994547A>T ENST00000308893.4 + 12 2197 c.1154A>T c.(1153-1155)gAg>gTg p.E385V TAOK2_ENST00000543033.1_Missense_Mutation_p.E385V|TAOK2_ENST00000279394.3_Missense_Mutation_p.E385V|TAOK2_ENST00000416441.2_Missense_Mutation_p.E212V NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 385 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 gaggaggaggaggaagaggag 0.607000 6 65 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49679857 49679857 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:49679857G>C ENST00000296452.4 + 3 904 c.790G>C c.(790-792)Gag>Cag p.E264Q NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 264 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCAGACCAAGAGAGATCTCG 0.697000 4 9 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43801713 43801713 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:43801713G>C ENST00000403856.1 - 12 1638 c.1491C>G c.(1489-1491)ctC>ctG p.L497L THADA_ENST00000404790.1_Silent_p.L497L|THADA_ENST00000405006.4_Silent_p.L497L|THADA_ENST00000405975.2_Silent_p.L497L|THADA_ENST00000402360.2_Silent_p.L497L|THADA_ENST00000415080.2_Silent_p.L207L|THADA_ENST00000330266.7_Silent_p.L207L Q6YHU6 THADA_HUMAN thyroid adenoma associated 497 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TGGTTTCCAAGAGGTCACTTG 0.413000 3 60 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 24051785 24051785 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:24051785G>A ENST00000238789.5 - 15 2096 c.1753C>T c.(1753-1755)Cat>Tat p.H585Y ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 585 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCTGGTATGGATCTGTAAG 0.338000 4 38 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887975 3887975 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:3887975G>C ENST00000319331.3 + 2 2411 c.1650G>C c.(1648-1650)atG>atC p.M550I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 550 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCAATGTCATGACGTCAAACT 0.433000 52 222 0 0 1 0 0 C19orf53 28974 broad.mit.edu 37 19 13885342 13885342 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:13885342G>C ENST00000588234.1 + 1 361 c.51G>C c.(49-51)aaG>aaC p.K17N NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 17 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) CAAAGAGTAAGACGGCAGCGG 0.662000 5 25 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116720706 116720706 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:116720706G>C ENST00000331677.3 + 3 737 c.293G>C c.(292-294)tGg>tCg p.W98S DSE_ENST00000537543.1_Missense_Mutation_p.W117S|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.W98S|DSE_ENST00000452085.3_Missense_Mutation_p.W98S Q9UL01 DSE_HUMAN dermatan sulfate epimerase 98 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGTGCCCGCTGGAATGAAATT 0.542000 9 29 0 0 1 0 0 NRBP1 29959 broad.mit.edu 37 2 27662724 27662724 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:27662724C>T ENST00000233557.3 + 12 1827 c.995C>T c.(994-996)tCg>tTg p.S332L NRBP1_ENST00000379863.3_Missense_Mutation_p.S340L|NRBP1_ENST00000379852.3_Missense_Mutation_p.S332L Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 332 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) GAAGTGCCCTCGCTCAAACTC 0.522000 44 91 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83335615 83335615 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:83335615G>T ENST00000261722.3 - 15 1943 c.1736C>A c.(1735-1737)gCg>gAg p.A579E AP3B2_ENST00000535348.1_Missense_Mutation_p.A547E|AP3B2_ENST00000535359.1_Missense_Mutation_p.A579E|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 579 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGTGAAGCGCGCCCGGTCGCG 0.597000 4 49 0.00909568 0.00967413 1 1 0 PLEKHM1 9842 broad.mit.edu 37 17 43552640 43552640 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:43552640G>A ENST00000430334.3 - 4 882 c.749C>T c.(748-750)tCc>tTc p.S250F PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S161F NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 250 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GCTGAGGGAGGAGGCAGTCAG 0.522000 10 40 0 0 1 0 0 PWP1 11137 broad.mit.edu 37 12 108086623 108086623 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:108086623C>G ENST00000412830.3 + 4 520 c.352C>G c.(352-354)Ctt>Gtt p.L118V PWP1_ENST00000541166.1_Missense_Mutation_p.L56V NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 118 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 TCTCTTGGGTCTTACGGTCTA 0.323000 12 39 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25972772 25972772 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:25972772C>T ENST00000435504.4 - 12 1946 c.1653G>A c.(1651-1653)atG>atA p.M551I ASXL2_ENST00000404843.1_Missense_Mutation_p.M291I|ASXL2_ENST00000336112.4_Missense_Mutation_p.M523I|ASXL2_ENST00000272341.4_Missense_Mutation_p.M291I Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGTTCTTTCATATTAGTCT 0.502000 35 108 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833576 61833576 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:61833576C>T ENST00000280772.2 - 37 7254 c.7063G>A c.(7063-7065)Gaa>Aaa p.E2355K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATTTCTTTTTCTGGATGCTTT 0.378000 32 99 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47389275 47389275 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:47389275C>G ENST00000426342.1 - 10 2030 c.1284G>C c.(1282-1284)tgG>tgC p.W428C MDGA2_ENST00000439988.3_Missense_Mutation_p.W726C|MDGA2_ENST00000357362.3_Missense_Mutation_p.W428C|MDGA2_ENST00000399232.2_Missense_Mutation_p.W657C NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 657 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCATCTGTGTCCACTGTAGAC 0.433000 12 46 0 0 1 0 0 CD27 939 broad.mit.edu 37 12 6560112 6560112 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:6560112C>G ENST00000266557.3 + 5 819 c.590C>G c.(589-591)tCt>tGt p.S197C CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 197 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 GTGATCTTCTCTGGAATGTTC 0.527000 33 147 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 894630 894630 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:894630G>C ENST00000456758.2 + 17 1904 c.1904G>C c.(1903-1905)aGa>aCa p.R635T SUN1_ENST00000405266.1_Missense_Mutation_p.R483T|SUN1_ENST00000452783.2_Missense_Mutation_p.R343T|SUN1_ENST00000401592.1_Missense_Mutation_p.R446T|SUN1_ENST00000425407.2_Missense_Mutation_p.R363T|SUN1_ENST00000389574.3_Missense_Mutation_p.R363T|SUN1_ENST00000413514.2_Missense_Mutation_p.R244T O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 473 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGAAAACTGAGAGAAAAATCT 0.328000 3 44 0 0 1 0 0 MIR513A2 574510 broad.mit.edu 37 X 146307350 146307350 + RNA SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:146307350C>A ENST00000385249.1 - 0 120 NR_030232.1 Tcagggacaccacatatgcag 0.478000 3 46 0.115264 0.117939 1 1 0 MAPK14 1432 broad.mit.edu 37 6 36043703 36043703 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:36043703G>C ENST00000229795.3 + 7 1021 c.574G>C c.(574-576)Gag>Cag p.E192Q MAPK14_ENST00000310795.4_Missense_Mutation_p.E192Q|MAPK14_ENST00000468133.1_Missense_Mutation_p.E115Q|MAPK14_ENST00000229794.4_Missense_Mutation_p.E192Q NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 192 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 CAGGGCTCCTGAGATCATGCT 0.468000 16 42 0 0 1 0 0 TMEM65 157378 broad.mit.edu 37 8 125339618 125339618 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:125339618C>G ENST00000297632.6 - 3 928 c.394G>C c.(394-396)Gat>Cat p.D132H NM_194291.2 NP_919267.2 Q6PI78 TMM65_HUMAN transmembrane protein 65 132 integral to membrane cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 6 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTGCATTATCCAAAAAGCCA 0.279000 10 31 0 0 1 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460263 32460263 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:32460263G>A ENST00000306901.3 + 10 1210 c.1113G>A c.(1111-1113)atG>atA p.M371I CHRNA7_ENST00000455693.2_Missense_Mutation_p.M190I|CHRNA7_ENST00000454250.3_Missense_Mutation_p.M400I NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 371 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) GTGTGGAGATGAGCGCCGTGG 0.716000 11 69 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19632604 19632604 + Splice_Site SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:19632604G>A ENST00000299295.2 + 4 1025 c.e4+1 CHODL_ENST00000400127.1_Splice_Site|CHODL_ENST00000338326.3_Splice_Site|CHODL_ENST00000400135.1_Splice_Site|CHODL_ENST00000400128.1_Splice_Site|CHODL_ENST00000543733.1_Splice_Site|CHODL_ENST00000400131.1_Splice_Site NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) ACTGAAGCAGGTAATTACTTC 0.403000 23 56 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107591392 107591392 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:107591392C>A ENST00000374736.3 - 15 2314 c.1920G>T c.(1918-1920)atG>atT p.M640I ABCA1_ENST00000494467.1_5'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 640 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGAAGAGGGGCATTGACCGGC 0.567000 8 28 0.000157383 0.000176284 1 1 0 GPR98 84059 broad.mit.edu 37 5 89925318 89925318 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:89925318G>C ENST00000405460.2 + 9 1897 c.1801G>C c.(1801-1803)Gat>Cat p.D601H NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 601 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.D601N(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) aataagaaatgatgcattcct 0.333000 12 18 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88026829 88026829 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:88026829G>A ENST00000307808.6 + 8 1732 c.1312G>A c.(1312-1314)Gaa>Aaa p.E438K AFF1_ENST00000544085.1_Missense_Mutation_p.E76K|AFF1_ENST00000395146.4_Missense_Mutation_p.E445K NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 438 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CAGTGACAGTGAACAAGTAAG 0.428000 5 61 0 0 1 0 0 ZNF696 79943 broad.mit.edu 37 8 144378545 144378545 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:144378545G>C ENST00000330143.3 + 3 1109 c.700G>C c.(700-702)Gag>Cag p.E234Q NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CCACACCGGGGAGAGGCTGTA 0.721000 4 23 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3777907 3777907 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:3777907C>A ENST00000262367.5 - 31 7950 c.7141G>T c.(7141-7143)Ggt>Tgt p.G2381C CREBBP_ENST00000382070.3_Missense_Mutation_p.G2343C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2381 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGGGGGAACCAGTCTGGGGT 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 21 53 8.04996e-18 1.01673e-17 1 1 0 PAPLN 89932 broad.mit.edu 37 14 73718408 73718408 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:73718408G>T ENST00000427855.1 + 9 809 c.707G>T c.(706-708)gGg>gTg p.G236V PAPLN_ENST00000555445.1_Missense_Mutation_p.G236V|PAPLN_ENST00000381166.3_Missense_Mutation_p.G236V|PAPLN_ENST00000340738.5_Missense_Mutation_p.G209V|PAPLN_ENST00000554301.1_Missense_Mutation_p.G236V O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 236 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TACCTCAATGGGCACTGGACC 0.662000 4 107 0.00909568 0.00967413 1 1 0 OASL 8638 broad.mit.edu 37 12 121465522 121465522 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:121465522C>G ENST00000257570.5 - 4 1026 c.756G>C c.(754-756)gaG>gaC p.E252D OASL_ENST00000339275.5_Intron NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 252 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACATGAAATTCTCGTCTTCTT 0.483000 25 39 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365525 109365525 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:109365525G>C ENST00000283195.6 + 9 1339 c.1213G>C c.(1213-1215)Gat>Cat p.D405H NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 405 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGGTAGCGATGATATTGGAAA 0.383000 72 298 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27284167 27284167 + Missense_Mutation SNP C C G rs140304729 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:27284167C>G ENST00000358918.3 - 14 1994 c.1795G>C c.(1795-1797)Gaa>Caa p.E599Q APP_ENST00000439274.2_Missense_Mutation_p.E543Q|APP_ENST00000348990.5_Missense_Mutation_p.E524Q|APP_ENST00000346798.3_Missense_Mutation_p.E599Q|APP_ENST00000448388.2_Missense_Mutation_p.E489Q|APP_ENST00000354192.3_Missense_Mutation_p.E468Q|APP_ENST00000440126.3_Missense_Mutation_p.E575Q|APP_ENST00000359726.3_Missense_Mutation_p.E543Q|APP_ENST00000357903.3_Missense_Mutation_p.E580Q NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 599 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GTTTTCGTTTCGGTCAAAGAT 0.502000 25 103 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50305837 50305837 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:50305837G>A ENST00000359032.5 + 16 2161 c.2161G>A c.(2161-2163)Gac>Aac p.D721N AP2A1_ENST00000354293.5_Intron NM_014203.2 NP_055018.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 721 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TTTGCTGGCTGACCCAGCTCC 0.682000 3 8 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185270194 185270194 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:185270194C>G ENST00000367498.3 - 10 1652 c.1030G>C c.(1030-1032)Gat>Cat p.D344H IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.D126H NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 344 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 ATTAGCTCATCTTGTTGCATC 0.433000 18 46 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10291220 10291220 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:10291220G>C ENST00000340748.4 - 4 486 c.251C>G c.(250-252)tCc>tGc p.S84C DNMT1_ENST00000540357.1_Missense_Mutation_p.S84C|DNMT1_ENST00000359526.4_Missense_Mutation_p.S84C P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 84 Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ATTTAAAAGGGATTTGACTTT 0.428000 27 63 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156721804 156721804 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:156721804G>T ENST00000347377.6 + 4 651 c.220G>T c.(220-222)Gag>Tag p.E74* CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.E74*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.E74* NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 74 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGAGATGCTGGAGGAAGGACA 0.542000 4 25 0.000602214 0.000665317 1 1 0 PRL 5617 broad.mit.edu 37 6 22287784 22287784 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:22287784G>C ENST00000306482.1 - 5 1049 c.531C>G c.(529-531)gtC>gtG p.V177V RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 177 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) GTCCCGACCAGACAGGGTAGA 0.413000 9 39 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 5 83 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121780284 121780284 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:121780284C>T ENST00000261367.7 + 10 3018 c.1590C>T c.(1588-1590)gtC>gtT p.V530V SNCAIP_ENST00000542191.1_Silent_p.V41V|SNCAIP_ENST00000379538.3_Silent_p.V117V|SNCAIP_ENST00000379536.2_Silent_p.V423V|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.V483V|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.V85V|SNCAIP_ENST00000379533.2_Silent_p.V530V|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 483 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GAGCAAATGTCACCATGCAGA 0.502000 7 72 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170327844 170327844 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:170327844C>A ENST00000439128.2 - 30 3833 c.3193G>T c.(3193-3195)Gat>Tat p.D1065Y NEK1_ENST00000510533.1_Missense_Mutation_p.D1021Y|NEK1_ENST00000507142.1_Missense_Mutation_p.D1093Y|NEK1_ENST00000512193.1_Missense_Mutation_p.D996Y|NEK1_ENST00000511633.1_Missense_Mutation_p.D1049Y NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1065 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) GTGGGAACATCCATAAGGGTT 0.333000 3 33 1 1 1 1 0 ZNF793 390927 broad.mit.edu 37 19 38027962 38027962 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:38027962G>C ENST00000445217.1 + 4 437 c.402G>C c.(400-402)caG>caC p.Q134H ZNF793_ENST00000589319.1_Missense_Mutation_p.Q134H|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.Q134H|ZNF793_ENST00000587143.1_Missense_Mutation_p.Q134H Q6ZN11 ZN793_HUMAN zinc finger protein 793 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTCAATCCAGAGCCCTAGTA 0.363000 10 25 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22191810 22191810 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:22191810C>T ENST00000374695.3 - 35 4442 c.4363G>A c.(4363-4365)Gag>Aag p.E1455K NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1455 Laminin IV type A 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTCCTCCTCTCAGGGCCCTGC 0.627000 10 59 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80439972 80439972 + Missense_Mutation SNP G G A rs146671063 by1000genomes TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:80439972G>A ENST00000265361.3 - 6 1054 c.493C>T c.(493-495)Cgc>Tgc p.R165C SEMA3C_ENST00000419255.2_Missense_Mutation_p.R165C|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R17C|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R183C NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 165 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AAAGAGCAGCGTCCTTTTCCA 0.358000 32 59 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183437 33183437 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:33183437A>G ENST00000397061.3 + 1 571 c.571A>G c.(571-573)Atc>Gtc p.I191V NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 191 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) CACACCCGACATCTGGGCGCT 0.716000 11 15 0 0 1 0 0 JMJD6 23210 broad.mit.edu 37 17 74714847 74714847 + Missense_Mutation SNP G G A rs149210415 by1000genomes TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:74714847G>A ENST00000585429.1 - 5 1064 c.1037C>T c.(1036-1038)aCg>aTg p.T346M JMJD6_ENST00000397625.4_Silent_p.D392D|JMJD6_ENST00000445478.2_Silent_p.D392D Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 0 Ser-rich. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 TGACACAGTCGTCCTGGGAGG 0.632000 14 39 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89799951 89799951 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:89799951G>T ENST00000289816.5 + 8 1429 c.1117G>T c.(1117-1119)Gct>Tct p.A373S ZNF276_ENST00000446326.2_Missense_Mutation_p.A234S|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448S|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356S NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GTACCGAGGCGCTGACGGCAT 0.622000 5 83 0.00116845 0.00127062 1 1 0 APBA2 321 broad.mit.edu 37 15 29346705 29346705 + Silent SNP C C T rs111870710 byFrequency TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:29346705C>T ENST00000558402.1 + 5 1217 c.618C>T c.(616-618)ggC>ggT p.G206G APBA2_ENST00000561069.1_Silent_p.G206G|APBA2_ENST00000411764.1_Silent_p.G206G|APBA2_ENST00000558259.1_Silent_p.G206G|APBA2_ENST00000558330.1_Silent_p.G206G Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 206 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding p.G206G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGAACACCGGCGCCTCCCCCT 0.607000 5 11 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20069162 20069162 + Splice_Site SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:20069162G>A ENST00000276390.2 + 7 643 c.e7-1 NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TTGTTCATCAGATTGCAGCTC 0.333000 3 11 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725932 130725932 + RNA SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:130725932C>T ENST00000412425.1 - 0 686 NR_036537.1 TGAGCCTGACCACTTGTGTTG 0.393000 9 45 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133196895 133196895 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:133196895C>G ENST00000389110.3 + 6 634 c.597C>G c.(595-597)atC>atG p.I199M P2RX2_ENST00000449132.2_Missense_Mutation_p.Q164E|P2RX2_ENST00000352418.4_Missense_Mutation_p.I127M|P2RX2_ENST00000350048.5_Missense_Mutation_p.I175M|P2RX2_ENST00000348800.5_Missense_Mutation_p.I199M|P2RX2_ENST00000351222.4_Missense_Mutation_p.I107M|P2RX2_ENST00000343948.4_Missense_Mutation_p.I199M NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 199 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CCATCCTCATCAAGAACAGCA 0.567000 6 47 0 0 1 0 0 SYPL1 6856 broad.mit.edu 37 7 105732365 105732365 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:105732365C>G ENST00000455385.2 - 5 734 c.612G>C c.(610-612)atG>atC p.M204I SYPL1_ENST00000011473.2_Missense_Mutation_p.M222I|SYPL1_ENST00000470347.1_3'UTR NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 222 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 CCCAGAGTATCATATTTAGAA 0.368000 13 31 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278501 114278501 + Silent SNP C C A rs144821187 byFrequency TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:114278501C>A ENST00000357077.4 + 38 8780 c.8727C>A c.(8725-8727)ccC>ccA p.P2909P ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P2876P|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2876 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.P2909P(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGATGTTCCCGTGTCTGACC 0.393000 6 148 0.00116845 0.00127062 1 1 0 SPIRE1 56907 broad.mit.edu 37 18 12512522 12512522 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:12512522C>T ENST00000409402.4 - 5 1005 c.738G>A c.(736-738)aaG>aaA p.K246K SPIRE1_ENST00000453447.2_Silent_p.K126K|SPIRE1_ENST00000309836.5_Silent_p.K49K|SPIRE1_ENST00000410092.3_Silent_p.K246K|SPIRE1_ENST00000383356.2_Silent_p.K87K NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 246 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 CTTGAATCTTCTTAAGATTCT 0.328000 12 41 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 985542 985542 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:985542G>A ENST00000448903.2 + 8 1063 c.922G>A c.(922-924)Gtg>Atg p.V308M AP2A2_ENST00000332231.5_Missense_Mutation_p.V309M|AP2A2_ENST00000534328.1_Missense_Mutation_p.V308M NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 308 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) GAAGAATGCCGTGCTCTTCGA 0.572000 4 33 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667174 100667174 + Silent SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:100667174C>A ENST00000375119.3 - 5 1243 c.1167G>T c.(1165-1167)cgG>cgT p.R389R NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 389 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) GGCAAAGCTTCCGGCGGTACA 0.517000 17 34 2.35188e-11 2.89508e-11 1 1 0 ENKD1 84080 broad.mit.edu 37 16 67697120 67697120 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:67697120C>G ENST00000243878.4 - 7 1306 c.985G>C c.(985-987)Gag>Cag p.E329Q ENKD1_ENST00000602644.1_3'UTR NM_032140.1 NP_115516.1 enkurin domain containing 1 ATGGCCTCCTCTACCTGCACC 0.607000 12 63 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716359 50716359 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:50716359G>C ENST00000449103.1 - 32 5111 c.4971C>G c.(4969-4971)ttC>ttG p.F1657L PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1657L O15031 PLXB2_HUMAN plexin B2 1657 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) GGAAGTCGAAGAAGTACTTGA 0.602000 4 48 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60578917 60578917 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:60578917C>T ENST00000252996.4 - 8 2240 c.2241G>A c.(2239-2241)ccG>ccA p.P747P NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCCTGGCTTCGGAGGCTGCT 0.652000 10 16 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144033176 144033176 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:144033176A>G ENST00000427704.2 + 2 167 c.37A>G c.(37-39)Ata>Gta p.I13V PHACTR2_ENST00000367584.4_Missense_Mutation_p.I81V|PHACTR2_ENST00000367582.3_Missense_Mutation_p.I24V|PHACTR2_ENST00000305766.6_Missense_Mutation_p.I13V|PHACTR2_ENST00000440869.2_Missense_Mutation_p.I24V|PHACTR2_ENST00000397980.3_Missense_Mutation_p.I24V NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 13 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CAAAGCTTCTATAGCAAACTC 0.408000 70 83 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145010082 145010082 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:145010082C>T ENST00000322810.4 - 6 1116 c.947G>A c.(946-948)cGa>cAa p.R316Q PLEC_ENST00000354589.3_Missense_Mutation_p.R179Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R165Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R206Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R157Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R183Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R147Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R206Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R179Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 316 Actin-binding.|CH 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTTGTCGCATCGCAGGCCCTG 0.627000 4 54 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116436174 116436174 + Nonsense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:116436174C>G ENST00000397752.3 + 21 4369 c.4169C>G c.(4168-4170)tCa>tGa p.S1390* MET_ENST00000318493.6_Nonsense_Mutation_p.S1408*|MET_ENST00000539704.1_Nonsense_Mutation_p.S260* NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1390 Interaction with RANBP9. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGGGAGACATCATAGTGCTAG 0.453000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 38 85 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51242073 51242073 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:51242073C>T ENST00000261842.5 + 12 1473 c.1367C>T c.(1366-1368)tCa>tTa p.S456L AP4E1_ENST00000560508.1_Missense_Mutation_p.S381L NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 456 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GCTGTGTTTTCAGTAGGAGGA 0.348000 19 48 0 0 1 0 0 PDLIM2 64236 broad.mit.edu 37 8 22438123 22438123 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:22438123G>A ENST00000265810.4 + 1 121 c.6G>A c.(4-6)gcG>gcA p.A2A PDLIM2_ENST00000308354.7_Silent_p.A252A|PDLIM2_ENST00000397760.4_Silent_p.A2A|PDLIM2_ENST00000409141.1_Silent_p.A2A|PDLIM2_ENST00000409417.1_Silent_p.A2A|PDLIM2_ENST00000339162.7_Silent_p.A2A|PDLIM2_ENST00000397761.2_Silent_p.A2A NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 2 PDZ. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CAGGTATGGCGTTGACGGTGG 0.617000 6 24 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901432 13901432 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:13901432G>A ENST00000265104.4 - 14 2085 c.1981C>T c.(1981-1983)Cgc>Tgc p.R661C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 661 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R661C(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGTAACTGCGAATTATAGGT 0.532000 Kartagener syndrome 10 38 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604530 31604530 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:31604530C>G ENST00000376033.2 + 28 6189 c.5955C>G c.(5953-5955)gaC>gaG p.D1985E PRRC2A_ENST00000376007.4_Missense_Mutation_p.D1985E NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1985 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCATGGTAGACTCACAGCTGC 0.562000 96 123 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52906030 52906030 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:52906030T>C ENST00000356971.3 - 3 494 c.5A>G c.(4-6)aAt>aGt p.N2S ICK_ENST00000350082.5_Missense_Mutation_p.N2S NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 2 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TGTGTATCTATTCATGGTGTG 0.517000 13 62 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94419818 94419818 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:94419818C>G ENST00000555019.1 - 5 944 c.514G>C c.(514-516)Gag>Cag p.E172Q ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.E124Q NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 124 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCTGTTTCCTCCTGCAGGGTG 0.597000 6 23 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174227 51174227 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:51174227T>C ENST00000440970.1 - 2 2046 c.1615A>G c.(1615-1617)Acg>Gcg p.T539A SALL1_ENST00000251020.4_Missense_Mutation_p.T636A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 636 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTGCTCGCCGTCGGGACTGAG 0.632000 5 37 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135012623 135012623 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:135012623G>A ENST00000304613.3 + 14 2632 c.2611G>A c.(2611-2613)Gac>Aac p.D871N KNDC1_ENST00000368571.2_Missense_Mutation_p.D806N|KNDC1_ENST00000368572.2_Missense_Mutation_p.D871N Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 871 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.D871N(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCGGCCCGCAGACCGGAGGCT 0.721000 3 6 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12215717 12215717 + Splice_Site SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:12215717C>T ENST00000491614.1 - 6 780 c.385G>A c.(385-387)Gcg>Acg p.A129T NUDT5_ENST00000378940.3_Splice_Site_p.A129T|NUDT5_ENST00000537776.1_Splice_Site_p.A129T|NUDT5_ENST00000378927.3_Splice_Site_p.A129T|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Splice_Site_p.A142T Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 129 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) CAATACCAACCTGGAGAACAT 0.463000 37 123 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410592 103410592 + Silent SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:103410592C>A ENST00000361246.2 - 30 4332 c.4044G>T c.(4042-4044)gtG>gtT p.V1348V NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1348 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.V1348V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCAGCCGTTTCACGGCCACAA 0.557000 9 55 2.17888e-05 2.50416e-05 1 1 0 MIR513A2 574510 broad.mit.edu 37 X 146307349 146307349 + RNA SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:146307349C>A ENST00000385249.1 - 0 121 NR_030232.1 CTcagggacaccacatatgca 0.473000 3 47 0.00909568 0.00967413 1 1 0 ZNF852 285346 broad.mit.edu 37 3 44540951 44540951 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:44540951C>G ENST00000436261.1 - 4 1478 c.1318G>C c.(1318-1320)Gaa>Caa p.E440Q B6EU87 B6EU87_HUMAN zinc finger protein 852 440 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 TCATTACATTCATAGGGTTTC 0.378000 4 41 0 0 1 0 0 IGHV1-8 28472 broad.mit.edu 37 14 106539261 106539261 + RNA SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:106539261G>T ENST00000390599.2 - 0 230 GTGGCCTGTCGCACCCAGTTG 0.547000 11 87 0.0692343 0.0711412 1 1 0 PUS7 54517 broad.mit.edu 37 7 105148620 105148620 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:105148620C>T ENST00000356362.2 - 2 554 c.340G>A c.(340-342)Gta>Ata p.V114I PUS7_ENST00000469408.1_Missense_Mutation_p.V114I NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 114 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 GTGATGCCTACGTCAGCCTCA 0.418000 24 60 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46307650 46307650 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:46307650G>C ENST00000510861.1 - 7 811 c.638C>G c.(637-639)tCt>tGt p.S213C GABRA2_ENST00000514090.1_Missense_Mutation_p.S213C|GABRA2_ENST00000540012.1_Missense_Mutation_p.S158C|GABRA2_ENST00000507069.1_Missense_Mutation_p.S213C|GABRA2_ENST00000515082.1_Missense_Mutation_p.S213C|GABRA2_ENST00000381620.4_Missense_Mutation_p.S213C|GABRA2_ENST00000356504.1_Missense_Mutation_p.S213C P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 213 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTAACCTAGAGCCATCAGG 0.368000 21 87 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.470A>G c.(469-471)cAt>cGt p.H157R AGAP10_ENST00000452145.2_Splice_Site_p.H132R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 58 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67838308 67838308 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:67838308G>A ENST00000265689.4 - 5 673 c.647C>T c.(646-648)aCt>aTt p.T216I CHKA_ENST00000356135.5_Missense_Mutation_p.T198I NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 216 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TAATTCTTCAGTATCTAATCG 0.368000 53 67 0 0 1 0 0 NXPH4 11247 broad.mit.edu 37 12 57619092 57619092 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:57619092C>T ENST00000349394.5 + 2 664 c.489C>T c.(487-489)ttC>ttT p.F163F NXPH4_ENST00000555154.1_3'UTR NM_007224.3 NP_009155.1 O95158 NXPH4_HUMAN neurexophilin 4 163 III. neuropeptide signaling pathway extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 10 GTGTCGAGTTCGGAGGAGTCT 0.657000 4 131 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156721803 156721803 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:156721803G>T ENST00000347377.6 + 4 650 c.219G>T c.(217-219)ctG>ctT p.L73L CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Silent_p.L73L|CYFIP2_ENST00000318218.6_Silent_p.L73L NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 73 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGAGATGCTGGAGGAAGGAC 0.542000 4 25 0.000602214 0.000665317 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166206 140166206 + Missense_Mutation SNP G G A rs148838866 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140166206G>A ENST00000504120.2 + 1 331 c.331G>A c.(331-333)Gac>Aac p.D111N PCDHA1_ENST00000394633.3_Missense_Mutation_p.D111N|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D111N NM_018900.2 NP_061723.1 p.D111N(2) 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) GTTGATCGCCGACAGGCCGCT 0.498000 33 29 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7268039 7268039 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:7268039C>A ENST00000217961.4 + 10 1709 c.1489C>A c.(1489-1491)Cac>Aac p.H497N NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 497 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TGTCACCCATCACGACCCACC 0.493000 Ichthyosis 3 36 0.004672 0.00502421 1 1 0 RBBP8 5932 broad.mit.edu 37 18 20573318 20573318 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:20573318G>A ENST00000399722.2 + 11 1879 c.1528G>A c.(1528-1530)Gag>Aag p.E510K RBBP8_ENST00000360790.5_Missense_Mutation_p.E510K|RBBP8_ENST00000327155.5_Missense_Mutation_p.E510K|RBBP8_ENST00000399725.2_Missense_Mutation_p.E510K NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 510 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CCAAGGAAGTGAGACTTCTAA 0.423000 Homologous recombination 7 76 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14552782 14552782 + RNA SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:14552782G>T ENST00000273083.3 - 0 1888 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 TATTGTCAATGGCCAGTAGCT 0.622000 8 35 1.12685e-05 1.29815e-05 1 1 0 IGHG1 3500 broad.mit.edu 37 14 106204005 106204005 + RNA SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:106204005G>A ENST00000390548.2 - 0 1293 GGGCGGTGAGGTCGGGGGCAG 0.682000 7 6 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85989563 85989563 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:85989563G>C ENST00000263360.6 + 12 2008 c.1322G>C c.(1321-1323)cGa>cCa p.R441P EED_ENST00000351625.6_Missense_Mutation_p.R466P|EED_ENST00000327320.4_3'UTR|EED_ENST00000527888.1_Missense_Mutation_p.R106P|EED_ENST00000528180.1_Missense_Mutation_p.R361P NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 441 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GATCGACTTCGATAAAATACT 0.383000 12 45 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102709406 102709406 + Silent SNP G G T rs142121549 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:102709406G>T ENST00000299855.5 - 8 1361 c.1105C>A c.(1105-1107)Cga>Aga p.R369R NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 369 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TATCCAGCTCGTACCTCATTT 0.383000 4 46 0.150653 0.15286 1 1 0 COG1 9382 broad.mit.edu 37 17 71192745 71192745 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:71192745C>G ENST00000299886.4 + 2 495 c.415C>G c.(415-417)Cag>Gag p.Q139E NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 139 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GGAAGCCTCTCAGTGTCTCCA 0.567000 18 105 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 141870482 141870482 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:141870482C>G ENST00000515673.2 - 3 813 c.780G>C c.(778-780)caG>caC p.Q260H RNF150_ENST00000420921.2_Missense_Mutation_p.Q119H|RNF150_ENST00000379512.2_Missense_Mutation_p.Q119H|RNF150_ENST00000306799.3_Missense_Mutation_p.Q218H|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.Q260H Q9ULK6 RN150_HUMAN ring finger protein 150 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TGGTCCTGATCTGGAGTTTGC 0.423000 4 127 0 0 1 0 0 AK3 50808 broad.mit.edu 37 9 4722582 4722582 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:4722582G>A ENST00000381809.3 - 2 425 c.195C>T c.(193-195)ctC>ctT p.L65L AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_5'UTR NM_016282.3 NP_057366.2 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 65 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity large_intestine(2)|lung(1)|ovary(2) 5 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) CATCTGGGATGAGTTTCCCTT 0.458000 3 34 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69782871 69782871 + Missense_Mutation SNP C C G rs140707395 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:69782871C>G ENST00000268802.5 - 6 705 c.676G>C c.(676-678)Gtc>Ctc p.V226L NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 226 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCCTCGGGGACGTCACACTGC 0.607000 4 16 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140611419 140611419 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:140611419C>G ENST00000460843.1 + 3 454 c.427C>G c.(427-429)Ctg>Gtg p.L143V EHMT1_ENST00000334856.6_Missense_Mutation_p.L112V|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.L143V NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 143 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) TACCAGCACTCTGGCCTCTTC 0.597000 4 68 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7354881 7354881 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:7354881G>T ENST00000266564.3 + 7 704 c.687G>T c.(685-687)ctG>ctT p.L229L PEX5_ENST00000266563.5_Intron|PEX5_ENST00000412720.2_Silent_p.L250L|PEX5_ENST00000434354.2_Silent_p.L244L|PEX5_ENST00000455147.2_Silent_p.L229L|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Silent_p.L229L NM_000319.4 NP_000310.2 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 229 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 AGGTGTCCCTGGAGTCCGGTG 0.577000 8 37 0.0477658 0.0495008 1 1 0 MYH3 4621 broad.mit.edu 37 17 10545813 10545813 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:10545813G>A ENST00000583535.1 - 16 1896 c.1809C>T c.(1807-1809)aaC>aaT p.N603N MYH3_ENST00000226209.7_Silent_p.N603N NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 603 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCACAGTCTCGTTCAGAGGGT 0.562000 29 31 0 0 1 0 0 SMPD2 6610 broad.mit.edu 37 6 109765033 109765033 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:109765033C>T ENST00000258052.3 + 10 1556 c.1197C>T c.(1195-1197)gcC>gcT p.A399A NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 399 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CAAGGGAGGCCCAGGATCTGG 0.582000 13 42 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72344821 72344821 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:72344821C>A ENST00000299687.5 + 1 1846 c.1846C>A c.(1846-1848)Ctt>Att p.L616I ZNF407_ENST00000577538.1_Missense_Mutation_p.L616I|ZNF407_ENST00000582337.1_Missense_Mutation_p.L616I|ZNF407_ENST00000309902.6_Missense_Mutation_p.L616I NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L616V(2) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TATGCATTTTCTTTGCACCCC 0.368000 32 61 8.16721e-17 1.02619e-16 1 1 0 MAPKAPK3 7867 broad.mit.edu 37 3 50677925 50677925 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:50677925C>T ENST00000446044.1 + 5 944 c.348C>T c.(346-348)atC>atT p.I116I MAPKAPK3_ENST00000357955.2_Silent_p.I116I NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 116 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GTCTCCTCATCATCATGGAAT 0.572000 31 144 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53373430 53373430 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:53373430G>A ENST00000229416.6 - 8 1391 c.908C>T c.(907-909)tCt>tTt p.S303F NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 303 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) ATCATCTACAGATGCAGAAAT 0.433000 59 73 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53854332 53854332 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:53854332C>A ENST00000458035.1 + 4 521 c.404C>A c.(403-405)cCt>cAt p.P135H ZNF845_ENST00000595091.1_Missense_Mutation_p.P135H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GGAAACAAGCCTATTAAAGAT 0.413000 54 242 6.3091e-27 8.13807e-27 1 1 0 CAMLG 819 broad.mit.edu 37 5 134074346 134074346 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:134074346G>C ENST00000297156.2 + 1 156 c.36G>C c.(34-36)gaG>gaC p.E12D CAMLG_ENST00000514518.1_Missense_Mutation_p.E12D NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 12 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) ACGGCGGGGAGAGGCCGGGGG 0.687000 7 6 0 0 1 0 0 CEMP1 752014 broad.mit.edu 37 16 2580867 2580867 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:2580867G>T ENST00000382350.1 - 1 553 c.208C>A c.(208-210)Cac>Aac p.H70N AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.H70N|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron Q6PRD7 CEMP1_HUMAN cementum protein 1 70 cytoplasm lung(1)|skin(1) 2 TGAGAGGTGTGAGGTGCAGGG 0.657000 6 32 3.59834e-05 4.10634e-05 1 1 0 SLC7A5 8140 broad.mit.edu 37 16 87902738 87902738 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:87902738G>A ENST00000261622.4 - 1 356 c.291C>T c.(289-291)atC>atT p.I97I NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 97 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) GCGCGCCCACGATGGAGAAGA 0.701000 27 21 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5269364 5269364 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:5269364G>C ENST00000288828.4 + 12 1479 c.1247G>C c.(1246-1248)aGa>aCa p.R416T WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000484262.1_Intron|WIPI2_ENST00000401525.3_Missense_Mutation_p.R398T|WIPI2_ENST00000404704.3_Intron NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 416 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TCCCCAACGAGACTTGGTAAG 0.577000 3 11 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72722561 72722561 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:72722561T>C ENST00000272427.6 - 15 1681 c.1551A>G c.(1549-1551)ctA>ctG p.L517L EXOC6B_ENST00000410104.1_Silent_p.L517L NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 517 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TATTATACCTTAGATGAAGAT 0.318000 4 10 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287676 16287676 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:16287676G>A ENST00000343518.6 - 1 261 c.210C>T c.(208-210)ccC>ccT p.P70P NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 70 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CCCTGCACCAGGGGAAGCAGT 0.587000 129 468 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85600134 85600134 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:85600134C>A ENST00000322366.6 - 64 10441 c.10034G>T c.(10033-10035)gGc>gTc p.G3345V WDFY3_ENST00000295888.4_Missense_Mutation_p.G3362V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3362 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTAAGGGGGCCCTGCAGATG 0.512000 14 56 1.05317e-09 1.28339e-09 1 1 0 SIRT7 51547 broad.mit.edu 37 17 79872379 79872379 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:79872379C>T ENST00000328666.6 - 7 669 c.607G>A c.(607-609)Gag>Aag p.E203K NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 203 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGCACGTACTCCCTGTTGGGA 0.642000 14 52 0 0 1 0 0 MIR621 693206 broad.mit.edu 37 13 41384975 41384975 + RNA SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:41384975G>A ENST00000384919.1 + 0 74 NR_030352.1 TAGCAACAGCGCTTACCTTTT 0.547000 4 52 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49130977 49130977 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:49130977G>T ENST00000443164.1 + 2 1431 c.726G>T c.(724-726)ccG>ccT p.P242P SPHK2_ENST00000599748.1_Silent_p.P144P|SPHK2_ENST00000598088.1_Silent_p.P180P|SPHK2_ENST00000599029.1_Silent_p.P144P|SPHK2_ENST00000340932.3_Silent_p.P144P|SPHK2_ENST00000601712.1_Silent_p.P144P|SPHK2_ENST00000600537.1_Silent_p.P121P|SPHK2_ENST00000245222.4_Silent_p.P180P Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 180 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TACCTCGGCCGCCCCGGTTGC 0.602000 4 175 0.150653 0.15286 1 1 0 OR8G5 219865 broad.mit.edu 37 11 124135564 124135564 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:124135564C>T ENST00000524943.2 + 1 842 c.842C>T c.(841-843)tCg>tTg p.S281L OR8G1_ENST00000341493.2_RNA NM_001005198.1 NP_001005198.1 olfactory receptor, family 8, subfamily G, member 5 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523) TCCCACATCTCGGCTGTTTCT 0.507000 27 96 0 0 1 0 0 FBXL19 54620 broad.mit.edu 37 16 30941554 30941554 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:30941554C>T ENST00000338343.4 + 7 1337 c.950C>T c.(949-951)tCg>tTg p.S317L FBXL19_ENST00000562319.1_Missense_Mutation_p.S317L|FBXL19_ENST00000380310.2_Missense_Mutation_p.S337L|FBXL19_ENST00000565690.1_Missense_Mutation_p.S201L|FBXL19_ENST00000471231.2_Missense_Mutation_p.S25L Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 337 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TCCGACTCTTCGGGCACATCG 0.667000 12 49 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71021828 71021828 + Splice_Site SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:71021828C>G ENST00000318789.4 - 18 2056 c.e18-1 FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCACTGCATTCTGCAGCAAGT 0.368000 T PAX5 ALL 7 60 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174230 51174230 + Missense_Mutation SNP G G T rs61731136 byFrequency TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:51174230G>T ENST00000440970.1 - 2 2043 c.1612C>A c.(1612-1614)Ccg>Acg p.P538T SALL1_ENST00000251020.4_Missense_Mutation_p.P635T|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 635 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTCGCCGTCGGGACTGAGTTG 0.632000 6 36 4.3838e-07 5.1731e-07 1 1 0 RAD54L2 23132 broad.mit.edu 37 3 51669661 51669661 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:51669661G>T ENST00000409535.2 + 9 1320 c.1195G>T c.(1195-1197)Gtg>Ttg p.V399L RAD54L2_ENST00000296477.3_Missense_Mutation_p.V93L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) Helicase ATP-binding. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AGAGGGTGGCGTGCTGCTGAT 0.468000 9 46 0.0477658 0.0495008 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72346054 72346054 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:72346054C>T ENST00000299687.5 + 1 3079 c.3079C>T c.(3079-3081)Cac>Tac p.H1027Y ZNF407_ENST00000577538.1_Missense_Mutation_p.H1027Y|ZNF407_ENST00000582337.1_Missense_Mutation_p.H1027Y|ZNF407_ENST00000309902.6_Missense_Mutation_p.H1027Y NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1027 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GTTTAGTGCTCACTCCTCTGC 0.488000 32 64 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97246729 97246729 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:97246729G>A ENST00000229955.3 - 2 1224 c.879C>T c.(877-879)ctC>ctT p.L293L GPR63_ENST00000417980.1_Silent_p.L293L NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 293 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GCAGACTCATGAGACCCAGTT 0.473000 17 45 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108290593 108290593 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:108290593C>T ENST00000281092.4 + 12 1877 c.1493C>T c.(1492-1494)tCt>tTt p.S498F FER_ENST00000438717.2_Missense_Mutation_p.S323F|FER_ENST00000536402.1_Intron NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 498 SH2. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TCTGTATATTCTGATGGACAG 0.348000 15 35 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16612137 16612137 + Silent SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:16612137A>G ENST00000221671.3 + 2 690 c.534A>G c.(532-534)caA>caG p.Q178Q C19orf44_ENST00000594035.1_Silent_p.Q178Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 178 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 AGAAGAAACAAGCACCTGTTG 0.448000 40 21 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25449362 25449362 + RNA SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:25449362G>C ENST00000424208.1 + 0 2254 SNHG14_ENST00000424333.1_RNA NR_003305.1 CTGGCCCCACGTCAGTGTTCG 0.612000 10 20 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11904279 11904279 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:11904279G>A ENST00000405977.1 + 5 2159 c.1534G>A c.(1534-1536)Gga>Aga p.G512R BTBD3_ENST00000378226.2_Missense_Mutation_p.G512R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G451R|BTBD3_ENST00000399006.2_Missense_Mutation_p.G451R NM_001282550.1|NM_001282552.1|NM_001282554.1 NP_001269479.1|NP_001269481.1|NP_001269483.1 Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 512 p.G512R(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 TGGGGTACAGGGAGGGCAGAT 0.483000 31 46 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604676 62604676 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:62604676C>T ENST00000281156.4 - 6 952 c.674G>A c.(673-675)gGa>gAa p.G225E NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 225 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TACAGTGCTTCCCCGAGGGGT 0.607000 6 15 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149220179 149220179 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:149220179G>C ENST00000407073.1 + 7 1139 c.142G>C c.(142-144)Gag>Cag p.E48Q MBD5_ENST00000404807.1_Missense_Mutation_p.E48Q NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 48 MBD. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATCTTGCTTGGAGCAGGTTAA 0.348000 3 82 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26895343 26895343 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:26895343G>C ENST00000407690.1 - 9 1339 c.1056C>G c.(1054-1056)ctC>ctG p.L352L TFIP11_ENST00000407148.1_Silent_p.L352L|TFIP11_ENST00000405938.1_Silent_p.L352L|TFIP11_ENST00000407431.1_Silent_p.L352L NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 352 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GCTCGTGGAAGAGGTTGACCA 0.597000 20 84 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103007950 103007950 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:103007950G>C ENST00000435765.1 + 11 1346 c.935G>C c.(934-936)aGa>aCa p.R312T SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.R175T|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.R312T|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 312 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TTTGATCCTAGAGGCAATATT 0.438000 13 42 0 0 1 0 0 RNF166 115992 broad.mit.edu 37 16 88767739 88767739 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:88767739C>T ENST00000312838.4 - 2 338 c.243G>A c.(241-243)gtG>gtA p.V81V RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000567844.1_Intron NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 81 intracellular zinc ion binding endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) TGGCCTTGTCCACCTTCTTGG 0.657000 8 46 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67401082 67401082 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:67401082C>T ENST00000329956.6 + 8 936 c.917C>T c.(916-918)tCa>tTa p.S306L LRRC36_ENST00000563189.1_Missense_Mutation_p.S185L|LRRC36_ENST00000290940.7_Missense_Mutation_p.S38L|LRRC36_ENST00000435835.3_Missense_Mutation_p.S185L|LRRC36_ENST00000541146.1_Intron NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 306 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CATGATGCCTCATTGAGTAAA 0.393000 6 117 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66323656 66323656 + RNA SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:66323656G>A ENST00000502692.1 + 0 1004 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AGGCCATCATGACCTATGTGT 0.607000 21 108 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093331 143093331 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:143093331C>G ENST00000367603.2 - 5 3287 c.2545G>C c.(2545-2547)Gag>Cag p.E849Q HIVEP2_ENST00000367604.1_Missense_Mutation_p.E849Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E849Q NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 849 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGAGCCCACTCAGGACTCACT 0.562000 14 45 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5269255 5269255 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:5269255G>C ENST00000288828.4 + 12 1370 c.1138G>C c.(1138-1140)Gaa>Caa p.E380Q WIPI2_ENST00000382384.2_Missense_Mutation_p.E362Q|WIPI2_ENST00000484262.1_Missense_Mutation_p.E321Q|WIPI2_ENST00000401525.3_Missense_Mutation_p.E362Q|WIPI2_ENST00000404704.3_Missense_Mutation_p.E380Q NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 380 E -> K (in Ref. 2; AAD34045). autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CGGCAGTCTGGAAACGACCAA 0.587000 4 7 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98664545 98664545 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:98664545G>C ENST00000261574.5 + 21 2335 c.2155G>C c.(2155-2157)Gaa>Caa p.E719Q IPO5_ENST00000490680.1_Missense_Mutation_p.E701Q|IPO5_ENST00000539640.1_Missense_Mutation_p.E576Q NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 701 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GGAGTACACCGAACAGGTTGT 0.358000 3 73 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115252309 115252309 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:115252309T>C ENST00000369535.4 - 4 584 c.331A>G c.(331-333)Atg>Gtg p.M111V NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 111 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTAGCACCATAGGTACATCA 0.418000 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 27 23 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581588 140581588 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140581588G>C ENST00000354757.3 + 1 2241 c.2241G>C c.(2239-2241)caG>caC p.Q747H PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q382H NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 747 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTTTCCCAGAGCTACCAGT 0.582000 18 69 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83440883 83440883 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:83440883C>G ENST00000334574.8 - 7 1390 c.1209G>C c.(1207-1209)gaG>gaC p.E403D FSD2_ENST00000541889.1_Missense_Mutation_p.E403D A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 403 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GCTGATAGCTCTCCACAGTGT 0.572000 9 22 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143095356 143095356 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:143095356C>T ENST00000367603.2 - 5 1262 c.520G>A c.(520-522)Gaa>Aaa p.E174K HIVEP2_ENST00000367604.1_Missense_Mutation_p.E174K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E174K NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGAGCCTCTTCTGCCTGTTCA 0.433000 38 145 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83926593 83926593 + Silent SNP C C A rs142800358 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:83926593C>A ENST00000345382.2 - 5 2671 c.2586G>T c.(2584-2586)tcG>tcT p.S862S BNC1_ENST00000569704.1_Silent_p.S855S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 862 Ser-rich. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ACTTCATGCTCGAGGTAGTGC 0.547000 5 57 4.096e-09 4.9664e-09 1 1 0 ANK2 287 broad.mit.edu 37 4 114278500 114278500 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:114278500C>A ENST00000357077.4 + 38 8779 c.8726C>A c.(8725-8727)cCc>cAc p.P2909H ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2876H|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2876 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGGATGTTCCCGTGTCTGAC 0.398000 6 148 0.00116845 0.00127062 1 1 0 UGT3A2 167127 broad.mit.edu 37 5 36035883 36035883 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:36035883G>T ENST00000282507.3 - 7 1590 c.1489C>A c.(1489-1491)Ctg>Atg p.L497M UGT3A2_ENST00000545528.1_Missense_Mutation_p.L195M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L463M NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 497 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAGTCCCCAGAGTGAGCCCC 0.597000 28 17 1.33986e-20 1.7146e-20 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76555101 76555101 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:76555101C>A ENST00000307431.8 + 17 2812 c.2427C>A c.(2425-2427)caC>caA p.H809Q CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H737Q|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H761Q|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H813Q|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 810 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTACCTTCCACGGAGAACTTA 0.363000 7 172 8.12818e-05 9.16784e-05 1 1 0 WDR93 56964 broad.mit.edu 37 15 90245194 90245194 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:90245194G>A ENST00000268130.7 + 2 318 c.217G>A c.(217-219)Gaa>Aaa p.E73K WDR93_ENST00000558000.1_Missense_Mutation_p.E73K|WDR93_ENST00000560294.1_Missense_Mutation_p.E73K NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 73 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CCAGTCTTGGGAAATTATTGA 0.502000 4 21 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55591149 55591149 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:55591149G>C ENST00000201647.6 + 5 265 c.209G>C c.(208-210)cGa>cCa p.R70P EPS8L1_ENST00000540810.1_Missense_Mutation_p.R6P|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R52P NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 70 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGCCAGGGCCGAGTCTGGGCA 0.657000 10 34 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118949691 118949691 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:118949691C>T ENST00000300793.6 + 14 2289 c.2247C>T c.(2245-2247)ctC>ctT p.L749L VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 750 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) ACAAGAACCTCATGCCACCTC 0.562000 21 65 0 0 1 0 0 MIR1275 100302123 broad.mit.edu 37 6 33967754 33967754 + RNA SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:33967754C>G ENST00000408770.1 - 0 74 NR_031681.1 TGAGTTCCCTCTGCCTTGGGG 0.507000 8 32 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146030241 146030241 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:146030241C>G ENST00000394413.3 - 5 1064 c.494G>C c.(493-495)cGa>cCa p.R165P PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R223P|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R165P|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R154P|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R231P|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R168P|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R171P|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R165P|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R165P|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R154P Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 165 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAATACTCTTCGTGGGGTGGC 0.473000 4 32 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43332457 43332457 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:43332457C>T ENST00000380486.3 - 7 1178 c.937G>A c.(937-939)Gaa>Aaa p.E313K C2CD2_ENST00000329623.7_Missense_Mutation_p.E158K NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 313 C2. cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 AATTCCTCTTCCCACATGAGG 0.537000 4 31 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17962583 17962583 + RNA SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:17962583C>A ENST00000458468.1 + 0 579 MIR125B2_ENST00000385128.1_RNA NR_027790.1 TCCCTGAGACCCTAACTTGTG 0.433000 10 81 0.010729 0.0113615 1 1 0 TRERF1 55809 broad.mit.edu 37 6 42236621 42236621 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:42236621G>A ENST00000541110.1 - 5 1276 c.708C>T c.(706-708)taC>taT p.Y236Y TRERF1_ENST00000340840.2_Silent_p.Y236Y|TRERF1_ENST00000354325.2_Silent_p.Y236Y|TRERF1_ENST00000372922.4_Silent_p.Y236Y|TRERF1_ENST00000372917.4_Silent_p.Y236Y Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 236 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGGCTGCTGGTAGTCATAAT 0.597000 26 51 0 0 1 0 0 C1orf131 128061 broad.mit.edu 37 1 231360132 231360132 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:231360132T>C ENST00000366651.3 - 7 808 c.772A>G c.(772-774)Att>Gtt p.I258V C1orf131_ENST00000318906.2_3'UTR|C1orf131_ENST00000366649.2_Missense_Mutation_p.I259V NM_152379.2 NP_689592.2 Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 260 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTGACAAAATACTGGGAGCG 0.383000 13 34 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112618 248112618 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:248112618C>G ENST00000357191.3 + 1 459 c.459C>G c.(457-459)atC>atG p.I153M OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TAGGCTCGATCAATGCTTGTG 0.448000 23 168 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42037314 42037314 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:42037314A>G ENST00000264451.7 + 7 813 c.633A>G c.(631-633)atA>atG p.I211M NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ACCAAAAAATATTAAGAGAAT 0.303000 27 72 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14552783 14552783 + RNA SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:14552783G>C ENST00000273083.3 - 0 1887 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 ATTGTCAATGGCCAGTAGCTT 0.617000 6 36 0 0 1 0 0 MYLIP 29116 broad.mit.edu 37 6 16141917 16141917 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:16141917G>C ENST00000356840.3 + 3 538 c.340G>C c.(340-342)Gag>Cag p.E114Q MYLIP_ENST00000349606.4_5'UTR NM_013262.3 NP_037394.2 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 114 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GTGTTCCCCAGAGCAGGCAGT 0.522000 12 35 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130892335 130892335 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:130892335G>C ENST00000261655.4 - 16 3024 c.2861C>G c.(2860-2862)aCg>aGg p.T954R NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 954 SH3 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CATTCTCCGCGTCGATACCGA 0.512000 17 188 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602933 37602933 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:37602933G>A ENST00000399151.3 + 14 1936 c.1851G>A c.(1849-1851)tgG>tgA p.W617* NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 617 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACGACGTTTGGAAGAAGGGCG 0.537000 16 76 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27518477 27518477 + Splice_Site SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:27518477C>A ENST00000356183.4 - 9 1258 c.1243G>T c.(1243-1245)Gga>Tga p.G415* GTF3C1_ENST00000561623.1_Splice_Site_p.G415* NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 415 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCCATGAATCCCTAGAGGGAA 0.507000 11 95 0.010729 0.0113615 1 1 0 UNC13A 23025 broad.mit.edu 37 19 17752225 17752225 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:17752225G>A ENST00000428389.2 - 22 2876 c.2877C>T c.(2875-2877)gtC>gtT p.V959V UNC13A_ENST00000252773.7_Silent_p.V871V|UNC13A_ENST00000551649.1_Silent_p.V871V|UNC13A_ENST00000550896.1_Silent_p.V869V|UNC13A_ENST00000552293.1_Silent_p.V871V|UNC13A_ENST00000519716.2_Silent_p.V871V Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 871 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AGATGGACTCGACGCCGTAGC 0.582000 19 10 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25540227 25540227 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:25540227G>T ENST00000329474.6 + 26 2617 c.2249G>T c.(2248-2250)gGc>gTc p.G750V NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 750 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GGAGCCAGTGGCTTACTATCC 0.393000 5 30 0.000157383 0.000176284 1 1 0 HIVEP2 3097 broad.mit.edu 37 6 143095264 143095264 + Silent SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:143095264C>G ENST00000367603.2 - 5 1354 c.612G>C c.(610-612)ctG>ctC p.L204L HIVEP2_ENST00000367604.1_Silent_p.L204L|HIVEP2_ENST00000012134.2_Silent_p.L204L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGTGTTTTTTCAGTACACTAG 0.463000 25 95 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90356565 90356565 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:90356565G>C ENST00000371939.3 + 8 909 c.595G>C c.(595-597)Gac>Cac p.D199H NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 199 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) AGGCAACAAAGACTTCTTGCC 0.303000 45 134 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98350949 98350949 + Translation_Start_Site SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:98350949C>A ENST00000451498.2 + 0 81 ZAP70_ENST00000264972.5_Intron|ZAP70_ENST00000442208.1_Intron|ZAP70_ENST00000463643.1_Intron NM_207519.1 NP_997402.1 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CACCCCTGCCCCTGACCTGGG 0.652000 6 8 0.00116845 0.00127062 1 1 0 IQGAP1 8826 broad.mit.edu 37 15 91017820 91017820 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:91017820G>T ENST00000268182.5 + 23 2803 c.2679G>T c.(2677-2679)cgG>cgT p.R893R IQGAP1_ENST00000560020.1_3'UTR|IQGAP1_ENST00000560738.1_Silent_p.R321R NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 893 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TGAAGATGCGGGAAGAGGTTA 0.448000 11 41 4.68919e-08 5.60162e-08 1 1 0 AMMECR1L 83607 broad.mit.edu 37 2 128622681 128622681 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:128622681T>C ENST00000272647.5 - 8 1180 c.920A>G c.(919-921)aAt>aGt p.N307S AMMECR1L_ENST00000393001.1_Missense_Mutation_p.N307S NM_001199140.1 NP_001186069.1 Q6DCA0 AMERL_HUMAN AMMECR1-like 307 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) GGAGTAATGATTGTAGAGGGG 0.547000 25 39 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71264211 71264211 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:71264211C>T ENST00000373290.2 + 6 710 c.588C>T c.(586-588)acC>acT p.T196T TSPAN15_ENST00000459981.1_3'UTR NM_012339.3 NP_036471.1 O95858 TSN15_HUMAN tetraspanin 15 196 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 TTGTCAACACCATGTGTGGCT 0.408000 19 77 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827575 72827575 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:72827575C>G ENST00000268489.5 - 9 9678 c.9006G>C c.(9004-9006)aaG>aaC p.K3002N ZFHX3_ENST00000397992.5_Missense_Mutation_p.K2088N NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3002 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTTGGACTTCTTTTCTTTTG 0.483000 8 138 0 0 1 0 0 IFNGR1 3459 broad.mit.edu 37 6 137525483 137525483 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:137525483T>C ENST00000367739.4 - 4 653 c.532A>G c.(532-534)Atg>Gtg p.M178V IFNGR1_ENST00000543628.1_Missense_Mutation_p.M150V|IFNGR1_ENST00000367735.2_Missense_Mutation_p.M168V NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 178 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CTTCCGTTCATTCTCACATAC 0.373000 33 58 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4768304 4768304 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:4768304T>C ENST00000266544.5 + 5 533 c.513T>C c.(511-513)aaT>aaC p.N171N RP11-500M8.7_ENST00000536588.1_3'UTR NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 171 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CACATCTGAATGCGAATATTA 0.368000 16 50 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121583 27121583 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:27121583G>T ENST00000374145.1 + 3 1740 c.1058G>T c.(1057-1059)tGc>tTc p.C353F PIGV_ENST00000449950.2_Missense_Mutation_p.C125F|PIGV_ENST00000078527.4_Missense_Mutation_p.C353F NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 353 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CCTTGGCTCTGCCTTACACTT 0.522000 6 82 0.00116845 0.00127062 1 1 0 PQLC2 54896 broad.mit.edu 37 1 19652799 19652799 + Missense_Mutation SNP T T A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:19652799T>A ENST00000375153.3 + 5 1083 c.443T>A c.(442-444)cTg>cAg p.L148Q PQLC2_ENST00000400548.2_Missense_Mutation_p.L83Q|PQLC2_ENST00000375155.3_Missense_Mutation_p.L148Q NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 148 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCACACCGCTGCTGAGTGCT 0.672000 9 35 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906079 26906079 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:26906079C>T ENST00000231021.4 - 5 972 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 267 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R267Q(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGGGAAATCGAGGAGGGTT 0.428000 4 137 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62478084 62478084 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:62478084G>T ENST00000383710.4 - 20 3114 c.2765C>A c.(2764-2766)gCg>gAg p.A922E CADPS_ENST00000357948.3_Missense_Mutation_p.A892E|CADPS_ENST00000283269.9_Missense_Mutation_p.A932E NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 922 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAACGTCTCCGCATGCTCCAC 0.448000 6 355 2.7689e-08 3.33229e-08 1 1 0 ATG2B 55102 broad.mit.edu 37 14 96771977 96771977 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:96771977C>G ENST00000359933.4 - 31 5575 c.4682G>C c.(4681-4683)gGa>gCa p.G1561A ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1561 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATCCTTTCCTCCATAAAGATG 0.408000 8 56 0 0 1 0 0 PUF60 22827 broad.mit.edu 37 8 144900436 144900436 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:144900436T>C ENST00000526683.1 - 7 1085 c.530A>G c.(529-531)tAt>tGt p.Y177C PUF60_ENST00000349157.6_Missense_Mutation_p.Y160C|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.Y131C|PUF60_ENST00000456095.2_Missense_Mutation_p.Y148C|PUF60_ENST00000453551.2_Missense_Mutation_p.Y134C|PUF60_ENST00000313352.7_Missense_Mutation_p.Y117C NM_001271098.1|NM_078480.2 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 177 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGGACCTCATACTCCACGAA 0.652000 28 20 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445633 32445633 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:32445633C>G ENST00000282587.5 + 14 1274 c.1237C>G c.(1237-1239)Ctc>Gtc p.L413V SLC30A6_ENST00000406369.1_Missense_Mutation_p.L339V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L390V|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L216V|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L453V|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L384V NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 413 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGGTTTTGGTCTCAATCATGG 0.408000 27 90 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21370908 21370908 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:21370908C>A ENST00000400602.2 - 17 2646 c.2611G>T c.(2611-2613)Gga>Tga p.G871* XPO4_ENST00000255305.6_Nonsense_Mutation_p.G871* NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 871 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CTTACCTCTCCAAGATAGCAT 0.313000 4 38 1.024e-07 1.21428e-07 1 1 0 NUP88 4927 broad.mit.edu 37 17 5289549 5289549 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:5289549T>C ENST00000573584.1 - 17 2712 c.2203A>G c.(2203-2205)Atc>Gtc p.I735V NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 735 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity p.I735V(1) endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TGATTGCGGATATCATTGATT 0.358000 73 6 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4327383 4327383 + Splice_Site SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:4327383C>T ENST00000600324.1 - 7 658 c.e7-1 STAP2_ENST00000597593.1_Splice_Site|STAP2_ENST00000594605.1_Splice_Site NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CACGTGCGTCCTGCACCAGGA 0.632000 10 15 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7582914 7582914 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:7582914C>G ENST00000379802.3 + 24 5760 c.5419C>G c.(5419-5421)Cag>Gag p.Q1807E DSP_ENST00000418664.2_Missense_Mutation_p.Q1208E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1807 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCAGTGTACTCAGGTGGTACA 0.403000 5 83 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916957 178916957 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:178916957G>T ENST00000263967.3 + 2 501 c.344G>T c.(343-345)cGa>cTa p.R115L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 115 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R115L(3) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCCTCAATCGAGAAATTGGT 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 30 27 1.38854e-25 1.78632e-25 1 1 0 DPF1 8193 broad.mit.edu 37 19 38713043 38713043 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:38713043G>C ENST00000416611.1 - 3 378 c.255C>G c.(253-255)ctC>ctG p.L85L DPF1_ENST00000420980.2_Silent_p.L111L|DPF1_ENST00000355526.4_Silent_p.L111L|DPF1_ENST00000456296.1_Silent_p.L85L|DPF1_ENST00000412732.1_Silent_p.L29L|DPF1_ENST00000414789.1_Silent_p.L29L Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 111 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCAGGATGTTGAGTCTCCGTT 0.662000 33 131 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77748454 77748454 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:77748454G>C ENST00000407578.2 - 37 5909 c.5643C>G c.(5641-5643)ctC>ctG p.L1881L MYCBP2_ENST00000544440.2_Silent_p.L1843L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L1843L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1843 A -> S (in dbSNP:rs35887505). 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) ACCTATAGTAGAGTATCTGTG 0.433000 15 42 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38168748 38168748 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:38168748G>A ENST00000406386.3 + 23 7332 c.7077G>A c.(7075-7077)atG>atA p.M2359I TRIOBP_ENST00000403663.2_Missense_Mutation_p.M646I NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2359 M -> I (in Ref. 1; AAG44841). actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGGAGTCGATGCGCAACAGCC 0.657000 4 144 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11716154 11716154 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:11716154G>T ENST00000376770.1 + 3 760 c.262G>T c.(262-264)Gaa>Taa p.E88* FBXO44_ENST00000251547.5_Nonsense_Mutation_p.E88*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.E88*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.E88*|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.E88*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.E88* NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 88 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCCGTGCGCTGAAGGTGGGGT 0.567000 4 81 0.000602214 0.000665317 1 1 0 PAICS 10606 broad.mit.edu 37 4 57314685 57314685 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:57314685G>C ENST00000514888.1 + 5 734 c.219G>C c.(217-219)atG>atC p.M73I PAICS_ENST00000512576.1_Missense_Mutation_p.M165I|PAICS_ENST00000264221.2_Missense_Mutation_p.M165I|PAICS_ENST00000399688.3_Missense_Mutation_p.M172I P22234 PUR6_HUMAN phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase 165 SAICAR synthetase. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1) 5 Glioma(25;0.08)|all_neural(26;0.101) L-Aspartic Acid(DB00128) TGGATATCATGAGTCATGCTA 0.413000 4 10 0 0 1 0 0 ICAM2 3384 broad.mit.edu 37 17 62080230 62080230 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:62080230C>T ENST00000412356.1 - 6 1059 c.705G>A c.(703-705)ctG>ctA p.L235L ICAM2_ENST00000449662.2_Silent_p.L235L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Silent_p.L211L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000578379.1_Silent_p.L134L|ICAM2_ENST00000579687.1_Silent_p.L235L|ICAM2_ENST00000579788.1_Silent_p.L235L|ICAM2_ENST00000418105.1_Silent_p.L235L NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 235 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 CGAACAGGGACAGCAACACCG 0.622000 3 27 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1484088 1484088 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:1484088A>G ENST00000331035.4 + 9 1166 c.817A>G c.(817-819)Aga>Gga p.R273G IL3RA_ENST00000381469.2_Missense_Mutation_p.R195G NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 273 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGTACAAATAAGAGCCCGGGA 0.562000 29 48 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118364952 118364952 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:118364952T>C ENST00000528052.1 + 12 1298 c.1227T>C c.(1225-1227)gaT>gaC p.D409D PNLIPRP1_ENST00000358834.4_Silent_p.D409D|PNLIPRP1_ENST00000534537.1_Silent_p.D409D P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 409 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CAAAGCTGGATGTTGGAACAA 0.428000 25 98 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080573 152080573 + Missense_Mutation SNP C C T rs71585886 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:152080573C>T ENST00000368804.1 - 2 5119 c.5120G>A c.(5119-5121)aGa>aAa p.R1707K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1707 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) GAGGAATTTTCTCTCTCGTTC 0.587000 36 67 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95560417 95560417 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:95560417C>T ENST00000526495.1 - 26 5463 c.5172G>A c.(5170-5172)ccG>ccA p.P1724P DICER1_ENST00000393063.1_Silent_p.P1724P|DICER1_ENST00000527414.1_Silent_p.P1724P|DICER1_ENST00000556045.1_Silent_p.P622P|DICER1_ENST00000541352.1_Silent_p.P1724P|DICER1_ENST00000343455.3_Silent_p.P1724P Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1724 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGTGCTGCCGCGGGTCTTCAT 0.537000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 67 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48547059 48547059 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:48547059G>A ENST00000376701.4 + 10 1017 c.942G>A c.(940-942)ccG>ccA p.P314P NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 314 Poly-Pro. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) AGCCACTTCCGCCGCCCCCAC 0.567000 """Mis, N, F, S""" lymphoma 18 2 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67047367 67047367 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:67047367G>A ENST00000308595.5 + 6 789 c.499G>A c.(499-501)Gag>Aag p.E167K ADRBK1_ENST00000526285.1_Missense_Mutation_p.E167K NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 167 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GAAATTCATTGAGAGGTGAGA 0.567000 13 44 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215430 140215430 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140215430G>T ENST00000525929.1 + 1 1462 c.1462G>T c.(1462-1464)Gcg>Tcg p.A488S PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A488S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGAAGAACGCGCTGGTGTC 0.667000 4 63 0.184627 0.186551 1 1 0 SMYD1 150572 broad.mit.edu 37 2 88409913 88409913 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:88409913G>T ENST00000419482.2 + 10 1440 c.1355G>T c.(1354-1356)cGc>cTc p.R452L SMYD1_ENST00000444564.2_Missense_Mutation_p.R439L|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 CGCATGTTCCGCCAGAACGAA 0.572000 3 23 0.00909568 0.00967413 1 1 0 AZI2 64343 broad.mit.edu 37 3 28380066 28380066 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:28380066C>G ENST00000479665.1 - 3 788 c.257G>C c.(256-258)cGa>cCa p.R86P AZI2_ENST00000420543.2_Missense_Mutation_p.R86P|AZI2_ENST00000457172.1_Missense_Mutation_p.R86P|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.R86P NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 86 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 TACTTGTTCTCGTCCCACGGA 0.348000 3 71 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104152923 104152923 + Silent SNP C C A rs112523896 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:104152923C>A ENST00000388887.2 + 65 7324 c.7120C>A c.(7120-7122)Cgg>Agg p.R2374R RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2374 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTTGTCTGGGCGGGACATCGA 0.463000 25 104 1.77063e-15 2.21901e-15 1 1 0 NDUFB10 4716 broad.mit.edu 37 16 2011547 2011547 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:2011547T>C ENST00000543683.2 + 3 401 c.319T>C c.(319-321)Tgt>Cgt p.C107R NDUFB10_ENST00000268668.6_Missense_Mutation_p.C107R|NDUFB10_ENST00000569148.1_Missense_Mutation_p.C96R O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 107 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) GCTCAAAGCCTGTCAGCAGAG 0.517000 62 51 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15616524 15616524 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:15616524C>G ENST00000321169.5 - 10 1236 c.869G>C c.(868-870)gGa>gCa p.G290A HACL1_ENST00000435217.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.G263A|HACL1_ENST00000451445.2_Missense_Mutation_p.G208A|HACL1_ENST00000457447.2_Missense_Mutation_p.G264A NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 290 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TGGAGGCAGTCCAAAATGTAA 0.338000 9 54 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30673532 30673532 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:30673532G>C ENST00000376406.3 - 10 4075 c.3428C>G c.(3427-3429)tCt>tGt p.S1143C MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S879C NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1143 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGTGGCCTGAGATGTGGGCTT 0.607000 Other conserved DNA damage response genes 5 180 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188328 72188328 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:72188328C>T ENST00000537465.1 - 4 354 c.196G>A c.(196-198)Gag>Aag p.E66K PMFBP1_ENST00000237353.10_Missense_Mutation_p.E66K|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 66 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TCTGACTCCTCGAATGCTAAT 0.418000 5 90 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3777906 3777906 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:3777906C>A ENST00000262367.5 - 31 7951 c.7142G>T c.(7141-7143)gGt>gTt p.G2381V CREBBP_ENST00000382070.3_Missense_Mutation_p.G2343V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2381 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGGGGGAACCAGTCTGGGG 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 21 54 8.04996e-18 1.01673e-17 1 1 0 KLHDC10 23008 broad.mit.edu 37 7 129756427 129756427 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:129756427G>A ENST00000335420.5 + 3 530 c.396G>A c.(394-396)tgG>tgA p.W132* KLHDC10_ENST00000495724.1_3'UTR NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 132 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 GGGAACTCTGGAGGTATCATT 0.463000 12 42 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179874 3179874 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:3179874C>T ENST00000246115.3 + 1 1139 c.1084C>T c.(1084-1086)Cgc>Tgc p.R362C NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 362 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 GGACAGCTTTCGCGGCTCCCG 0.672000 34 60 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50784954 50784954 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:50784954G>T ENST00000440075.2 + 33 4441 c.4394G>T c.(4393-4395)cGc>cTc p.R1465L MYH14_ENST00000425460.1_Missense_Mutation_p.R1432L|MYH14_ENST00000601313.1_Missense_Mutation_p.R1465L|MYH14_ENST00000376970.2_Missense_Mutation_p.R1457L|MYH14_ENST00000262269.8_Missense_Mutation_p.R1465L|MYH14_ENST00000598205.1_Missense_Mutation_p.R1432L|MYH14_ENST00000596571.1_Missense_Mutation_p.R1424L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1424 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CTGACCCAGCGCCTGGCAGAA 0.746000 9 23 5.4927e-09 6.62677e-09 1 1 0 STAC3 246329 broad.mit.edu 37 12 57637690 57637690 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:57637690C>T ENST00000332782.2 - 12 1201 c.1000G>A c.(1000-1002)Gtg>Atg p.V334M STAC3_ENST00000546246.2_Missense_Mutation_p.V148M|STAC3_ENST00000554578.1_Missense_Mutation_p.V295M NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 334 SH3 2. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 TTCTGCACCACGATCTAGAAG 0.542000 OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55965712 55965712 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:55965712G>A ENST00000389286.4 - 10 1756 c.1709C>T c.(1708-1710)cCg>cTg p.P570L NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 570 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CGTGGTCCCCGGGAGCTCCAG 0.547000 18 53 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161115979 161115979 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:161115979C>T ENST00000274545.5 + 4 683 c.250C>T c.(250-252)Cgc>Tgc p.R84C GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 84 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTTTTTTCCGCCAGACCTG 0.408000 TCGA Ovarian(5;0.080) 4 77 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105622234 105622234 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:105622234G>A ENST00000331782.3 - 4 971 c.568C>T c.(568-570)Ctg>Ttg p.L190L JAG2_ENST00000347004.2_Silent_p.L190L|RP11-44N21.4_ENST00000548203.1_RNA NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 190 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TGCAGCTCCAGGTGCGCCACG 0.627000 4 12 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141889682 141889682 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:141889682C>A ENST00000522684.1 - 4 479 c.250G>T c.(250-252)Gga>Tga p.G84* PTK2_ENST00000535192.1_Nonsense_Mutation_p.G84*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.G84*|PTK2_ENST00000519881.1_Nonsense_Mutation_p.G84*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.G84*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.G84*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.G128*|PTK2_ENST00000520892.1_Nonsense_Mutation_p.G84*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.G128* NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 84 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) AGGCGGAATCCATAGCAGGCC 0.488000 5 218 3.59834e-05 4.10634e-05 1 1 0 PRLHR 2834 broad.mit.edu 37 10 120354417 120354417 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:120354417C>A ENST00000239032.2 - 2 478 c.340G>T c.(340-342)Gtg>Ttg p.V114L PRLHR_ENST00000369169.1_Missense_Mutation_p.V114L NM_004248.2 NP_004239 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 114 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GTGAGCGGCACGCAGGCGGTG 0.667000 3 38 0.004672 0.00502421 1 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056117 26056117 + Silent SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:26056117C>G ENST00000343677.2 - 1 582 c.540G>C c.(538-540)gcG>gcC p.A180A NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 180 nucleosome assembly nucleosome|nucleus DNA binding p.A180A(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TCTTGGGCTTCGCAACCTTGG 0.542000 76 70 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133506028 133506028 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:133506028C>G ENST00000319725.9 + 13 1206 c.1131C>G c.(1129-1131)atC>atG p.I377M NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 377 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GTGAGAACATCAAAAGCATCA 0.592000 15 32 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447196 10447196 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:10447196G>C ENST00000326756.3 - 3 1195 c.757C>G c.(757-759)Caa>Gaa p.Q253E NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CACTTATTTTGAAATGTAGTC 0.413000 31 146 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919825 12919825 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:12919825C>G ENST00000240189.2 + 3 652 c.565C>G c.(565-567)Cta>Gta p.L189V NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 189 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGTCAATTATCTAACGCCAAT 0.403000 86 400 0 0 1 0 0 ALAD 210 broad.mit.edu 37 9 116153854 116153854 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:116153854C>G ENST00000409155.3 - 4 410 c.214G>C c.(214-216)Ggc>Cgc p.G72R ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Missense_Mutation_p.G55R NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 72 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) CAGCGTAGGCCCTCTTCCACC 0.577000 5 53 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197662607 197662607 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:197662607G>C ENST00000263956.3 - 2 217 c.128C>G c.(127-129)tCa>tGa p.S43* GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S43* NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 43 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCAGCTGATAACTTGCC 0.368000 18 80 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154744114 154744114 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:154744114G>C ENST00000607772.1 - 8 1277 c.733C>G c.(733-735)Cct>Gct p.P245A CNKSR3_ENST00000433165.2_Missense_Mutation_p.P70A|CNKSR3_ENST00000479339.1_Missense_Mutation_p.P165A NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 245 PDZ. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTGTCTGCAGGAGACTGTACA 0.358000 8 23 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 48965041 48965041 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:48965041A>G ENST00000356401.4 + 3 389 c.50A>G c.(49-51)tAt>tGt p.Y17C ARIH2_ENST00000449376.1_Missense_Mutation_p.Y17C|ARIH2_ENST00000490095.1_Intron NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 17 Asp/Glu-rich (acidic). developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GAAGAGGACTATGACCCAAAT 0.507000 9 10 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73718407 73718407 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:73718407G>T ENST00000427855.1 + 9 808 c.706G>T c.(706-708)Ggg>Tgg p.G236W PAPLN_ENST00000555445.1_Missense_Mutation_p.G236W|PAPLN_ENST00000381166.3_Missense_Mutation_p.G236W|PAPLN_ENST00000340738.5_Missense_Mutation_p.G209W|PAPLN_ENST00000554301.1_Missense_Mutation_p.G236W O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 236 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CTACCTCAATGGGCACTGGAC 0.662000 4 107 0.00909568 0.00967413 1 1 0 CTRL 1506 broad.mit.edu 37 16 67964372 67964372 + Missense_Mutation SNP G G T rs148841919 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:67964372G>T ENST00000574481.1 - 5 999 c.438C>A c.(436-438)aaC>aaA p.N146K NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 146 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TCAGAGCCTCGTTTGAGGATG 0.612000 6 74 0.0293803 0.030644 1 1 0 KIAA1432 57589 broad.mit.edu 37 9 5763392 5763392 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:5763392C>G ENST00000414202.2 + 19 2556 c.2365C>G c.(2365-2367)Ctt>Gtt p.L789V KIAA1432_ENST00000449720.2_Missense_Mutation_p.L673V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L789V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L710V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L710V NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 789 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGCTTTAGTCCTTGGTGCTGT 0.473000 38 125 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44280986 44280986 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:44280986G>C ENST00000244571.4 - 1 77 c.75C>G c.(73-75)ctC>ctG p.L25L RP11-444E17.6_ENST00000505802.1_Intron NM_020745.3 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 25 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GCCGATGGCTGAGGCCCCGCC 0.692000 OREG0017474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 7 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6040227 6040227 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:6040227C>T ENST00000303657.5 - 5 435 c.286G>A c.(286-288)Gag>Aag p.E96K RFX2_ENST00000359161.3_Missense_Mutation_p.E96K|RFX2_ENST00000592546.1_Missense_Mutation_p.E96K NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 ATCTGAGGCTCGGGGTTGTAG 0.597000 27 84 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160122125 160122125 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:160122125G>A ENST00000357388.3 + 5 971 c.520G>A c.(520-522)Gat>Aat p.D174N SMC4_ENST00000344722.5_Missense_Mutation_p.D174N|SMC4_ENST00000360111.2_Missense_Mutation_p.D174N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.D174N|SMC4_ENST00000469762.1_Missense_Mutation_p.D149N NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 174 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGAAGGGGATGATTATGAAGT 0.333000 9 41 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17962584 17962584 + RNA SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:17962584C>A ENST00000458468.1 + 0 579 MIR125B2_ENST00000385128.1_RNA NR_027790.1 CCCTGAGACCCTAACTTGTGA 0.433000 10 82 0.0135373 0.0143041 1 1 0 PPP1CA 5499 broad.mit.edu 37 11 67168659 67168659 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:67168659G>A ENST00000376745.4 - 2 215 c.67C>T c.(67-69)Cgg>Tgg p.R23W PPP1CA_ENST00000312989.7_Missense_Mutation_p.R34W|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Intron NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 23 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TTGCCAGGCCGCGAGCCCTGC 0.637000 18 59 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228504576 228504576 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:228504576C>T ENST00000570156.2 + 62 16397 c.16323C>T c.(16321-16323)gcC>gcT p.A5441A OBSCN_ENST00000422127.1_Silent_p.A4484A|OBSCN_ENST00000284548.11_Silent_p.A4484A|OBSCN_ENST00000366709.4_Silent_p.A1603A|OBSCN_ENST00000366707.4_Silent_p.A2118A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4484 Ig-like 51. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGTCACCGCCGACGGCAGTC 0.706000 5 4 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43034848 43034848 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:43034848G>A ENST00000316099.4 + 2 355 c.266G>A c.(265-267)cGg>cAg p.R89Q HNF4A_ENST00000457232.1_Missense_Mutation_p.R67Q|HNF4A_ENST00000609795.1_Missense_Mutation_p.R67Q|HNF4A_ENST00000415691.2_Missense_Mutation_p.R89Q|HNF4A_ENST00000316673.4_Missense_Mutation_p.R67Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.R89Q NM_000457.4|NM_001258355.1|NM_178849.2 NP_000448.3|NP_001245284.1|NP_849180.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AGGAGCGTGCGGAAGAACCAC 0.612000 5 25 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44636137 44636137 + Nonsense_Mutation SNP C C G rs149936636 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:44636137C>G ENST00000322734.2 + 3 785 c.452C>G c.(451-453)tCa>tGa p.S151* RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GGCCTTATATCACATCACAGA 0.458000 14 66 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148461017 148461017 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:148461017C>G ENST00000324300.5 + 6 1464 c.949C>G c.(949-951)Ctt>Gtt p.L317V EDNRA_ENST00000511804.1_Missense_Mutation_p.L92V|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.L208V|EDNRA_ENST00000358556.4_Missense_Mutation_p.L208V NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 317 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) AATTTTTGCTCTTTGCTGGTT 0.353000 35 97 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39588502 39588502 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:39588502G>C ENST00000352251.3 - 11 1720 c.887C>G c.(886-888)tCa>tGa p.S296* PROSER1_ENST00000350125.3_Nonsense_Mutation_p.S274*|PROSER1_ENST00000484434.3_Intron NM_025138.4 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 296 Pro-rich. TGCTGATGCTGATGGATGATT 0.512000 6 18 0 0 1 0 0 PRPF39 55015 broad.mit.edu 37 14 45581582 45581582 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:45581582A>G ENST00000355765.6 + 11 1804 c.1634A>G c.(1633-1635)aAt>aGt p.N545S NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 545 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 CTCAAACAAAATGAAGAAAAT 0.289000 16 24 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120849189 120849189 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:120849189G>C ENST00000263713.5 + 13 1316 c.1102G>C c.(1102-1104)Gaa>Caa p.E368Q EPB41L5_ENST00000331393.4_Missense_Mutation_p.E368Q|EPB41L5_ENST00000443902.2_Missense_Mutation_p.E368Q|EPB41L5_ENST00000452780.1_Missense_Mutation_p.E368Q|EPB41L5_ENST00000443124.1_Missense_Mutation_p.E368Q NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 368 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AACATCCTTTGAAAGAAGGCC 0.368000 19 34 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129658505 129658505 + Nonstop_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:129658505C>G ENST00000358303.4 - 10 1592 c.1508G>C c.(1507-1509)tGa>tCa p.*503S RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Nonstop_Mutation_p.*432S|ZC3HC1_ENST00000481503.1_Nonstop_Mutation_p.*460S|ZC3HC1_ENST00000311873.5_Nonstop_Mutation_p.*482S|RP11-306G20.1_ENST00000480018.1_RNA NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 0 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GGAGTATCTTCAGCATGAGCA 0.413000 17 47 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123097453 123097453 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:123097453C>T ENST00000466202.1 - 12 2751 c.2175G>A c.(2173-2175)aaG>aaA p.K725K IQUB_ENST00000324698.6_Silent_p.K725K|RP11-332K15.1_ENST00000419832.1_RNA NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 725 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TACTTGTTAGCTTGAGATGAG 0.383000 5 51 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154179579 154179579 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:154179579C>T ENST00000336314.4 + 10 1486 c.1462C>T c.(1462-1464)Cgg>Tgg p.R488W NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 565 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAAGAGGCCTCGGCCATCCCC 0.567000 7 15 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52779390 52779390 + Missense_Mutation SNP T T G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:52779390T>G ENST00000216862.3 - 7 1249 c.856A>C c.(856-858)Atc>Ctc p.I286L CYP24A1_ENST00000395954.3_Missense_Mutation_p.I144L|CYP24A1_ENST00000395955.3_Missense_Mutation_p.I286L NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 286 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CGGTTGTCGATACAAGCTTTG 0.408000 22 22 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20202603 20202603 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:20202603C>G ENST00000263753.4 - 9 1819 c.1680G>C c.(1678-1680)ttG>ttC p.L560F SGOL1_ENST00000443724.1_Missense_Mutation_p.L214F|SGOL1_ENST00000383774.1_Missense_Mutation_p.L214F|SGOL1_ENST00000306698.2_Missense_Mutation_p.L291F|SGOL1_ENST00000419233.2_Missense_Mutation_p.L308F|SGOL1_ENST00000452020.1_Missense_Mutation_p.L291F|SGOL1_ENST00000425061.1_Missense_Mutation_p.L308F|SGOL1_ENST00000421451.1_Missense_Mutation_p.L560F NM_001012410.3|NM_001199252.1 NP_001012410.1|NP_001186181.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 560 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 gactttacctcaagcagatgt 0.368000 68 57 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173934024 173934024 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:173934024T>C ENST00000367696.2 - 10 1920 c.1569A>G c.(1567-1569)ggA>ggG p.G523G RC3H1_ENST00000367694.2_Silent_p.G523G|RC3H1_ENST00000258349.4_Silent_p.G523G Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 523 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 GATCTATTTTTCCTGGTTTCA 0.428000 51 30 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520826 131520826 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:131520826G>A ENST00000423981.1 + 2 1291 c.1181G>A c.(1180-1182)gGa>gAa p.G394E AMER3_ENST00000321420.4_Missense_Mutation_p.G394E NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TTCTCGCCAGGACTTGAGGAG 0.612000 7 26 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175063332 175063332 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:175063332G>T ENST00000239462.4 + 7 1644 c.1531G>T c.(1531-1533)Gtg>Ttg p.V511L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 511 Fibronectin type-III 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAAGGTCTACGTGTGGGCTGA 0.552000 9 31 0.00448238 0.00485258 1 1 0 IQGAP1 8826 broad.mit.edu 37 15 91017821 91017821 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:91017821G>T ENST00000268182.5 + 23 2804 c.2680G>T c.(2680-2682)Gaa>Taa p.E894* IQGAP1_ENST00000560020.1_3'UTR|IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.E322* NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 894 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GAAGATGCGGGAAGAGGTTAT 0.448000 11 39 4.68919e-08 5.60162e-08 1 1 0 AADACL2 344752 broad.mit.edu 37 3 151463418 151463418 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:151463418A>G ENST00000356517.3 + 4 662 c.553A>G c.(553-555)Att>Gtt p.I185V NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 185 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CCGAATCTGCATTGCGGGAGA 0.413000 61 84 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729955 30729955 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:30729955G>C ENST00000295754.5 + 6 1858 c.1476G>C c.(1474-1476)ttG>ttC p.L492F TGFBR2_ENST00000359013.4_Missense_Mutation_p.L517F NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 492 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ACAACGTGTTGAGAGATCGAG 0.483000 30 50 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32640253 32640253 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:32640253C>T ENST00000421745.2 + 10 2028 c.1894C>T c.(1894-1896)Ctt>Ttt p.L632F NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 632 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGTTTTGCTTCTTTATAGCAT 0.373000 5 23 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153284499 153284499 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:153284499G>C ENST00000369980.3 - 4 634 c.467C>G c.(466-468)cCt>cGt p.P156R IRAK1_ENST00000393687.2_Missense_Mutation_p.P156R|IRAK1_ENST00000369974.2_Missense_Mutation_p.P156R|IRAK1_ENST00000393682.1_Missense_Mutation_p.P182R|IRAK1_ENST00000429936.2_Missense_Mutation_p.P182R NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 156 ProST region. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGAGCTCAGGCCCTGAATG 0.627000 3 5 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50305798 50305798 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:50305798G>C ENST00000359032.5 + 16 2122 c.2122G>C c.(2122-2124)Gag>Cag p.E708Q AP2A1_ENST00000354293.5_Intron NM_014203.2 NP_055018.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 708 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CAGCGAGCTGGAGCCGCCTGC 0.652000 3 10 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63445342 63445342 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:63445342G>T ENST00000453546.1 - 10 1403 c.1314C>A c.(1312-1314)ttC>ttA p.F438L ASB12_ENST00000396130.2_Missense_Mutation_p.F54L|ASB12_ENST00000362002.2_Missense_Mutation_p.F63L Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TGCTGTTGATGAAACGTTTGT 0.522000 7 12 0.00198382 0.00215246 1 1 0 ADAM29 11086 broad.mit.edu 37 4 175899008 175899008 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:175899008C>T ENST00000359240.3 + 5 3002 c.2332C>T c.(2332-2334)Caa>Taa p.Q778* RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q778*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q778*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q778* NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 778 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCTCAGAGTCAACCTCCTGT 0.567000 31 112 0 0 1 0 0 CLYBL 171425 broad.mit.edu 37 13 100515253 100515253 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:100515253C>G ENST00000376360.1 + 4 474 c.447C>G c.(445-447)gaC>gaG p.D149E CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.D149E|CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron Q8N0X4 CLYBL_HUMAN citrate lyase beta like 149 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGTTTGCAGACAAATTTTCAT 0.358000 4 60 0 0 1 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271447 26271447 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:26271447G>A ENST00000305910.3 - 1 165 c.166C>T c.(166-168)Cag>Tag p.Q56* NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 56 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.Q56*(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GTCGACTTCTGATAGCGGCGA 0.607000 22 79 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27597567 27597567 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:27597567C>G ENST00000233575.2 + 8 845 c.623C>G c.(622-624)tCt>tGt p.S208C SNX17_ENST00000537606.1_Missense_Mutation_p.S183C|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 208 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTGGGACTCTGCCTATGAT 0.512000 20 113 0 0 1 0 0 ERLIN1 10613 broad.mit.edu 37 10 101943528 101943528 + Silent SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:101943528C>A ENST00000421367.2 - 2 2887 c.180G>T c.(178-180)acG>acT p.T60T ERLIN1_ENST00000407654.3_Silent_p.T60T NM_001100626.1|NM_006459.3 NP_001094096.1|NP_006450.2 O75477 ERLN1_HUMAN ER lipid raft associated 1 58 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) CAGATCTGAACGTAGTAATGA 0.443000 4 38 8.12818e-05 9.16784e-05 1 1 0 CASZ1 54897 broad.mit.edu 37 1 10725290 10725290 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:10725290C>T ENST00000377022.3 - 5 672 c.355G>A c.(355-357)Gag>Aag p.E119K CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.E119K NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TAGACACCCTCGGGAGGCAGC 0.672000 19 58 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726245 53726245 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:53726245C>A ENST00000262135.4 - 4 355 c.262G>T c.(262-264)Gac>Tac p.D88Y RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D88Y|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D88Y|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D88Y NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 88 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CTTTTCTTGTCATTAACTAGC 0.428000 26 123 9.57634e-11 1.16991e-10 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32635516 32635516 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:32635516G>C ENST00000242310.4 - 1 151 c.62C>G c.(61-63)tCa>tGa p.S21* RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 21 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTCCGAGTCTGACATGATGGC 0.557000 30 11 0 0 1 0 0 RAB2A 5862 broad.mit.edu 37 8 61504457 61504457 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:61504457G>T ENST00000262646.7 + 6 754 c.403G>T c.(403-405)Gaa>Taa p.E135* RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Nonsense_Mutation_p.E111* NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 135 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) AGAAGAAGGTGAAGCTTTTGC 0.368000 24 71 1.16021e-09 1.41028e-09 1 1 0 AMOT 154796 broad.mit.edu 37 X 112022306 112022306 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:112022306C>T ENST00000371959.3 - 10 3075 c.3076G>A c.(3076-3078)Gag>Aag p.E1026K AMOT_ENST00000524145.1_Missense_Mutation_p.E1026K|AMOT_ENST00000304758.1_Missense_Mutation_p.E617K|AMOT_ENST00000371962.1_Missense_Mutation_p.E794K NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 1026 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GCAGGAACCTCAGCCTGAGCC 0.537000 4 77 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120306966 120306966 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:120306966G>T ENST00000392521.2 - 3 191 c.136C>A c.(136-138)Ctt>Att p.L46I CIT_ENST00000261833.7_Missense_Mutation_p.L46I NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 46 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTCGGGAAAGAGGAGACATC 0.428000 35 121 3.93418e-24 5.04783e-24 1 1 0 CCDC158 339965 broad.mit.edu 37 4 77300523 77300523 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:77300523G>T ENST00000388914.3 - 8 1101 c.949C>A c.(949-951)Cgt>Agt p.R317S CCDC158_ENST00000434846.2_Missense_Mutation_p.R317S NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 317 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTGAGCTGACGCATATACATA 0.398000 15 42 6.72482e-11 8.23621e-11 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52284499 52284499 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:52284499G>A ENST00000356297.4 - 19 3935 c.3835C>T c.(3835-3837)Cag>Tag p.Q1279* PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q1279* NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1279 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGGTAATCCTGTGGGTATTCT 0.527000 11 20 0 0 1 0 0 MIEN1 84299 broad.mit.edu 37 17 37886004 37886004 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:37886004C>G ENST00000394231.3 - 3 489 c.198G>C c.(196-198)gaG>gaC p.E66D ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_Missense_Mutation_p.E66D|MIEN1_ENST00000474210.1_5'UTR Q9BRT3 CQ037_HUMAN migration and invasion enhancer 1 66 cell redox homeostasis cytosol|membrane selenium binding TTATCTCTATCTCAAAGGCAC 0.488000 4 129 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91763750 91763750 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:91763750C>A ENST00000389857.6 - 22 3951 c.3865G>T c.(3865-3867)Gcg>Tcg p.A1289S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1289 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCCAGCTGCGCGTTGTTCAGT 0.597000 3 22 1 1 1 1 0 WAS 7454 broad.mit.edu 37 X 48547079 48547079 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:48547079G>C ENST00000376701.4 + 10 1037 c.962G>C c.(961-963)cGa>cCa p.R321P NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 321 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCGCCATCTCGAGGAGGGAAC 0.587000 """Mis, N, F, S""" lymphoma 5 9 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168227233 168227233 + RNA SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:168227233C>T ENST00000359760.5 - 0 156 NR_027906.1 GATCCAGCACCGCCCGTCCGG 0.647000 11 46 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47288960 47288960 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:47288960C>T ENST00000335044.2 - 12 1493 c.1136G>A c.(1135-1137)cGc>cAc p.R379H KIF9_ENST00000265529.3_Missense_Mutation_p.R379H|KIF9_ENST00000352910.4_Missense_Mutation_p.R286H|KIF9_ENST00000444589.2_Missense_Mutation_p.R379H|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.R379H NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 379 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CACAAAGGTGCGGTTGGTCTT 0.547000 10 70 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126147485 126147485 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:126147485G>C ENST00000263578.5 + 11 1436 c.1362G>C c.(1360-1362)gaG>gaC p.E454D FOXRED1_ENST00000442061.2_Missense_Mutation_p.E284D|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.E440D NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 454 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) CTGTAGCAGAGATGGTACTGA 0.562000 4 58 0 0 1 0 0 PBDC1 51260 broad.mit.edu 37 X 75396809 75396809 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:75396809G>A ENST00000373358.3 + 5 594 c.391G>A c.(391-393)Gag>Aag p.E131K PBDC1_ENST00000373357.3_Intron NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 GGGCTACACTGAGGAAAACAC 0.413000 15 27 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914975 46914975 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:46914975C>G ENST00000307522.3 - 1 1866 c.1093G>C c.(1093-1095)Gat>Cat p.D365H NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 365 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTCTGATTATCTGCAGCCTCT 0.592000 6 169 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220379266 220379266 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:220379266C>T ENST00000358951.2 - 8 811 c.695G>A c.(694-696)cGa>cAa p.R232Q NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 232 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TACCTGATTTCGACAAGCACG 0.303000 12 20 0 0 1 0 0 TSC22D2 9819 broad.mit.edu 37 3 150176290 150176290 + Nonsense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:150176290C>G ENST00000361875.3 + 4 3226 c.2210C>G c.(2209-2211)tCa>tGa p.S737* TSC22D2_ENST00000361136.2_Nonsense_Mutation_p.S713* NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AAATCTCTTTCAAGCAATGAT 0.408000 27 84 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121312970 121312970 + Splice_Site SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:121312970G>T ENST00000297848.3 + 36 4584 c.e36-1 COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTTCTTTTCAGAGAGATGATG 0.423000 37 251 4.32679e-17 5.45063e-17 1 1 0 PPP3CC 5533 broad.mit.edu 37 8 22398300 22398300 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:22398300G>A ENST00000240139.5 + 14 1851 c.1524G>A c.(1522-1524)aaG>aaA p.K508K PPP3CC_ENST00000397775.3_Silent_p.K517K|PPP3CC_ENST00000289963.8_Silent_p.K498K NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 508 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) ACCAAGGGAAGAAAGCCCATT 0.458000 5 8 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147131158 147131158 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:147131158G>T ENST00000282928.4 + 3 1893 c.1164G>T c.(1162-1164)tcG>tcT p.S388S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 388 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AATCCTCCTCGCAGGGCTCGC 0.622000 5 66 8.12818e-05 9.16784e-05 1 1 0 NEUROD1 4760 broad.mit.edu 37 2 182542962 182542962 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:182542962G>A ENST00000295108.3 - 2 1083 c.626C>T c.(625-627)aCg>aTg p.T209M NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 209 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGCGCTGGCCGTCGGCAGGTG 0.612000 18 51 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32705945 32705945 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:32705945G>T ENST00000380250.3 + 8 1349 c.853G>T c.(853-855)Gag>Tag p.E285* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GTATCCAGTGGAGGATTTTGA 0.408000 16 52 0.000566183 0.000632716 1 1 0 PLEC 5339 broad.mit.edu 37 8 144993062 144993062 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:144993062C>A ENST00000322810.4 - 32 11507 c.11338G>T c.(11338-11340)Gtg>Ttg p.V3780L PLEC_ENST00000354589.3_Missense_Mutation_p.V3643L|PLEC_ENST00000356346.3_Missense_Mutation_p.V3629L|PLEC_ENST00000436759.2_Missense_Mutation_p.V3670L|PLEC_ENST00000354958.2_Missense_Mutation_p.V3621L|PLEC_ENST00000357649.2_Missense_Mutation_p.V3647L|PLEC_ENST00000398774.2_Missense_Mutation_p.V3611L|PLEC_ENST00000527096.1_Missense_Mutation_p.V3666L|PLEC_ENST00000345136.3_Missense_Mutation_p.V3643L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3780 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGCGGCGCACGTAGTCGTAG 0.617000 14 120 3.27435e-08 3.93084e-08 1 1 0 AASS 10157 broad.mit.edu 37 7 121731806 121731806 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:121731806C>A ENST00000393376.1 - 17 2062 c.1967G>T c.(1966-1968)gGa>gTa p.G656V AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G656V Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 656 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CATCAAAACTCCCACTGGACT 0.403000 6 15 0.0215528 0.0225769 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328749 88328749 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:88328749C>T ENST00000325089.6 + 2 1325 c.1106C>T c.(1105-1107)cCg>cTg p.P369L SLITRK5_ENST00000400028.3_Missense_Mutation_p.P128L NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 369 LRRNT. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACCAAATCCCCGGTGCCTTTG 0.592000 20 37 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874295 31874295 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:31874295G>A ENST00000334151.2 - 1 140 c.114C>T c.(112-114)ggC>ggT p.G38G NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 38 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CGTAGCCACCGCCATAGCCCA 0.577000 58 109 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119042868 119042868 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:119042868C>G ENST00000334464.5 - 5 3615 c.3376G>C c.(3376-3378)Gac>Cac p.D1126H NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1126 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TTATCAAGGTCTTCTTCTGTA 0.398000 20 59 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146031388 146031388 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:146031388C>A ENST00000296577.4 + 6 1054 c.539C>A c.(538-540)gCa>gAa p.A180E ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 180 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) CCTAAGGCTGCAAAGGTCGGT 0.308000 35 65 2.52637e-11 3.102e-11 1 1 0 AP3B1 8546 broad.mit.edu 37 5 77311345 77311345 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:77311345G>C ENST00000255194.6 - 26 3195 c.3020C>G c.(3019-3021)tCt>tGt p.S1007C AP3B1_ENST00000519295.1_Missense_Mutation_p.S958C NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 1007 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GATTACAGCAGAAGTTTCATT 0.378000 Hermansky-Pudlak syndrome 17 36 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141889681 141889681 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:141889681C>A ENST00000522684.1 - 4 480 c.251G>T c.(250-252)gGa>gTa p.G84V PTK2_ENST00000535192.1_Missense_Mutation_p.G84V|PTK2_ENST00000521059.1_Missense_Mutation_p.G84V|PTK2_ENST00000519881.1_Missense_Mutation_p.G84V|PTK2_ENST00000340930.3_Missense_Mutation_p.G84V|PTK2_ENST00000395218.2_Missense_Mutation_p.G84V|PTK2_ENST00000517887.1_Missense_Mutation_p.G128V|PTK2_ENST00000520892.1_Missense_Mutation_p.G84V|PTK2_ENST00000519419.1_Missense_Mutation_p.G128V NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 84 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) GAGGCGGAATCCATAGCAGGC 0.488000 5 221 3.59834e-05 4.10634e-05 1 1 0 ZNF559 84527 broad.mit.edu 37 19 9453063 9453063 + Silent SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:9453063C>G ENST00000393883.2 + 6 1584 c.936C>G c.(934-936)ctC>ctG p.L312L ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000587557.1_Silent_p.L376L|ZNF559_ENST00000538743.1_Silent_p.L232L|ZNF559_ENST00000603380.1_Silent_p.L312L|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TCTCAAAACTCAACATTCACA 0.368000 19 56 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256840 140256840 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140256840C>T ENST00000398631.2 + 1 1783 c.1783C>T c.(1783-1785)Cgc>Tgc p.R595C PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAAAGTGCGCGCGGTGGA 0.697000 22 77 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141283903 141283903 + Silent SNP C C A rs144688014 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:141283903C>A ENST00000389484.3 - 48 8750 c.7779G>T c.(7777-7779)acG>acT p.T2593T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2593 LDL-receptor class A 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGAACTCAACCGTGGCACAGG 0.388000 TSP Lung(27;0.18) 4 51 0.000602214 0.000665317 1 1 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 47 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21370907 21370907 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:21370907C>A ENST00000400602.2 - 17 2647 c.2612G>T c.(2611-2613)gGa>gTa p.G871V XPO4_ENST00000255305.6_Missense_Mutation_p.G871V NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 871 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GCTTACCTCTCCAAGATAGCA 0.313000 4 38 1.024e-07 1.21428e-07 1 1 0 SV2B 9899 broad.mit.edu 37 15 91795180 91795180 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:91795180G>T ENST00000394232.1 + 3 1053 c.583G>T c.(583-585)Gtg>Ttg p.V195L SV2B_ENST00000330276.4_Missense_Mutation_p.V195L|SV2B_ENST00000545111.2_Missense_Mutation_p.V44L NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 195 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTCTTCCTTCGTGCAGGGATA 0.587000 14 38 5.3912e-06 6.28542e-06 1 1 0 TFE3 7030 broad.mit.edu 37 X 48888996 48888996 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:48888996C>T ENST00000315869.7 - 9 1459 c.1200G>A c.(1198-1200)caG>caA p.Q400Q TFE3_ENST00000487451.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 400 Helix-loop-helix motif. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GCTGCTCCTTCTGCAGCTTGC 0.592000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 7 6 0 0 1 0 0 ICAM3 3385 broad.mit.edu 37 19 10445851 10445851 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:10445851G>T ENST00000589261.1 - 4 1129 c.597C>A c.(595-597)gcC>gcA p.A199A ICAM3_ENST00000160262.5_Silent_p.A276A P32942 ICAM3_HUMAN intercellular adhesion molecule 3 276 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CTGTGGCTGTGGCCGTTAGCG 0.652000 5 152 0.217242 0.218594 1 1 0 IL1F10 84639 broad.mit.edu 37 2 113832779 113832779 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:113832779C>T ENST00000393197.2 + 4 718 c.297C>T c.(295-297)ttC>ttT p.F99F IL1F10_ENST00000337569.3_Silent_p.F99F|IL1F10_ENST00000341010.2_Silent_p.F99F NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 99 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CCACACGCTTCACCTTCTTCC 0.597000 10 204 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816062 82816062 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:82816062C>T ENST00000265077.3 + 7 2502 c.1937C>T c.(1936-1938)cCa>cTa p.P646L VCAN_ENST00000512590.2_Missense_Mutation_p.P598L|VCAN_ENST00000342785.4_Missense_Mutation_p.P646L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 646 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACACCTTTTCCATCACAGCAT 0.363000 14 49 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122363383 122363383 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:122363383T>C ENST00000263710.4 - 2 478 c.89A>G c.(88-90)tAt>tGt p.Y30C CLASP1_ENST00000541377.1_Missense_Mutation_p.Y30C|CLASP1_ENST00000397587.3_Missense_Mutation_p.Y30C|CLASP1_ENST00000455322.2_Missense_Mutation_p.Y30C|CLASP1_ENST00000409078.3_Missense_Mutation_p.Y30C NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 30 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GTCTGAGAAATAGTCTATCAG 0.483000 11 59 0 0 1 0 0 RNF166 115992 broad.mit.edu 37 16 88767738 88767738 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:88767738C>A ENST00000312838.4 - 2 339 c.244G>T c.(244-246)Gac>Tac p.D82Y RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000567844.1_Intron NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 82 intracellular zinc ion binding endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) GTGGCCTTGTCCACCTTCTTG 0.657000 8 47 0.0581538 0.0600097 1 1 0 PSKH2 85481 broad.mit.edu 37 8 87076599 87076599 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:87076599G>A ENST00000276616.2 - 2 521 c.447C>T c.(445-447)ctC>ctT p.L149L PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 149 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CCTGAGCAATGAGTCGATCAA 0.498000 15 52 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152315394 152315394 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:152315394G>T ENST00000243326.5 + 24 3408 c.2925G>T c.(2923-2925)atG>atT p.M975I RIF1_ENST00000430328.2_Missense_Mutation_p.M975I|RIF1_ENST00000428287.2_Missense_Mutation_p.M975I|RIF1_ENST00000444746.2_Missense_Mutation_p.M975I|RIF1_ENST00000453091.2_Missense_Mutation_p.M975I Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTGAAATGATGGAGGAATCCA 0.328000 3 53 0.150653 0.15286 1 1 0 THNSL1 79896 broad.mit.edu 37 10 25313774 25313774 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:25313774C>G ENST00000524413.1 + 3 1969 c.1622C>G c.(1621-1623)aCt>aGt p.T541S THNSL1_ENST00000376356.4_Missense_Mutation_p.T541S Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 541 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) CATGTTTTGACTGATTTTATA 0.353000 31 50 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149700405 149700405 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:149700405C>T ENST00000367456.1 + 4 1931 c.1354C>T c.(1354-1356)Cga>Tga p.R452* TAB2_ENST00000286332.5_Nonsense_Mutation_p.R452*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.R452*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.R452*|TAB2_ENST00000536230.1_Nonsense_Mutation_p.R420* Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 452 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 AACCTCTCCTCGAGTGGTAGT 0.498000 25 54 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8082509 8082509 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:8082509C>T ENST00000296372.8 - 5 617 c.475G>A c.(475-477)Gaa>Aaa p.E159K ABLIM2_ENST00000361581.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000341937.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.E159K|ABLIM2_ENST00000361737.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000546334.1_Missense_Mutation_p.E159K|ABLIM2_ENST00000505872.1_Missense_Mutation_p.E159K|ABLIM2_ENST00000428004.2_Missense_Mutation_p.E159K|ABLIM2_ENST00000447017.2_Missense_Mutation_p.E159K|ABLIM2_ENST00000407564.3_Missense_Mutation_p.E159K Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 159 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding p.E159K(1) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TTCTTGATTTCTGTGCCGCAG 0.557000 12 28 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102337649 102337649 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:102337649C>T ENST00000369138.1 + 11 2149 c.1659C>T c.(1657-1659)ttC>ttT p.F553F GRIK2_ENST00000413795.1_Silent_p.F553F|GRIK2_ENST00000318991.6_Silent_p.F553F|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Silent_p.F504F|GRIK2_ENST00000421544.1_Silent_p.F553F NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 553 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 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) CAGGCGTCTTCTCCTTCCTGA 0.463000 70 91 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25268336 25268336 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:25268336G>A ENST00000328086.7 - 1 916 c.113C>T c.(112-114)tCg>tTg p.S38L NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) AGAGCTATCCGATCCTTCCAG 0.517000 OREG0023690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 52 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71850672 71850672 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:71850672G>C ENST00000445078.2 + 5 726 c.655G>C c.(655-657)Gag>Cag p.E219Q FOLR3_ENST00000456237.1_Missense_Mutation_p.E221Q|FOLR3_ENST00000442948.2_Missense_Mutation_p.E178Q P41439 FOLR3_HUMAN folate receptor 3 (gamma) 177 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) CAGCACCTTTGAGTCCTACTT 0.607000 11 59 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111884237 111884237 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:111884237C>A ENST00000368761.5 - 8 1960 c.1482G>T c.(1480-1482)caG>caT p.Q494H TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.Q82H|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.Q38H|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.Q503H|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q493H|TRAF3IP2-AS1_ENST00000440395.1_RNA NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 503 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) TGAACTCAATCTGCATCTGAA 0.363000 7 32 1 1 1 1 0 PITX3 5309 broad.mit.edu 37 10 103990642 103990642 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:103990642C>T ENST00000370002.3 - 4 691 c.538G>A c.(538-540)Ggg>Agg p.G180R PITX3_ENST00000539804.1_Missense_Mutation_p.G180R NM_005029.3 NP_005020.1 O75364 PITX3_HUMAN paired-like homeodomain 3 180 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2) 5 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCAGAGGCCCCACGTTGACC 0.706000 4 13 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161333 141161333 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:141161333G>A ENST00000514251.1 + 4 382 c.103G>A c.(103-105)Gtc>Atc p.V35I ZBTB38_ENST00000441582.2_Missense_Mutation_p.V35I|ZBTB38_ENST00000321464.5_Missense_Mutation_p.V36I Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 35 BTB. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 TTTATGCGATGTCACTATCAT 0.433000 39 121 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54338930 54338930 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:54338930G>A ENST00000243056.3 + 2 1039 c.883G>A c.(883-885)Gcc>Acc p.A295T NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 295 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 GCGCATCTCCGCCACCACGAA 0.557000 T NUP98 AML 21 53 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207287558 207287558 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:207287558G>T ENST00000367070.3 + 3 450 c.256G>T c.(256-258)Gtc>Ttc p.V86F NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 86 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CCCTGGCTACGTCAGATCCCA 0.428000 3 74 0.004672 0.00502421 1 1 0 MDC1 9656 broad.mit.edu 37 6 30675733 30675733 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:30675733C>G ENST00000376406.3 - 8 3270 c.2623G>C c.(2623-2625)Gac>Cac p.D875H MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 875 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCATTTTTGTCAGATTCTTGT 0.413000 Other conserved DNA damage response genes 53 226 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1531718 1531718 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chrX:1531718C>A ENST00000534940.1 - 12 1603 c.1378G>T c.(1378-1380)Gct>Tct p.A460S ASMTL_ENST00000416733.2_Missense_Mutation_p.A442S|ASMTL_ENST00000381317.3_Missense_Mutation_p.A518S|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.A502S|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 518 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TACAGCTCAGCGCTGGGGAGG 0.572000 32 172 9.04072e-19 1.14784e-18 1 1 0 TNFRSF19 55504 broad.mit.edu 37 13 24243015 24243015 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr13:24243015G>C ENST00000382263.3 + 9 1208 c.1024G>C c.(1024-1026)Gaa>Caa p.E342Q TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E342Q|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E342Q|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E210Q NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 342 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TCCAGAACTTGAAAGCTCAAC 0.433000 33 88 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102337597 102337597 + Missense_Mutation SNP T T A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:102337597T>A ENST00000369138.1 + 11 2097 c.1607T>A c.(1606-1608)cTt>cAt p.L536H GRIK2_ENST00000413795.1_Missense_Mutation_p.L536H|GRIK2_ENST00000318991.6_Missense_Mutation_p.L536H|GRIK2_ENST00000369137.3_Missense_Mutation_p.L536H|GRIK2_ENST00000369134.4_Missense_Mutation_p.L487H|GRIK2_ENST00000421544.1_Missense_Mutation_p.L536H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 536 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 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) TTTATGACACTTGGAATAAGT 0.453000 27 114 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218700920 218700920 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:218700920C>T ENST00000171887.4 - 18 3099 c.2647G>A c.(2647-2649)Gag>Aag p.E883K TNS1_ENST00000430930.1_Missense_Mutation_p.E883K|TNS1_ENST00000419504.1_Missense_Mutation_p.E883K NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 883 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGCTGCTTCTCCCGAGCCTGT 0.577000 14 41 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122111491 122111491 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:122111491G>A ENST00000334010.7 - 13 2548 c.2127C>T c.(2125-2127)gtC>gtT p.V709V CADPS2_ENST00000412584.2_Silent_p.V705V|CADPS2_ENST00000449022.2_Silent_p.V708V|CADPS2_ENST00000313070.7_Silent_p.V705V NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 708 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TAGGGTCAATGACAGCACCAT 0.453000 8 10 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25540226 25540226 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:25540226G>T ENST00000329474.6 + 26 2616 c.2248G>T c.(2248-2250)Ggc>Tgc p.G750C NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 750 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GGGAGCCAGTGGCTTACTATC 0.388000 5 30 0.000157383 0.000176284 1 1 0 EPHA1 2041 broad.mit.edu 37 7 143095086 143095086 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:143095086G>A ENST00000275815.3 - 8 1628 c.1542C>T c.(1540-1542)gtC>gtT p.V514V NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 514 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TTCGGACTCTGACGATGTATG 0.557000 8 30 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604655 160604655 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:160604655G>T ENST00000259050.4 + 5 976 c.854G>T c.(853-855)cGc>cTc p.R285L MARCH7_ENST00000539065.1_Missense_Mutation_p.R229L|MARCH7_ENST00000409175.1_Missense_Mutation_p.R285L|MARCH7_ENST00000409591.1_Missense_Mutation_p.R247L NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TTGCTGTCACGCATAGCTTCT 0.383000 7 95 2.0095e-06 2.35412e-06 1 1 0 C9orf156 51531 broad.mit.edu 37 9 100667175 100667175 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:100667175C>A ENST00000375119.3 - 5 1242 c.1166G>T c.(1165-1167)cGg>cTg p.R389L NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 389 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) GCAAAGCTTCCGGCGGTACAC 0.517000 17 37 2.35188e-11 2.89508e-11 1 1 0 ANK3 288 broad.mit.edu 37 10 61828623 61828623 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:61828623C>G ENST00000280772.2 - 37 12207 c.12016G>C c.(12016-12018)Gag>Cag p.E4006Q ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTAAGGTCTCACCACTAATT 0.433000 35 114 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25835109 25835109 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:25835109C>T ENST00000399878.3 - 4 1065 c.943G>A c.(943-945)Gag>Aag p.E315K SEL1L3_ENST00000264868.5_Missense_Mutation_p.E280K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E162K|SEL1L3_ENST00000513364.1_5'UTR NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 315 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CCGTACATCTCATTAGAGTCA 0.388000 3 37 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10397460 10397460 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:10397460G>C ENST00000377086.1 + 31 3493 c.3291G>C c.(3289-3291)aaG>aaC p.K1097N KIF1B_ENST00000263934.6_Missense_Mutation_p.K1051N|KIF1B_ENST00000377081.1_Missense_Mutation_p.K1097N O60333 KIF1B_HUMAN kinesin family member 1B 1097 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGGATGGTAAGATGGTAATGG 0.463000 29 156 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145772682 145772682 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:145772682G>A ENST00000276826.5 - 4 1989 c.1788C>T c.(1786-1788)ccC>ccT p.P596P ARHGAP39_ENST00000540274.1_Silent_p.P596P|ARHGAP39_ENST00000377307.2_Silent_p.P596P Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 596 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCACCGGCCCGGGCATGGGCA 0.687000 3 16 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12329608 12329608 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:12329608C>T ENST00000269143.3 - 17 2581 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_3'UTR NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 784 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TTCTCCTTTTCCCGCTCCTTG 0.522000 39 40 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121008405 121008405 + Missense_Mutation SNP G G A rs139732688 by1000genomes TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:121008405G>A ENST00000392793.1 + 11 3488 c.3217G>A c.(3217-3219)Gag>Aag p.E1073K TECTA_ENST00000264037.2_Missense_Mutation_p.E1073K O75443 TECTA_HUMAN tectorin alpha 1073 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGTCCACTGCGAGACCATTCC 0.577000 16 41 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27518478 27518478 + Splice_Site SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:27518478C>A ENST00000356183.4 - 9 1258 c.e9-1 GTF3C1_ENST00000561623.1_Splice_Site NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCATGAATCCCTAGAGGGAAT 0.507000 10 92 0.0692343 0.0711412 1 1 0 OR51A4 401666 broad.mit.edu 37 11 4967756 4967756 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:4967756G>A ENST00000380373.2 - 1 600 c.575C>T c.(574-576)tCt>tTt p.S192F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGTTGTCAGAACAGGCCAA 0.408000 22 36 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15888662 15888662 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:15888662G>C ENST00000375847.3 + 9 1344 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q DNAJC16_ENST00000375838.1_Missense_Mutation_p.E394Q|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E394Q|DNAJC16_ENST00000483270.1_3'UTR NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 394 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) ATTGACTGCTGAGACTACCAA 0.458000 31 200 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131375659 131375659 + Splice_Site SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:131375659G>A ENST00000358161.5 + 40 5156 c.e40-1 SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TTCATTGCCAGGTGGAGGCCC 0.483000 44 10 0 0 1 0 0 ZNF713 349075 broad.mit.edu 37 7 56007392 56007392 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:56007392A>G ENST00000429591.2 + 4 1024 c.986A>G c.(985-987)tAt>tGt p.Y329C MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAAAAGCCCTATAAATGTAAT 0.408000 35 73 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9580668 9580668 + Missense_Mutation SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:9580668A>G ENST00000460593.1 + 8 1836 c.698A>G c.(697-699)tAt>tGt p.Y233C CPSF3_ENST00000238112.3_Missense_Mutation_p.Y270C Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 270 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) CCAATATACTATGCATCATCT 0.383000 23 59 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17877490 17877490 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:17877490G>T ENST00000594202.1 + 7 486 c.207G>T c.(205-207)ccG>ccT p.P69P FCHO1_ENST00000596951.1_Silent_p.P69P|FCHO1_ENST00000539407.1_Silent_p.P69P|FCHO1_ENST00000600676.1_Silent_p.P69P|FCHO1_ENST00000252771.7_Silent_p.P69P|FCHO1_ENST00000595033.1_Silent_p.P19P|FCHO1_ENST00000389133.4_Silent_p.P69P|FCHO1_ENST00000597512.1_Silent_p.P76P|FCHO1_ENST00000596536.1_Silent_p.P69P NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 69 FCH. NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCTTCGCCCCGCTCTGGGAGG 0.642000 15 12 6.31663e-08 7.52718e-08 1 1 0 UBR5 51366 broad.mit.edu 37 8 103293664 103293664 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:103293664G>C ENST00000520539.1 - 41 6386 c.5780C>G c.(5779-5781)tCt>tGt p.S1927C UBR5_ENST00000521922.1_Missense_Mutation_p.S1921C|UBR5_ENST00000220959.4_Missense_Mutation_p.S1927C NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1927 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATCATTATGAGACCGCATTAG 0.423000 15 92 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13870024 13870024 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:13870024G>A ENST00000586600.1 + 9 1014 c.511G>A c.(511-513)Gag>Aag p.E171K CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E171K P13994 CC130_HUMAN coiled-coil domain containing 130 171 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) CCACATCCAGGAGGCCCAGAG 0.652000 5 8 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898960 175898960 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:175898960C>G ENST00000359240.3 + 5 2954 c.2284C>G c.(2284-2286)Cct>Gct p.P762A RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P762A|ADAM29_ENST00000404450.4_Missense_Mutation_p.P762A|ADAM29_ENST00000445694.1_Missense_Mutation_p.P762A NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 762 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAGTCAACCTCCTGTGACACC 0.572000 25 102 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47758272 47758272 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:47758272C>T ENST00000263773.5 - 9 1489 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 493 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TCTATTTTTTCTGAATTTTCA 0.308000 11 18 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2209866 2209866 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:2209866C>A ENST00000511885.2 - 5 915 c.562G>T c.(562-564)Ggg>Tgg p.G188W POLN_ENST00000382865.1_Missense_Mutation_p.G188W|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 188 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCTGAGTTCCCAGAATTTAGG 0.368000 DNA polymerases (catalytic subunits) 19 79 8.00594e-06 9.31146e-06 1 1 0 EWSR1 2130 broad.mit.edu 37 22 29693903 29693903 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:29693903C>T ENST00000397938.2 + 13 1700 c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C EWSR1_ENST00000331029.7_Missense_Mutation_p.R423C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R460C|EWSR1_ENST00000414183.2_Missense_Mutation_p.R466C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R405C|EWSR1_ENST00000332050.6_Missense_Mutation_p.R388C NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 461 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCTGCCACCCCGTGAGGGCAG 0.488000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 11 58 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21460707 21460707 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr14:21460707G>A ENST00000339374.6 + 5 687 c.454G>A c.(454-456)Gag>Aag p.E152K METTL17_ENST00000382985.4_Missense_Mutation_p.E152K|METTL17_ENST00000556670.2_Missense_Mutation_p.E152K NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 152 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CAGCTACACTGAGGGACTGAG 0.433000 8 26 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637606 248637606 + Nonstop_Mutation SNP T T A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:248637606T>A ENST00000359594.2 + 1 980 c.955T>A c.(955-957)Tag>Aag p.*319K NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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;0.0265) CCAAGAAAAGTAGTAAAGGGC 0.502000 29 103 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44115978 44115978 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:44115978C>A ENST00000262419.6 - 10 2937 c.2467G>T c.(2467-2469)Gtg>Ttg p.V823L KANSL1_ENST00000572904.1_Missense_Mutation_p.V823L|KANSL1_ENST00000432791.1_Missense_Mutation_p.V823L|KANSL1_ENST00000393476.3_Missense_Mutation_p.V117L|KANSL1_ENST00000574590.1_Missense_Mutation_p.V823L|KANSL1_ENST00000575318.1_Missense_Mutation_p.V760L NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 823 MLL1 complex protein binding AGCTGTCGCACCAAGGGACTG 0.562000 8 40 1.12685e-05 1.29815e-05 1 1 0 MXRA8 54587 broad.mit.edu 37 1 1290660 1290660 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:1290660C>T ENST00000477278.2 - 4 928 c.415G>A c.(415-417)Gag>Aag p.E139K MXRA8_ENST00000342753.4_Missense_Mutation_p.E47K|MXRA8_ENST00000309212.6_Missense_Mutation_p.E148K|MXRA8_ENST00000445648.2_Missense_Mutation_p.E148K NM_001282583.1 NP_001269512.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 Ig-like V-type 1. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCAGGCTCTCGTAGAGGTGG 0.731000 7 19 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187630782 187630782 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:187630782G>A ENST00000441802.2 - 2 409 c.200C>T c.(199-201)gCg>gTg p.A67V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 67 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TACTTCCCACGCTGGATGTGT 0.448000 HNSCC(5;0.00058) 13 43 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66326739 66326739 + RNA SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:66326739G>C ENST00000504911.1 - 0 220 ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA GCGCGACTACGATTCGGCTTT 0.687000 6 46 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7354882 7354882 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:7354882G>T ENST00000266564.3 + 7 705 c.688G>T c.(688-690)Gag>Tag p.E230* PEX5_ENST00000266563.5_Intron|PEX5_ENST00000412720.2_Nonsense_Mutation_p.E251*|PEX5_ENST00000434354.2_Nonsense_Mutation_p.E245*|PEX5_ENST00000455147.2_Nonsense_Mutation_p.E230*|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Nonsense_Mutation_p.E230* NM_000319.4 NP_000310.2 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 230 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GGTGTCCCTGGAGTCCGGTGC 0.577000 8 36 0.0477658 0.0495008 1 1 0 E2F7 144455 broad.mit.edu 37 12 77438507 77438507 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:77438507C>T ENST00000322886.7 - 6 1133 c.898G>A c.(898-900)Gtc>Atc p.V300I E2F7_ENST00000416496.2_Missense_Mutation_p.V300I NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 300 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GTTTTGGAGACGAGGAACAGC 0.393000 5 126 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49052780 49052780 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:49052780C>T ENST00000226432.4 + 15 2118 c.1935C>T c.(1933-1935)atC>atT p.I645I CWH43_ENST00000513409.1_Silent_p.I618I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 645 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AATTTAGGATCCCTGATGACC 0.393000 8 64 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18443805 18443805 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:18443805C>T ENST00000433979.1 + 4 894 c.778C>T c.(778-780)Cat>Tat p.H260Y PIK3C2G_ENST00000266497.5_Missense_Mutation_p.H260Y|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.H260Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.H260Y NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 260 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGAAAGATATCATGCAGCTGA 0.323000 5 12 0 0 1 0 0 SAMD8 142891 broad.mit.edu 37 10 76910669 76910669 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:76910669C>G ENST00000372687.4 + 2 468 c.383C>G c.(382-384)tCt>tGt p.S128C SAMD8_ENST00000542569.1_Missense_Mutation_p.S128C|SAMD8_ENST00000372690.3_Missense_Mutation_p.S191C Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GACTTGAATTCTGATCAGTAC 0.413000 4 70 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472134 52472134 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:52472134C>A ENST00000231721.2 - 14 1590 c.1591G>T c.(1591-1593)Gag>Tag p.E531* NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 531 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AGGCAGCACTCTGCACAGGCA 0.647000 8 27 5.4927e-09 6.62677e-09 1 1 0 ZNF600 162966 broad.mit.edu 37 19 53270961 53270961 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:53270961G>A ENST00000338230.3 - 3 315 c.48C>T c.(46-48)atC>atT p.I16I NM_198457.2 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TCCCTGTGTGGATCACTTCTG 0.363000 45 241 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769076 140769076 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140769076C>T ENST00000519479.1 + 1 1625 c.1625C>T c.(1624-1626)gCg>gTg p.A542V PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCTCAGCGCGAACGTGAGC 0.687000 7 27 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1445031 1445031 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:1445031G>C ENST00000446702.2 + 23 3643 c.3016G>C c.(3016-3018)Gaa>Caa p.E1006Q CNTN6_ENST00000350110.2_Missense_Mutation_p.E1006Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.E934Q Q9UQ52 CNTN6_HUMAN contactin 6 1006 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCAATTCTTAGAACCTAGCAC 0.294000 17 85 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32612857 32612857 + Silent SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:32612857G>T ENST00000305869.3 + 1 171 c.30G>T c.(28-30)ctG>ctT p.L10L NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 10 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) TTCTGTGGCTGCTGCTCATAG 0.587000 29 121 9.80776e-20 1.24849e-19 1 1 0 MYH11 4629 broad.mit.edu 37 16 15826424 15826424 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:15826424C>G ENST00000452625.2 - 28 3756 c.3669G>C c.(3667-3669)aaG>aaC p.K1223N MYH11_ENST00000396324.3_Missense_Mutation_p.K1223N|MYH11_ENST00000300036.5_Missense_Mutation_p.K1216N|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.K1216N NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1216 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCATTACCCTCTTGAACTGCT 0.493000 T CBFB AML 28 65 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123987417 123987417 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:123987417G>A ENST00000369005.1 + 14 8130 c.7790G>A c.(7789-7791)cGa>cAa p.R2597Q TACC2_ENST00000369000.1_Missense_Mutation_p.R297Q|TACC2_ENST00000369004.3_Missense_Mutation_p.R687Q|TACC2_ENST00000369001.1_Missense_Mutation_p.R301Q|TACC2_ENST00000358010.1_Missense_Mutation_p.R743Q|TACC2_ENST00000513429.1_Missense_Mutation_p.R743Q|TACC2_ENST00000334433.3_Missense_Mutation_p.R2597Q|TACC2_ENST00000368999.1_Missense_Mutation_p.R687Q|TACC2_ENST00000515603.1_Missense_Mutation_p.R2552Q|TACC2_ENST00000260733.3_Missense_Mutation_p.R675Q|TACC2_ENST00000515273.1_Missense_Mutation_p.R2601Q|TACC2_ENST00000360561.3_Missense_Mutation_p.R675Q|TACC2_ENST00000453444.2_Missense_Mutation_p.R2601Q NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2597 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTGTCCCACGAGGACTGGCC 0.537000 18 76 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132440815 132440815 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:132440815C>A ENST00000326682.8 - 1 461 c.385G>T c.(385-387)Gaa>Taa p.E129* NPHP3_ENST00000337331.5_Nonsense_Mutation_p.E129*|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Nonsense_Mutation_p.E129*|NPHP3_ENST00000343113.4_Nonsense_Mutation_p.E129* Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 129 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCTGCAGTTCGGCCCGCAGC 0.642000 9 17 1.12685e-05 1.29815e-05 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38120668 38120668 + Missense_Mutation SNP A A T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:38120668A>T ENST00000406386.3 + 7 2360 c.2105A>T c.(2104-2106)cAa>cTa p.Q702L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 702 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCCTGTGCCCAACGGGACGAT 0.582000 13 40 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711156 140711156 + Nonsense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr5:140711156C>G ENST00000517417.1 + 1 905 c.905C>G c.(904-906)tCa>tGa p.S302* PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.S302* NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATATCAAATAAAGAA 0.418000 15 33 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568842 99568842 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:99568842C>G ENST00000331335.5 - 5 2148 c.1678G>C c.(1678-1680)Gta>Cta p.V560L FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V560L|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V320L|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V320L|FILIP1L_ENST00000487087.1_Missense_Mutation_p.V136L NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 560 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TCCTTGGTTACGCTGTACATC 0.358000 10 68 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674582 4674582 + Missense_Mutation SNP G G A rs146565220 byFrequency TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:4674582G>A ENST00000396952.5 + 2 1476 c.826G>A c.(826-828)Gtc>Atc p.V276I OR51E1_ENST00000530215.1_Silent_p.P52P NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V275I(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCGCTGCCCGTCATCTTGGC 0.483000 21 33 0 0 1 0 0 EFNA1 1942 broad.mit.edu 37 1 155106431 155106431 + Splice_Site SNP A A G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:155106431A>G ENST00000368407.3 + 5 1024 c.506A>G c.(505-507)gAt>gGt p.D169G EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Splice_Site_p.D147G NM_004428.2 NP_004419.2 P20827 EFNA1_HUMAN ephrin-A1 169 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1) 5 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) CACCTTGCAGATGACCCAGAG 0.577000 6 8 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147161 26147161 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:26147161C>T ENST00000331351.5 + 2 1355 c.963C>T c.(961-963)ctC>ctT p.L321L HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 321 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) ACCGGACCCTCGGGCTGATCG 0.547000 41 201 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19955925 19955925 + Missense_Mutation SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:19955925G>T ENST00000255006.6 + 8 1552 c.1403G>T c.(1402-1404)cGg>cTg p.R468L RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 419 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCTGAATCACGGCCCCCGTGC 0.697000 3 13 6.4e-05 7.26932e-05 1 1 0 DST 667 broad.mit.edu 37 6 56417488 56417488 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:56417488G>A ENST00000370754.5 - 61 16008 c.16009C>T c.(16009-16011)Cag>Tag p.Q5337* DST_ENST00000361203.3_Nonsense_Mutation_p.Q5157*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4833*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5159*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3071*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q2745*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q3071* Q03001 DYST_HUMAN dystonin 5157 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAACCTGCTGACTTAGTGTA 0.428000 12 51 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10222344 10222344 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:10222344C>A ENST00000418404.3 - 26 3664 c.3501G>T c.(3499-3501)atG>atT p.M1167I MYH13_ENST00000252172.4_Missense_Mutation_p.M1167I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1167 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTTCTTGTTCATCTCAATCT 0.582000 54 55 3.76628e-20 4.80697e-20 1 1 0 C10orf32-ASMT 100528007 broad.mit.edu 37 10 104620266 104620266 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:104620266G>C ENST00000299353.6 + 3 231 c.216G>C c.(214-216)aaG>aaC p.K72N C10orf32_ENST00000339834.5_Missense_Mutation_p.K72N|C10orf32_ENST00000369883.3_Missense_Mutation_p.K72N GTTTAAGGAAGATGGCAATAA 0.378000 3 69 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87514376 87514376 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:87514376G>A ENST00000265728.1 + 3 806 c.302G>A c.(301-303)cGa>cAa p.R101Q NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 101 BRCT 1. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) ACCTTGGGTCGAATTTCTCCT 0.388000 8 28 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1807889 1807889 + Missense_Mutation SNP A A G rs78311289 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:1807889A>G ENST00000340107.4 + 14 2210 c.1954A>G c.(1954-1956)Aag>Gag p.K652E FGFR3_ENST00000412135.2_Missense_Mutation_p.K538E|FGFR3_ENST00000440486.2_Missense_Mutation_p.K650E|FGFR3_ENST00000260795.2_Missense_Mutation_p.K650E|FGFR3_ENST00000352904.1_Missense_Mutation_p.K538E|FGFR3_ENST00000481110.2_Missense_Mutation_p.K651E NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 650 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.K650E(46)|p.K650Q(5) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTACTACAAGAAGACGACCAA 0.667000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 10 14 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102291867 102291867 + RNA SNP G G T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr15:102291867G>T ENST00000561463.1 + 0 633 CAACAAGACCGTGTGGAACCT 0.562000 4 57 2.56e-06 2.99181e-06 1 1 0 TENM3 55714 broad.mit.edu 37 4 183676174 183676174 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:183676174G>C ENST00000511685.1 + 22 4777 c.4654G>C c.(4654-4656)Gat>Cat p.D1552H TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.D1552H teneurin transmembrane protein 3 CAATGACAATGATATTACTGC 0.408000 10 35 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135772892 135772892 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr9:135772892C>A ENST00000298552.3 - 21 2952 c.2731G>T c.(2731-2733)Gaa>Taa p.E911* TSC1_ENST00000440111.2_Nonsense_Mutation_p.E911*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.E860* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 911 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GATTCCAGTTCCAAAATCCGT 0.433000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 118 12 2.96273e-59 3.8318e-59 1 1 0 PLEC 5339 broad.mit.edu 37 8 144991704 144991704 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:144991704C>T ENST00000322810.4 - 32 12865 c.12696G>A c.(12694-12696)acG>acA p.T4232T PLEC_ENST00000354589.3_Silent_p.T4095T|PLEC_ENST00000356346.3_Silent_p.T4081T|PLEC_ENST00000436759.2_Silent_p.T4122T|PLEC_ENST00000354958.2_Silent_p.T4073T|PLEC_ENST00000357649.2_Silent_p.T4099T|PLEC_ENST00000398774.2_Silent_p.T4063T|PLEC_ENST00000527096.1_Silent_p.T4118T|PLEC_ENST00000345136.3_Silent_p.T4095T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4232 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTTCTCCTCCGTGTTAGGGT 0.602000 18 108 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877931 200877931 + Silent SNP T T G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:200877931T>G ENST00000367342.4 + 7 1103 c.903T>G c.(901-903)ctT>ctG p.L301L C1orf106_ENST00000413687.2_Silent_p.L216L NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 301 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCAAACCCTTGAGGGTCTGC 0.592000 8 60 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39025833 39025833 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:39025833C>T ENST00000355481.4 + 79 11528 c.11397C>T c.(11395-11397)ctC>ctT p.L3799L RYR1_ENST00000359596.3_Silent_p.L3804L|RYR1_ENST00000360985.3_Silent_p.L3804L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3804 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCTCCATCCTCAATGGAGGCA 0.552000 10 36 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92537933 92537933 + Missense_Mutation SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:92537933T>C ENST00000256015.3 - 2 800 c.439A>G c.(439-441)Atc>Gtc p.I147V NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 147 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) TTACAGCTGATTCGGCTGTCT 0.468000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 36 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010081 161010081 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:161010081G>A ENST00000368021.3 - 10 958 c.754C>T c.(754-756)Cag>Tag p.Q252* USF1_ENST00000368020.1_Nonsense_Mutation_p.Q252*|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q193*|USF1_ENST00000368019.1_Nonsense_Mutation_p.Q224* NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 252 Helix-loop-helix motif. cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CGAAGCTCCTGGATATAATCA 0.463000 24 79 0 0 1 0 0 ADRA2A 150 broad.mit.edu 37 10 112838147 112838147 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr10:112838147C>G ENST00000280155.2 + 1 1358 c.393C>G c.(391-393)ttC>ttG p.F131L NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 116 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding p.F116L(2) breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) ACGTGCTCTTCTGCACGTCGT 0.622000 10 17 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1415733 1415733 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:1415733G>C ENST00000446702.2 + 16 2698 c.2071G>C c.(2071-2073)Gaa>Caa p.E691Q CNTN6_ENST00000350110.2_Missense_Mutation_p.E691Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.E619Q Q9UQ52 CNTN6_HUMAN contactin 6 691 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGAACCATCAGAATTGTTAAG 0.363000 13 81 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22176590 22176590 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:22176590C>A ENST00000374695.3 - 57 7469 c.7390G>T c.(7390-7392)Gcc>Tcc p.A2464S HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2464 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGGCATGGGCCTGACCAGCA 0.677000 11 181 0.000978159 0.0010782 1 1 0 ZNF514 84874 broad.mit.edu 37 2 95815296 95815296 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:95815296C>A ENST00000295208.2 - 5 1396 c.934G>T c.(934-936)Gga>Tga p.G312* ZNF514_ENST00000411425.1_Nonsense_Mutation_p.G312* NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 GGCTTTTCTCCAGTATGAGTC 0.433000 21 66 1.50039e-11 1.85635e-11 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38120676 38120676 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:38120676G>A ENST00000406386.3 + 7 2368 c.2113G>A c.(2113-2115)Gat>Aat p.D705N NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 705 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.D705N(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCAACGGGACGATCCCAGAGC 0.582000 18 41 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74352694 74352694 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr4:74352694G>C ENST00000226355.3 + 5 586 c.493G>C c.(493-495)Gaa>Caa p.E165Q NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 165 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTTTTATATGAAGTTGCCAG 0.408000 23 62 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56817597 56817597 + Silent SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr12:56817597G>C ENST00000229201.4 - 16 2101 c.1947C>G c.(1945-1947)ctC>ctG p.L649L TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Silent_p.L650L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 650 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.L650L(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GTGGAGCAGAGAGGATTTGTT 0.493000 15 63 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24231400 24231400 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:24231400C>G ENST00000321728.7 + 17 2157 c.1982C>G c.(1981-1983)tCt>tGt p.S661C PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 661 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCTGGCTTCTCTTATACTAAC 0.433000 22 99 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384109 12384109 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:12384109G>C ENST00000356109.5 - 5 1223 c.1105C>G c.(1105-1107)Ctt>Gtt p.L369V ZNF44_ENST00000355684.5_Missense_Mutation_p.L321V NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAGCTTCCAAGATGACAAAAC 0.418000 48 98 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236767261 236767261 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr1:236767261G>A ENST00000366582.3 - 2 249 c.135C>T c.(133-135)ttC>ttT p.F45F HEATR1_ENST00000366581.2_Silent_p.F45F|HEATR1_ENST00000366579.1_Silent_p.F45F NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 45 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CACCAATGGCGAAGGCGGTGT 0.443000 11 24 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21119907 21119907 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr18:21119907G>C ENST00000269228.5 - 18 3217 c.2663C>G c.(2662-2664)cCt>cGt p.P888R NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.P570R NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 888 P -> S (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAGTACACAGGCGGACCCGC 0.502000 25 66 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 5 56 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815295 95815295 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:95815295C>A ENST00000295208.2 - 5 1397 c.935G>T c.(934-936)gGa>gTa p.G312V ZNF514_ENST00000411425.1_Missense_Mutation_p.G312V NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 GGGCTTTTCTCCAGTATGAGT 0.428000 21 65 1.50039e-11 1.85635e-11 1 1 0 DHX34 9704 broad.mit.edu 37 19 47858446 47858446 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr19:47858446C>A ENST00000328771.4 + 3 1205 c.856C>A c.(856-858)Ctc>Atc p.L286I NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 286 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGAGCGGCATCTCCACAACGA 0.587000 25 80 1.42536e-11 1.77256e-11 1 1 0 MAP3K13 9175 broad.mit.edu 37 3 185155359 185155359 + Silent SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:185155359G>A ENST00000265026.3 + 3 934 c.600G>A c.(598-600)caG>caA p.Q200Q MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Silent_p.Q56Q|MAP3K13_ENST00000443863.1_Silent_p.Q56Q|MAP3K13_ENST00000424227.1_Silent_p.Q200Q NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 200 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGAGAGAACAGAATGAGACGG 0.468000 49 75 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683666 71683666 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:71683666C>G ENST00000393524.2 - 17 3631 c.2898G>C c.(2896-2898)ttG>ttC p.L966F PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.L1033F|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.L1033F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.L1068F Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1033 PP2C-like. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CACCAATATTCAAATAAACTA 0.498000 9 178 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148451088 148451088 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr7:148451088C>G ENST00000325222.4 + 3 440 c.161C>G c.(160-162)aCt>aGt p.T54S CUL1_ENST00000602748.1_Missense_Mutation_p.T54S|CUL1_ENST00000409469.1_Missense_Mutation_p.T54S NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 54 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AACTACTGTACTAGTGTTCAC 0.403000 7 26 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102709358 102709358 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr11:102709358C>A ENST00000299855.5 - 8 1409 c.1153G>T c.(1153-1155)Gtg>Ttg p.V385L NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 385 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) ATTTTCCTCACGGTTGGAGGG 0.403000 7 75 0.0293803 0.030644 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141283902 141283902 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:141283902C>A ENST00000389484.3 - 48 8751 c.7780G>T c.(7780-7782)Gtt>Ttt p.V2594F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2594 LDL-receptor class A 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGGAACTCAACCGTGGCACAG 0.388000 TSP Lung(27;0.18) 4 51 0.000602214 0.000665317 1 1 0 PLEC 5339 broad.mit.edu 37 8 145010165 145010165 + Silent SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr8:145010165C>T ENST00000322810.4 - 6 1033 c.864G>A c.(862-864)gtG>gtA p.V288V PLEC_ENST00000354589.3_Silent_p.V151V|PLEC_ENST00000356346.3_Silent_p.V137V|PLEC_ENST00000436759.2_Silent_p.V178V|PLEC_ENST00000354958.2_Silent_p.V129V|PLEC_ENST00000357649.2_Silent_p.V155V|PLEC_ENST00000398774.2_Silent_p.V119V|PLEC_ENST00000527096.1_Silent_p.V178V|PLEC_ENST00000345136.3_Silent_p.V151V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 288 Actin-binding.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACTGCCCACTCACCTGGATAT 0.622000 7 71 0 0 1 0 0 FBXO5 26271 broad.mit.edu 37 6 153292386 153292386 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:153292386C>G ENST00000367241.3 - 5 1498 c.1118G>C c.(1117-1119)tGt>tCt p.C373S FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.C419S NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 419 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) GCCATCTGAACAGTCTTTAGT 0.373000 21 30 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142259785 142259785 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:142259785C>A ENST00000350721.4 - 18 3663 c.3542G>T c.(3541-3543)gGc>gTc p.G1181V ATR_ENST00000383101.3_Missense_Mutation_p.G1117V NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1181 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.G1181V(1)|p.G1181F(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GAATCGAAGGCCAGTTCTCAG 0.383000 Other conserved DNA damage response genes 9 32 1.12685e-05 1.29815e-05 1 1 0 EYS 346007 broad.mit.edu 37 6 66204893 66204893 + Missense_Mutation SNP A A T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:66204893A>T ENST00000503581.1 - 4 948 c.411T>A c.(409-411)aaT>aaA p.N137K EYS_ENST00000342421.5_Missense_Mutation_p.N137K|EYS_ENST00000370621.3_Missense_Mutation_p.N137K|EYS_ENST00000393380.2_Missense_Mutation_p.N137K|EYS_ENST00000370616.2_Missense_Mutation_p.N137K|EYS_ENST00000370618.3_Missense_Mutation_p.N137K NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 137 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GCCACTTAGAATTAACAGTGT 0.413000 14 46 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112732137 112732137 + Missense_Mutation SNP C C A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:112732137C>A ENST00000314400.5 - 4 646 c.455G>T c.(454-456)tGc>tTc p.C152F C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_Missense_Mutation_p.C16F NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 152 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTTGCAGCAGCAGTCCAACAA 0.388000 20 36 2.37509e-13 2.96123e-13 1 1 0 SP140L 93349 broad.mit.edu 37 2 231223823 231223823 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:231223823C>T ENST00000243810.6 + 4 415 c.415C>T c.(415-417)Cac>Tac p.H139Y SP140L_ENST00000444636.1_Missense_Mutation_p.H139Y|SP140L_ENST00000396563.4_Missense_Mutation_p.H139Y|SP140L_ENST00000415673.2_Missense_Mutation_p.H139Y|SP140L_ENST00000458341.1_Missense_Mutation_p.H52Y Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 139 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CGATTTAATTCACATTTATAA 0.373000 30 93 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)gagdel p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 70 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967197 201967197 + RNA DEL A A - rs77338628 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr2:201967197delA ENST00000448256.1 + 0 607 actctgtctcaaaaaaaaaaa 0.453 3 4 --- --- --- --- SETD5 55209 broad.mit.edu 37 3 9488817 9488817 + Frame_Shift_Del DEL G G - TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr3:9488817delG ENST00000402466.1 + 15 2082 c.1314delG c.(1312-1314)ttgfs p.L438fs SETD5_ENST00000406341.1_Frame_Shift_Del_p.L536fs|SETD5_ENST00000302463.6_Frame_Shift_Del_p.L438fs|SETD5_ENST00000402198.1_Frame_Shift_Del_p.L536fs|SETD5_ENST00000407969.1_Frame_Shift_Del_p.L555fs Q9C0A6 SETD5_HUMAN SET domain containing 5 536 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ATCAGCCCTTGGAACAGAGCA 0.438 7 154 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652071 36652072 + Frame_Shift_Ins INS - - G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr6:36652071_36652072insG ENST00000405375.1 + 2 428_429 c.193_194insG c.(193-195)tggfs p.W65fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.W65fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.W65fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.W99fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 65 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 TGACTTCGCCTGGGAGCGTGTG 0.673 11 25 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58572795 58572800 + In_Frame_Del DEL GGCATC GGCATC - TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr16:58572795_58572800delGGCATC ENST00000317147.5 - 36 5343_5348 c.5011_5016delGATGCC c.(5011-5016)gatgccdel p.DA1671del CNOT1_ENST00000245138.4_In_Frame_Del_p.DA522del|CNOT1_ENST00000569240.1_In_Frame_Del_p.DA1666del NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1671 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol p.D1671Y(1) breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CACCACTTGTGGCATCTAGTAAGCCC 0.500 21 27 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578453 7578471 + Frame_Shift_Del DEL GGCGCGGACGCGGGTGCCG GGCGCGGACGCGGGTGCCG - rs139200646 TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr17:7578453_7578471delGGCGCGGACGCGGGTGCCG ENST00000420246.2 - 5 591_609 c.459_477delCGGCACCCGCGTCCGCGCC c.(457-477)cccggcacccgcgtccgcgccfs p.PGTRVRA153fs TP53_ENST00000455263.2_Frame_Shift_Del_p.PGTRVRA153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PGTRVRA153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PGTRVRA153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PGTRVRA153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PGTRVRA153fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 153 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(161)|p.R158L(77)|p.R158H(74)|p.G154V(46)|p.A159V(33)|p.R156P(24)|p.T155N(22)|p.A159P(19)|p.R158C(17)|p.T155P(17)|p.R158G(16)|p.T155I(14)|p.G154G(12)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.T155A(10)|p.G154S(9)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.P153P(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.G154D(6)|p.T150fs*16(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.R26H(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.G154C(4)|p.R156S(3)|p.G61V(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.A27P(2)|p.R26fs(2)|p.R156C(2)|p.P153fs*26(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.R26G(2)|p.A66P(2)|p.V157fs*24(2)|p.R65G(2)|p.R158_A159delRA(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.G154fs*27(2)|p.T155S(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.Q144_G154del11(1)|p.G61C(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.A66V(1)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R156fs*20(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.G154A(1)|p.R156_R158delRVR(1)|p.V157_M160delVRAM(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.P152fs*27(1)|p.R65fs*11(1)|p.T155fs*15(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.T62_R63insDSTPPPGT(1)|p.R158F(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R156_V157insV(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156delTR(1)|p.T150_P153delTPPP(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.G22C(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.T18fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTG 0.621 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 9 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)cccaatfs p.N103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 13 65 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085913 11085913 + RNA DEL C C - TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1432caf6-3ad9-4f0e-9269-ca42d04f5f18 5be806c8-5c37-485f-9164-c26a647754f4 g.chr21:11085913delC ENST00000470054.1 - 0 324 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) tcaccaccatcaccactacca 0.557 2 4 --- --- --- ---